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

AttributesValues
type
subClassOf
label
  • isolated growth hormone deficiency type III
described by
id
  • DOID:0060875
database_cross_reference
  • GARD:3921
  • ICD10CM:E23.0
  • OMIM:307200
  • ORDO:231692
has_exact_synonym
  • Fleisher syndrome (en)
  • IGHD III (en)
  • congenital isolated growth hormone deficiency type III (en)
  • X-linked IGHD (en)
  • X-linked isolated growth hormone deficiency (en)
  • congenital IGHD type III (en)
  • congenital isolated GH deficiency type III (en)
  • growth hormone deficiency with hypogammaglobulinemia (en)
  • X-linked hypogammaglobulinemia and isolated growth hormone deficiency (en)
  • X-linked agammaglobulinemia and isolated growth hormone deficiency (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • 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.
is topic of
is annotatedSource of
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