eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hirschsprung disease |
| Comorbidity | C0027819|neuroblastoma |
| Sentences | 1 |
| PubMedID- 22922261 | Provide an elegant analysis of one neurocristopathy, the association of neuroblastoma (nb) with hirschsprung disease (hscr) (aganglionosis of the terminal bowel) and congenital central hypoventilation syndrome (cchs) (also known as nb-hscr-cchs), linked to mutations in phox2b. |
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