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
05779 COFS cerebrooculofacioskeletal syndrome (COFS) - - 1 1 ERCC1 - -
00746 COFS4 cerebrooculofacioskeletal syndrome, type 4 (COFS4) 610758 AR - - ERCC1 - -
06320 DIAR11 Diarrhea 11, malabsorptive, congenital 618662 AR - - PERCC1 - -
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 - -
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