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Bernard-Soulier syndrome, type A2, autosomal dominant

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material basis in heterozygous mutations in the GP1BA gene on chromosome 17p.
Uniprot Description A coagulation disorder characterized by mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet volume. Some individuals have no symptoms. Mild bleeding tendencies manifest as epistaxis, gingival bleeding, menorrhagia, easy bruising, or prolonged bleeding after dental surgery.
Disease Ontology Description A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p.
Mondo Term and Equivalent IDs
MONDO:0007930:  Bernard-Soulier syndrome, type A2, autosomal dominant
UMLS:C3277076: