Term Name: | autosomal dominant Emery-Dreifuss muscular dystrophy 7 |
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Synonyms: | EDMD7, Emery-Dreifuss muscular dystrophy 7, autosomal dominant |
Definition: | An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1. |
Ontology: | Human Disease [DOID:0070252] ( DOID:0070252 ) |