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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
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C565805
OMIM:604271
Orphanet:314802
MONDO:0011420
High level summary of knowledge for a disease, including descriptions and datasource references.