Bernard-Soulier syndrome (DOID:2217)
Alliance: disease page
Synonyms: Bernard - Soulier thrombopathy; Bernard Soulier syndrome; Giant platelet syndrome; Hemorrhagic dystrophic thrombocytopenia; Thrombopathy, Bernard-Soulier
Alt IDs: OMIM:231200, MESH:D001606, NCI:C84595, ORDO:274, UMLS_CUI:C0005129
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.