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
06872 CDG2R Congenital disorder of glycosylation, type IIr 301045 XLR 0 0 ATP6AP2 - -
00139 ID intellectual disability (ID) - - 2194 1893 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 540 more - -
00821 MRXSH mental retardation, X-linked, syndromic, Hedera type (MRXSH) 300423 XLR 1 1 ATP6AP2 - -
02202 XPDS Parkinsonism with spasticity, X-linked (XPDS) 300911 XLR 1 1 ATP6AP2 - -
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