# Meckel syndrome 2

> Meckel syndrome that has material basis in an autosomal recessive mutation of TMEM216 on chromosome 11q12.2

**Wikidata**: [Q50349681](https://www.wikidata.org/wiki/Q50349681)  
**Source**: https://4ort.xyz/entity/meckel-syndrome-2


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)