OBO ID: DOID:0111050
Term Name: Quebec platelet disorder Search Ontology:
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 degredation 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:
OTHER Quebec platelet disorder PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PLAU Quebec platelet disorder 601709
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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