| Disease ID | Source | Name | Description |
| 612999 | OMIM | Emery-Dreifuss muscular dystrophy 5, autosomal dominant (EDMD5) | A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. The disease is caused by variants affecting the gene represented in this entry. |