# medullary cystic kidney disease

> inherited form of cystic kidney disease leading to fibrosis and impaired renal function that is caused by mutations in the UMOD gene, which encodes uromodulin/Tamm-Horsfall mucoprotein

**Wikidata**: [Q1916694](https://www.wikidata.org/wiki/Q1916694)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Medullary_cystic_kidney_disease)  
**Source**: https://4ort.xyz/entity/medullary-cystic-kidney-disease


## References

1. Monarch Disease Ontology release 2018-06-29
2. Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy
3. BabelNet
4. UMLS 2023
5. [Source](https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx)