mitochondrial complex V (ATP synthase) deficiency nuclear type 1 Disease Ontology Browser

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mitochondrial complex V (ATP synthase) deficiency nuclear type 1 (DOID:0050768)
Alliance: disease page
Synonyms: MC5DN1
Alt IDs: OMIM:604273
Definition: A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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