| 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  |