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Cole-Carpenter syndrome
Summary
- Definition
- An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.
- Super Class
- osteogenesis imperfecta
External Links
- Disease Ontology
- DOID:0060438
- Mondo Disease Ontology
- MeSH
- NCI Thesaurus
- ORDO
- OMIM
Related Genes
