Ex: C0006933 C0007102 C0007203 C3175196    or

CUI: C0265354   CHARGE Syndrome 
A rare autosomal dominant syndrome usually caused by mutations in the CHD7 gene. The term CHARGE is an acronym for the following unusual congenital abnormalities that are associated with this syndrome: coloboma of the eye, heart defects, choanal atresia, growth and developmental retardation, genital, and ear abnormalities.

rdfs:seeAlso — C0000768 C0006111 C0015127 C0205269 C0231218 C1314792 C1331418 C1457887 C0012634 C0026538 C0178685 C0221423 C0231172 C0679215 C0683323 C0683324 C0683337 C0699749 C1514815 C2359469 C3540542 C0013936 C0015928 C0033052 C0178795 C0456336 C0678726 C0678804 C0743925 C2828394 C2985271 C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989 C0681029 C0449249 C0681030 C0920595 C0004083 C0033282 C0680403 C0018798 C0018816 C0152021 C1332133 C0039082 C0567439 C0439849 C0037393 C0424230 C0679465 C1261210 C0017420 C0017421 C0017422 C0227747 C0227922 C0227923 C0559522 C0684110 C0700039 C0738643 C0836200 C1848178 C0013443 C0013447 C0008297 C0013625 C0020796 C0025362 C0026106 C0026351 C0036857 C0079822 C0424230 C0497327 C0521111 C0541729 C0557874 C0876918 C0917816 C1306341 C1861865 C1969457 C3161330 C3714756 C0265953 C0302142 C1704257 C0000768 C0000769 C0009677 C0220810 C0242354 C0243070 C0332907 C1275147 C1302790 C1457869 C1704258 C1705254 C1744681 C0011756 C0596421 C0678723 C0871079 C1511806 C0018270 C0678723 C3826170 C0009363 C0266551 C1852767 C0678236 C0920627 C0007226 C0011813 C0018792 C0446987 C0524422 C0018787 C0225808 C0225809 C0225810 C0225811 C0225814 C0225815 C0225816 C0729936 C0596988 C0796357 C1512796 C0026882 C0034529 C0042333 C0544886 C0596611 C0678939 C1513776 C1515568 C1516517 C1564139 C1705285 C2985436 C2985439

skos:closeMatch — C0018747 C0265354 C0683314 C0041709 C0041711

skos:exactMatch — C0265354

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.