Ex: C0006933 C0007102 C0007203 C3175196    or

CUI: C0266526   Norrie disease 
A rare, X-linked recessive inherited syndrome caused by mutations in the NPD gene. It is characterized by developmental retinal abnormalities that result in blindness in male infants at birth or soon after birth. Additional manifestations include progressive hearing loss and developmental motor skills delays.

rdfs:seeAlso — C0000768 C0006111 C0015127 C0205269 C0231218 C1314792 C1331418 C1457887 C0012634 C0026538 C0178685 C0221423 C0231172 C0679215 C0683323 C0683324 C0683337 C0699749 C1514815 C2359469 C3540542 C0265953 C0302142 C1704257 C0000768 C0000769 C0009677 C0220810 C0242354 C0243070 C0332907 C1275147 C1302790 C1457869 C1704258 C1705254 C1744681 C0019266 C0265388 C0439660 C0678919 C0728826 C0681053 C0677932 C1335499 C0007682 C0027746 C0154671 C0524851 C0751870 C1522560 C0678236 C0920627 C0431399 C0549491 C1332133 C0039082 C0567439 C0033800 C1417616 C1504724 C0010543 C0022073 C0022081 C0042164 C0042165 C0042168 C0271105 C0701807 C0015950 C0015965 C1305737

skos:closeMatch —

skos:exactMatch — C0265221 C0266526

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.