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Summary Literature (1)
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 : ndufv1, fastkd2, sco2, ndufs8, ndufs4, ndufa2, ndufa10, ndufa9, cox10, sdha, cox5a, coa8, ndufaf6, dld, taco1, [+]

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


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)