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Summary Literature (0)
DOID:0060438 - Cole-Carpenter syndrome

Disease Ontology Definition:An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.


In Mondo Disease Ontology:
MONDO:0016085 - Cole-Carpenter syndrome

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : p4hb, sec24d

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): osteogenesis imperfecta (is_a)