FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term oculopharyngodistal myopathy 2 ID (Ontology) DOID:0081298 (Human Disease)
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.
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 oculopharyngodistal myopathy 2       1
 for disease ribbon | oculopharyngodistal myopathy 2       1
 model of | oculopharyngodistal myopathy 2       1
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autosomal genetic disease
 |__autosomal dominant disease____
myopathy                          |
 |__oculopharyngodistal myopathy__|
                                  oculopharyngodistal myopathy 2  1 rec.
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Is a autosomal dominant disease
oculopharyngodistal myopathy
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MIM:618940