Facioscapulohumeral Muscular Dystrophy 4
Disease ID: disease_node_18876
Connections displayed (default: 10).
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| Dbxref | MIM:619478 |
|---|---|
| Subclassof | DOID_0080578, DOID_11727 |
| Data Source | DOID |
| Synonyms | FSHD4, facioscapulohumeral muscular dystrophy type 4 |
| Doid Label | facioscapulohumeral muscular dystrophy 4 |
| Doid Description | A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. |
| Has Material Basis In | GENO_0000930 |
| Disease Node Id | disease_node_18876 |
| Doid Id | DOID_0060918 |
| Label | Facioscapulohumeral Muscular Dystrophy 4 |
- Outgoing r'ship
SUBCLASS_OFto/from Muscular Dystrophy, Facioscapulohumeral(ID:disease_node_10577) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Digenic Disease(ID:disease_node_13627) (Disease)