A rare genetic endocrine growth disease resulting from growth hormone secretagogue receptor (GHSR) deficiency. The disease has characteristics of postnatal growth delay that results in short stature. The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.
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Concept Alternate Designations
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Concept Designation Description
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Code Flag
3662719015
Short stature due to GHSR (growth hormone secretagogue receptor) deficiency
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false
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3662720014
Short stature due to growth hormone secretagogue receptor deficiency