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Disease Ontology Browser
Crouzon syndrome (DOID:2339)
Alliance: disease page
Synonyms: Craniofacial Dysostosis; Crouzon's disease
Alt IDs: OMIM:123500, ICD10CM:Q75.1, MESH:D003394, NCI:C84653, UMLS_CUI:C0010273
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.

Disease References using Mouse Models (6)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory