Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2
Disease ID: disease_node_20106
Connections displayed (default: 10).
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| Dbxref | MIM:618985 |
|---|---|
| Subclassof | DOID_0050736, DOID_225 |
| Data Source | DOID |
| Doid Label | growth hormone insensitivity syndrome with immune dysregulation 2 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_20106 |
| Doid Id | DOID_0080837 |
| Label | Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)