# nephronophthisis 4

> nephronophthisis that has material basis in mutation in the NPHP4 gene on chromosome 1p36.31

**Wikidata**: [Q32147374](https://www.wikidata.org/wiki/Q32147374)  
**Source**: https://4ort.xyz/entity/nephronophthisis-4


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. The gene mutated in juvenile nephronophthisis type 4 encodes a novel protein that interacts with nephrocystin
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_cafd0d51-dd5d-4691-8725-86518345b097-2021-02-10T170000.000Z)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)