# nephronophthisis-like nephropathy 1

> nephronophthisis that has material basis in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2

**Wikidata**: [Q32147402](https://www.wikidata.org/wiki/Q32147402)  
**Source**: https://4ort.xyz/entity/nephronophthisis-like-nephropathy-1


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)