All diseases

6 entries on 1 page. Showing entries 1 - 6.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00579 AO1 atelosteogenesis, type I (AO-1) 108720 AD 31 7 FLNB - -
00580 AO3 atelosteogenesis, type III AO-3) 108721 AD 28 11 FLNB - -
00581 BOOMD dysplasia, Boomerang (BOOMD) 112310 AD 5 - FLNB - -
00139 ID intellectual disability (ID) - - 2695 2377 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 553 more - -
00339 LRS Larsen syndrome (LRS) 150250 AD 93 25 B4GALT7, FLNB - -
00578 SCT spondylocarpotarsal synostosis syndrome (SCT) 272460 AR 24 22 FLNB - -
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