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PedAM

Pediatric Disease Annotations & Medicines




Disease hirschsprung disease
Phenotype 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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