OBO ID: DOID:0111489
Term Name: combined oxidative phosphorylation deficiency 27 Search Ontology:
Synonyms:
  • COXPD27
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in CARS2 on chromosome 13q34. (2)
References:
Ontology: Human Disease   (DOID:0111489)
OTHER combined oxidative phosphorylation deficiency 27 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
CARS2 Combined oxidative phosphorylation deficiency 27 616672
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None