# cleidocranial dysplasia

> osteochondrodysplasia that has material basis in mutations in the RUNX2 gene which results in undeveloped or absent located in clavicle along with delayed closing of fontanels in the located in skull

**Wikidata**: [Q781618](https://www.wikidata.org/wiki/Q781618)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Cleidocranial_dysostosis)  
**Source**: https://4ort.xyz/entity/cleidocranial-dysplasia


## References

1. Disease Ontology
2. Freebase Data Dumps. 2013
3. Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
4. [Identifiers.org](https://registry.identifiers.org/registry/doid)
5. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)