PedAM
Pediatric Disease Annotations & Medicines
| Disease | hirschsprung disease |
| Phenotype | C0043008|waardenburg syndrome |
| Sentences | 2 |
| PubMedID- 24736498 | Previous evidence indicates that inactivation of the endothelin receptor b (ednrb) gene in the mouse causes aganglionic megacolon with spotted coat coloring [16], [17], and ednrb mutations are known to be associated with hirschsprung disease in patients with shah-waardenburg syndrome [18], [19]. |
| PubMedID- 22754447 | Both our patients had features of shah–waardenburg syndrome with extended long-segment aganglionosis, which is rare in occurrence. |
Page: 1