Immunodeficiency 12
Disease ID: disease_node_13345
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| Dbxref | MIM:615468, ORDO:397964 |
|---|---|
| Subclassof | DOID_0111962, DOID_0050737 |
| Data Source | DOID |
| Synonyms | IMD12, combined immunodeficiency due to MALT1 deficiency |
| Doid Label | immunodeficiency 12 |
| Doid Description | A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13345 |
| Doid Id | DOID_0111988 |
| Label | Immunodeficiency 12 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Combined Immunodeficiency(ID:disease_node_13314) (Disease)