Term Name: | proteosome-associated autoinflammatory syndrome 2 |
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Synonyms: | PRAAS2 |
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. |
Ontology: | Human Disease [DOID:0060914] ( DOID:0060914 ) |