| Metadata | |
|---|---|
| ID | DOID:0060911 | 
| Name | karyomegalic interstitial nephritis | 
| Definition | An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3.  https://www.ncbi.nlm.nih.gov/pubmed/16678356, https://www.ncbi.nlm.nih.gov/pubmed/22772369  | 
			    
                        
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                                             DO_rare_slim  | 
                        
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                                         KIN [EXACT] KMIN [EXACT]  | 
                        
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| Subclass Logical Relationships | 
                            
	                             has material basis in some autosomal recessive inheritance  |