WormBase Tree Display for DO_term: DOID:11722
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| DOID:11722 | Name | myotonic dystrophy type 1 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | Dystrophia myotonica | |||
| Steinert disease | |||||
| congenital myotonic dystrophy | |||||
| myotonic dystrophy of Steinert | |||||
| Parent | Is_a | DOID:450 | |||
| DB_info | Database | OMIM | disease | 160900 | |
| Disease_model_annotation | WBDOannot00000299 | ||||
| WBDOannot00001279 | |||||
| WBDOannot00001365 | |||||
| WBDOannot00001366 | |||||
| Attribute_of | Gene_by_biology | WBGene00006775 | |||
| Gene_by_orthology | WBGene00001132 | ||||
| WBGene00001484 | |||||
| WBGene00011279 | |||||
| Disease_model_variation | WBVar00054452 | ||||
| Disease_model_strain | WBStrain00043193 | ||||
| WBStrain00052393 | |||||
| Molecule_modifier | WBMol:00004867 |
