|OBO ID: DOID:0050759|
|Term Name:||myotonic dystrophy type 2||Search Ontology:|
|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. (2)|
|Ontology:||Human Disease (DOID:0050759)|
|is a type of:||
OTHER myotonic dystrophy type 2 PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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