proteosome-associated autoinflammatory syndrome 5

Summary

DOID:0060919 - proteosome-associated autoinflammatory syndrome 5

Disease Ontology Definition:A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22.

Synonyms: PRAAS5

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

MIM:

MIM:619175 - PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
MIM:619183 - PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4

MIM:619175 - PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5

MIM:619183 - PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), proteosome-associated autoinflammatory syndrome (is_a)