# renal coloboma syndrome

> autosomal dominant disease characterized by optic nerve coloboma and renal disease

**Wikidata**: [Q7133011](https://www.wikidata.org/wiki/Q7133011)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Papillorenal_syndrome)  
**Source**: https://4ort.xyz/entity/renal-coloboma-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000075891/MONDO_0007352)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)
7. KBpedia