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Human Disease

Quebec platelet disorder

Term ID
DOID:0111050
Synonyms
  • BDPLT5
  • factor V Quebec
  • platelet-type bleeding disorder 5
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. (2)
References
Ontology
Human Disease   ( DOID:0111050 )
Relationships
is a type of
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Genes Involved
Zebrafish Models