Term Name:	mitochondrial complex V (ATP synthase) deficiency nuclear type 1
Synonyms:	MC5DN1
Definition:	A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11.
Ontology:	Human Disease [DOID:0050768]   ( DOID:0050768 )