| Metadata | |
|---|---|
| ID | DOID:0060913 |
| Name | proteosome-associated autoinflammatory syndrome |
| Definition | An autoinflammatory disease that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications. https://pubmed.ncbi.nlm.nih.gov/25521013/ |
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DO_rare_slim |
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