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Human Disease

Crouzon syndrome

Term ID
DOID:2339
Synonyms
  • 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
  • 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 )
Relationships
is a type of
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Genes Involved
Zebrafish Models