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
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 - -
00040 MTDPS-7 mitochondrial DNA depletion syndrome (hepatocerebral), type 7 (MTDPS-7) 271245 - - - C10orf2 - -
00041 PEOA-3 ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant, type 3 (PEOA-3) 609286 - - - C10orf2 - -
04386 PRLTS-5 Perrault syndrome, type 5 (PRLTS-5) 616138 - - - C10orf2 - -
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