# achromatopsia

> human illness, a type of color blindness

**Wikidata**: [Q432396](https://www.wikidata.org/wiki/Q432396)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Achromatopsia)  
**Source**: https://4ort.xyz/entity/achromatopsia


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Mutation of ATF6 causes autosomal recessive achromatopsia
4. Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000118217/MONDO_0018852)
6. Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000144191/MONDO_0018852)
8. Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia
9. Genetic basis of total colourblindness among the Pingelapese islanders
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000170289/MONDO_0018852)
11. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000095464/MONDO_0018852)
12. [Identifiers.org](https://registry.identifiers.org/registry/doid)
13. Quora
14. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)