proteosome-associated autoinflammatory syndrome 2 Disease Ontology Browser

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Disease Ontology Browser

proteosome-associated autoinflammatory syndrome 2 (DOID:0060914)
Alliance: disease page
Synonyms: PRAAS2
Alt IDs: OMIM:618048
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.

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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