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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Sex Chromosome Disorders > Orofaciodigital Syndromes
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Sex Chromosome Disorders > Orofaciodigital Syndromes
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Orofaciodigital Syndromes
Musculoskeletal Diseases > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Orofaciodigital Syndromes
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Musculoskeletal Abnormalities > Craniofacial Abnormalities > Orofaciodigital Syndromes
Musculoskeletal Diseases > Bone Diseases > Bone Diseases, Developmental > Dysostoses > Orofaciodigital Syndromes

Terme préférentiel

Orofaciodigital Syndromes  

Type

  • mesh:Descriptor

Définition

  • Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.

Concept générique

Synonyme(s)

  • Dysplasia Linguofacialis
  • Oral-Facial-Digital Syndrome
  • Orodigitofacial Dysostosis
  • Orodigitofacial Syndrome
  • Oro-Facio-Digital Syndrome
  • Orofaciodigital Syndrome

Qualificatif(s) autorisé(s)

Traductions

  • Syndromes oro-facio-digitaux

    français

  • Dysostoses oro-digito-faciales
  • Syndrome oro-digito-facial
  • Syndrome oro-facio-digital
  • Syndrome orodigitofacial

URI

http://data.loterre.fr/ark:/67375/JVR-RKM32GJJ-B

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 30/06/2016