# retinitis pigmentosa 50

> retinitis pigmentosa that has material basis in mutation in the BEST1 gene on chromosome 11q13

**Wikidata**: [Q27677794](https://www.wikidata.org/wiki/Q27677794)  
**Source**: https://4ort.xyz/entity/retinitis-pigmentosa-50


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)