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Metadata
ID	DOID:0081300
Name	oculopharyngodistal myopathy 4
Definition	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. https://pubmed.ncbi.nlm.nih.gov/35148830/
Xrefs	MIM:619790
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