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DO Term : Glanzmann's thrombasthenia [DOID:2219] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32.
  • synonyms:
  • GARD:2478,
  • 273800,
  • OMIM:273800,
  • BDPLT2,
  • Glanzmann thrombasthenia,
  • deficiency of GP IIb-IIIa complex,
  • Thrombocytasthenia,
  • MESH:D013915,
  • UMLS_CUI:C0040015,
  • SNOMEDCT_US_2023_03_01:32942005,
  • thrombasthenia of Glanzmann and Naegeli,
  • platelet glycoprotein IIb-IIIa deficiency,
  • ICD10CM:D69.1,
  • ORDO:849,
  • Glycoprotein IIb/IIIa defect,
  • NCI:C61249,
  • platelet-type bleeding disorder 2,
  • deficiency of glycoprotein complex IIb-IIIa,
  • deficiency of platelet fibrinogen receptor
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