Term Name: mitochondrial complex V (ATP synthase) deficiency nuclear type 5
Synonyms: MC5DN5
Definition: A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3.
Ontology: Human Disease [DOID:0070463]   ( DOID:0070463 )

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