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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: Congenital myotonia, autosomal dominant form (disorder), Thomsen disease, Thomsen's disease, Batten Turner congenital myopathy, Thomsen and Becker disease
Echinobase Genes
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| MIM:160800 - myotonia congenita, autosomal dominant |
| MIM:255700 - myotonia congenita, autosomal recessive |
Other Model Organisms: Alliance, 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)