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

CUI: C0019202   Hepatolenticular Degeneration 
A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.

rdfs:seeAlso —
http://dbpedia.org/resource/Brain C0203860 C0006104 C0006111 C0596208 C0596215 C0678908
http://dbpedia.org/resource/Chorea C0008489 C0270739 C0541831
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/Hepatitis C0019196 C0276434 C0019158 C0019159 C0019161 C0019187 C0019189 C0149519 C0241910 C0267797 C0276623 C0282571 C0302809 C0520463 C0744827
http://dbpedia.org/resource/Cornea C0010034 C0162281
http://dbpedia.org/resource/Gene C0017262 C0017366 C1294197 C1708726 C0017337 C1517495
http://dbpedia.org/resource/Dominance_(genetics) C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989
http://dbpedia.org/resource/Hereditary_spastic_paraplegia C0037772 C0037773 C0175693 C0393559 C0751604 C0796019 C1427118 C1849128 C1849156 C2931276 C2931355 C2931356 C2931357 C3711371
http://dbpedia.org/resource/Neurodegeneration C0007682 C0027746 C0154671 C0524851 C0751870 C1522560
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/Neurology C0027765 C0027854 C0027855 C0205494 C0237426
http://dbpedia.org/resource/Congenital_disorder C0265953 C0302142 C1704257 C0000768 C0000769 C0009677 C0220810 C0242354 C0243070 C0332907 C1275147 C1302790 C1457869 C1704258 C1705254 C1744681
http://dbpedia.org/resource/Copper C0009968 C0373587 C1177210 C2347872
http://dbpedia.org/resource/Heredity C0019266 C0265388 C0439660 C0678919 C0728826
http://dbpedia.org/resource/Progressive_disease C0677932 C1335499
http://dbpedia.org/resource/Liver_disease C0023895 C1306571
http://dbpedia.org/resource/Rare_disease C0678236 C0920627
http://dbpedia.org/resource/Organ_(anatomy) C0460002 C0037990 C0042779 C0178784 C0230130 C0230273 C0442045 C0728992
http://dbpedia.org/resource/Inborn_error_of_metabolism C0002514 C0025517 C0025521 C0149676 C0267971 C0520572 C0746554
http://dbpedia.org/resource/Ileum C0020875 C0020885 C0227327 C0745216
http://dbpedia.org/resource/Progressivism C0205329 C0814713
http://dbpedia.org/resource/Cerebral_edema C0006114 C0472387 C0472388 C2825502

skos:closeMatch —
http://dbpedia.org/resource/Wilson_disease_protein C0019202 C0296649 C1412689

skos:exactMatch —
http://dbpedia.org/resource/Wilson's_disease C0019202
http://dbpedia.org/resource/WorldNetDaily C0019202


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.