# spondylocostal dysostosis

> dysostosis that results in abnormal development located in vertebrae or located in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together

**Wikidata**: [Q4821698](https://www.wikidata.org/wiki/Q4821698)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Spondylocostal_dysostosis)  
**Source**: https://4ort.xyz/entity/spondylocostal-dysostosis


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6
4. Mutation of HAIRY-AND-ENHANCER-OF-SPLIT-7 in humans causes spondylocostal dysostosis
5. Mutation of the LUNATIC FRINGE Gene in Humans Causes Spondylocostal Dysostosis with a Severe Vertebral Phenotype
6. A Gene for Autosomal Recessive Spondylocostal Dysostosis Maps to 19q13.1-q13.3
7. Mutated MESP2 Causes Spondylocostal Dysostosis in Humans
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)