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. The disease is Hirschsprung disease (Monarch Disease Ontology entry MONDO_0018309). Also known as: HSCR, Hirschsprung disease susceptibility, Hirschsprung's disease, aganglionic megacolon, congenital intestinal aganglionosis, congenital megacolon, pelvirectal achalasia.