X-Linked Immunodeficiency 74
Disease ID: disease_node_20005
Connections displayed (default: 10).
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| Dbxref | MIM:301051 |
|---|---|
| Subclassof | DOID_0080012, DOID_11200 |
| Data Source | DOID |
| Synonyms | IMD74, TLR7 deficiency, X-linked immunodeficiency 74,COVID-19-related, respiratory insufficiency due to SARS-CoV-2 viral infection |
| Doid Label | X-Linked immunodeficiency 74 |
| Doid Description | A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_20005 |
| Doid Id | DOID_0112063 |
| Label | X-Linked Immunodeficiency 74 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from T Cell Deficiency(ID:disease_node_20002) (Disease)