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DOID:0111050 - Quebec platelet disorder
Disease Ontology 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.
Synonyms: BDPLT5, factor V Quebec, platelet-type bleeding disorder 5,
Xenbase Genes
:
| MONDO:0011136 - Quebec platelet disorder |
| OMIM:601709 - QUEBEC PLATELET DISORDER; QPD |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
blood platelet disease (is_a)