| Dataset | CTD Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. (Human Disease Ontology, DOID_2339) |
| External Link | http://ctdbase.org/detail.go?type=disease&acc=MESH:D003394 |
| Similar Terms | |
| Downloads & Tools |
1 genes/proteins associated with the disease Craniofacial Dysostosis from the curated CTD Gene-Disease Associations dataset.
| Symbol | Name | Standardized Value |
|---|---|---|
| FGFR2 | fibroblast growth factor receptor 2 | 2.88009 |
