# nephronophthisis 11

> nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1

**Wikidata**: [Q32147416](https://www.wikidata.org/wiki/Q32147416)  
**Source**: https://4ort.xyz/entity/nephronophthisis-11


## References

1. Disease Ontology
2. UniProt
3. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000164953/MONDO_0013302)
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)
6. Monarch Disease Ontology release 2018-06-29