Short stature due to partial GHR deficiency

Orpha code: 314802OMIM code: 604271

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.

Disease data
Classification

Disease

Synonyms
Short stature due to partial growth hormone receptor deficiency
Niski wzrost związany z częściowym niedoborem receptora hormonu wzrostu
ORPHA code
314802
OMIM code
604271
ICD10 code
E34.3
ICD11 code
-

No additional description.

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