Bernard-Soulier syndrome

Summary

DOID:2217 - Bernard-Soulier syndrome

Disease Ontology Definition:A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib.

Synonyms: Bernard Soulier syndrome, Bernard - Soulier thrombopathy, Giant platelet syndrome, Giant platelet syndrome (disorder), Hemorrhagic dystrophic thrombocytopenia, Thrombopathy, Bernard-Soulier

Xenbase 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

: gp9, gp1bb

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009276 - Bernard-Soulier syndrome

MONDO:0009276 - Bernard-Soulier syndrome

MIM:

MIM:231200 - BERNARD-SOULIER SYNDROME; BSS

MIM:231200 - BERNARD-SOULIER SYNDROME; BSS

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 coagulation disease (is_a)