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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 :
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)