# karyomegalic interstitial nephritis

> 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

**Wikidata**: [Q32136929](https://www.wikidata.org/wiki/Q32136929)  
**Source**: https://4ort.xyz/entity/karyomegalic-interstitial-nephritis


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000198690/MONDO_0013898)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)