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Hirschsprung disease

Disease Summary
Associated Targets (24)
Tbio

21

Tclin

2

Tchem

1


GARD Rare
Mondo 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.
Disease Ontology Description A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel.
Mondo Term and Equivalent IDs
MONDO:0018309:  Hirschsprung disease
COHD:194149: 
GARD:0006660: 
MESH:D006627: 
NCIT:C34700: 
OMIMPS:142623: 
Orphanet:388: 
SCTID:204739008: 
UMLS:C0019569: 
UMLS:C3661523: