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

CUI: C1861922   CAMPOMELIC DYSPLASIA 
A congenital disorder of CHONDROGENESIS and OSTEOGENESIS characterized by hypoplasia of endochondral bones. In most cases there is a curvature of the long bones especially the TIBIA with dimpling of the skin over the bowed areas, malformation of the pelvis and spine, 11 pairs of ribs, hypoplastic scapulae, club feet, micrognathia, CLEFT PALATE, tracheobronchomalacia, and in some patients male-to-female sex reversal (SEX REVERSAL, GONADAL). Most patients die in the neonatal period of respiratory distress. Campomelic dysplasia is associated with haploinsufficiency of the SOX9 TRANSCRIPTION FACTOR gene.

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/Dysplasia C0016063 C0878500 C0156384 C0333910 C0333911 C0334044 C0346210 C1514392
http://dbpedia.org/resource/Dwarfism C0013336 C0013338 C0015934 C0265281 C0432283 C1855165
http://dbpedia.org/resource/Congenital_disorder C0265953 C0302142 C1704257 C0000768 C0000769 C0009677 C0220810 C0242354 C0243070 C0332907 C1275147 C1302790 C1457869 C1704258 C1705254 C1744681
http://dbpedia.org/resource/Chondrogenesis C0598067
http://dbpedia.org/resource/Syndrome C1332133 C0039082 C0567439
http://dbpedia.org/resource/Ossification C0029433 C0231556 C0242416 C0971859 C2350989

skos:closeMatch —

skos:exactMatch —
http://dbpedia.org/resource/Campomelic_dysplasia C1861922


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