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 ) |