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Summary Literature (0)
DOID:3762 - cytochrome-c oxidase deficiency disease


Disease Ontology 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.

Synonyms: MITOCHONDRIAL COMPLEX IV DEFICIENCY

Xenbase Genes : fastkd2, cox10, cox5a, coa8, taco1, coa5, pet100, cox6a2, mt-co1, cox6b1, cox20, sco1, coa7, cox8a, mt-co3, [+]

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009068 - cytochrome-c oxidase deficiency disease

OMIM:
OMIM:220110 - MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1; MC4DN1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): mitochondrial metabolism disease (is_a)