Term Name:	combined oxidative phosphorylation deficiency 40
Synonyms:	COXPD40, QRSL1-related COXPD
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21.
Ontology:	Human Disease [DOID:0112117]   ( DOID:0112117 )