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Summary Literature (0)
DOID:11722 - myotonic dystrophy type 1

Disease Ontology Definition:A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region.

Synonyms: congenital myotonic dystrophy, Dystrophia myotonica, myotonic dystrophy of Steinert, Steinert disease

Xenbase Genes : dmpk

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008056 - myotonic dystrophy type 1

MIM:
MIM:160900 - MYOTONIC DYSTROPHY 1; DM1

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): myotonic disease (is_a)