# Knobloch syndrome

> Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele

**Wikidata**: [Q17332514](https://www.wikidata.org/wiki/Q17332514)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Knobloch_syndrome)  
**Source**: https://4ort.xyz/entity/knobloch-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. [gene2phenotype. 2017](https://www.ebi.ac.uk/gene2phenotype/gfd?search_type=gfd&dbID=2396)
3. UniProt
4. A gene which causes severe ocular alterations and occipital encephalocele (Knobloch syndrome) is mapped to 21q22.3.