WormBase Tree Display for DO_term: DOID:0050759
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| DOID:0050759 | Name | myotonic dystrophy type 2 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Parent | Is_a | DOID:450 | |||
| DB_info | Database | OMIM | disease | 602668 | |
| Attribute_of | Gene_by_orthology | WBGene00019537 |
