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DO Term : platelet-type bleeding disorder 18 [DOID:0111051] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13.
  • synonyms:
  • bleeding disorder due to CalDAG-GEFI deficiency,
  • BDPLT18,
  • 615888,
  • ICD10CM:D69.1,
  • OMIM:615888,
  • bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency,
  • ORDO:420566
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