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) - - 2694 2376 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
00141 LGMD2 dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2) - - 313 311 CAPN3, DYSF, FKRP, FKTN, SGCA, SGCB, SGCD, SGCG, TRAPPC11 - -
01111 MDDGA5 dystrophy-dystroglycanopathy, muscular, (congenital with brain and eye anomalies), type A5 613153 AR - - FKRP - -
01112 MDDGB6;MDC1C dystrophy-dystroglycanopathy, muscular, (congenital with/without mental retardation), type B6 (MDC1C) 606612 AR 3 3 FKRP - -
00005 MDDGC5;LGMDR9;LGMD2I dystrophy-dystroglycanopathy, muscular, (limb-girdle), type C5 (LGMDR9, LGMD2I) 607155 AR 5 7 FKRP - -
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