Term Name: | proteosome-associated autoinflammatory syndrome 5 |
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Synonyms: | PRAAS5 |
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. |
Ontology: | Human Disease [DOID:0060919] ( DOID:0060919 ) |