All diseases

5 entries on 1 page. Showing entries 1 - 5.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00139 ID intellectual disability (ID) - - 1846 1579 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 536 more - -
01051 PCWH syndrome, PCWH (PCWH) 609136 AD 0 0 SOX10 - -
05667 WS syndrome, Waardenburg (WS) - - 340 340 EDNRB, PAX3, SOX10 - -
01050 WS2E syndrome, Waardenburg, type 2E, with or without neurologic involvement (WS2E) 611584 AD 2 2 SOX10 - -
01049 WS4C syndrome, Waardenburg, type 4C (WS4C) 613266 AD 2 2 SOX10 - -
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