Summary Literature (8)

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, Congenital myotonia, autosomal dominant form, Batten Turner congenital myopathy, Thomsen and Becker disease

Xenbase Genes : clcn1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009710 - Thomsen and Becker disease

MIM:

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