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MIRAGE
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
Disease Ontology
DOID:0060438
Mondo Disease Ontology
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ORDO
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
5034 P4HB prolyl 4-hydroxylase subunit beta
9871 SEC24D SEC24 homolog D, COPII coat complex component
Related Glycoprotein
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: April 7, 2025