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DO Term : mitochondrial complex V (ATP synthase) deficiency nuclear type 1 [DOID:0050768] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11.

synonyms:
MC5DN1,
OMIM:604273,
604273

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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