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Metadata
ID	DOID:0081298
Name	oculopharyngodistal myopathy 2
Definition	An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13. https://pubmed.ncbi.nlm.nih.gov/32413282/
Xrefs	MIM:618940
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