platelet-type bleeding disorder 12
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.
MONDO:0000009
inherited bleeding disorder, platelet-type
is_a
MONDO:0021181
inherited blood coagulation disorder
is_a
BDPLT12
exact
PGHS1 deficiency
exact
bleeding disorder, platelet-type, 12
related
platelet COX1 deficiency
exact
platelet cyclooxygenase 1 deficiency
exact