Thomsen disease

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: clcn1

MIM:

MIM:160800 - MYOTONIA CONGENITA, AUTOSOMAL DOMINANT

MIM:160800 - MYOTONIA CONGENITA, AUTOSOMAL DOMINANT

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)