Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1
Disease ID: disease_node_20294
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| Dbxref | GARD:3924, MIM:245590, ORDO:220465 |
|---|---|
| Subclassof | DOID_225, DOID_0050737 |
| Data Source | DOID |
| Doid Label | growth hormone insensitivity syndrome with immune dysregulation 1 |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20294 |
| Doid Id | DOID_0080836 |
| Label | Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Syndrome(ID:disease_node_7213) (Disease)