Quebec platelet disorder (DOID:0111050)
Alliance: disease page
Synonyms: BDPLT5; factor V Quebec; platelet-type bleeding disorder 5
Alt IDs: OMIM:601709, MESH:C536260, ORDO:220436, UMLS_CUI:C1866423
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.