OBO ID: DOID:0111477
Term Name: combined oxidative phosphorylation deficiency 14 Search Ontology:
Synonyms:
  • COXPD14
Definition: A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in FARS2 on chromosome 6p25.1. (2)
References:
Ontology: Human Disease   (DOID:0111477)
OTHER combined oxidative phosphorylation deficiency 14 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FARS2 Combined oxidative phosphorylation deficiency 14 614946
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None