FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term proteasome-associated autoinflammatory syndrome 3 ID (Ontology) DOID:0060916 (Human Disease)
Definition A proteasome-associated autoinflammatory syndrome that is characterized by nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression pattern with onset in early infancy and that has_material_basis_in a homozygous mutation in the PSMB4 gene on chromosome 1q21 or a heterozygous mutation in the PSMB4 gene and a heterozygous mutation in the PSMB9 gene on chromosome 6p21.
Also Known As "PRAAS3"
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DO.org
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 Genes
 proteasome-associated autoinflammatory syndrome 3       1
 for disease ribbon | proteasome-associated autoinflammatory syndrome 3       1
 model of | proteasome-associated autoinflammatory syndrome 3       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease______________________
autoinflammatory disease                             |
 |__proteosome-associated autoinflammatory syndrome__|
polygenic disease                                    |
 |__digenic disease__________________________________|
                                                     proteasome-associated autoinflammatory syndrome 3  1 rec.
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Is a autosomal recessive disease
proteosome-associated autoinflammatory syndrome
digenic disease
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Synonyms
  • "PRAAS3" EXACT OMO:0003012
Secondary IDs
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MIM:617591