Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0060914 )
Relationships
is a type of
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Genes Involved
Zebrafish Models