cytochrome-c oxidase deficiency disease
Information
- Disease name
- cytochrome-c oxidase deficiency disease
- Disease ID
- DOID:3762
- Description
- "A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation." [url:https\://en.wikipedia.org/wiki/Cytochrome_c_oxidase#Genetic_defects_and_disorders, url:https\://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency, url:https\://www.ncbi.nlm.nih.gov/pubmed/26846578]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
- Disase is a (Disease Ontology)
- DOID:700
- Cross Reference ID (Disease Ontology)
- GARD:48
- Cross Reference ID (Disease Ontology)
- MESH:D030401
- Cross Reference ID (Disease Ontology)
- MIM:PS220110
- Cross Reference ID (Disease Ontology)
- NCI:C98910
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:237991006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0268237
- Exact Synonym (Disease Ontology)
- MITOCHONDRIAL COMPLEX IV DEFICIENCY