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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:0009068 - cytochrome-c oxidase deficiency disease |
| MIM:220110 - MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 1; MC4DN1 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
mitochondrial metabolism disease (is_a)