| Metadata | |
|---|---|
| ID | DOID:0060913 |
| Name | proteosome-associated autoinflammatory syndrome |
| Definition | A syndrome 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/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a syndrome |