|Dataset||HPO Gene-Disease Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
2 genes associated with the craniofacial dysostosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.