All diseases

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

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00076 COACH COACH syndrome 216360 AR 1 1 CC2D2A, RPGRIP1L, TMEM67 - -
02743 CORD13 dystrophy, cone-rod, type 13 (CORD-13) 608194 - - - RPGRIP1 - -
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 - -
00080 JBTS7 Joubert syndrome, type 7 (JBTS-7) 611560 AR - - RPGRIP1L - -
03450 LCA6 Leber congenital amaurosis, type 6 (LCA-6) 613826 AR 10 3 RPGRIP1 - -
05578 MKS Meckel syndrome (MKS, Meckel-Gruber syndrome) - - 178 172 CC2D2A, RPGRIP1L, TMEM67 - -
00079 MKS5 Meckel syndrome, type 5 611561 AR - - RPGRIP1L - -
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