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

CUI: C0016751   Hereditary fructose intolerance syndrome 
An autosomal recessive fructose metabolism disorder due to deficient fructose-1-phosphate aldolase (EC 2.1.2.13) activity, resulting in accumulation of fructose-1-phosphate. The accumulated fructose-1-phosphate inhibits glycogenolysis and gluconeogenesis, causing severe hypoglycemia following ingestion of fructose. Prolonged fructose ingestion in infants leads ultimately to hepatic failure and death. Patients develop a strong distaste for sweet food, and avoid a chronic course of the disease by remaining on a fructose- and sucrose-free diet.

rdfs:seeAlso —
http://dbpedia.org/resource/Aldolase_A C0001998 C1412344
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/Fructose-bisphosphate_aldolase C0001990 C0016762
http://dbpedia.org/resource/Heredity C0019266 C0265388 C0439660 C0678919 C0728826
http://dbpedia.org/resource/Enzyme C0009235 C0003589 C0014442 C0014445 C0178623 C0282109 C0360722 C0596525 C0596529 C0678612 C3541960
http://dbpedia.org/resource/Bioaccumulation C0311432 C4055506
http://dbpedia.org/resource/Aldolase_A_deficiency C0272066
http://dbpedia.org/resource/Dominance_(genetics) C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989
http://dbpedia.org/resource/Fructose C0016745 C0016752 C1156451
http://dbpedia.org/resource/Syndrome C1332133 C0039082 C0567439
http://dbpedia.org/resource/Lactose_intolerance C0016952 C0231198 C0429238 C0022951 C0022953 C0231200 C0302813 C0860475

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Hereditary_fructose_intolerance C0016751


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.