| Metadata | |
|---|---|
| ID | DOID:0070250 |
| Name | autosomal dominant Emery-Dreifuss muscular dystrophy 5 |
| Definition | An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2. https://www.ncbi.nlm.nih.gov/pubmed/17761684 |
| Xrefs | |
| Synonyms |
EDMD5 [EXACT] Emery-Dreifuss muscular dystrophy 5, autosomal dominant [EXACT] |
| Parent Relationships |