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