# nephronophthisis 9

> nephronophthisis that has material basis in homozygous mutation in the NEK8 gene on chromosome 17q11

**Wikidata**: [Q32147448](https://www.wikidata.org/wiki/Q32147448)  
**Source**: https://4ort.xyz/entity/nephronophthisis-9


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)