Proteosome-Associated Autoinflammatory Syndrome 4
Disease ID: disease_node_15597
Connections displayed (default: 10).
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| Dbxref | MIM:619183 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060913 |
| Data Source | DOID |
| Synonyms | PRAAS4 |
| Doid Label | proteosome-associated autoinflammatory syndrome 4 |
| Doid Description | A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_15597 |
| Doid Id | DOID_0060915 |
| Label | Proteosome-Associated Autoinflammatory Syndrome 4 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Proteosome-Associated Autoinflammatory Syndrome(ID:disease_node_15594) (Disease)