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Hirschsprung disease, susceptibility to, 4

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene.
Uniprot Description A disorder of neural crest development characterized by absence of enteric ganglia along a variable length of the intestine. It is the most common cause of congenital intestinal obstruction. Early symptoms range from complete acute neonatal obstruction, characterized by vomiting, abdominal distention and failure to pass stool, to chronic constipation in the older child.
Mondo Term and Equivalent IDs
MONDO:0013384:  Hirschsprung disease, susceptibility to, 4