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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
  • platelet-type bleeding disorder 17
described by
id
  • DOID:0111049
database_cross_reference
  • ICD10CM:D69.1
  • MESH:D055652
  • NCI:C84741
  • OMIM:187900
  • SNOMEDCT_US_2021_09_01:51720005
  • UMLS_CUI:C0272302
has_exact_synonym
  • BDPLT17 (en)
  • hereditary thrombasthenia-thrombocytopenia (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34.
is first of
is topic of
is annotatedSource of
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