Ex: C0006933 C0007102 C0007203 C3175196    or

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 — C0018975 C0000768 C0006111 C0015127 C0205269 C0231218 C1314792 C1331418 C1457887 C0012634 C0026538 C0178685 C0221423 C0231172 C0679215 C0683323 C0683324 C0683337 C0699749 C1514815 C2359469 C3540542 C0011057 C0018784 C0155550 C1148477 C0034837 C0035334 C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989 C0017923 C1849722 C0009647 C0009649 C0034936 C0234403 C0234404 C0679068 C0679069 C0679070 C0683264 C1325846 C0520966 C0004134 C0004138 C0234366 C0270721 C0278161 C0751837 C2751891 C4012581 C0521302 C0021440 C0021441 C0021494 C0348016 C0398266 C0455142 C0574032 C0700892 C1289919 C1319196 C1608324 C1621368 C1881246 C1332133 C0039082 C0567439 C0001675 C0700597 C1706450 C0259749 C0027813 C0031117 C0032541 C0151295 C0151313 C0235025 C0235026 C0235880 C0392553 C0442874 C0494491 C0740343 C1522415 C1304649 C0004461 C0027749 C0429590 C0019266 C0265388 C0439660 C0678919 C0728826 C0027888 C0003154 C0026609 C0228809 C0501384 C1513492 C0020757 C0020758 C0152025 C0271681 C0271682 C0271683 C0596992 C3278953 C0231335 C0002514 C0025517 C0025521 C0149676 C0267971 C0520572 C0746554 C0007194 C0020564

skos:closeMatch —

skos:exactMatch — 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.