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.

ORPHA:314802

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: C5190814
MeSH: -
GARD: -
MedDRA: -

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Short stature due to partial GHR deficiency

ORPHA:314802

A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

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