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Hirschsprung disease

MONDO:0018309

Also 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

+25 more genes — install the extension to see the full list inline on any page.

External references

Sources: MONDO (CC BY 4.0), Open Targets (CC0), Orphanet (CC BY 4.0).

Not for sole clinical decision-making. Always verify against primary sources.