oculopharyngodistal myopathy 3
Ontology Term:
Status:
Live
Synonym:
Type:
Mapping to OMIM ID:
Comparative Info:
Learn more about this disease from studies in other model systems at the 
WormBase ID:
DOID:0081299
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.
Child:
Associations based on experimental data:
Disease relevant gene:
Automatic gene association:
1 Inferred automatically: Inferred by orthology to human genes with OMIM annotation
