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DOID:2339 - Crouzon syndrome
Disease Ontology Definition: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.
Synonyms: Craniofacial Dysostosis, Crouzon's disease
Xenbase Genes
:
erf,
fgfr2
| MONDO:0007405 - Crouzon syndrome |
| MIM:123500 - CROUZON SYNDROME |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
craniosynostosis (is_a)