growth hormone insensitivity syndrome with immune dysregulation 1 Disease Ontology Browser

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growth hormone insensitivity syndrome with immune dysregulation 1 (DOID:0080836)
Alliance: disease page
Alt IDs: OMIM:245590, ORDO:220465
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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