OBO ID: DOID:0111058
Term Name: platelet-type bleeding disorder 12 Search Ontology:
Synonyms:
  • BDPLT12
  • PGHS1 deficiency
  • platelet COX1 deficiency
  • platelet cyclooxygenase 1 deficiency
  • platelet prostaglandin-endoperoxide synthase 1 deficiency
Definition: A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. https://www.ncbi.nlm.nih.gov/pubmed/8562397
References:
Ontology: Human Disease   ( DOID:0111058 )
OTHER platelet-type bleeding disorder 12 PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None