CUI ⟾ or DBPEDIA ⟾
Ex: C0006933 C0007102 C0007203 C3175196    or    http://dbpedia.org/resource/Nosebleed    http://dbpedia.org/resource/Leg

CUI: C0751783   Lafora Disease 
A form of stimulus sensitive myoclonic epilepsy inherited as an autosomal recessive condition. The most common presenting feature is a single seizure in the second decade of life. This is followed by progressive myoclonus, myoclonic seizures, tonic-clonic seizures, focal occipital seizures, intellectual decline, and severe motor and coordination impairments. Most affected individuals do not live past the age of 25 years. Concentric amyloid (Lafora) bodies are found in neurons, liver, skin, bone, and muscle (From Menkes, Textbook of Childhood Neurology, 5th ed, pp111-110)

rdfs:seeAlso —
http://dbpedia.org/resource/Disease C0000768 C0006111 C0015127 C0205269 C0231218 C1314792 C1331418 C1457887 C0012634 C0026538 C0178685 C0221423 C0231172 C0679215 C0683323 C0683324 C0683337 C0699749 C1514815 C2359469 C3540542
http://dbpedia.org/resource/Epilepsy C0014544 C0391957 C1096063
http://dbpedia.org/resource/Juvenile_myoclonic_epilepsy C0014550 C0014553 C0270853
http://dbpedia.org/resource/Stimulus_(physiology) C0031817 C0150763 C0234402 C2346484
http://dbpedia.org/resource/Dominance_(genetics) C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989
http://dbpedia.org/resource/Genetic_disorder C1704258 C0019247 C0206530 C0262496 C0277558 C0683231 C0950123 C1704257 C2924406
http://dbpedia.org/resource/Myoclonus C0015644 C0231530 C0014550 C0027066
http://dbpedia.org/resource/Progressive_myoclonus_epilepsy C0014550 C0751778 C0751785
http://dbpedia.org/resource/Cadaver C0006629
http://dbpedia.org/resource/Heredity C0019266 C0265388 C0439660 C0678919 C0728826
http://dbpedia.org/resource/Human_body C0178784 C0460002 C1268088 C0002812 C0229962 C0242821 C0460148 C0868920 C1180279 C1180280 C1254472 C1268086 C3494476 C3826168
http://dbpedia.org/resource/Alpha-2A_adrenergic_receptor C0391398 C1332028 C1706446
http://dbpedia.org/resource/Diabetes_mellitus_type_2 C0011860 C0441730 C0854110 C1320657 C1832387 C2700186 C2984301 C3273872
http://dbpedia.org/resource/Keratin_2A C1448831 C1721010 C1721011 C1825741
http://dbpedia.org/resource/Morphology_(biology) C0543482 C0586103
http://dbpedia.org/resource/Sensitivity_and_specificity C0020517 C0036667 C0036668 C0497093 C0681901

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Lafora_disease C0333749 C0751783


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Enter an UMLS concept-unique-identifier (CUI) or DBPEDIA resource uri to show its rdfs:seeAlso, skos:closeMatch, and skos:exactMatch mapped relations to DBpedia. Alternatively, you can click on a CUI from the sample list to the right to compare our mapping to Wikidata.