proteosome-associated autoinflammatory syndrome

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Summary

Literature (0)

DOID:0060913 - proteosome-associated autoinflammatory syndrome

Disease Ontology 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.

Synonyms:

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: psmb8, psmb9, pomp, psmb4

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autoinflammatory disease (is_a), syndrome (is_a)