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

CUI: C0008445   Chondrodysplasia Punctata 
A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.

rdfs:seeAlso —
http://dbpedia.org/resource/Achondroplasia C0001080 C2930793
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/Epiphysis C0014570 C0231577
http://dbpedia.org/resource/Homogeneity_and_heterogeneity C0019409 C1512426 C1881065 C3829671
http://dbpedia.org/resource/Osteochondrodysplasia C0026707 C0029422 C0343284 C0410528 C0410533 C0410719
http://dbpedia.org/resource/Functional_group C0596316 C0598132 C0920436

skos:closeMatch —
http://dbpedia.org/resource/Conradi%E2%80%93H%C3%BCnermann_syndrome C0008445 C0282102

skos:exactMatch —
http://dbpedia.org/resource/Chondrodysplasia_punctata C0282529 C0008445 C1442935
http://dbpedia.org/resource/Stippled_epiphyses C0008445


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.