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DO Term : combined oxidative phosphorylation deficiency 30 [DOID:0111471] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3.

synonyms:
616974,
OMIM:616974,
COXPD30,
ORDO:478042

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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