# achromatopsia 4

> achromatopsia that has material basis in homozygous or compound heterozygous mutation in the GNAT2 gene (139340) on chromosome 1p13

**Wikidata**: [Q27677587](https://www.wikidata.org/wiki/Q27677587)  
**Source**: https://4ort.xyz/entity/achromatopsia-4


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)