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Bernard-Soulier syndrome

rare

Bernard Soulier syndrome (BSS) is an inherited platelet disorder characterized by mild to severe bleeding tendency, macrothrombocytopenia and absent ristocetin-induced platelet agglutination.

Identifiers
MONDO:0009276 OMIM:231200Orphanet:274
Part of
Inherited bleeding disorder, platelet-typeSyndromic disease
Also known as
BSS · deficiency of platelet glycoprotein 1b · giant platelet disease · giant platelet disorder, isolated · giant platelet syndrome

Subtypes

All diseases Rare only
Disease Subtypes
Bernard-Soulier syndrome, type A2, autosomal dominant
GP1BA-related Bernard-Soulier syndrome
GP1BB-related Bernard-Soulier syndrome
GP9-related Bernard-Soulier syndrome

Rare disease

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