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

CUI: C0041341   Tuberous Sclerosis 
Autosomal dominant neurocutaneous syndrome classically characterized by MENTAL RETARDATION; EPILEPSY; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules). There is, however, considerable heterogeneity in the neurologic manifestations. It is also associated with cortical tuber and HAMARTOMAS formation throughout the body, especially the heart, kidneys, and eyes. Mutations in two loci TSC1 and TSC2 that encode hamartin and tuberin, respectively, are associated with the disease.

rdfs:seeAlso —
http://dbpedia.org/resource/Brain C0203860 C0006104 C0006111 C0596208 C0596215 C0678908
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/Tourette_syndrome C0040517
http://dbpedia.org/resource/Epilepsy C0014544 C0391957 C1096063
http://dbpedia.org/resource/Dominance_(genetics) C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989
http://dbpedia.org/resource/Syndrome C1332133 C0039082 C0567439
http://dbpedia.org/resource/Polianthes_tuberosa C1035280
http://dbpedia.org/resource/Skin C1844592 C0221912 C0444099 C0814995
http://dbpedia.org/resource/Intellectual_disability C0013625 C0020796 C0025362 C0026106 C0026351 C0036857 C0079822 C0424230 C0497327 C0521111 C0541729 C0557874 C0876918 C0917816 C1306341 C1861865 C1969457 C3161330 C3714756
http://dbpedia.org/resource/Adenoma C0001430 C0149845 C0334294 C0334378
http://dbpedia.org/resource/Lesion C0221198
http://dbpedia.org/resource/Cutaneous_condition C0005758 C0011389 C0013595 C0030848 C0037277 C0042109 C0149922 C0205204 C0332816 C0333307 C1274184 C0015256 C0023653 C0023654 C0028259 C0037268 C0037274 C0037284 C0037286 C0037287 C0037299 C0205405 C0221201 C0221232 C0241075 C0241089 C0241157 C0332534 C0332564 C0332566 C0332573 C0332574 C0332832 C0444084 C1402315 C1706366 C1843468

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Phakomatosis C0041341 C0265316
http://dbpedia.org/resource/Tuberous_sclerosis C0694894 C0041341
http://dbpedia.org/resource/Adenoma_sebaceum C0041341


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.