Search Ontology:
Human Disease
Crouzon syndrome
- Term ID
- DOID:2339
- Synonyms
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- Craniofacial Dysostosis
- Crouzon's disease
- 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. (3)
- References
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- GARD:6206
- ICD10CM:Q75.1
- MESH:D003394
- MIM:123500
- NCI:C84653
- SNOMEDCT_US_2023_03_01:28861008
- UMLS_CUI:C0010273
- Ontology
- Human Disease ( DOID:2339 )
- is a type of
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Genes Involved
Zebrafish Models