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DO Term : platelet-type bleeding disorder 17 [DOID:0111049] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ICD10CM:D69.1,
  • NCI:C84741,
  • MESH:D055652,
  • UMLS_CUI:C0272302,
  • BDPLT17,
  • 187900,
  • OMIM:187900,
  • SNOMEDCT_US_2023_03_01:51720005,
  • hereditary thrombasthenia-thrombocytopenia
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Ontology Term --> Direct parents