mitochondrial complex V (ATP synthase) deficiency nuclear type 5 Disease Ontology Browser

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Disease Ontology Browser

mitochondrial complex V (ATP synthase) deficiency nuclear type 5 (DOID:0070463)
Alliance: disease page
Synonyms: MC5DN5
Alt IDs: OMIM:618120
Definition: A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3.

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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