Immunodeficiency 63
Disease ID: disease_node_20458
Connections displayed (default: 10).
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| Dbxref | MIM:618495, UMLS_CUI:C5193126 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080710 |
| Data Source | DOID |
| Synonyms | IL2RB deficiency, IMD63, immunodeficiency 63 with lymphoproliferation and autoimmunity |
| Doid Label | immunodeficiency 63 |
| Doid Description | A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20458 |
| Doid Id | DOID_0111997 |
| Label | Immunodeficiency 63 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from T Cell And Nk Cell Immunodeficiency(ID:disease_node_20456) (Disease)