FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term oculopharyngodistal myopathy ID (Ontology) DOID:0081296 (Human Disease)
Definition A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities.
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  muscle tissue disease
   |__myopathy
       |__oculopharyngodistal myopathy  2 rec.
           |__oculopharyngodistal myopathy 1
           |__oculopharyngodistal myopathy 2 1 rec.
           |__oculopharyngodistal myopathy 3
           |__oculopharyngodistal myopathy 4 1 rec.
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GARD:12592
MIM:PS164310
ORDO:98897