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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Muscular Dystrophies > Muscular Dystrophy, Oculopharyngeal
Musculoskeletal Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Muscular Dystrophy, Oculopharyngeal
... > Nervous System Diseases > Neuromuscular Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Muscular Dystrophy, Oculopharyngeal

Término preferido

Muscular Dystrophy, Oculopharyngeal  

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Tipo

  • mesh:Descriptor

Definición

  • An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.

Concepto genérico

Conceptos relacionados

Etiquetas alternativas

  • Oculopharyngeal Dystrophy
  • Oculopharyngeal Muscular Dystrophy
  • Progressive Muscular Dystrophy, Oculopharyngeal Type

En otras lenguas

URI

http://data.loterre.fr/ark:/67375/JVR-X6RPW81M-T

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RDF/XML TURTLE JSON-LD Creado 3/7/02, última modificación 8/7/13