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

CUI: C0023264   Leigh Disease 
A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).

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/Acute_(medicine) C0155626 C0001314 C0205178 C0205365 C0439588 C3686989 C3844762 C4061114
http://dbpedia.org/resource/Chronic_fatigue_syndrome C0014070 C0015672 C0015674 C0518656 C0857156
http://dbpedia.org/resource/Encephalopathy C0085584 C3554130
http://dbpedia.org/resource/Infant C0021270 C0021289 C0021290 C0205806 C0231330 C2939166 C2939425
http://dbpedia.org/resource/Necrosis C0027540 C0439664 C0553548 C1883344
http://dbpedia.org/resource/Syllable C1546485 C1555582 C3853528 C0332162 C0871464
http://dbpedia.org/resource/Inborn_error_of_metabolism C0002514 C0025517 C0025521 C0149676 C0267971 C0520572 C0746554
http://dbpedia.org/resource/Functional_group C0596316 C0598132 C0920436
http://dbpedia.org/resource/Syndrome C1332133 C0039082 C0567439
http://dbpedia.org/resource/Lichen_sclerosus C0022783 C0023652
http://dbpedia.org/resource/Psychomotor_retardation C0424230 C0679465

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Supernova C0023264


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.