Job Syndrome
Disease ID: disease_node_4401
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| Dbxref | GARD:6800, MESH:D007589, MIM:147060, NCI:C126342, NCI:C126343, ORDO:2314, UMLS_CUI:C1968689, UMLS_CUI:C2936739 |
|---|---|
| Subclassof | DOID_0050736, DOID_0080545 |
| Data Source | DOID, MESH |
| Synonyms | Job syndrome, Job's syndrome, STAT3 Hyper IgE syndrome, hyperimmunoglobulin E syndrome |
| Mesh Id | D007589 |
| Mesh Label | Job Syndrome |
| Mesh Subclassof | D010585, D000081207 |
| Doid Label | hyper IgE recurrent infection syndrome 1 |
| Doid Description | A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21. nomenclature update Oct 2024 [LS]. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_4401 |
| Doid Id | DOID_3261 |
| Label | Job Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Hyper Ige Syndrome(ID:disease_node_17338) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)