Search Ontology:
Human Disease
oculopharyngodistal myopathy
- Term ID
- DOID:0081296
- Synonyms
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- 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. https://jnnp.bmj.com/content/75/10/1499
- References
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- GARD:12592
- MIM:PS164310
- ORDO:98897
- Ontology
- Human Disease ( DOID:0081296 )
- is a type of
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- has subtype
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Genes Involved
Zebrafish Models