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- Q17124192 subject Q6853484.
- Q17124192 subject Q7031586.
- Q17124192 subject Q8343903.
- Q17124192 abstract "Smith Martin Dodd syndrome is a very rare genetic disorder first described by Smith et al. in 1994. It is characterized by small eyes, a diaphragmatic hernia, and Tetralogy of Fallot, a congenital heart defect. The only known case is of a 9-year-old boy with several congenital anomalies including a diaphragmatic hernia, microphthalmia, and Tetralogy of Fallot. It was found that the boy had a reciprocal translocation t(1;15)(q41;q21.2). A congenital diaphragmatic hernia is consistent with chromosome 1q41-q42 deletion syndrome, and the report by Smith et al. suggested that genes involved in the translocation may be important for the development of morphological characteristics, especially those of the eye or heart.".
- Q17124192 wikiPageWikiLink Q1126831.
- Q17124192 wikiPageWikiLink Q1557239.
- Q17124192 wikiPageWikiLink Q2119430.
- Q17124192 wikiPageWikiLink Q6853484.
- Q17124192 wikiPageWikiLink Q7031586.
- Q17124192 wikiPageWikiLink Q8343903.
- Q17124192 wikiPageWikiLink Q916504.
- Q17124192 wikiPageWikiLink Q939364.
- Q17124192 type Disease.
- Q17124192 type Thing.
- Q17124192 type Q12136.
- Q17124192 comment "Smith Martin Dodd syndrome is a very rare genetic disorder first described by Smith et al. in 1994. It is characterized by small eyes, a diaphragmatic hernia, and Tetralogy of Fallot, a congenital heart defect. The only known case is of a 9-year-old boy with several congenital anomalies including a diaphragmatic hernia, microphthalmia, and Tetralogy of Fallot. It was found that the boy had a reciprocal translocation t(1;15)(q41;q21.2).".
- Q17124192 label "Smith Martin Dodd syndrome".