Term Name:	combined oxidative phosphorylation deficiency 43
Synonyms:	COXPD43
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3.
Ontology:	Human Disease [DOID:0112116]   ( DOID:0112116 )