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
00089 BBS1 Bardet-Biedl syndrome, type 1 (BBS-1) 209900 AR;DR 12 11 BBS1, CCDC28B, MKS1, TMEM67 - -
04579 BBS13 Bardet-Biedl syndrome, type 13 (BBS-13) 615990 AR - - MKS1 - -
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 - -
05109 JBTS Joubert syndrome (JBTS) - - 655 602 AHI1, ARL3, ARMC9, B9D1, CEP104, CEP290, MKS1, TCTN2, TMEM67 - -
06335 JBTS28 Joubert syndrome 28 617121 AR - - MKS1 - -
00078 MKS1 Meckel syndrome, type 1 (MKS-1, Meckel-Gruber syndrome) 249000 AR 16 16 MKS1 - -
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