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Human Disease

COX deficiency, benign infantile mitochondrial myopathy

Term ID
DOID:0081377
Synonyms
  • Isolated cytochrome C oxidase deficiency
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/
References
  • GARD:48
  • ORDO:254905
  • UMLS_CUI:C5779825
Ontology
Human Disease   ( DOID:0081377 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models