OBO ID: DOID:0111467
Term Name: combined oxidative phosphorylation deficiency 13 Search Ontology:
Synonyms:
  • COXPD13
Definition: A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in PNPT1 on chromosome 2p16.1. https://www.ncbi.nlm.nih.gov/pubmed/23084291
References:
Ontology: Human Disease   (DOID:0111467)
OTHER combined oxidative phosphorylation deficiency 13 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PNPT1 Combined oxidative phosphorylation deficiency 13 614932
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None