Version: 8.0.0
Date: Tue Jan 28 2025
proteosome-associated autoinflammatory syndrome 5
DOID:0060919
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

proteosome-associated autoinflammatory syndrome 5

Definition
A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22.
Synonyms
  • PRAAS5
Cross References
Parent Terms
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None
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