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 2 ID (Ontology) DOID:0060914 (Human Disease)
Definition A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12.
Also Known As "PRAAS2"
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DO.org
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 Genes
 proteosome-associated autoinflammatory syndrome 2       1
 for disease ribbon | proteosome-associated autoinflammatory syndrome 2       1
 model of | proteosome-associated autoinflammatory syndrome 2       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease_______________________
autoinflammatory disease                             |
 |__proteosome-associated autoinflammatory syndrome__|
                                                     proteosome-associated autoinflammatory syndrome 2  1 rec.
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Is a autosomal dominant disease
proteosome-associated autoinflammatory syndrome
Part of
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Synonyms
  • "PRAAS2" EXACT OMO:0003012
Secondary IDs
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MIM:618048