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DO Term : cytochrome-c oxidase deficiency disease [DOID:3762] Disease Ontology

Namespace

disease_ontology

Obsolete

false

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.

synonyms:
NCI:C98910,
SNOMEDCT_US_2023_03_01:237991006,
UMLS_CUI:C0268237,
MESH:D030401,
MITOCHONDRIAL COMPLEX IV DEFICIENCY,
OMIM:PS220110,
PS220110,
GARD:48

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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