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mitochondrial complex V (ATP synthase) deficiency nuclear type 2 (DOID:0060331)
Alliance: disease page
Synonyms: MC5DN2; neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency
Alt IDs: OMIM:614052, ICD10CM:G71.3, ORDO:1194
Definition: A mitochondrial complex V (ATP synthase) deficiency that has material basis in mutation in the TMEM70 gene on chromosome 8q21.

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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