FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Crouzon syndrome ID (Ontology) DOID:2339 (Human 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.
Also Known As "Craniofacial Dysostosis"
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 Genes
 Crouzon syndrome       2
 for disease ribbon | Crouzon syndrome       2
 model of | Crouzon syndrome       2
Spanning Tree (Parents/Children)
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  synostosis
   |__craniosynostosis
       |__Crouzon syndrome  2 rec.
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Is a craniosynostosis
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Synonyms
  • "Craniofacial Dysostosis" EXACT
    "Crouzon's disease" RELATED
Secondary IDs
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GARD:6206
ICD10CM:Q75.1
MESH:D003394
MIM:123500
NCI:C84653
SNOMEDCT_US_2023_03_01:28861008
UMLS_CUI:C0010273