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Hirschsprung disease

Disease Summary
Associated Targets (23)
Tbio

20

Tclin

2

Tchem

1


Explore Associated Targets
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: 
GWAS Targets (10)
Target
TDL
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Tclin
3
4
0
5.3
97.8
Tbio
3
4
0
5.3
97.8
Tbio
2
2
0
1.9
63
Tdark
1
1
0
20.3
60.5
Tdark
1
1
0
1.9
21
Target
TDL
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Tclin
0
5.3
97.8
Tbio
0
5.3
97.8
Tbio
0
1.9
63
Tdark
0
20.3
60.5
Tdark
0
1.9
21
Disease Hierarchy
Target Novelty (Tin-x)