has material basis in germline mutation in RASGRP2 inherited bleeding disorder, platelet-type platelet-type bleeding disorder 18 https://github.com/monarch-initiative/mondo/issues/9994 https://www.malacards.org/card/bleeding_disorder_platelet_type_18 platelet-type bleeding disorder 18 UMLS:C4014584 RASGRP2‑related platelet disorder is an autosomal recessive platelet signaling defect caused by pathogenic variants in RASGRP2, which encodes CalDAG‑GEFI, a guanine‑exchange factor essential for rapid Rap1‑mediated integrin activation. Affected individuals typically present in infancy with mucocutaneous bleeding, including epistaxis, bruising, hematomas, and prolonged bleeding after injury or procedures. Platelet count and morphology are normal, but platelets exhibit markedly impaired aggregation and spreading in response to physiologic agonists such as ADP and epinephrine, reflecting defective inside‑out and outside‑in αIIbβ3 integrin signaling. OMIM:615888 MEDGEN:863021 RASGRP2 inherited bleeding disorder, platelet-type BDPLT18 MONDO:0014386 DOID:0111051 RASGRP2-related platelet disorder Orphanet:420566 bleeding disorder due to CalDAG-GEFI deficiency bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency GARD:0017695 inherited bleeding disorder, platelet-type caused by mutation in RASGRP2 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. inherited blood coagulation disorder