Facioscapulohumeral Muscular Dystrophy 3
Disease ID: disease_node_18877
Connections displayed (default: 10).
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| Dbxref | MIM:619477 |
|---|---|
| Subclassof | DOID_0080578, DOID_11727 |
| Data Source | DOID |
| Synonyms | FSHD3, facioscapulohumeral muscular dystrophy type 3 |
| Doid Label | facioscapulohumeral muscular dystrophy 3 |
| Doid Description | A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 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_18877 |
| Doid Id | DOID_0060917 |
| Label | Facioscapulohumeral Muscular Dystrophy 3 |
- 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)