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DO Term : combined oxidative phosphorylation deficiency 6 [DOID:0111502] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1.

synonyms:
OMIM:300816,
Mitochondrial encephalomyopathy due to COXPD6,
COXPD6,
severe X-linked mitochondrial encephalomyopathy,
Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6,
ORDO:238329,
300816

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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