# nephronophthisis 2

> nephronophthisis that has material basis in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31

**Wikidata**: [Q32147339](https://www.wikidata.org/wiki/Q32147339)  
**Source**: https://4ort.xyz/entity/nephronophthisis-2


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_6bdaee2a-144d-4bdf-a5c7-78001b991174-2021-02-24T170000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000119509/MONDO_0011190)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)