# Joubert syndrome 1

> Joubert syndrome that has material basis in homozygous mutation in the INPP5E gene on chromosome 9q34

**Wikidata**: [Q32145579](https://www.wikidata.org/wiki/Q32145579)  
**Source**: https://4ort.xyz/entity/joubert-syndrome-1


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a5fb970a-8747-4c3e-8465-d8cb007c1428-2021-09-08T160000.000Z)
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)