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Summary Literature (0)
DOID:0081336 - Thomsen disease

Disease Ontology 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.

Synonyms: Congenital myotonia, autosomal dominant form, Thomsen's disease,

Xenbase Genes : clcn1

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), myotonia congenita (is_a)