# nephronophthisis 19

> nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22

**Wikidata**: [Q32147540](https://www.wikidata.org/wiki/Q32147540)  
**Source**: https://4ort.xyz/entity/nephronophthisis-19


## References

1. Disease Ontology
2. UniProt
3. DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. Monarch Disease Ontology release 2018-06-29