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

CUI: C0017926   Glycogen Storage Disease Type VII 
An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.

rdfs:seeAlso —
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/Dominance_(genetics) C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989
http://dbpedia.org/resource/Inborn_error_of_metabolism C0002514 C0025517 C0025521 C0149676 C0267971 C0520572 C0746554
http://dbpedia.org/resource/Myopathy C0026848
http://dbpedia.org/resource/Avitaminosis C0042842 C0376286 C1510471
http://dbpedia.org/resource/Glycogen_storage_disease_type_II C0017921 C0268271 C0751173 C0878677
http://dbpedia.org/resource/Muscle C0026832 C0026845 C0026848 C0027664 C0240417 C0442025 C0517349 C1704336 C1995013
http://dbpedia.org/resource/Ileum C0020875 C0020885 C0227327 C0745216
http://dbpedia.org/resource/Gene_expression C0040649 C0017262 C0597360 C0920532 C1514559 C1517486 C1880945
http://dbpedia.org/resource/Glycogen C0017911
http://dbpedia.org/resource/Glycogen_storage_disease C0017919 C0017927

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Phosphofructokinase_deficiency C0017926


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.