OBO ID: DOID:0111500
Term Name: combined oxidative phosphorylation deficiency 23 Search Ontology:
Synonyms:
  • COXPD23
Definition: A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in GTPBP3 on chromosome 19p13.11. https://www.ncbi.nlm.nih.gov/pubmed/25434004
References:
Ontology: Human Disease   (DOID:0111500)
OTHER combined oxidative phosphorylation deficiency 23 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
GTPBP3 Combined oxidative phosphorylation deficiency 23 616198
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None