Ex: C0006933 C0007102 C0007203 C3175196    or

CUI: C0220658   Pfeiffer Syndrome 
An autosomal dominant inherited type of acrocephalosyndactyly caused by mutations in the FGFR1 or FGFR2 genes. It is characterized by early closure of the sutures between the skull bones, bulging and wide-set eyes, broad thumbs, big toes, and partial syndactyly in the hands and toes.

rdfs:seeAlso — C0016063 C0878500 C0156384 C0333910 C0333911 C0334044 C0346210 C1514392 C0001193 C0687154 C1510455 C0596392 C1510455 C0001193 C0220659 C0017342 C0017361 C0178491 C0178492 C0441748 C0443147 C0678942 C0683222 C0683223 C1527180 C3899988 C3899989 C1704258 C0019247 C0206530 C0262496 C0277558 C0683231 C0950123 C1704257 C2924406 C1842089 C0948089 C1332133 C0039082 C0567439 C0262950 C0037253 C0816871

skos:closeMatch —

skos:exactMatch — C0220658 C0919509

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.