Proteasome-Associated Autoinflammatory Syndrome 3
Disease ID: disease_node_15596
Connections displayed (default: 10).
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| Dbxref | MIM:617591 |
|---|---|
| Subclassof | DOID_0050737, DOID_0080578, DOID_0060913 |
| Data Source | DOID |
| Synonyms | PRAAS3 |
| Doid Label | proteasome-associated autoinflammatory syndrome 3 |
| Doid Description | A proteasome-associated autoinflammatory syndrome that is characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression pattern with onset in early infancy and that has_material_basis_in a homozygous mutation in the PSMB4 gene on chromosome 1q21 or a heterozygous mutation in the PSMB4 gene and a heterozygous mutation in the PSMB9 gene on chromosome 6p21. |
| Has Material Basis In | GENO_0000148, GENO_0000930 |
| Disease Node Id | disease_node_15596 |
| Doid Id | DOID_0060916 |
| Label | Proteasome-Associated Autoinflammatory Syndrome 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Digenic Disease(ID:disease_node_13627) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Proteosome-Associated Autoinflammatory Syndrome(ID:disease_node_15594) (Disease)