Term Name: proteosome-associated autoinflammatory syndrome 2
Synonyms: PRAAS2
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.
Ontology: Human Disease [DOID:0060914]   ( DOID:0060914 )

Relationships
is a type of: autosomal dominant disease proteosome-associated autoinflammatory syndrome