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Human Disease

proteosome-associated autoinflammatory syndrome 5

Term ID
DOID:0060919
Synonyms
  • PRAAS5
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. https://pubmed.ncbi.nlm.nih.gov/31783057/
References
Ontology
Human Disease   ( DOID:0060919 )
Relationships
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Genes Involved
Zebrafish Models