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DO Term : platelet-type bleeding disorder 8 [DOID:0060692] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q.
  • synonyms:
  • 609821,
  • ICD10CM:D69.8,
  • ORDO:36355,
  • ADP platelet receptor P2Y12 defect,
  • OMIM:609821,
  • P2Y12 defect
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