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cytochrome-c oxidase deficiency disease

Go to external page http://purl.obolibrary.org/obo/DOID_3762

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. [ http://purl.obolibrary.org/obo/ECO_0007645 http://purl.obolibrary.org/obo/ECO_0007638 url:https://en.wikipedia.org/wiki/Cytochrome_c_oxidase#Genetic_defects_and_disorders url:https://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency http://purl.obolibrary.org/obo/ECO_0007637 url:https://www.ncbi.nlm.nih.gov/pubmed/26846578 ]

Synonyms: MITOCHONDRIAL COMPLEX IV DEFICIENCY

This is just here as a test because I lose it

Term information

database cross reference
  • MIM:PS220110
  • UMLS_CUI:C0268237
  • MESH:D030401
  • NCI:C98910
  • GARD:48
  • SNOMEDCT_US_2023_03_01:237991006
Subsets

DO_FlyBase_slim, DO_rare_slim, NCIthesaurus

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

id

DOID:3762