OBO ID: DOID:0111496
Term Name: combined oxidative phosphorylation deficiency 17 Search Ontology:
Synonyms:
  • COXPD17
Definition: A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in ELAC2 on chromosome 17p12. https://www.ncbi.nlm.nih.gov/pubmed/23849775
References:
Ontology: Human Disease   (DOID:0111496)
OTHER combined oxidative phosphorylation deficiency 17 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ELAC2 Combined oxidative phosphorylation deficiency 17 615440
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None