# Cole-Carpenter syndrome

> osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance

**Wikidata**: [Q21127479](https://www.wikidata.org/wiki/Q21127479)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Cole–Carpenter_syndrome)  
**Source**: https://4ort.xyz/entity/cole-carpenter-syndrome


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Mutations in SEC24D, encoding a component of the COPII machinery, cause a syndromic form of osteogenesis imperfecta
4. Cole-Carpenter Syndrome Is Caused by a Heterozygous Missense Mutation in P4HB
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000185624/MONDO_0016085)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)