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Metadata
ID	DOID:0081297
Name	oculopharyngodistal myopathy 1
Definition	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. https://pubmed.ncbi.nlm.nih.gov/31332380/
Xrefs	MIM:164310
Parent Relationships	is_a autosomal dominant disease is_a oculopharyngodistal myopathy
Subclass Logical Relationships	has material basis in some autosomal dominant inheritance has material basis in some trinucleotide_repeat_expansion