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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease ptosis
Comorbidity C0026850|muscular dystrophy
Sentences 2
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.
PubMedID- 20829732 ptosis and ophthalmoplegia associated with epidermolysis bullosa simplex-muscular dystrophy.

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