| Term Name: | proteosome-associated autoinflammatory syndrome |
|---|---|
| Synonyms: | |
| 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. |
| Ontology: | Human Disease [DOID:0060913] ( DOID:0060913 ) |