OBO ID: DOID:0081298 |
Term Name: | oculopharyngodistal myopathy 2 | Search Ontology: | |
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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/ | ||
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Ontology: | Human Disease ( DOID:0081298 ) |
OTHER oculopharyngodistal myopathy 2 PAGES
ZEBRAFISH MODELS
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PHENOTYPE
No data available
CITATIONS: None
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