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| umls-concept:C0270952 | skos:exactMatch | pubmed-mesh:Muscular... | lld:mappings |
| umls-concept:C0270952 | skos:definition | 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. | lld:umls |
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| umls-concept:C0270952 | skos-xl:altLabel | umls-label:A1644739 | lld:umls |
| umls-concept:C0270952 | skos-xl:altLabel | umls-label:A1644741 | lld:umls |
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| umls-concept:C0270952 | skos-xl:altLabel | umls-label:A12019447 | lld:umls |
| umls-concept:C0270952 | skos-xl:altLabel | umls-label:A18061206 | lld:umls |
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| umls-concept:C0270952 | umls:relation | http://linkedlifedata.com/r... | lld:umls |
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