Version: 8.0.0
Date: Tue Jan 28 2025
2 results
Disease Disease Group: monogenic disease Genes: STAT5B (Hsa)

growth hormone insensitivity syndrome with immune dysregulation 1

Disease
Source: DOID:0080836
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.
Genes: STAT5B (Hsa)

growth hormone insensitivity syndrome with immune dysregulation 2

Disease
Source: DOID:0080837
Definition: A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21.
Genes: STAT5B (Hsa)