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DO Term : isolated growth hormone deficiency type III [DOID:0060875] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1.
  • synonyms:
  • ICD10CM:E23.0,
  • X-linked IGHD,
  • congenital isolated GH deficiency type III,
  • X-linked isolated growth hormone deficiency,
  • congenital isolated growth hormone deficiency type III,
  • X-linked hypogammaglobulinemia and isolated growth hormone deficiency,
  • ORDO:231692,
  • IGHD III,
  • congenital IGHD type III,
  • Fleisher syndrome,
  • growth hormone deficiency with hypogammaglobulinemia,
  • X-linked agammaglobulinemia and isolated growth hormone deficiency,
  • 307200,
  • OMIM:307200,
  • GARD:3921
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Disease

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Ontology

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