Orphanet: Short stature due to partial GHR deficiency

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Short stature due to partial GHR deficiency

Disease definition

Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.


Classification level: Disorder
  • Synonym(s):
    • Short stature due to partial growth hormone receptor deficiency
  • Prevalence: Unknown
  • Inheritance: Unknown 
  • Age of onset: Childhood
  • ICD-10: E34.3
  • OMIM: 604271
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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