# Bietti crystalline corneoretinal dystrophy

> Human disease

**Wikidata**: [Q4904691](https://www.wikidata.org/wiki/Q4904691)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Bietti's_crystalline_dystrophy)  
**Source**: https://4ort.xyz/entity/bietti-crystalline-corneoretinal-dystrophy


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_da577a4b-5c65-43fa-9a03-b275eaacb6eb-2021-04-01T160000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000145476/MONDO_0008865)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)