Term Name: Quebec platelet disorder
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.
Ontology: Human Disease [DOID:0111050]   ( DOID:0111050 )

Relationships
is a type of: blood platelet disease