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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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:112240
UMLS:C4317154
UMLS:CN029402
MONDO:0007204
High level summary of knowledge for a disease, including descriptions and datasource references.