Disease-gene associations mined from literature

Human genes for Hirschsprung's disease

Hirschsprung's disease [DOID:10487]

Hirschsprung disease (HD) is a disorder of the gut which is caused by the failure of the neural crest cells (enteric ganglion cells) to migrate completely during fetal development of the intestine. The affected segment of the colon fails to relax, causing an obstruction. In the majority of affected people, the disorder affects the short segment of the distal colon. In rare cases the aganglionosis involves more of the colon. In 5 percent of cases the entire colon is affected. Hirschsprung is also sometimes called congenital aganglionic megacolon.

Synonyms:  Hirschsprung's disease,  DOID:10487,  Hirschsprungs disease,  Hirschsprung's disorder,  Hirschsprung's syndrome ...

Linkouts:  OMIM #1 #2 #3 #4 #5 #6 #7 #8