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Disease Ontology Browser
myotonic dystrophy type 2 (DOID:0050759)
Synonyms: proximal myotonic myopathy
Alt IDs: OMIM:602668, ICD10CM:G71.1, ICD10CM:G71.19, ICD9CM:359.2, MESH:D020967, NCI:C122789, NCI:C122790, NCI:C84913, UMLS_CUI:C0221055, UMLS_CUI:C0553604, UMLS_CUI:C0752355
Definition: A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_physical_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one.


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/14/2017
MGI 6.08
The Jackson Laboratory