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
05676 Arima syndrome Arima syndrome 243910 - - - CEP290 - -
04405 BBS14 Bardet-Biedl syndrome?, type 14 (BBS-14) 615991 AR - - CEP290 - -
00139 ID intellectual disability (ID) - - 2694 2376 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 - -
00700 JBTS5 Joubert syndrome, type 5 (JBTS-5) 610188 AR 3 3 CEP290 - -
00702 LCA10 Leber congenital amaurosis, type 10 (LCA-10) 611755 - 3 2 CEP290 - -
00063 MKS4 Meckel syndrome, type 4 611134 AR - - CEP290 - -
00701 SLSN6 Senior-Loken syndrome, type 6 (SLSN-6) 610189 AR - - CEP290 - -
05463 trichromacy trichromacy, oligocone - - 2 2 CEP290 - -
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