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

CUI: C0265259   Popliteal pterygium syndrome 
A rare, autosomal dominant inherited syndrome caused by mutations in the IRF6 gene. It is characterized by the presence of cleft palate, cleft lip, pits in the lower lip, web behind the knee (popliteal pterygium), syndactyly, cryptorchidism, scrotal malformation, and hypoplasia of the labia majora.

rdfs:seeAlso —
http://dbpedia.org/resource/Palate C0700374
http://dbpedia.org/resource/Computer C0013850 C0449913 C0582802 C0009612 C0009622 C0086044 C0681427 C0870325 C1883674
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/Sex_organ C1261210 C0017420 C0017421 C0017422 C0227747 C0227922 C0227923 C0559522 C0684110 C0700039 C0738643 C0836200 C1848178
http://dbpedia.org/resource/Lip C0023759 C0023760 C0149637 C0226937
http://dbpedia.org/resource/Lower_lip C0458583 C1839739
http://dbpedia.org/resource/Mucus C0026724 C0026727 C0225392 C1260880 C1513712
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/Cyst C0010626 C0010709 C0016427 C0205207 C1290651
http://dbpedia.org/resource/Cleft_lip_and_palate C0008924 C0008925 C0158646 C0205242 C1833369
http://dbpedia.org/resource/Rare_disease C0678236 C0920627
http://dbpedia.org/resource/Pterygium C0033999 C0406438 C1844643

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Popliteal_pterygium_syndrome C0265259


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.