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DOID:0111058 - platelet-type bleeding disorder 12
Disease Ontology Definition:An 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.
Synonyms: BDPLT12, PGHS1 deficiency, platelet COX1 deficiency, platelet cyclooxygenase 1 deficiency, platelet prostaglandin-endoperoxide synthase 1 deficiency,
Echinobase Genes
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Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
inherited blood coagulation disease (is_a)