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 type A2 ID (Ontology) DOID:0111059 (Human Disease)
Definition 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.
Also Known As "BSSA2"
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 Genes
 Bernard-Soulier syndrome type A2       1
 for disease ribbon | Bernard-Soulier syndrome type A2       1
 model of | Bernard-Soulier syndrome type A2       1
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autosomal recessive disease__
blood coagulation disease____|
                             Bernard-Soulier syndrome
                              |__Bernard-Soulier syndrome type A2  1 rec.
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Synonyms
  • "BSSA2" EXACT OMO:0003012
Secondary IDs
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MIM:153670