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About: platelet-type bleeding disorder 18     Goto   Sponge   Distinct   Permalink

An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

AttributesValues
type
subClassOf
label
  • platelet-type bleeding disorder 18
described by
id
  • DOID:0111051
database_cross_reference
  • ICD10CM:D69.1
  • OMIM:615888
  • ORDO:420566
has_exact_synonym
  • BDPLT18 (en)
  • bleeding disorder due to CalDAG-GEFI deficiency (en)
  • bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is first of
is topic of
is annotatedSource of
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