# cone-rod dystrophy 14

> cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has material basis in mutation in GUCA1A on chromosome 6p21.1

**Wikidata**: [Q55373614](https://www.wikidata.org/wiki/Q55373614)  
**Source**: https://4ort.xyz/entity/cone-rod-dystrophy-14


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000048545/MONDO_0011193)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)