Lymphoproliferative Syndrome 2
Disease ID: disease_node_20434
Connections displayed (default: 10).
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| Dbxref | ICD10CM:D47.9, MIM:615122 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060704 |
| Data Source | DOID |
| Synonyms | CD27 deficiency, LPFS2 |
| Doid Label | lymphoproliferative syndrome 2 |
| Doid Description | A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_20434 |
| Doid Id | DOID_0060708 |
| Label | Lymphoproliferative Syndrome 2 |
- 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)