Metadata | |
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ID | DOID:0050713 |
Name | COX deficiency, infantile mitochondrial myopathy |
Definition | A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/ |
Xrefs | |
SKOS |
exactMatch ORDO:1561 exactMatch UMLS_CUI:C4273730 |
Subsets |
DO_rare_slim |
Synonyms |
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency [EXACT] fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency [EXACT] fatal infantile COX deficiency [EXACT] fatal infantile cytochrome C oxidase deficiency [EXACT] fatal infantile encephalocardiomyopathy [EXACT] |
Parent Relationships |