Term Name:	combined oxidative phosphorylation deficiency 46
Synonyms:	COXPD46
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22.
Ontology:	Human Disease [DOID:0112115]   ( DOID:0112115 )