Term Name: platelet-type bleeding disorder 18
Synonyms: BDPLT18, bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency, bleeding disorder due to CalDAG-GEFI deficiency
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.
Ontology: Human Disease [DOID:0111051]   ( DOID:0111051 )

Relationships
is a type of: autosomal recessive disease blood platelet disease