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Disease Ontology Browser
myotonic dystrophy type 1 (DOID:11722)
Alliance: disease page
Synonyms: congenital myotonic dystrophy; Dystrophia myotonica; myotonic dystrophy of Steinert; Steinert disease
Alt IDs: OMIM:160900, ICD10CM:G71.11, ICD9CM:359.21, MESH:D009223, NCI:C84914, UMLS_CUI:C0027126
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.

Disease References using Mouse Models (32)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory