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Metadata
ID DOID:0081377
Name COX deficiency, benign infantile mitochondrial myopathy
Definition A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.
https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/
Xrefs

GARD:48

ORDO:254905

UMLS_CUI:C5779825

Subsets

DO_rare_slim

Synonyms

Isolated cytochrome C oxidase deficiency [EXACT]

Parent Relationships

is_a cytochrome-c oxidase deficiency disease

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