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Items: 2

1.

Impaired thromboxane A2 agonist-induced platelet aggregation

Abnormal response to thromboxane as manifested by reduced or lacking aggregation of platelets upon addition of thromboxane A2 receptor agonists. [from HPO]

MedGen UID:
868736
Concept ID:
C4023141
Finding
2.

Bleeding disorder, platelet-type, 13, susceptibility to

Susceptibility to platelet-type bleeding disorder-13 (BDPLT13) is due to a defective thromboxane A2 receptor on platelets. The susceptibility is inherited in an autosomal dominant pattern, but clinical features, including mild mucocutaneous bleeding, occur only in the presence of a 'second hit' affecting platelet function; this second hit may be either in the TBXA2R gene or in another gene affecting the coagulation cascade (summary by Mumford et al., 2010). [from OMIM]

MedGen UID:
481244
Concept ID:
C3279614
Finding

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