Summary Literature (0)

DOID:0111051 - platelet-type bleeding disorder 18

Disease Ontology Definition:An inherited blood coagulation 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 CalDAG-GEFI deficiency, bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency,

Echinobase Genes :


OMIM:

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

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee