FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term growth hormone insensitivity syndrome with immune dysregulation 1 ID (Ontology) DOID:0080836 (Human Disease)
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.
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 growth hormone insensitivity syndrome with immune dysregulation 1       1
 for disease ribbon | growth hormone insensitivity syndrome with immune dysregulation 1       1
 model of | growth hormone insensitivity syndrome with immune dysregulation 1       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 growth hormone insensitivity syndrome with immune dysregulation 1  1 rec.
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Is a autosomal recessive disease
syndrome
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GARD:3924
MIM:245590
ORDO:220465