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Human Disease
Quebec platelet disorder
- Term ID
- DOID:0111050
- Synonyms
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- 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. (2)
- References
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- GARD:8345
- MESH:C536260
- MIM:601709
- ORDO:220436
- UMLS_CUI:C1866423
- Ontology
- Human Disease ( DOID:0111050 )
- is a type of
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Genes Involved
Zebrafish Models