# Joubert syndrome 5

> Joubert syndrome that has material basis in mutation in the CEP290 gene on chromosome 12q21

**Wikidata**: [Q32145870](https://www.wikidata.org/wiki/Q32145870)  
**Source**: https://4ort.xyz/entity/joubert-syndrome-5


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)