Term Name:	combined oxidative phosphorylation deficiency 3
Synonyms:	concentric cardiomyopathy, hypotonia, and lactic acidosis, COXPD3, encephalomyopathy, respiratory failure, and lactic acidosis, fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to COXPD3
Definition:	A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1.
Ontology:	Human Disease [DOID:0111486]   ( DOID:0111486 )