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 4 ID (Ontology) DOID:0060915 (Human Disease)
Definition A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11.
Also Known As "PRAAS4"
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 Genes
 proteosome-associated autoinflammatory syndrome 4       1
 for disease ribbon | proteosome-associated autoinflammatory syndrome 4       1
 model of | proteosome-associated autoinflammatory syndrome 4       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease______________________
autoinflammatory disease                             |
 |__proteosome-associated autoinflammatory syndrome__|
                                                     proteosome-associated autoinflammatory syndrome 4  1 rec.
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Is a autosomal recessive disease
proteosome-associated autoinflammatory syndrome
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Synonyms
  • "PRAAS4" EXACT OMO:0003012
Secondary IDs
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MIM:619183