Search Ontology:
Human Disease

proteosome-associated autoinflammatory syndrome

Term ID
DOID:0060913
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. https://pubmed.ncbi.nlm.nih.gov/25521013/
References
Ontology
Human Disease   ( DOID:0060913 )
Relationships
is a type of
has subtype
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Genes Involved
Zebrafish Models