# cone-rod dystrophy 5

> cone-rod dystrophy that has material basis in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1

**Wikidata**: [Q32146011](https://www.wikidata.org/wiki/Q32146011)  
**Source**: https://4ort.xyz/entity/cone-rod-dystrophy-5


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)