| Metadata | |
|---|---|
| ID | DOID:0080836 |
| Name | growth hormone insensitivity syndrome with immune dysregulation 1 |
| 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. https://pubmed.ncbi.nlm.nih.gov/16787985/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a syndrome |