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

OMIM:PS256040
ORDO:324977

Ontology

Human Disease ( DOID:0060913 )

Relationships

is a type of: syndrome

syndrome 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

Citations