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 - -
00141 LGMD-2 dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2) - - 182 181 CAPN3, DYSF, FKRP, FKTN, SGCA, SGCB, SGCD, SGCG, TRAPPC11 - -
00005 LGMD-2I;MDDGC-5 dystrophy, muscular, limb-girdle, type 2I (LGMD-2I, dystroglycanopathy C5 (MDDGC-5)) 607155 AR 4 6 FKRP - -
01111 MDDGA-5 dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A5 (MDDGA-5) 613153 - 0 0 FKRP - -
01112 MDDGB-6 dystrophy, muscular, dystroglycanopathy (congenital with or without mental retardation), type B6 (MDDGB-6) 606612 - 3 3 FKRP - -
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