FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Bernard-Soulier syndrome ID (Ontology) DOID:2217 (Human Disease)
Definition 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.
Also Known As "Bernard - Soulier thrombopathy" ; "Bernard Soulier syndrome" ; "Giant platelet syndrome" (for all, see Synonyms field below)
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 Genes
 Bernard-Soulier syndrome       1
 for disease ribbon | Bernard-Soulier syndrome       1
 model of | Bernard-Soulier syndrome       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
hematopoietic system disease     |
 |__blood coagulation disease____|
                                 Bernard-Soulier syndrome  1 rec.
                                  |__Bernard-Soulier syndrome type A2 1 rec.
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Is a autosomal recessive disease
blood coagulation disease
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Synonyms
  • "Bernard - Soulier thrombopathy" EXACT
    "Bernard Soulier syndrome" EXACT
    "Giant platelet syndrome" EXACT
    "Hemorrhagic dystrophic thrombocytopenia" EXACT
    "Thrombopathy, Bernard-Soulier" EXACT
Secondary IDs
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MESH:D001606
MIM:231200
NCI:C84595
ORDO:274
SNOMEDCT_US_2023_03_01:54569005
UMLS_CUI:C0005129