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
01082 agenesis... agenesis, corpus callosum, partial, X-linked 304100 XLR 0 0 L1CAM - -
01080 HSAS hydrocephalus, with congenital stenosis of aqueduct of Sylvis (HSAS, hydrocephalus with Hirschsprung disease) 307000 XLR 2 2 L1CAM - -
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 - -
01081 MASA syndrome, MASA (mental retardation, aphasia, shuffling gait, adducted thumbs; CRASH syndrome) 303350 XLR 0 0 L1CAM - -
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