Immunodeficiency 40
Disease ID: disease_node_13301
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| Dbxref | GARD:12653, MIM:616433, NCI:C176799, ORDO:447737, SNOMEDCT_US_2023_03_01:1197479002, UMLS_CUI:C4225328 |
|---|---|
| Subclassof | DOID_628, DOID_0050737 |
| Data Source | DOID |
| Synonyms | DOCK2 deficiency, IMD40 |
| Doid Label | immunodeficiency 40 |
| Doid Description | A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13301 |
| Doid Id | DOID_0111951 |
| Label | Immunodeficiency 40 |
- 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)