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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Muscular Dystrophies > Muscular Dystrophy, Emery-Dreifuss > X-Linked Emery-Dreifuss Muscular Dystrophy
... > Musculoskeletal Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Muscular Dystrophy, Emery-Dreifuss > X-Linked Emery-Dreifuss Muscular Dystrophy
... > Nervous System Diseases > Neuromuscular Diseases > Muscular Diseases > Muscular Disorders, Atrophic > Muscular Dystrophies > Muscular Dystrophy, Emery-Dreifuss > X-Linked Emery-Dreifuss Muscular Dystrophy
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Genetic Diseases, X-Linked > Muscular Dystrophy, Emery-Dreifuss > X-Linked Emery-Dreifuss Muscular Dystrophy

Terme préférentiel

X-Linked Emery-Dreifuss Muscular Dystrophy  

Type

  • mesh:Descriptor

Définition

  • Emery-Dreifuss muscular dystrophy associated with mutations on emerin (EMD gene) or four and a half LIM domains 1 (FHL1 gene) both located on X chromosome.

Concept générique

Synonyme(s)

  • Benign Scapuloperoneal Muscular Dystrophy with Early Contractures
  • Scapuloperoneal Syndrome, X-Linked

Qualificatif(s) autorisé(s)

Traductions

URI

http://data.loterre.fr/ark:/67375/JVR-JZ766HQB-R

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RDF/XML TURTLE JSON-LD Date de création 07/07/2020, dernière modification le 10/05/2021