Term Name: | proteosome-associated autoinflammatory syndrome 4 |
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Synonyms: | PRAAS4 |
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. |
Ontology: | Human Disease [DOID:0060915] ( DOID:0060915 ) |