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oculopharyngeal muscular dystrophy

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset progressive myopathy characterized by progressive eyelid ptosis, dysphagia, dysarthria and proximal limb weakness.
Uniprot Description A form of late-onset slowly progressive myopathy characterized by eyelid ptosis, dysphagia and, sometimes by other cranial and limb-muscle involvement.
Mondo Term and Equivalent IDs
MONDO:0008116:  oculopharyngeal muscular dystrophy
GARD:0007245: 
MESH:D039141: 
NCIT:C84942: 
Orphanet:270: 
SCTID:77097004: 
UMLS:C0270952: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)