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) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
00073 MDDGA3;MEB;WWS dystrophy-dystroglycanopathy, muscular, (congenital with brain and eye anomalies), type A3 (Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB)) 253280 AR 23 23 POMGNT1 - -
01087 MDDGB3 dystrophy-dystroglycanopathy, muscular, (congenital with mental retardation), type B3 613151 AR - - POMGNT1 - -
01088 MDDGC3;LGMDR15;LGMD2O dystrophy-dystroglycanopathy, muscular, (limb-girdle), type C3 (LGMDR15, LGMD2O) 613157 AR - - POMGNT1 - -
05721 RP76 retinitis pigmentosa, type 76 (RP76) 617123 AR - - POMGNT1 - -
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