eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | oculopharyngeal muscular dystrophy |
| Comorbidity | C0005745|ptosis |
| Sentences | 1 |
| PubMedID- 21602480 | Introduction: oculopharyngeal muscular dystrophy (opmd) presents with progressive ptosis, dysphagia and limb girdle weakness, and is caused by expansion of a trinucleotide tandem repeat within the gene encoding poly-(a) binding protein 2. |
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