# Joubert syndrome with renal defect

> Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy

**Wikidata**: [Q32145858](https://www.wikidata.org/wiki/Q32145858)  
**Source**: https://4ort.xyz/entity/joubert-syndrome-with-renal-defect


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000144061/MONDO_0012308)
6. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. UMLS 2023