# Bardet-Biedl syndrome 14

> Bardet-Biedl syndrome that has material basis in homozygous mutation in the CEP290 gene on chromosome 12q21

**Wikidata**: [Q27674840](https://www.wikidata.org/wiki/Q27674840)  
**Source**: https://4ort.xyz/entity/bardet-biedl-syndrome-14


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)