Human Health Exposure Analysis Resource

Last uploaded: February 2, 2024
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Preferred Name

cytochrome-c oxidase deficiency disease
Synonyms

MITOCHONDRIAL COMPLEX IV DEFICIENCY
Definitions

OMIM mapping confirmed by DO. [SN]. 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.
ID

http://purl.obolibrary.org/obo/DOID_3762
comment

OMIM mapping confirmed by DO. [SN].
database_cross_reference

UMLS_CUI:C0268237

MESH:D030401

SNOMEDCT_US_2023_03_01:237991006

OMIM:PS220110

GARD:48

NCI:C98910
has exact synonym

MITOCHONDRIAL COMPLEX IV DEFICIENCY
has symptom

http://purl.obolibrary.org/obo/SYMP_0000470
has_obo_namespace

disease_ontology
id

DOID:3762
in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

http://purl.obolibrary.org/obo/doid#DO_FlyBase_slim
label

cytochrome-c oxidase deficiency disease
notation

DOID:3762
prefLabel

cytochrome-c oxidase deficiency disease
textual 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.
subClassOf

http://purl.obolibrary.org/obo/DOID_700
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