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

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 —
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/Sphingomyelin_phosphodiesterase C0037903 C1753338 C3539580
http://dbpedia.org/resource/Cannabis_(drug) C0006870 C0035191 C0039663 C0936079 C0017089 C0024808 C0024809 C0678450 C0700258 C1547291 C1547296
http://dbpedia.org/resource/Ophthalmoparesis C0029089 C0262918 C0751401
http://dbpedia.org/resource/Dominance_(genetics) C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989
http://dbpedia.org/resource/Protein_isoform C0597298
http://dbpedia.org/resource/Progressive_supranuclear_palsy C0038868 C0270920 C1408507 C1850077
http://dbpedia.org/resource/Pick's_disease C0236642
http://dbpedia.org/resource/Pharmaceutical_drug C0150270 C3687832 C0013227 C0013231 C0031336 C0456386 C0470175 C0585326 C1254351 C1533734 C1611640 C2598133 C3469597
http://dbpedia.org/resource/Cholesterol C0428472 C0518017 C0008377 C0008395 C0201950 C0587184 C0729627 C0885220
http://dbpedia.org/resource/Inborn_error_of_metabolism C0002514 C0025517 C0025521 C0149676 C0267971 C0520572 C0746554
http://dbpedia.org/resource/Avitaminosis C0042842 C0376286 C1510471
http://dbpedia.org/resource/Morphology_(biology) C0543482 C0586103
http://dbpedia.org/resource/Ester C0014895 C0014898 C0031701 C0682939 C1979885
http://dbpedia.org/resource/Vertically_transmitted_infection C0158944 C0242648 C0270173 C0275544 C1112157 C1370227
http://dbpedia.org/resource/Lipid_storage_disorder C0023772 C0023794 C1159705

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Niemann–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.