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Bernard-Soulier syndrome

Disease Summary
Associated Targets (4)
Tbio

3

Tclin

1


Explore Associated Targets
Mondo Description Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.
Uniprot Description A coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, thrombocytopenia, and impaired prothrombin consumption.
Disease Ontology Description An inherited 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.
Mondo Term and Equivalent IDs
MONDO:0009276:  Bernard-Soulier syndrome
GARD:0002470: 
MESH:D001606: 
NCIT:C84595: 
Orphanet:274: 
SCTID:234478007: 
UMLS:C0005129: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)