Immunodeficiency 29
Disease ID: disease_node_20447
Connections displayed (default: 10).
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| Dbxref | MIM:614890, ORDO:319558 |
|---|---|
| Subclassof | DOID_0050737, DOID_612 |
| Data Source | DOID |
| Synonyms | IL12B deficiency, IMD29, MSMD due to complete IL12B deficiency, MSMD due to complete interleukin 12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency, Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency, immunodeficiency 29, mycobacteriosis |
| Doid Label | immunodeficiency 29 |
| Doid Description | A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20447 |
| Doid Id | DOID_0111950 |
| Label | Immunodeficiency 29 |
- Outgoing r'ship
SUBCLASS_OFto/from Immunologic Deficiency Syndromes(ID:disease_node_4256) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)