Term Name: mitochondrial complex V (ATP synthase) deficiency nuclear type 3
Synonyms: MC5DN3
Definition: A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13.
Ontology: Human Disease [DOID:0060332]   ( DOID:0060332 )

Relationships
is a type of: mitochondrial complex V (ATP synthase) deficiency