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mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 (DOID:0050768)
Alliance: disease page
Synonyms: MC5DN1
Alt IDs: OMIM:604273, ICD10CM:E88.8, ORDO:254913
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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.11
The Jackson Laboratory