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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Chromosome Disorders > Branchio-Oto-Renal Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Chromosome Disorders > Branchio-Oto-Renal Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Branchio-Oto-Renal Syndrome

Terme préférentiel

Branchio-Oto-Renal Syndrome  

Type

  • mesh:Descriptor

Définition

  • An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)

Concept générique

Synonyme(s)

  • BOR Syndrome
  • Branchio-Otorenal Dysplasia
  • Branchiootorenal Dysplasia
  • Branchio-Otorenal Syndrome
  • Melnick-Fraser Syndrome

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-DZD0TKDJ-5

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RDF/XML TURTLE JSON-LD Date de création 10/06/1996, dernière modification le 17/05/2019