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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

OMIM:PS256040

ORDO:324977

Subsets

DO_rare_slim

Parent Relationships

is_a syndrome

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