platelet-type bleeding disorder 18

Summary

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

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

MIM:

MIM:615888 - bleeding disorder, platelet-type, 18; bdplt18

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)