Immunodeficiency 46
Disease ID: disease_node_13303
Connections displayed (default: 10).
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| Dbxref | MIM:616740, ORDO:476113, SNOMEDCT_US_2023_09_01:1179288008, UMLS_CUI:C5568133 |
|---|---|
| Subclassof | DOID_628, DOID_0050737 |
| Data Source | DOID |
| Synonyms | CID due to TFRC deficiency, IMD46, TFRC-related combined immunodeficiency, combined immunodeficiency due to TFRC deficiency |
| Doid Label | immunodeficiency 46 |
| Doid Description | A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13303 |
| Doid Id | DOID_0111948 |
| Label | Immunodeficiency 46 |
- 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)