has characteristic has characteristic has material basis in germline mutation in P2RY12 Autosomal dominant inheritance inherited bleeding disorder, platelet-type autosomal dominant disease P2RY12-related platelet disorder, autosomal dominant https://github.com/monarch-initiative/mondo/issues/9994 A platelet type bleeding disorder of autosomal dominant inheritance caused by a variation in the P2RY12 gene that exerts a dominant negative effect by disrupting receptor homodimerization, leading to markedly impaired adenosine diphosphate induced platelet aggregation despite normal receptor expression. Affected individuals may exhibit severe bleeding symptoms due to defective amplification of platelet activation signals. MONDO:1060234 P2RY12-related platelet disorder, autosomal dominant