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short stature due to GHSR deficiency

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Short stature due to GHSR deficiency is a rare, genetic, endocrine growth disease, resulting from growth hormone secretagogue receptor (GHSR) deficiency, characterized by postnatal growth delay that results in short stature (less than -2 SD). The pituitary gland is typically without morphological changes, although anterior pituitary gland hypoplasia has been reported.
Uniprot Description A disorder characterized by partial growth hormone deficiency resulting in growth delay and short stature, sometimes associated with recurrent episodes of abdominal pain, vomiting, ketosis and hypoglycemia.
Mondo Term and Equivalent IDs
MONDO:0014403:  short stature due to GHSR deficiency
Orphanet:314811: 
SCTID:766817004: