platelet-type bleeding disorder 12

Term ID

DOID:0111058

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

• OMIM:605735

Ontology

Human Disease   ( DOID:0111058 )