Autoimmune Lymphoproliferative Syndrome Type 2B
Disease ID: disease_node_13532
Connections displayed (default: 10).
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| Dbxref | ICD10CM:D47.9, MIM:607271, ORDO:275517 |
|---|---|
| Subclassof | DOID_6688, DOID_0050737 |
| Data Source | DOID |
| Synonyms | ALPS with recurrent viral infections, ALPS2B, CEDS, Caspase 8 deficiency, Caspase 8 deficiency syndrome, Caspase eight deficiency state, autoimmune lymphoproliferative syndrome type IIB, autoimmune lymphoproliferative syndrome with recurrent viral infections |
| Doid Label | autoimmune lymphoproliferative syndrome type 2B |
| Doid Description | An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_13532 |
| Doid Id | DOID_0110116 |
| Label | Autoimmune Lymphoproliferative Syndrome Type 2B |
- Outgoing r'ship
SUBCLASS_OFto/from Autoimmune Lymphoproliferative Syndrome(ID:disease_node_12281) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)