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

CUI: C0028860   Oculocerebrorenal Syndrome 
A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)

rdfs:seeAlso —
http://dbpedia.org/resource/Sex_linkage C0241764 C0314614 C0678925 C0678928 C0815328 C1537071
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/Muscular_dystrophy C1414083 C0026850 C0333606 C1846044
http://dbpedia.org/resource/Dominance_(genetics) C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989
http://dbpedia.org/resource/Biological_system C0460002 C0682591
http://dbpedia.org/resource/Syndrome C1332133 C0039082 C0567439
http://dbpedia.org/resource/Kidney C0022655 C0022675 C1510487 C1516697 C0022646 C0022658 C0035064 C0227611 C0266292 C0266304 C0553257 C0935623 C1285477

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/OCRL C0028860 C1417931
http://dbpedia.org/resource/Oculocerebrorenal_syndrome C0028860


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.