Term Name: | autosomal dominant Emery-Dreifuss muscular dystrophy 5 |
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Synonyms: | EDMD5, Emery-Dreifuss muscular dystrophy 5, autosomal dominant |
Definition: | An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2. |
Ontology: | Human Disease [DOID:0070250] ( DOID:0070250 ) |