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Summary Literature (0)
DOID:0111051 - platelet-type bleeding disorder 18

Disease Ontology 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.

Synonyms: BDPLT18, bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency, bleeding disorder due to CalDAG-GEFI deficiency

Xenbase Genes : rasgrp2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0014386 - platelet-type bleeding disorder 18

MIM:
MIM:615888 - BLEEDING DISORDER, PLATELET-TYPE, 18; BDPLT18

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), blood platelet disease (is_a)