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DO Term : hyper IgE recurrent infection syndrome 1 [DOID:3261] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.
  • synonyms:
  • UMLS_CUI:C1968689,
  • 147060,
  • OMIM:147060,
  • ORDO:2314,
  • hyperimmunoglobulin E syndrome,
  • MESH:D007589,
  • NCI:C126342,
  • Job syndrome,
  • Job's syndrome,
  • STAT3 Hyper IgE syndrome,
  • UMLS_CUI:C2936739,
  • GARD:6800,
  • NCI:C126343
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