Immunodeficiency 30
Disease ID: disease_node_20459
Connections displayed (default: 10).
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| Dbxref | MIM:614891, NCI:C176800, ORDO:319552, UMLS_CUI:C4013949 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080710 |
| Data Source | DOID |
| Synonyms | IMD30, MSMD due to complete IL12RB1 deficiency, MSMD due to complete interleukin 12 receptor beta 1 deficiency, Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency |
| Doid Label | immunodeficiency 30 |
| Doid Description | A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20459 |
| Doid Id | DOID_0111990 |
| Label | Immunodeficiency 30 |
- Outgoing r'ship
SUBCLASS_OFto/from T Cell And Nk Cell Immunodeficiency(ID:disease_node_20456) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)