Term Name: mitochondrial complex V (ATP synthase) deficiency nuclear type 4
Synonyms: MC5DN4
Definition: A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1.
Ontology: Human Disease [DOID:0060333]   ( DOID:0060333 )

Relationships
is a type of: mitochondrial complex V (ATP synthase) deficiency
has subtype: mitochondrial complex V (ATP synthase) deficiency nuclear type 4A mitochondrial complex V (ATP synthase) deficiency nuclear type 4B