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
01080 - Hydrocephalus with congenital idiopathic intestinal pseudoobstruction (Hydrocephalus with Hirschsprung disease) 307000 - - - L1CAM - -
01082 - agenesis, corpus callosum, partial, X-linked 304100 - - - L1CAM - -
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 - -
01081 MASA MASA syndrome (CRASH syndrome (MASA)) 303350 - - - L1CAM - -
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