X-Linked Lymphoproliferative Syndrome 2
Disease ID: disease_node_20429
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| Dbxref | GARD:10916, ICD10CM:D82.3, MIM:300635 |
|---|---|
| Subclassof | DOID_0080012, DOID_0060704 |
| Data Source | DOID |
| Synonyms | XIAP deficiency, XLP2 |
| Doid Label | X-linked lymphoproliferative syndrome 2 |
| Doid Description | A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_20429 |
| Doid Id | DOID_0060706 |
| Label | X-Linked Lymphoproliferative Syndrome 2 |
- 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)