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

CUI: C0023522   Leukodystrophy, Metachromatic 
An autosomal recessive metabolic disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to intralysosomal accumulation of cerebroside sulfate (SULFOGLYCOSPHINGOLIPIDS) in the nervous system and other organs. Pathological features include diffuse demyelination, and metachromatically-staining granules in many cell types such as the GLIAL CELLS. There are several allelic and nonallelic forms with a variety of neurological symptoms.

rdfs:seeAlso —
http://dbpedia.org/resource/Brain C0203860 C0006104 C0006111 C0596208 C0596215 C0678908
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/Cerebroside C0007805 C2323753
http://dbpedia.org/resource/Progressive_multifocal_leukoencephalopathy C0270612 C0023524
http://dbpedia.org/resource/Median_lethal_dose C0023378
http://dbpedia.org/resource/Krabbe_disease C0023521
http://dbpedia.org/resource/Dominance_(genetics) C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989
http://dbpedia.org/resource/Sulfatide C0038727
http://dbpedia.org/resource/Atherosclerosis C0036429 C0702118 C0003850 C0004153 C0007771 C0010054 C0012161 C0264956 C0333477 C0333482 C0425680 C0751007 C1096293 C1563937 C2936350
http://dbpedia.org/resource/Arylsulfatase_A C1412553 C3853627
http://dbpedia.org/resource/Avitaminosis C0042842 C0376286 C1510471
http://dbpedia.org/resource/Inborn_error_of_metabolism C0002514 C0025517 C0025521 C0149676 C0267971 C0520572 C0746554
http://dbpedia.org/resource/Leukodystrophy C0023520
http://dbpedia.org/resource/Malnutrition C0011156 C0158850 C0162429 C0751753 C1257753 C3714509
http://dbpedia.org/resource/Morphology_(biology) C0543482 C0586103
http://dbpedia.org/resource/Lipid_storage_disorder C0023772 C0023794 C1159705

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Metachromatic_leukodystrophy C0023522 C2713319


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.