FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term proteosome-associated autoinflammatory syndrome 5 ID (Ontology) DOID:0060919 (Human Disease)
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.
Also Known As "PRAAS5"
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 Genes
 proteosome-associated autoinflammatory syndrome 5       3
 for disease ribbon | proteosome-associated autoinflammatory syndrome 5       3
 model of | proteosome-associated autoinflammatory syndrome 5       3
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autosomal genetic disease
 |__autosomal recessive disease______________________
autoinflammatory disease                             |
 |__proteosome-associated autoinflammatory syndrome__|
                                                     proteosome-associated autoinflammatory syndrome 5  3 rec.
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Is a autosomal recessive disease
proteosome-associated autoinflammatory syndrome
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Synonyms
  • "PRAAS5" EXACT OMO:0003012
Secondary IDs
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MIM:619175