Source:http://linkedlifedata.com/resource/umls/id/C0270952
MSH: An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy.,NCI: An autosomal dominant inherited disorder caused by mutations in the PABPN1 gene. It is characterized by late-onset eyelid ptosis and dysphagia. Patients have a positive family history involving at least two generations.