All diseases

5 entries on 1 page. Showing entries 1 - 5.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
06069 ADCL3 Cutis laxa, autosomal dominant 3 616603 AD - - ALDH18A1 - -
01733 ARCL3A cutis laxa, autosomal recessive, type IIIA (ARCL-3A, De Barsy syndrome) 219150 AR - - ALDH18A1 - -
00139 ID intellectual disability (ID) - - 2749 2431 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 555 more - -
06067 SPG9A Spastic paraplegia 9A, autosomal dominant 601162 AD - - ALDH18A1 - -
06068 SPG9B Spastic paraplegia 9B, autosomal recessive 616586 AR - - ALDH18A1 - -
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