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

CUI: C0085280   Alagille Syndrome 
A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).

rdfs:seeAlso —
http://dbpedia.org/resource/Peripheral_nervous_system C0031118 C0031119 C0206417 C0243049 C1519003
http://dbpedia.org/resource/Hypoplasia C0151773 C0243069 C0263523 C0265783 C0543481
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/Stenosis C0003492 C0332886 C0333181 C0521618 C1261287 C1883524 C3887590
http://dbpedia.org/resource/Dysplasia C0016063 C0878500 C0156384 C0333910 C0333911 C0334044 C0346210 C1514392
http://dbpedia.org/resource/Miller_syndrome C0265257 C0812435
http://dbpedia.org/resource/Pulmonic_stenosis C0034089
http://dbpedia.org/resource/Liver C0023884 C0023895 C0205054 C0227496 C0227538 C0227539 C0227540 C0227541 C0227542 C0447541 C0458895 C0458922 C0458927 C0458928 C0736268 C1185594 C1373178 C1517162
http://dbpedia.org/resource/Syndrome C1332133 C0039082 C0567439
http://dbpedia.org/resource/Aplasia C0243065 C0334079
http://dbpedia.org/resource/Lung C0024119 C0024109 C0034071 C0038903 C0225730 C1261076 C1261077
http://dbpedia.org/resource/Progressive_familial_intrahepatic_cholestasis C0268312 C1865643 C3489789
http://dbpedia.org/resource/Cholestasis C0008370 C0008372
http://dbpedia.org/resource/Intrahepatic_bile_ducts C0005401 C0227516

skos:closeMatch —
http://dbpedia.org/resource/The_American_Heritage_Dictionary_of_the_English_Language C0085280 C0205710

skos:exactMatch —
http://dbpedia.org/resource/Alagille_syndrome C0085280 C2697827


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.