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
00139 ID intellectual disability (ID) - - 2473 2159 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 543 more - -
02621 MPS1H Hurler syndrome (mucopolysaccharidosis, type Ih (MPS-1H)) 607014 AR 76 76 IDUA - -
02622 MPS1HS Hurler-Scheie syndrome (mucopolysaccharidosis (MPS-1HS)) 607015 AR 29 29 IDUA - -
02623 Scheie;MPS1S Scheie syndrome (mucopolysaccharidosis syndrome (MPS-1S)) 607016 AR 17 17 IDUA - -
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