proteosome-associated autoinflammatory syndrome 2

Term ID

DOID:0060914

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. https://pubmed.ncbi.nlm.nih.gov/29805043/

References

MIM:618048

Ontology

Human Disease ( DOID:0060914 )

Relationships

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

autosomal dominant disease proteosome-associated autoinflammatory syndrome Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models