OBO ID: DOID:0111479
Term Name: combined oxidative phosphorylation deficiency 8 Search Ontology:
Synonyms:
  • COXPD8
Definition: A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in AARS2 on chromosome 6p21.1. https://www.ncbi.nlm.nih.gov/pubmed/21549344
References:
Ontology: Human Disease   (DOID:0111479)
OTHER combined oxidative phosphorylation deficiency 8 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
AARS2 Combined oxidative phosphorylation deficiency 8 614096
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None