Ex: C0006933 C0007102 C0007203 C3175196    or

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 — C0000768 C0006111 C0015127 C0205269 C0231218 C1314792 C1331418 C1457887 C0012634 C0026538 C0178685 C0221423 C0231172 C0679215 C0683323 C0683324 C0683337 C0699749 C1514815 C2359469 C3540542 C0014548 C0234533 C0270850 C0596142 C0236720 C0369632 C0024334 C2697851 C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989 C0242578 C1704753 C0079149 C1698986 C1706377 C0015278 C0002272 C0017911 C0017919 C0017927 C0002520 C0949771 C0001128 C0001129 C0596078 C0024369 C0391845 C0521450 C0311432 C4055506 C0017764 C0011860 C0441730 C0854110 C1320657 C1832387 C2700186 C2984301 C3273872 C3274435 C0033706 C0040018 C0060008 C0200396 C0272317 C0723739 C1414504 C2256554 C2256560 C2256561 C3203356 C0002514 C0025517 C0025521 C0149676 C0267971 C0520572 C0746554 C0042842 C0376286 C1510471 C0017696 C0219900 C0011156 C0158850 C0162429 C0751753 C1257753 C3714509

skos:closeMatch — C0017921 C0015278 C1414899 C1721422

skos:exactMatch — C0017921 C0268271 C0751173 C0878677

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