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Metadata
ID	DOID:0081299
Name	oculopharyngodistal myopathy 3
Definition	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. https://pubmed.ncbi.nlm.nih.gov/33693509/
Xrefs	MIM:619473
Parent Relationships	is_a autosomal dominant disease is_a oculopharyngodistal myopathy
Subclass Logical Relationships	has material basis in some trinucleotide_repeat_expansion has material basis in some autosomal dominant inheritance