Oculopharyngodistal Myopathy 1
Disease ID: disease_node_18970
Connections displayed (default: 10).
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| Dbxref | MIM:164310 |
|---|---|
| Subclassof | DOID_0050736, DOID_0081296 |
| Data Source | DOID |
| Doid Label | oculopharyngodistal myopathy 1 |
| Doid Description | An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. |
| Has Material Basis In | GENO_0000147, SO_0002165 |
| Disease Node Id | disease_node_18970 |
| Doid Id | DOID_0081297 |
| Label | Oculopharyngodistal Myopathy 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Oculopharyngodistal Myopathy(ID:disease_node_18966) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)