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Echinobase
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

Echinobase Genes : bcs1l, cox10, cox15, sco1, taco1, lrpprc, sdha


MIM:
MIM:220110 - mitochondrial complex iv deficiency

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)