Human genes for Bernard-Soulier syndrome
Bernard-Soulier syndrome [DOID:2217]
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, BernardSoulier syndrome, Bernard-Soulier disease, Bernard-Soulier disorder, Bernard-Soulier syndromes ...