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DOID:0060914 - proteosome-associated autoinflammatory syndrome 2
Disease Ontology 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.
Synonyms: PRAAS2,
Xenbase Genes
:
pomp
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
proteosome-associated autoinflammatory syndrome (is_a)