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Quebec platelet disorder
Summary
- Synonym
-
- 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.
- Super Class
- blood platelet disease
External Links
- Disease Ontology
- DOID:0111050
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
