Immunodeficiency 52
Disease ID: disease_node_20009
Connections displayed (default: 10).
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| Dbxref | MIM:617514, ORDO:504523, SNOMEDCT_US_2023_03_01:1179284005, UMLS_CUI:C4479588 |
|---|---|
| Subclassof | DOID_11200, DOID_0050737 |
| Data Source | DOID |
| Synonyms | IMD52, severe combined immunodeficiency due to LAT deficiency |
| Doid Label | immunodeficiency 52 |
| Doid Description | A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20009 |
| Doid Id | DOID_0111983 |
| Label | Immunodeficiency 52 |
- Outgoing r'ship
SUBCLASS_OFto/from T Cell Deficiency(ID:disease_node_20002) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)