platelet-type bleeding disorder 18 (DOID:0111051)
Alliance: disease page
Synonyms: BDPLT18; bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency; bleeding disorder due to CalDAG-GEFI deficiency
Alt IDs: OMIM:615888, ICD10CM:D69.1, ORDO:420566
Definition: A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13.