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short stature due to partial GHR deficiency

Disease Summary
Associated Targets (3)
Tclin

2

Tbio

1


Mondo Description 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.
Uniprot Description A disease characterized by partial resistance to growth hormone resulting in short stature. Short stature is defined by a standing height more than 2 standard deviations below the mean (or below the 2.5 percentile) for sex and chronological age, compared with a well-nourished, healthy, genetically relevant population.
Mondo Term and Equivalent IDs
MONDO:0011420:  short stature due to partial GHR deficiency
MESH:C565805: 
Orphanet:314802: