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

CUI: C0410189   Muscular Dystrophy, Emery-Dreifuss 
A heterogenous group of inherited muscular dystrophy without the involvement of nervous system. The disease is characterized by MUSCULAR ATROPHY; MUSCLE WEAKNESS; CONTRACTURE of the elbows; ACHILLES TENDON; and posterior cervical muscles; with or without cardiac features. There are several INHERITANCE PATTERNS including X-linked (X CHROMOSOME), autosomal dominant, and autosomal recessive gene mutations.

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/Muscular_dystrophy C1414083 C0026850 C0333606 C1846044
http://dbpedia.org/resource/Homogeneity_and_heterogeneity C0019409 C1512426 C1881065 C3829671
http://dbpedia.org/resource/Data_type C0441704 C3272375 C3272377 C0332307 C1546485 C1609081 C3266822
http://dbpedia.org/resource/Social_group C0018266 C0687744
http://dbpedia.org/resource/Muscle C0026832 C0026845 C0026848 C0027664 C0240417 C0442025 C0517349 C1704336 C1995013
http://dbpedia.org/resource/Syndrome C1332133 C0039082 C0567439

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Emery–Dreifuss_muscular_dystrophy C0410189 C0751337


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.