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Summary Literature (0)
DOID:0050713 - COX deficiency, infantile mitochondrial myopathy

Disease Ontology Definition:A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis.

Synonyms: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency, fatal infantile COX deficiency, fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency, fatal infantile cytochrome C oxidase deficiency, fatal infantile encephalocardiomyopathy,

Xenbase Genes : sco2, cox15, coa6, coa5, sco1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0015487 - fatal infantile encephalocardiomyopathy


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

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