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

CUI: C1847800   Waardenburg Syndrome Type 1 
A rare autosomal dominant syndrome caused by mutations in the PAX3 gene. It is characterized by hearing loss, dystopia canthorum (widely spaced inner corners of the eyes), and changes in the color of the skin, hair, and eyes.

rdfs:seeAlso —
http://dbpedia.org/resource/Canthus C0197246 C0229245 C0423113 C0930222 C0930223
http://dbpedia.org/resource/Dominance_(genetics) C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989
http://dbpedia.org/resource/Rare_disease C0678236 C0920627
http://dbpedia.org/resource/Diabetes_mellitus_type_1 C0011854 C0342302 C0441729
http://dbpedia.org/resource/Syndrome C1332133 C0039082 C0567439

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Waardenburg_syndrome C0079661 C1420317 C1421521 C1837203 C1838447 C1847722 C1847800 C1848519 C1860339 C2700265 C2750452 C2750457 C3266898


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.