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

CUI: C0079541   Holoprosencephaly 
Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe INTELLECTUAL DISABILITY; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of INTELLECTUAL DISABILITY. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild INTELLECTUAL DISABILITY to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.

rdfs:seeAlso —
http://dbpedia.org/resource/Brain C0203860 C0006104 C0006111 C0596208 C0596215 C0678908
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/Heredity C0019266 C0265388 C0439660 C0678919 C0728826
http://dbpedia.org/resource/Anatomical_terms_of_location C0205095 C0205123 C0751438 C1282910 C2329245 C0205093 C0205097 C0205098 C0205107 C0205108 C0205111 C0205112 C0205127 C0230091 C0230463 C0333053 C0333055 C0441988 C0441989 C0442036 C0443349 C0448155 C0458098 C0542339 C0751437 C1180142 C1184147 C1704448 C2326281 C2983598 C2986545 C3266730
http://dbpedia.org/resource/Sequence C0162326 C1519249 C1705294
http://dbpedia.org/resource/Ventricular_system C0230041 C0007798 C0007799 C1818135 C2333438
http://dbpedia.org/resource/Ventricle_(heart) C0018827 C0080309 C0080310 C0225883 C0225897 C1335957 C1980012 C2599768 C3275104
http://dbpedia.org/resource/Single_(music) C0205171

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Holoprosencephaly C0079541


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.