All diseases

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

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
00076 COACH COACH syndrome 216360 - - - CC2D2A, RPGRIP1L, TMEM67 - -
00139 ID intellectual disability (ID) - - - - AAAS, AARS2, ABCD1, ABCD4, ABHD5, ACAD9, ACO2, ACOX1, ACSF3, ACSL4, ACTB, ACTG1, ADAMTS10, ADAR, ADCK3, ADSL, AFF2, AGA, AGTR2, AHI1, 515 more - -
00080 JBTS-7 Joubert syndrome, type 7 (JBTS-7) 611560 - - - RPGRIP1L - -
00079 MKS-5 Meckel syndrome, type 5 (MKS-5) 611561 - - - RPGRIP1L - -
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