Term Name: autosomal dominant Emery-Dreifuss muscular dystrophy 5
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 )

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