# bestrophinopathy

> Human disease

**Wikidata**: [Q18553385](https://www.wikidata.org/wiki/Q18553385)  
**Source**: https://4ort.xyz/entity/bestrophinopathy


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Biallelic mutation of BEST1 causes a distinct retinopathy in humans
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000167995/MONDO_0012733)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)