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Metadata
ID DOID:3762
Name cytochrome-c oxidase deficiency disease
Definition 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.
https://en.wikipedia.org/wiki/Cytochrome_c_oxidase#Genetic_defects_and_disorders, https://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency, https://www.ncbi.nlm.nih.gov/pubmed/26846578
Xrefs

MESH:D030401

NCI:C98910

OMIM:220110

SNOMEDCT_US_2020_09_01:237991006

UMLS_CUI:C0268237

Subsets

DO_FlyBase_slim

NCIthesaurus

Synonyms

MITOCHONDRIAL COMPLEX IV DEFICIENCY [EXACT]

Parent Relationships

is_a mitochondrial metabolism disease

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