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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
  • gray platelet syndrome
described by
id
  • DOID:0111044
database_cross_reference
  • GARD:2562
  • ICD10CM:D69.1
  • MESH:D055652
  • NCI:C84741
  • OMIM:139090
  • ORDO:721
  • SNOMEDCT_US_2021_09_01:51720005
  • UMLS_CUI:C0272302
has_exact_synonym
  • BDPLT4 (en)
  • GPS (en)
  • platelet alpha-granule deficiency (en)
  • platelet-type bleeding disorder 4 (en)
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.
is first of
is topic of
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