Term Name: | growth hormone insensitivity syndrome with immune dysregulation 1 |
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Synonyms: | |
Definition: | A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21. |
Ontology: | Human Disease [DOID:0080836] ( DOID:0080836 ) |