OBO ID: DOID:0050713
Term Name: COX deficiency, infantile mitochondrial myopathy Search Ontology:
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 )
OTHER COX deficiency, infantile mitochondrial myopathy PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None