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DO Term : platelet-type bleeding disorder 16 [DOID:0060691] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.
  • synonyms:
  • autosomal dominant Glanzmann thrombasthenia,
  • OMIM:187800,
  • autosomal dominant thrombasthenia of Glanzmann and Naegeli,
  • ORDO:140957,
  • ICD10CM:D69.4,
  • 187800
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