All diseases

7 entries on 1 page. Showing entries 1 - 7.

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
04405 BBS-14 Bardet-Biedl syndrome?, type 14 (BBS-14) 615991 0 0 CEP290 - -
00139 ID intellectual disability (ID) - 435 368 AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 516 more - -
00002 JBTS-1 Joubert syndrome, type 1 (JBTS-1) 213300 47 49 AHI1, CEP290, INPP5E, TCTN1, TMEM67 - -
00700 JBTS-5 Joubert syndrome, type 5 (JBTS-5) 610188 1 1 CEP290 - -
00702 LCA-10 Leber congenital amaurosis, type 10 (LCA-10) 611755 0 0 CEP290 - -
00063 MKS-4 Meckel syndrome, type 4 (MKS-4) 611134 0 0 CEP290 - -
00701 SLSN-6 Senior-Loken syndrome, type 6 (SLSN-6) 610189 0 0 CEP290 - -