FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term platelet-type bleeding disorder 12 ID (Ontology) DOID:0111058 (Human Disease)
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.
Also Known As "BDPLT12" ; "PGHS1 deficiency" ; "platelet COX1 deficiency" (for all, see Synonyms field below)
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autosomal genetic disease
 |__autosomal dominant disease__
blood coagulation disease       |
 |__blood platelet disease______|
                                platelet-type bleeding disorder 12
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Is a autosomal dominant disease
blood platelet disease
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Synonyms
  • "BDPLT12" EXACT OMO:0003012
    "PGHS1 deficiency" EXACT
    "platelet COX1 deficiency" EXACT
    "platelet cyclooxygenase 1 deficiency" EXACT
    "platelet prostaglandin-endoperoxide synthase 1 deficiency" EXACT
Secondary IDs
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MIM:605735