proteosome-associated autoinflammatory syndrome 4 Disease Ontology Browser

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Disease Ontology Browser

proteosome-associated autoinflammatory syndrome 4 (DOID:0060915)
Alliance: disease page
Synonyms: PRAAS4
Alt IDs: OMIM:619183
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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