Term Name:	combined oxidative phosphorylation deficiency 30
Synonyms:	COXPD30
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3.
Ontology:	Human Disease [DOID:0111471]   ( DOID:0111471 )