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Metadata
ID DOID:0060919
Name proteosome-associated autoinflammatory syndrome 5
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/
Xrefs

MIM:619175

Synonyms

PRAAS5 [EXACT]

Parent Relationships

is_a autosomal recessive disease

is_a proteosome-associated autoinflammatory syndrome

Subclass Logical Relationships

has material basis in some autosomal recessive inheritance

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