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

CUI: C0265205   Robinow Syndrome 
A rare autosomal recessive or dominant inherited disorder. The autosomal recessive form is caused by mutations in the ROR2 gene. There is no causative mutation identified for the autosomal dominant form. It is manifested with short limbs, abnormal facial features, underdeveloped genitalia, and wedge-shaped vertebrae.

rdfs:seeAlso —
http://dbpedia.org/resource/Sex_organ C1261210 C0017420 C0017421 C0017422 C0227747 C0227922 C0227923 C0559522 C0684110 C0700039 C0738643 C0836200 C1848178
http://dbpedia.org/resource/Autosome C0596142
http://dbpedia.org/resource/Dwarfism C0013336 C0013338 C0015934 C0265281 C0432283 C1855165
http://dbpedia.org/resource/Dominance_(genetics) C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989
http://dbpedia.org/resource/Rare_disease C0678236 C0920627
http://dbpedia.org/resource/Syndrome C1332133 C0039082 C0567439
http://dbpedia.org/resource/Fetus C0015950 C0015965 C1305737

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Robinow_syndrome C0265205


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.