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Concept information

disease > complex syndrome > craniofrontonasal syndrome
disease > congenital disease > malformation > craniosynostosis > craniofrontonasal syndrome
... > disease > congenital disease > malformation > dysostosis > craniosynostosis > craniofrontonasal syndrome
disease > diseases of the osteoarticular system > dysostosis > craniosynostosis > craniofrontonasal syndrome
disease > nervous system diseases > craniosynostosis > craniofrontonasal syndrome
disease > diseases of the osteoarticular system > skull disease > craniosynostosis > craniofrontonasal syndrome

Preferred term

craniofrontonasal syndrome  

Definition(s)

  • Craniofrontonasal dysplasia (craniofrontonasal syndrome, craniofrontonasal dysostosis, CFND) is a very rare X-linked malformation syndrome caused by mutations in the ephrin-B1 gene (EFNB1). (Wikipedia)

Broader concept(s)

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URI

http://data.loterre.fr/ark:/67375/VH8-P35S155W-4

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RDF/XML TURTLE JSON-LD Last modified 5/14/20