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

CUI: C0175704   LEOPARD Syndrome 
A genetic syndrome caused by mutations in the PTPN11 and RAF1 genes. It is characterized by the following abnormalities: multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormalities in genitalia, growth retardation, and deafness.

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/Circulatory_system C0005775 C0005839 C0007226 C0489903 C0553534 C0598051 C0678860 C0678861 C0920959 C3156319 C3714653
http://dbpedia.org/resource/Gene C0017262 C0017366 C1294197 C1708726 C0017337 C1517495
http://dbpedia.org/resource/Multiple_sclerosis C0026769 C0751964 C0751967 C1095979
http://dbpedia.org/resource/C-Raf C0139030 C0139905
http://dbpedia.org/resource/PTPN11 C0656342 C1335280 C1566685
http://dbpedia.org/resource/Genetic_disorder C1704258 C0019247 C0206530 C0262496 C0277558 C0683231 C0950123 C1704257 C2924406
http://dbpedia.org/resource/Syndrome C1332133 C0039082 C0567439
http://dbpedia.org/resource/Skin C1844592 C0221912 C0444099 C0814995
http://dbpedia.org/resource/Progressive_disease C0677932 C1335499
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/Noonan_syndrome C0028326 C1527404
http://dbpedia.org/resource/Lentiginosis C0023321
http://dbpedia.org/resource/Lentigo C0023321 C0149722 C0439703

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Noonan_Syndrome_with_Multiple_Lentigines C0175704


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.