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Platelet-type bleeding disorder 12
rareAn inherited blood coagulation 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.
- Identifiers
- MONDO:0011588 OMIM:605735
- Also known as
- BDPLT12 · bleeding disorder, platelet-type, 12 · PGHS1 deficiency · platelet COX1 deficiency · platelet cyclooxygenase 1 deficiency
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