# cone dystrophy

> inherited ocular disorder characterized by the loss of cone cells

**Wikidata**: [Q147270](https://www.wikidata.org/wiki/Q147270)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Cone_dystrophy)  
**Source**: https://4ort.xyz/entity/cone-dystrophy


## References

1. Disease Ontology
2. A substitution of G to C in the cone cGMP-phosphodiesterase gamma subunit gene found in a distinctive form of cone dystrophy
3. Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders.
4. Mutations in the gene KCNV2 encoding a voltage-gated potassium channel subunit cause "cone dystrophy with supernormal rod electroretinogram" in humans
5. Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy
6. BabelNet
7. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
8. Monarch Disease Ontology release 2018-06-29
9. UMLS 2023