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DOID:0080837 - growth hormone insensitivity syndrome with immune dysregulation 2
Disease Ontology Definition:A syndrome that is characterized by short stature due to insensitivity to growth hormone and\nthat has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21.
Synonyms:
Xenbase Genes
![Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries](img/icons/info1.png)
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
syndrome (is_a)