Preferred Label : STAT5B Deficiency;
Alternative definition : NICHD: Growth hormone insensitivity syndrome caused by mutation(s) in the STAT5B gene,
encoding signal transducer and activator of transcription 5B, a protein critical for
the transcription of growth hormone-dependent genes.;
NCI Metathesaurus CUI : CL514182;
Origin ID : C131130;
UMLS CUI : C4331952;
Semantic type(s)
- concept_is_in_subset
- disease_mapped_to_gene
