FB2025_05 , released December 11, 2025

CV Term Report

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General Information
Term	proteosome-associated autoinflammatory syndrome	ID (Ontology)	DOID:0060913 (Human Disease)
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.
Comment
Links to External Ontologies
	DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
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Spanning Tree (Parents/Children)

  primary immunodeficiency disease
   |__autoinflammatory disease
       |__proteosome-associated autoinflammatory syndrome  8 rec.
           |__proteasome-associated autoinflammatory syndrome 1 2 rec.
           |__proteasome-associated autoinflammatory syndrome 3 1 rec.
           |__proteosome-associated autoinflammatory syndrome 2 1 rec.
           |__proteosome-associated autoinflammatory syndrome 4 1 rec.
           |__proteosome-associated autoinflammatory syndrome 5 3 rec.

Spanning Tree View Settings
Parents/Children View Depth	Show hierarchy levels: for parents, for children
Relationships
Is a	autoinflammatory disease
Part of
Synonyms & Secondary IDs
Synonyms

Secondary IDs

External Crossreferences & Linkouts
	MIM:PS256040 ORDO:324977