Search Ontology:
Human Disease
Cole-Carpenter syndrome
- Term ID
- DOID:0060438
- Synonyms
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- Definition
- An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. https://www.ncbi.nlm.nih.gov/pubmed/10842295
- References
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- MESH:C535963
- MIM:112240
- MIM:616294
- NCI:C130985
- ORDO:2050
- Ontology
- Human Disease ( DOID:0060438 )
- is a type of
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Genes Involved
Zebrafish Models