Cytochrome-c Oxidase Deficiency
"Cytochrome-c Oxidase Deficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
| Descriptor ID |
D030401
|
| MeSH Number(s) |
C16.320.565.240 C18.452.660.195
|
| Concept/Terms |
Cytochrome-c Oxidase Deficiency- Cytochrome-c Oxidase Deficiency
- Cytochrome-c Oxidase Deficiencies
- Deficiencies, Cytochrome-c Oxidase
- Oxidase Deficiencies, Cytochrome-c
- Oxidase Deficiency, Cytochrome-c
- Cytochrome C Oxidase Deficiency
- Deficiency, Cytochrome-c Oxidase
- Deficiency, Cytochrome c Oxidase
- Mitochondrial Complex Iv Deficiency
- Cox Deficiency
- Cytochrome Oxidase Deficiency
- Cytochrome Oxidase Deficiencies
- Deficiencies, Cytochrome Oxidase
- Deficiency, Cytochrome Oxidase
- Oxidase Deficiencies, Cytochrome
- Oxidase Deficiency, Cytochrome
|
Below are MeSH descriptors whose meaning is more general than "Cytochrome-c Oxidase Deficiency".
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