Term Name:	combined oxidative phosphorylation deficiency 48
Synonyms:	COXPD48
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2.
Ontology:	Human Disease [DOID:0112112]   ( DOID:0112112 )