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
00089 BBS-1 Bardet-Biedl syndrome, type 1 (BBS-1) 209900 - - - ARL6, BBS1, CCDC28B, MKS1, TMEM67 - -
04579 BBS-13 Bardet-Biedl syndrome, type 13 (BBS-13) 615990 - - - MKS1 - -
00139 ID intellectual disability (ID) - - - - AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more - -
00078 MKS-1 Meckel syndrome, type 1 (MKS-1, Meckel-Gruber syndrome) 249000 - - - MKS1 - -
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