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Concept information

Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Hypothalamic Diseases > Bardet-Biedl Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Ciliopathies > Bardet-Biedl Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Abnormalities, Multiple > Ciliopathies > Bardet-Biedl Syndrome
... > Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Eye Diseases, Hereditary > Retinal Degeneration > Retinal Dystrophies > Retinitis Pigmentosa > Bardet-Biedl Syndrome
... > Eye Diseases > Eye Diseases, Hereditary > Retinal Degeneration > Retinal Dystrophies > Retinitis Pigmentosa > Bardet-Biedl Syndrome
... > Eye Diseases > Retinal Diseases > Retinal Degeneration > Retinal Dystrophies > Retinitis Pigmentosa > Bardet-Biedl Syndrome

Terme préférentiel

Bardet-Biedl Syndrome  

Type

  • mesh:Descriptor

Définition

  • An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)

Concept générique

Concepts associés

Synonyme(s)

  • Laurence-Moon-Bardet-Biedl Syndrome

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-C69HH5VB-W

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RDF/XML TURTLE JSON-LD Date de création 08/11/1999, dernière modification le 15/06/2018