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disease > genetic disease > hereditary disease > Pfeiffer syndrome
disease > congenital disease > malformation > acrocephalosyndactylia > Pfeiffer syndrome
disease > genetic disease > hereditary disease > acrocephalosyndactylia > Pfeiffer syndrome
... > disease > congenital disease > malformation > dysostosis > acrocephalosyndactylia > Pfeiffer syndrome
disease > diseases of the osteoarticular system > dysostosis > acrocephalosyndactylia > Pfeiffer syndrome
disease > diseases of the osteoarticular system > skull disease > acrocephalosyndactylia > Pfeiffer syndrome

Preferred term

Pfeiffer syndrome  

Definition(s)

  • Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis) which affects the shape of the head and face. (Wikipedia)

Broader concept(s)

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URI

http://data.loterre.fr/ark:/67375/VH8-NFWCC1N5-Q

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