Hirschsprung disease
MONDO:0018309Also known as: HSCR, Hirschsprung disease, Hirschsprung disease susceptibility, Hirschsprung's disease, aganglionic megacolon
- MONDO:
- MONDO:0018309
- Orphanet:
- 388 ↗
Rare disease35 associated genes
Description
Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.
Associated genes
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