Oculopharyngodistal Myopathy 4
Disease ID: disease_node_18967
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| Dbxref | MIM:619790 |
|---|---|
| Subclassof | DOID_0050736, DOID_0081296 |
| Data Source | DOID |
| Doid Label | oculopharyngodistal myopathy 4 |
| Doid Description | An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the RILPL1 gene on chromosome 12q24. |
| Has Material Basis In | GENO_0000147, SO_0002165 |
| Disease Node Id | disease_node_18967 |
| Doid Id | DOID_0081300 |
| Label | Oculopharyngodistal Myopathy 4 |
- 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)