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Human Diseases (thesaurus)

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Concept information

disease > genetic disease > hereditary disease > congenital paramyotonia
disease > congenital disease > congenital paramyotonia
... > disease > nervous system diseases > neuromuscular diseases > myotonia > paramyotonia > congenital paramyotonia

Preferred term

congenital paramyotonia  

Definition(s)

  • Paramyotonia congenita (PC), is a rare congenital autosomal dominant neuromuscular disorder characterized by “paradoxical” myotonia. (Wikipedia)

Broader concept(s)

Synonym(s)

  • Eulenburg's disease

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URI

http://data.loterre.fr/ark:/67375/VH8-VBXFRXMW-4

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RDF/XML TURTLE JSON-LD Last modified 5/14/20