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Summary Literature (7)
DOID:2106 - myotonia congenita

Disease Ontology Definition:A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres.

Synonyms: Batten Turner congenital myopathy, Congenital myotonia, autosomal dominant form, Congenital myotonia, autosomal dominant form (disorder), Thomsen and Becker disease, Thomsen disease, Thomsen's disease,

Xenbase Genes : clcn1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009710 - Thomsen and Becker disease


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): muscle tissue disease (is_a), physical disorder (is_a)