All diseases

9 entries on 1 page. Showing entries 1 - 9.
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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 - -
00076 COACH COACH syndrome 216360 AR 1 1 CC2D2A, RPGRIP1L, TMEM67 - -
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 - -
00934 JBTS6 Joubert syndrome, type 6 (JBTS-6) 610688 AR 1 1 TMEM67 - -
05578 MKS Meckel syndrome (MKS, Meckel-Gruber syndrome) - - 178 172 CC2D2A, RPGRIP1L, TMEM67 - -
00075 MKS3 Meckel syndrome, type 3 607361 AR 1 1 TMEM67 - -
00077 NPHP11 nephronophthisis, type 11 (NPHP-11) 613550 AR - - TMEM67 - -
05419 RHYNS retinitis pigmentosa, hypopituitarism, nephronophthisis and skeletal dysplasia syndrome (RHYNS) 602152 AR 1 1 TMEM67 eyes;ears;liver;bones (skeleton) -
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