has material basis in germline mutation in TBXA2R inherited bleeding disorder, platelet-type bleeding diathesis due to thromboxane A2 receptor variants https://www.malacards.org/card/bleeding_diathesis_due_to_thromboxane_synthesis_deficiency MONDO:0800446 Orphanet:220443 icd11.foundation:1676860885 bleeding diathesis due to TBXA2R variants https://github.com/monarch-initiative/mondo/issues/9994 UMLS:C5190857 A bleeding platelet disorder caused by a variation in the TBXA2R gene, which impairs thromboxane A2 receptor signaling and leads to impaired platelet aggregation. Clinical features such as mild mucocutaneous bleeding including epistaxis, easy bruising, and ecchymoses tend to appear only when a second hit further disrupts platelet activation, and this additional impairment may arise from another variant within TBXA2R or from defects in other genes that participate in platelet signaling or the coagulation pathway. GARD:0017132 TBXA2R-related platelet disorder MEDGEN:1678745 https://github.com/monarch-initiative/mondo/issues/6419 bleeding diathesis due to thromboxane synthesis deficiency Orphanet:728656