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

CUI: C0175695   Sotos' syndrome 
A rare genetic syndrome caused by mutations in the NSD1 gene. It is characterized by excessive physical growth early in life, mild mental retardation, and delayed cognitive and social development. Children affected by this syndrome are tall with larger than normal heads.

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/Genetic_disorder C1704258 C0019247 C0206530 C0262496 C0277558 C0683231 C0950123 C1704257 C2924406
http://dbpedia.org/resource/Rare_disease C0678236 C0920627
http://dbpedia.org/resource/Gigantism C0017547
http://dbpedia.org/resource/Biomolecular_structure C0004793 C0027627 C0162807
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/Syndrome C1332133 C0039082 C0567439
http://dbpedia.org/resource/Chromosome C0008633 C0008641 C0008643 C1158486

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Sotos_syndrome C0175695


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.