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

CUI: C0017921   Glycogen storage disease type II 
An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)

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/Generalised_epilepsy C0014548 C0234533 C0270850
http://dbpedia.org/resource/Autosome C0596142
http://dbpedia.org/resource/Lysergic_acid_diethylamide C0236720 C0369632 C0024334 C2697851
http://dbpedia.org/resource/Dominance_(genetics) C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989
http://dbpedia.org/resource/Computer_data_storage C0242578 C1704753 C0079149 C1698986 C1706377
http://dbpedia.org/resource/Alpha-glucosidase C0015278 C0002272
http://dbpedia.org/resource/Glycogen C0017911
http://dbpedia.org/resource/Glycogen_storage_disease C0017919 C0017927
http://dbpedia.org/resource/Acid C0002520 C0949771 C0001128 C0001129 C0596078
http://dbpedia.org/resource/Lysosome C0024369 C0391845 C0521450
http://dbpedia.org/resource/Bioaccumulation C0311432 C4055506
http://dbpedia.org/resource/Glucosidases C0017764
http://dbpedia.org/resource/Diabetes_mellitus_type_2 C0011860 C0441730 C0854110 C1320657 C1832387 C2700186 C2984301 C3273872
http://dbpedia.org/resource/Thrombin C3274435 C0033706 C0040018 C0060008 C0200396 C0272317 C0723739 C1414504 C2256554 C2256560 C2256561 C3203356
http://dbpedia.org/resource/Inborn_error_of_metabolism C0002514 C0025517 C0025521 C0149676 C0267971 C0520572 C0746554
http://dbpedia.org/resource/Avitaminosis C0042842 C0376286 C1510471
http://dbpedia.org/resource/Glucan C0017696 C0219900
http://dbpedia.org/resource/Malnutrition C0011156 C0158850 C0162429 C0751753 C1257753 C3714509

skos:closeMatch —
http://dbpedia.org/resource/Acid_alpha-glucosidase C0017921 C0015278 C1414899 C1721422

skos:exactMatch —
http://dbpedia.org/resource/Glycogen_storage_disease_type_II C0017921 C0268271 C0751173 C0878677


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.