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

CUI: C0039292   Tangier Disease 
An autosomal recessively inherited disorder caused by mutation of ATP-BINDING CASSETTE TRANSPORTERS involved in cellular cholesterol removal (reverse-cholesterol transport). It is characterized by near absence of ALPHA-LIPOPROTEINS (high-density lipoproteins) in blood. The massive tissue deposition of cholesterol esters results in HEPATOMEGALY; SPLENOMEGALY; RETINITIS PIGMENTOSA; large orange tonsils; and often sensory POLYNEUROPATHY. The disorder was first found among inhabitants of Tangier Island in the Chesapeake Bay, MD.

rdfs:seeAlso —
http://dbpedia.org/resource/Lipoprotein C0065058 C0023820 C0033693 C0443602 C2612456
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/Hyperlipidemia C0441729 C0020445 C0020473 C0020476 C0020479 C0020480 C0020481 C0023817 C0694546 C0700623 C1535978 C1706412 C1720779 C1829809 C1861560
http://dbpedia.org/resource/Autosome C0596142
http://dbpedia.org/resource/Cholesterol C0428472 C0518017 C0008377 C0008395 C0201950 C0587184 C0729627 C0885220
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/Diabetes_mellitus_type_1 C0011854 C0342302 C0441729
http://dbpedia.org/resource/Mutation C0596988 C0796357 C1512796 C0026882 C0034529 C0042333 C0544886 C0596611 C0678939 C1513776 C1515568 C1516517 C1564139 C1705285 C2985436 C2985439
http://dbpedia.org/resource/Malnutrition C0011156 C0158850 C0162429 C0751753 C1257753 C3714509
http://dbpedia.org/resource/Population_density C0032665
http://dbpedia.org/resource/High-density_lipoprotein C0023821 C0023822 C0428472

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Tangier_disease C0039292 C0751544 C1704429
http://dbpedia.org/resource/Podgorica_Airport C0039292 C3889658


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.