All diseases

2 entries on 1 page. Showing entries 1 - 2.
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ID     

AscendingAbbreviation     

Name     

OMIM ID     

Inheritance     

Individuals     

Phenotypes     

Associated with genes

Associated tissues

Disease features
05316 COXPD combined oxidative phosphorylation deficiency - - 14 14 GTPBP3, NFS1, NSUN3, PTCD3, SMCR7, TRIT1 - -
07002 COXPD48 combined oxidative phosphorylation deficiency, type 48 619012 AR - - NSUN3 - -
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