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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • Quebec platelet disorder
described by
id
  • DOID:0111050
database_cross_reference
  • GARD:8345
  • MESH:C536260
  • OMIM:601709
  • ORDO:220436
  • UMLS_CUI:C1866423
has_exact_synonym
  • BDPLT5 (en)
  • factor V Quebec (en)
  • platelet-type bleeding disorder 5 (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is first of
is topic of
is annotatedSource of
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