mitochondrial complex V (ATP synthase) deficiency nuclear type 2 Disease Ontology Browser

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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, ORDO:1194, UMLS_CUI:C4273660
Definition: A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21.

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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