All diseases

2 entries on 1 page. Showing entries 1 - 2.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00139 ID intellectual disability (ID) - - - - AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more - -
01139 MEDNIK;EKV-3 mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, keratoderma (MEDNIK, erythrokeratodermia variabilis, type 3 (EKV-3)) 609313 - - - AP1S1 - -
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