platelet-type bleeding disorder 18
A rare hematologic disease due to defective platelet function and characterized by mucocutaneous bleeding starting in infancy (around 18 months of age), presenting with prolonged and severe epistaxis, hematomas and bleeding after tooth extraction. Massive menorrhagia and chronic anemia have also been reported.
MONDO:0000009
inherited bleeding disorder, platelet-type
is_a
MONDO:0021181
inherited blood coagulation disorder
is_a
BDPLT18
exact
RASGRP2 inherited bleeding disorder, platelet-type
exact
RASGRP2-related platelet disorder
exact
bleeding disorder due to CalDAG-GEFI deficiency
exact
bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
exact
inherited bleeding disorder, platelet-type caused by mutation in RASGRP2
exact
platelet-type bleeding disorder 18
exact