All diseases

6 entries on 1 page. Showing entries 1 - 6.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
01099 CMD1X cardiomyopathy, dilated, type 1X (CMD-1X) 611615 AR - - FKTN - -
00139 ID intellectual disability (ID) - - 2357 2055 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 543 more - -
00141 LGMD2 dystrophy, muscular, limb-girdle, autosomal recessive, type 2 (LGMD-2) - - 184 182 CAPN3, DYSF, FKRP, FKTN, SGCA, SGCB, SGCD, SGCG, TRAPPC11 - -
01100 LGMD2M;MDDGC4 dystrophy, muscular, limb-girdle, type 2M (LGMD-2M, dystroglycanopathy C4 (MDDGC-4)) 611588 AR - - FKTN - -
01097 MDDGA4;MEB;WWS dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A4 (MDDGA-4, Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB)) 253800 AR - - FKTN - -
01098 MDDGB4 dystrophy, muscular, dystroglycanopathy (congenital without mental retardation), type B4 (MDDGB-4) 613152 AR - - FKTN - -
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