Muscular Dystrophy, Oculopharyngeal

Source:http://linkedlifedata.com/resource/umls/id/C0270952

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
calbc:hasCorrelation
skos:exactMatch
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.
skos:inScheme
skos:narrower
skos-xl:prefLabel
skos-xl:altLabel
umls:relation
http://linkedlifedata.com/resource/umls/relation/R60695662, http://linkedlifedata.com/resource/umls/relation/R60579566, http://linkedlifedata.com/resource/umls/relation/R132891475, http://linkedlifedata.com/resource/umls/relation/R132891476, http://linkedlifedata.com/resource/umls/relation/R60651215, http://linkedlifedata.com/resource/umls/relation/R60680277, http://linkedlifedata.com/resource/umls/relation/R132891477, http://linkedlifedata.com/resource/umls/relation/R60564068, http://linkedlifedata.com/resource/umls/relation/R60680275, http://linkedlifedata.com/resource/umls/relation/R60651275, http://linkedlifedata.com/resource/umls/relation/R60593338, http://linkedlifedata.com/resource/umls/relation/R60593337, http://linkedlifedata.com/resource/umls/relation/R60564069, http://linkedlifedata.com/resource/umls/relation/R60593339, http://linkedlifedata.com/resource/umls/relation/R60564132, http://linkedlifedata.com/resource/umls/relation/R60505969, http://linkedlifedata.com/resource/umls/relation/R60535000, http://linkedlifedata.com/resource/umls/relation/R60680329, http://linkedlifedata.com/resource/umls/relation/R60593390, http://linkedlifedata.com/resource/umls/relation/R60651276, http://linkedlifedata.com/resource/umls/relation/R60564133, http://linkedlifedata.com/resource/umls/relation/R60535002, http://linkedlifedata.com/resource/umls/relation/R60680395, http://linkedlifedata.com/resource/umls/relation/R60593441, http://linkedlifedata.com/resource/umls/relation/R60622246, http://linkedlifedata.com/resource/umls/relation/R60593439, http://linkedlifedata.com/resource/umls/relation/R125091391, http://linkedlifedata.com/resource/umls/relation/R113844689, http://linkedlifedata.com/resource/umls/relation/R60622146, http://linkedlifedata.com/resource/umls/relation/R60505917, http://linkedlifedata.com/resource/umls/relation/R28467555, http://linkedlifedata.com/resource/umls/relation/R28467556, http://linkedlifedata.com/resource/umls/relation/R28467557, http://linkedlifedata.com/resource/umls/relation/R28543592, http://linkedlifedata.com/resource/umls/relation/R28543593, http://linkedlifedata.com/resource/umls/relation/R28543594, http://linkedlifedata.com/resource/umls/relation/R28543595, http://linkedlifedata.com/resource/umls/relation/R120654573, http://linkedlifedata.com/resource/umls/relation/R120654574, http://linkedlifedata.com/resource/umls/relation/R120654575, http://linkedlifedata.com/resource/umls/relation/R120654576, http://linkedlifedata.com/resource/umls/relation/R120654578, http://linkedlifedata.com/resource/umls/relation/R120654580, http://linkedlifedata.com/resource/umls/relation/R120654581, http://linkedlifedata.com/resource/umls/relation/R120654582, http://linkedlifedata.com/resource/umls/relation/R120654583, http://linkedlifedata.com/resource/umls/relation/R120654584, http://linkedlifedata.com/resource/umls/relation/R120654594, http://linkedlifedata.com/resource/umls/relation/R120654585, http://linkedlifedata.com/resource/umls/relation/R120654586, http://linkedlifedata.com/resource/umls/relation/R120654587, http://linkedlifedata.com/resource/umls/relation/R120654588, http://linkedlifedata.com/resource/umls/relation/R120654590, http://linkedlifedata.com/resource/umls/relation/R120654591, http://linkedlifedata.com/resource/umls/relation/R120654592, http://linkedlifedata.com/resource/umls/relation/R120654593, http://linkedlifedata.com/resource/umls/relation/R120654597, http://linkedlifedata.com/resource/umls/relation/R120654598, http://linkedlifedata.com/resource/umls/relation/R120654600, http://linkedlifedata.com/resource/umls/relation/R120654601, http://linkedlifedata.com/resource/umls/relation/R120654602, http://linkedlifedata.com/resource/umls/relation/R120654603, http://linkedlifedata.com/resource/umls/relation/R120654604, http://linkedlifedata.com/resource/umls/relation/R120654605, http://linkedlifedata.com/resource/umls/relation/R120654606, http://linkedlifedata.com/resource/umls/relation/R120654607, http://linkedlifedata.com/resource/umls/relation/R120654608, http://linkedlifedata.com/resource/umls/relation/R120654609, http://linkedlifedata.com/resource/umls/relation/R120654596, http://linkedlifedata.com/resource/umls/relation/R120654577, http://linkedlifedata.com/resource/umls/relation/R120654589, http://linkedlifedata.com/resource/umls/relation/R120654599, http://linkedlifedata.com/resource/umls/relation/R120654579, http://linkedlifedata.com/resource/umls/relation/R120654595, http://linkedlifedata.com/resource/umls/relation/R71204223
More...