# retinitis pigmentosa 48

> retinitis pigmentosa that has material basis in mutation in the GUCA1B gene on chromosome 6p21.1

**Wikidata**: [Q27677781](https://www.wikidata.org/wiki/Q27677781)  
**Source**: https://4ort.xyz/entity/retinitis-pigmentosa-48


## References

1. Disease Ontology
2. UniProt
3. Mutations in the gene coding for guanylate cyclase-activating protein 2 (GUCA1B gene) in patients with autosomal dominant retinal dystrophies
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. Monarch Disease Ontology release 2018-06-29