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

CUI: C0034960   Refsum Disease 
An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.

rdfs:seeAlso —
http://dbpedia.org/resource/Hemeralopia C0018975
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/Sensorineural_hearing_loss C0011057 C0018784 C0155550 C1148477
http://dbpedia.org/resource/Sensory_neuron C0034837
http://dbpedia.org/resource/Retinitis_pigmentosa C0035334
http://dbpedia.org/resource/Dominance_(genetics) C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989
http://dbpedia.org/resource/Glycogen_storage_disease_type_IV C0017923 C1849722
http://dbpedia.org/resource/Classical_conditioning C0009647 C0009649 C0034936 C0234403 C0234404 C0679068 C0679069 C0679070 C0683264 C1325846
http://dbpedia.org/resource/Ataxia C0520966 C0004134 C0004138 C0234366 C0270721 C0278161 C0751837 C2751891 C4012581
http://dbpedia.org/resource/Intravenous_therapy C0521302 C0021440 C0021441 C0021494 C0348016 C0398266 C0455142 C0574032 C0700892 C1289919 C1319196 C1608324 C1621368 C1881246
http://dbpedia.org/resource/Syndrome C1332133 C0039082 C0567439
http://dbpedia.org/resource/Adult C0001675 C0700597 C1706450
http://dbpedia.org/resource/Peripheral_neuropathy C0259749 C0027813 C0031117 C0032541 C0151295 C0151313 C0235025 C0235026 C0235880 C0392553 C0442874 C0494491 C0740343 C1522415
http://dbpedia.org/resource/Axon C1304649 C0004461 C0027749 C0429590
http://dbpedia.org/resource/Heredity C0019266 C0265388 C0439660 C0678919 C0728826
http://dbpedia.org/resource/Hereditary_motor_and_sensory_neuropathy C0027888
http://dbpedia.org/resource/Motor_neuron C0003154 C0026609 C0228809 C0501384 C1513492
http://dbpedia.org/resource/Ichthyosis C0020757 C0020758
http://dbpedia.org/resource/Polyneuropathy C0152025 C0271681 C0271682 C0271683 C0596992 C3278953
http://dbpedia.org/resource/Childhood C0231335
http://dbpedia.org/resource/Inborn_error_of_metabolism C0002514 C0025517 C0025521 C0149676 C0267971 C0520572 C0746554
http://dbpedia.org/resource/Hypertrophy C0007194 C0020564

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Refsum_disease C0034960 C1418479 C1418543 C1720802


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.