Autosomal Domit Emery-Dreifuss Muscular Dystrophy 2
Disease ID: disease_node_18883
Connections displayed (default: 10).
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| Dbxref | ICD10CM:G71.0, MIM:181350, ORDO:264 |
|---|---|
| Subclassof | DOID_0050736, DOID_11726 |
| Data Source | DOID |
| Synonyms | EDMD2, EMD2, Emery-Dreifuss muscular dystrophy 2, autosomal dominant, Emery-Dreifuss muscular dystrophy, autosomal dominant, Hauptmann-Thannhauser muscular dystrophy, autosomal dominant limb-girdle muscular dystrophy type 1B, muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant, scapuloilioperoneal atrophy with cardiopathy |
| Doid Label | autosomal domit Emery-Dreifuss muscular dystrophy 2 |
| Doid Description | An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal domit mutation of the LMNA gene on chromosome 1q22. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_18883 |
| Doid Id | DOID_0070247 |
| Label | Autosomal Domit Emery-Dreifuss Muscular Dystrophy 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Muscular Dystrophy, Emery-Dreifuss(ID:disease_node_10573) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)