Search Ontology:
Human Disease
X-linked Emery-Dreifuss muscular dystrophy 1
- Term ID
- DOID:0070246
- Synonyms
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- 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. https://www.ncbi.nlm.nih.gov/pubmed/8042665
- References
- Ontology
- Human Disease ( DOID:0070246 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models