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DO Term : COX deficiency, infantile mitochondrial myopathy [DOID:0050713] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis.

synonyms:
UMLS_CUI:C4273730,
fatal infantile COX deficiency,
fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency,
ORDO:1561,
fatal infantile cytochrome C oxidase deficiency,
fatal infantile encephalocardiomyopathy,
cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency

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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