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Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Cytochrome-c Oxidase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Cytochrome-c Oxidase Deficiency
Nutritional and Metabolic Diseases > Metabolic Diseases > Mitochondrial Diseases > Cytochrome-c Oxidase Deficiency

Preferred term

Cytochrome-c Oxidase Deficiency  

Type

  • Topical Descriptor

Broader concept

Related concepts

Entry terms

  • Complex IV Deficiencies
  • Complex IV Deficiency
  • Cox Deficiencies
  • Cox Deficiency
  • Cytochrome C Oxidase Deficiency
  • Cytochrome Oxidase Deficiencies
  • Cytochrome Oxidase Deficiency
  • Deficiencies, Complex IV
  • Deficiencies, Cox
  • Deficiencies, Cytochrome Oxidase
  • Deficiency, Complex IV
  • Deficiency, Cox
  • Deficiency, Cytochrome c Oxidase
  • Deficiency, Cytochrome-c Oxidase
  • Deficiency, Cytochrome Oxidase
  • Mitochondrial Complex IV Deficiency
  • Oxidase Deficiencies, Cytochrome
  • Oxidase Deficiency, Cytochrome

Scope note

  • A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations in the SURF1, SCO2, COX10, or SCO1 genes. ELECTRON TRANSPORT COMPLEX IV deficiency caused by mutation in SURF1 manifests itself as LEIGH DISEASE; that caused by mutation in SCO2 as fatal infantile cardioencephalomyopathy; that caused by mutation in COX10 as tubulopathy and leukodystrophy; and that caused by mutation in SCO1 as early-onset hepatic failure and neurologic disorder. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#220110, May 17, 2001)

History note

  • 2002

In other languages

URI

http://www.yso.fi/onto/mesh/D030401

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