Ex: C0006933 C0007102 C0007203 C3175196    or

CUI: C0220756   Niemann-Pick Disease, Type C 
An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of gene (NPC1) encoding a protein that mediate intracellular cholesterol transport from lysosomes. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.

rdfs:seeAlso — C0000768 C0006111 C0015127 C0205269 C0231218 C1314792 C1331418 C1457887 C0012634 C0026538 C0178685 C0221423 C0231172 C0679215 C0683323 C0683324 C0683337 C0699749 C1514815 C2359469 C3540542 C0037903 C1753338 C3539580 C0006870 C0035191 C0039663 C0936079 C0017089 C0024808 C0024809 C0678450 C0700258 C1547291 C1547296 C0029089 C0262918 C0751401 C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989 C0597298 C0038868 C0270920 C1408507 C1850077's_disease C0236642 C0150270 C3687832 C0013227 C0013231 C0031336 C0456386 C0470175 C0585326 C1254351 C1533734 C1611640 C2598133 C3469597 C0428472 C0518017 C0008377 C0008395 C0201950 C0587184 C0729627 C0885220 C0002514 C0025517 C0025521 C0149676 C0267971 C0520572 C0746554 C0042842 C0376286 C1510471 C0543482 C0586103 C0014895 C0014898 C0031701 C0682939 C1979885 C0158944 C0242648 C0270173 C0275544 C1112157 C1370227 C0023772 C0023794 C1159705

skos:closeMatch —

skos:exactMatch —–Pick_disease C0028064 C0220756 C0268242

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.