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

CUI: C0205710   Alpers Syndrome (disorder) 
A rare genetic syndrome with an autosomal recessive pattern of inheritance. It is caused by a mutation in the gene for the mitochondrial DNA polymerase POLG. Clinical signs are usually not present at birth but develop within the first two years of life and include hypoglycemia from underlying liver dysfunction, failure to thrive, spasticity, myoclonus and seizures. The clinical course follows a progression of neurologic disability and hepatic failure. The prognosis is poor with survival outside the first decade unlikely.

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/Infant C0021270 C0021289 C0021290 C0205806 C0231330 C2939166 C2939425
http://dbpedia.org/resource/Dominance_(genetics) C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989
http://dbpedia.org/resource/Neurodegeneration C0007682 C0027746 C0154671 C0524851 C0751870 C1522560
http://dbpedia.org/resource/Sleep_disorder C0037317 C0700201 C0752287 C0851578
http://dbpedia.org/resource/Syndrome C1332133 C0039082 C0567439
http://dbpedia.org/resource/Liver C0023884 C0023895 C0205054 C0227496 C0227538 C0227539 C0227540 C0227541 C0227542 C0447541 C0458895 C0458922 C0458927 C0458928 C0736268 C1185594 C1373178 C1517162
http://dbpedia.org/resource/Grey_matter C2331300 C0018220
http://dbpedia.org/resource/DNA C3272453 C0012854 C0012935 C2246376
http://dbpedia.org/resource/Progressive_disease C0677932 C1335499
http://dbpedia.org/resource/Alveolar_hydatid_disease C0948954
http://dbpedia.org/resource/Folate_deficiency C0016412 C0151482
http://dbpedia.org/resource/Genetic_disorder C1704258 C0019247 C0206530 C0262496 C0277558 C0683231 C0950123 C1704257 C2924406
http://dbpedia.org/resource/Cerebrum C0006104 C0039452 C0228174 C1707523
http://dbpedia.org/resource/Neuron C0027882 C0521390 C0596208 C0598940 C1518248 C1850496
http://dbpedia.org/resource/Cirrhosis C1622502 C0023890 C0023891 C0239946 C0745744
http://dbpedia.org/resource/Mitochondrial_DNA C1825950 C0012929 C0887941 C1563761 C1819716
http://dbpedia.org/resource/Heredity C0019266 C0265388 C0439660 C0678919 C0728826
http://dbpedia.org/resource/Liver_disease C0023895 C1306571
http://dbpedia.org/resource/Rare_disease C0678236 C0920627
http://dbpedia.org/resource/Childhood C0231335
http://dbpedia.org/resource/Gray_(unit) C0556636 C0556645 C1956312
http://dbpedia.org/resource/Atheism C0337687 C0344345
http://dbpedia.org/resource/Osmosis C0029393 C0029391
http://dbpedia.org/resource/Progressivism C0205329 C0814713

skos:closeMatch —
http://dbpedia.org/resource/The_American_Heritage_Dictionary_of_the_English_Language C0085280 C0205710

skos:exactMatch —
http://dbpedia.org/resource/Alpers'_disease C0007795 C0205710
http://dbpedia.org/resource/Provisional_National_Defence_Council C0205710


UMLS Concepts to DBPedia Link Discovery Browser


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.