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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hirschsprung disease
Comorbidity C0043008|waardenburg syndrome
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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].

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