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Proteosome-Associated Autoinflammatory Syndrome

Disease ID: disease_node_15594

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DbxrefMIM:PS256040, ORDO:324977
SubclassofDOID_0051000
Data SourceDOID
Doid Labelproteosome-associated autoinflammatory syndrome
Doid DescriptionAn 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.
Disease Node Iddisease_node_15594
Doid IdDOID_0060913
LabelProteosome-Associated Autoinflammatory Syndrome