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) - - 2195 1894 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 540 more - -
03044 LIS3 lissencephaly, type 3 (LIS-3) 611603 AD 160 159 TUBA1A - -
02214 SMAX2 atrophy, muscular, spinal, X-linked, type 2, infantile (SMAX-2, arthrogryposis multiplex congenita, distal, X-linked) 301830 XLR 1 1 UBA1 - -
05869 VEXAS vacuoles syndrome, E1 enzyme, X-linked, autoinflammatory, somatic - SMo 0 0 UBA1 - -
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