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mitochondrial complex V (ATP synthase) deficiency nuclear type 4 (DOID:0060333)
Alliance: disease page
Synonyms: MC5DN4
Alt IDs: OMIM:615228, ICD10CM:E88.8, ORDO:254913
Definition: A mitochondrial complex V (ATP synthase) deficiency that has material basis in mutation in the ATP5A1 gene on chromosome 18q.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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MGI 6.12
The Jackson Laboratory