Version: 8.0.0
Date: Tue Jan 28 2025
proteosome-associated autoinflammatory syndrome 2
DOID:0060914
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

proteosome-associated autoinflammatory syndrome 2

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
Cross References
Parent Terms
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None
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