Term Name:	combined oxidative phosphorylation deficiency 47
Synonyms:	COXPD47
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13.
Ontology:	Human Disease [DOID:0112114]   ( DOID:0112114 )