All diseases

4 entries on 1 page. Showing entries 1 - 4.

ID     

AscendingAbbreviation     

Name     

OMIM ID     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00076 COACH COACH syndrome 216360 1 1 CC2D2A, RPGRIP1L, TMEM67 - -
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 - -
00082 JBTS-9 Joubert syndrome, type 9 (JBTS-9) 612285 0 0 CC2D2A - -
00081 MKS-6 Meckel syndrome, type 6 (MKS-6) 612284 0 0 CC2D2A - -