# Klippel-Feil syndrome

> physical disorder that has material basis in abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra

**Wikidata**: [Q1774751](https://www.wikidata.org/wiki/Q1774751)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Klippel–Feil_syndrome)  
**Source**: https://4ort.xyz/entity/klippel-feil-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly
5. Mutations in GDF6 are associated with vertebral segmentation defects in Klippel-Feil syndrome
6. Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies
7. BabelNet
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)
9. Human Phenotype Ontology release 2018-03-08
10. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)