OBO ID: DOID:0111478
Term Name: combined oxidative phosphorylation deficiency 20 Search Ontology:
Synonyms:
  • COXPD20
Definition: A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in VARS2 on chromosome 6p21.33. https://www.ncbi.nlm.nih.gov/pubmed/25058219
References:
Ontology: Human Disease   (DOID:0111478)
OTHER combined oxidative phosphorylation deficiency 20 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
VARS2 Combined oxidative phosphorylation deficiency 20 615917
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None