# nephronophthisis 15

> nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q

**Wikidata**: [Q32147492](https://www.wikidata.org/wiki/Q32147492)  
**Source**: https://4ort.xyz/entity/nephronophthisis-15


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)