| Metadata | |
|---|---|
| ID | DOID:11722 |
| Name | myotonic dystrophy type 1 |
| 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. http://en.wikipedia.org/wiki/Myotonic_dystrophy, http://ghr.nlm.nih.gov/condition/myotonic-dystrophy, http://omim.org/entry/160900, http://www.genome.gov/25521207, http://www.ncbi.nlm.nih.gov/books/NBK1165/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:1177122009 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
congenital myotonic dystrophy [EXACT] Dystrophia myotonica [EXACT] myotonic dystrophy of Steinert [EXACT] Steinert disease [EXACT] |
| Parent Relationships |
is_a myotonic disease |