Facioscapulohumeral Muscular Dystrophy 2
Disease ID: disease_node_18874
Connections displayed (default: 10).
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| Dbxref | MIM:158901 |
|---|---|
| Subclassof | DOID_0080578, DOID_11727 |
| Data Source | DOID |
| Synonyms | FSHD2, facioscapulohumeral muscular dystrophy 1B, facioscapulohumeral muscular dystrophy type 2 |
| Doid Label | facioscapulohumeral muscular dystrophy 2 |
| Doid Description | A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression. |
| Has Material Basis In | GENO_0000930 |
| Disease Node Id | disease_node_18874 |
| Doid Id | DOID_0111193 |
| Label | Facioscapulohumeral Muscular Dystrophy 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Digenic Disease(ID:disease_node_13627) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Muscular Dystrophy, Facioscapulohumeral(ID:disease_node_10577) (Disease)