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DO Term : oculopharyngodistal myopathy [DOID:0081296] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:PS164310,
  • PS164310,
  • GARD:12592,
  • ORDO:98897
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