# Joubert syndrome with orofaciodigital defect

> Joubert syndrome subtype with orofaciodigital defect

**Wikidata**: [Q3508580](https://www.wikidata.org/wiki/Q3508580)  
**Source**: https://4ort.xyz/entity/joubert-syndrome-with-orofaciodigital-defect


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000197603/MONDO_0010176)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000197603/Orphanet_2754)
7. OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.
8. A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium
9. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin
10. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000046651/Orphanet_2754)
11. TCTN3 mutations cause Mohr-Majewski syndrome
12. [Identifiers.org](https://registry.identifiers.org/registry/doid)