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Human Disease

COX deficiency, infantile mitochondrial myopathy

Term ID
DOID:0050713
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
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/
References
  • ORDO:1561
  • UMLS_CUI:C4273730
Ontology
Human Disease   ( DOID:0050713 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models