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growth hormone insensitivity with immune dysregulation 1, autosomal recessive

Disease Summary
Associated Targets (1)
Tchem

1


Uniprot Description A disease characterized by short stature, growth hormone deficiency in the presence of normal to elevated circulating concentrations of growth hormone, resistance to hexogeneous growth hormone therapy, and recurrent infections.
Mondo Term and Equivalent IDs
MONDO:0100211:  growth hormone insensitivity with immune dysregulation 1, autosomal recessive
MESH:C537871: 
Orphanet:220465: 
SCTID:724179008: 
UMLS:C1855548: 
UMLS:C4510411: