Term Name:	combined oxidative phosphorylation deficiency 51
Synonyms:	COXPD51
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2.
Ontology:	Human Disease [DOID:0112137]   ( DOID:0112137 )