FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Becker disease ID (Ontology) DOID:0081335 (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 homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34.
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 Genes
 Becker disease       1
 for disease ribbon | Becker disease       1
 model of | Becker disease       1
Spanning Tree (Parents/Children)
Only view relationship: 
autosomal genetic disease
 |__autosomal recessive disease__
physical disorder                |
 |__myotonia congenita___________|
muscle tissue disease            |
 |__myotonia congenita___________|
                                 Becker disease  1 rec.
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Is a autosomal recessive disease
myotonia congenita
Part of
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MIM:255300
MIM:255700