Immunodeficiency 65
Disease ID: disease_node_20443
Connections displayed (default: 10).
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| Dbxref | MIM:618648 |
|---|---|
| Subclassof | DOID_0050737, DOID_612 |
| Data Source | DOID |
| Synonyms | IMD65, immunodeficiency 65, susceptibility to viral infections |
| Doid Label | immunodeficiency 65 |
| Doid Description | A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20443 |
| Doid Id | DOID_0111978 |
| Label | Immunodeficiency 65 |
- Outgoing r'ship
SUBCLASS_OFto/from Immunologic Deficiency Syndromes(ID:disease_node_4256) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)