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

CUI: C0339527   Leber Congenital Amaurosis 
A rare degenerative inherited eye disease that appears at birth or in the first few months of life that results in a loss of vision. Not to be confused with LEBER HEREDITARY OPTIC NEUROPATHY, the disease is thought to be caused by abnormal development of PHOTORECEPTOR CELLS in the RETINA, or by the extremely premature degeneration of retinal cells.

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/Congenital_disorder C0265953 C0302142 C1704257 C0000768 C0000769 C0009677 C0220810 C0242354 C0243070 C0332907 C1275147 C1302790 C1457869 C1704258 C1705254 C1744681
http://dbpedia.org/resource/Human_eye C0015392 C0042789 C0015416 C1550636
http://dbpedia.org/resource/Heredity C0019266 C0265388 C0439660 C0678919 C0728826
http://dbpedia.org/resource/Childbirth C0042232 C0426103 C1293122 C2985268 C0005615 C0011209 C0022864 C0022871 C0022872 C0239561 C0473305 C0474368 C0581135 C1552420 C1955347 C2936491
http://dbpedia.org/resource/Rare_disease C0678236 C0920627
http://dbpedia.org/resource/Neurodegeneration C0007682 C0027746 C0154671 C0524851 C0751870 C1522560
http://dbpedia.org/resource/Leber's_hereditary_optic_neuropathy C0917796
http://dbpedia.org/resource/Retina C0012634 C0035301 C0035327 C0035298 C0035309 C0035323 C0339477
http://dbpedia.org/resource/Amaurosis C0376288
http://dbpedia.org/resource/Retinal C0035331

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Leber's_congenital_amaurosis C0005754 C0339527 C1859844 C2931258


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.