Lymphoproliferative Syndrome 1
Disease ID: disease_node_20435
Connections displayed (default: 10).
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| Dbxref | ICD10CM:D47.9, MIM:613011 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060704 |
| Data Source | DOID |
| Synonyms | LPFS1 |
| Doid Label | lymphoproliferative syndrome 1 |
| Doid Description | A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32. |
| Existence Starts During | HP_0011463 |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20435 |
| Doid Id | DOID_0060707 |
| Label | Lymphoproliferative Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Lymphoproliferative Syndrome(ID:disease_node_20430) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)