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X-linked Emery-Dreifuss muscular dystrophy 1
Summary
- Synonym
-
- 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.
- Super Class
- Emery-Dreifuss muscular dystrophy X-linked recessive disease
External Links
- Disease Ontology
- DOID:0070246
- Mondo Disease Ontology
- OMIM
