| 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 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
KIN [EXACT] KMIN [EXACT] |
| Parent Relationships |