# nephronophthisis 3

> nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22

**Wikidata**: [Q32147357](https://www.wikidata.org/wiki/Q32147357)  
**Source**: https://4ort.xyz/entity/nephronophthisis-3


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)