| Metadata | |
|---|---|
| ID | DOID:0080837 |
| Name | growth hormone insensitivity syndrome with immune dysregulation 2 |
| 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. https://pubmed.ncbi.nlm.nih.gov/29844444/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |