Term Name:	combined oxidative phosphorylation deficiency 54
Synonyms:	COXPD54
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13.
Ontology:	Human Disease [DOID:0070427]   ( DOID:0070427 )