FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Thomsen disease ID (Ontology) DOID:0081336 (Human Disease)
Definition A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34.
Also Known As "Congenital myotonia, autosomal dominant form" ; "Thomsen's disease"
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 Genes
 Thomsen disease       1
 for disease ribbon | Thomsen disease       1
 model of | Thomsen disease       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
physical disorder               |
 |__myotonia congenita__________|
muscle tissue disease           |
 |__myotonia congenita__________|
                                Thomsen disease  1 rec.
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Is a autosomal dominant disease
myotonia congenita
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Synonyms
  • "Congenital myotonia, autosomal dominant form" EXACT
    "Thomsen's disease" EXACT
Secondary IDs
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MIM:160800