proteosome-associated autoinflammatory syndrome 2

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pomp

MIM:

MIM:109720 - BILIARY CIRRHOSIS, PRIMARY, 1; PBC1
MIM:618048 - PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

MIM:109720 - BILIARY CIRRHOSIS, PRIMARY, 1; PBC1

MIM:618048 - PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 2; PRAAS2

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)