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Cole-Carpenter syndrome 1

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene.
Uniprot Description A form of Cole-Carpenter syndrome, a disorder characterized by features of osteogenesis imperfecta such as bone deformities and severe bone fragility with frequent fractures, in association with craniosynostosis, ocular proptosis, hydrocephalus, growth failure and distinctive facial features. Craniofacial findings include marked frontal bossing, midface hypoplasia, and micrognathia. Despite the craniosynostosis and hydrocephalus, intellectual development is normal. CLCRP1 inheritance is autosomal dominant.
Mondo Term and Equivalent IDs
MONDO:0007204:  Cole-Carpenter syndrome 1
UMLS:C4317154: 
UMLS:CN029402: