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Echinobase
Summary Literature (0)
DOID:2106 - myotonia congenita


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

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

Echinobase Genes :


OMIM:
MIM:160800 - myotonia congenita, autosomal dominant
MIM:255700 - myotonia congenita, autosomal recessive

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)