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Disease Ontology Browser
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 degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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11/12/2024
MGI 6.24 		The Jackson Laboratory