FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Quebec platelet disorder ID (Ontology) DOID:0111050 (Human Disease)
Definition A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22.
Also Known As "BDPLT5" ; "factor V Quebec" ; "platelet-type bleeding disorder 5"
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 Quebec platelet disorder       1
 for disease ribbon | Quebec platelet disorder       1
 model of | Quebec platelet disorder       1
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  blood coagulation disease
   |__blood platelet disease
       |__Quebec platelet disorder  1 rec.
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Is a blood platelet disease
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Synonyms
  • "BDPLT5" EXACT OMO:0003012
    "factor V Quebec" EXACT
    "platelet-type bleeding disorder 5" EXACT
Secondary IDs
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GARD:8345
MESH:C536260
MIM:601709
ORDO:220436
UMLS_CUI:C1866423