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Disease Ontology Browser
myotonic dystrophy type 2 (DOID:0050759)
Alliance: disease page
Alt IDs: OMIM:602668, ICD10CM:G71.1, ICD9CM:359.2, MESH:D020967, NCI:C84913, ORDO:606, UMLS_CUI:C0553604
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_material_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 Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory