Immunodeficiency 60
Disease ID: disease_node_13299
Connections displayed (default: 10).
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| Dbxref | MIM:618394, UMLS_CUI:C5193072 |
|---|---|
| Subclassof | DOID_0050736, DOID_628 |
| Data Source | DOID |
| Synonyms | BACH2-related immunodeficiency and autoimmunity, BRIDA, IMD60 |
| Doid Label | immunodeficiency 60 |
| Doid Description | A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_13299 |
| Doid Id | DOID_0111954 |
| Label | Immunodeficiency 60 |
- Outgoing r'ship
SUBCLASS_OFto/from Combined T Cell And B Cell Immunodeficiency(ID:disease_node_13297) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)