Term Name: autosomal dominant Emery-Dreifuss muscular dystrophy 7
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 )

Relationships
is a type of: autosomal dominant disease Emery-Dreifuss muscular dystrophy