X-Linked Lymphoproliferative Syndrome 1
Disease ID: disease_node_20436
Connections displayed (default: 10).
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| Dbxref | GARD:7906, ICD10CM:D82.3, MIM:308240 |
|---|---|
| Subclassof | DOID_0080012, DOID_0060704 |
| Data Source | DOID |
| Synonyms | XLP1 |
| Doid Label | X-linked lymphoproliferative syndrome 1 |
| Doid Description | A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or maligt lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_20436 |
| Doid Id | DOID_0060705 |
| Label | X-Linked Lymphoproliferative Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Lymphoproliferative Syndrome(ID:disease_node_20430) (Disease)