Oculopharyngodistal Myopathy 3
Disease ID: disease_node_18968
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| Dbxref | MIM:619473 |
|---|---|
| Subclassof | DOID_0050736, DOID_0081296 |
| Data Source | DOID |
| Doid Label | oculopharyngodistal myopathy 3 |
| Doid Description | An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21. |
| Has Material Basis In | GENO_0000147, SO_0002165 |
| Disease Node Id | disease_node_18968 |
| Doid Id | DOID_0081299 |
| Label | Oculopharyngodistal Myopathy 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Oculopharyngodistal Myopathy(ID:disease_node_18966) (Disease)