COX deficiency, infantile mitochondrial myopathy Disease Ontology Browser

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COX deficiency, infantile mitochondrial myopathy (DOID:0050713)
Alliance: disease page
Synonyms: cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency; fatal infantile COX deficiency; fatal infantile cytochrome C oxidase deficiency; fatal infantile encephalocardiomyopathy
Alt IDs: ORDO:1561, UMLS_CUI:C4273730
Definition: A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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