autosomal recessive disease blood coagulation disease Bernard-Soulier syndrome MESH:D001606 DOID:2217 Giant platelet syndrome NCI:C84595 disease_ontology ORDO:274 Hemorrhagic dystrophic thrombocytopenia SNOMEDCT_US_2020_03_01:54569005 OMIM mapping confirmed by DO. [SN]. OMIM:231200 UMLS_CUI:C0005129 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. Bernard - Soulier thrombopathy Bernard Soulier syndrome Thrombopathy, Bernard-Soulier