# achromatopsia 3

> achromatopsia that has material basis in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2

**Wikidata**: [Q27677584](https://www.wikidata.org/wiki/Q27677584)  
**Source**: https://4ort.xyz/entity/achromatopsia-3


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_aa7bad05-3d4d-4a69-b4e9-82f9224a77f4-2021-10-07T160000.000Z)
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)