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