# cone-rod dystrophy 20

> cone-rod dystrophy that has material basis in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21

**Wikidata**: [Q32146228](https://www.wikidata.org/wiki/Q32146228)  
**Source**: https://4ort.xyz/entity/cone-rod-dystrophy-20


## References

1. Disease Ontology
2. UniProt
3. Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. Monarch Disease Ontology release 2018-06-29