Immunodeficiency 37
Disease ID: disease_node_13304
Connections displayed (default: 10).
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| Dbxref | MIM:616098, UMLS_CUI:C4015195 |
|---|---|
| Subclassof | DOID_628, DOID_0050737 |
| Data Source | DOID |
| Synonyms | IMD37 |
| Doid Label | immunodeficiency 37 |
| Doid Description | A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the BCL10 gene on chromosome 1p22.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13304 |
| Doid Id | DOID_0111939 |
| Label | Immunodeficiency 37 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Combined T Cell And B Cell Immunodeficiency(ID:disease_node_13297) (Disease)