| Metadata | |
|---|---|
| ID | DOID:0050759 |
| Name | myotonic dystrophy type 2 |
| 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. http://ghr.nlm.nih.gov/condition/myotonic-dystrophy, http://www.ncbi.nlm.nih.gov/books/NBK1466/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:155096007 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Parent Relationships |
is_a myotonic disease |