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growth hormone insensitivity syndrome

Disease Summary
Associated Targets (7)
Tclin

3

Tbio

3

Tchem

1


Explore Associated Targets
Mondo Description Growth hormone insensitivity syndrome (GHIS) is a group of diseases characterized by marked short stature associated with normal or elevated growth hormone (GH) concentrations, which fail to respond to exogenous GH administration. GHIS comprises growth delay due to IGF-1 deficiency, growth delay due to IGF-1 resistance, Laron syndrome, short stature due to STAT5b deficiency and primary acid-labile subunit (ALS) deficiency.
Mondo Term and Equivalent IDs
MONDO:0015892:  growth hormone insensitivity syndrome
GARD:0003924: 
NCIT:C129867: 
Orphanet:181393: 
UMLS:C0271568: 
UMLS:C4318479: 
UMLS:CN200504: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Target Novelty (Tin-x)
No novelty measurements found