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

CUI: C0265252   Coffin-Lowry syndrome 
An inherited syndrome caused by mutations in the RPS6KA3 gene. It is characterized by mental retardation, developmental delay, microcephaly, short stature and kyphoscoliosis.

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/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/Congenital_disorder C0265953 C0302142 C1704257 C0000768 C0000769 C0009677 C0220810 C0242354 C0243070 C0332907 C1275147 C1302790 C1457869 C1704258 C1705254 C1744681
http://dbpedia.org/resource/Genetic_disorder C1704258 C0019247 C0206530 C0262496 C0277558 C0683231 C0950123 C1704257 C2924406
http://dbpedia.org/resource/Mental_disorder C0006111 C0012634 C0229992 C0277785 C1457887 C0004936 C0025360 C0033975 C0233401 C0233514 C0376338 C0848067 C1306597
http://dbpedia.org/resource/Syndrome C1332133 C0039082 C0567439
http://dbpedia.org/resource/Psychomotor_retardation C0424230 C0679465

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Coffin–Lowry_syndrome C0265252


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.