proteosome-associated autoinflammatory syndrome

Term ID

DOID:0060913

Synonyms

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. https://pubmed.ncbi.nlm.nih.gov/25521013/

References

MIM:PS256040
ORDO:324977

Ontology

Human Disease ( DOID:0060913 )

Relationships

is a type of: autoinflammatory disease

autoinflammatory disease Show first 5 Terms
has subtype: proteasome-associated autoinflammatory syndrome 1 proteasome-associated autoinflammatory syndrome 3 proteosome-associated autoinflammatory syndrome 2 proteosome-associated autoinflammatory syndrome 4 proteosome-associated autoinflammatory syndrome 5

proteasome-associated autoinflammatory syndrome 1 proteasome-associated autoinflammatory syndrome 3 proteosome-associated autoinflammatory syndrome 2 proteosome-associated autoinflammatory syndrome 4 proteosome-associated autoinflammatory syndrome 5 Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models