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DO Term : Quebec platelet disorder [DOID:0111050] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • factor V Quebec,
  • 601709,
  • GARD:8345,
  • BDPLT5,
  • ORDO:220436,
  • MESH:C536260,
  • UMLS_CUI:C1866423,
  • platelet-type bleeding disorder 5,
  • OMIM:601709
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