Metadata | |
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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 | |
Synonyms |
PRAAS5 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |