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Cole-Carpenter syndrome

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


Explore Associated Targets
Mondo Description Cole-Carpenter syndrome is an extremely rare form of bone dysplasia characterized by the features of osteogenesis imperfecta such as bone fragility associated with multiple fractures, bone deformities (metaphyseal irregularities and bowing of the long bones) and blue sclera, in association with growth failure, craniosynostosis, hydrocephalus, ocular proptosis, and distinctive facial features (e.g. frontal bossing, midface hypoplasia, and micrognathia).
Disease Ontology Description An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance.
Mondo Term and Equivalent IDs
MONDO:0016085:  Cole-Carpenter syndrome
GARD:0001425: 
MESH:C535963: 
NCIT:C130985: 
OMIMPS:112240: 
Orphanet:2050: 
UMLS:C1862178: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)