Human Health Exposure Analysis Resource

Last uploaded: July 19, 2024
Preferred Name

COX deficiency, benign infantile mitochondrial myopathy
Synonyms

Isolated cytochrome C oxidase deficiency

Definitions

A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.

ID

http://purl.obolibrary.org/obo/DOID_0081377

alternative label

Isolated cytochrome C oxidase deficiency

database_cross_reference

UMLS_CUI:C5779825

ORDO:254905

GARD:48

definition

A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.

has exact synonym

Isolated cytochrome C oxidase deficiency

has_obo_namespace

disease_ontology

id

DOID:0081377

in_subset

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

label

COX deficiency, benign infantile mitochondrial myopathy

notation

DOID:0081377

note

A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles.

preferred label

COX deficiency, benign infantile mitochondrial myopathy

prefLabel

COX deficiency, benign infantile mitochondrial myopathy

subClassOf

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

Delete Subject Author Type Created
No notes to display