All diseases

4 entries on 1 page. Showing entries 1 - 4.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00139 ID intellectual disability (ID) - - 2334 2032 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 542 more - -
01109 LGMD2N;MDDGC2 dystrophy, muscular, limb-girdle, type 2N (LGMD-2N, dystroglycanopathy C2 (MDDGC-2)) 613158 AR 1 1 POMT2 - -
01107 MDDGA2;MEB;WWS dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A2 (MDDGA-2, Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB)) 613150 AR 0 0 POMT2 - -
01108 MDDGB2 dystrophy, muscular, dystroglycanopathy (congenital with mental retardation), type B2 (MDDGB-2) 613156 AR 0 0 POMT2 - -
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