Term Name: mitochondrial complex V (ATP synthase) deficiency nuclear type 7
Synonyms: MC5DN7
Definition: A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11.
Ontology: Human Disease [DOID:0070464]   ( DOID:0070464 )

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