Term Name: X-linked Emery-Dreifuss muscular dystrophy 1
Synonyms: EDMD1, EMD1, Emery-Dreifuss muscular dystrophy 1, X-linked, humeroperoneal neuromuscular disease, muscular dystrophy, tardive, Dreifuss-Emery type, with contractures, scapuloperoneal syndrome, X-linked
Definition: An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28.
Ontology: Human Disease [DOID:0070246]   ( DOID:0070246 )

Relationships
is a type of: Emery-Dreifuss muscular dystrophy X-linked recessive disease