cytochrome-c oxidase deficiency disease (DOID:3762)
Alliance: disease page
Synonyms: MITOCHONDRIAL COMPLEX IV DEFICIENCY
Alt IDs: MESH:D030401, NCI:C98910, OMIM:PS220110, UMLS_CUI:C0268237
Definition: A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation.