X-Linked Emery-Dreifuss Muscular Dystrophy 1
Disease ID: disease_node_18884
Connections displayed (default: 10).
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| Dbxref | MIM:310300 |
|---|---|
| Subclassof | DOID_0080012, DOID_11726 |
| Data Source | DOID |
| 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 |
| Doid Label | X-linked Emery-Dreifuss muscular dystrophy 1 |
| Doid Description | An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_18884 |
| Doid Id | DOID_0070246 |
| Label | X-Linked Emery-Dreifuss Muscular Dystrophy 1 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Muscular Dystrophy, Emery-Dreifuss(ID:disease_node_10573) (Disease)