OBO ID: DOID:0111486
Term Name: combined oxidative phosphorylation deficiency 3 Search Ontology:
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 TSFM on chromosome 12q14.1. (2)
References:
Ontology: Human Disease   (DOID:0111486)
OTHER combined oxidative phosphorylation deficiency 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TSFM Combined oxidative phosphorylation deficiency 3 610505
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None