autosomal recessive disease blood coagulation disease Bernard-Soulier syndrome MESH:D001606 DOID:2217 SNOMEDCT_US_2025_09_01:54569005 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. NCI:C84595 disease_ontology ORDO:274 UMLS_CUI:C0005129 MIM:231200 Bernard - Soulier thrombopathy Bernard Soulier syndrome Giant platelet syndrome Hemorrhagic dystrophic thrombocytopenia OMIM mapping confirmed by DO. [SN]. Thrombopathy, Bernard-Soulier