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hypertrophic pyloric stenosis

Disease Summary
Associated Targets (16)
Tbio

13

Tclin

1

Tchem

1

Tdark

1


Mondo Description An abnormality characterized by thickening of the muscle in the wall of the pylorus. It results in the narrowing of the pyloric channel. The overlying mucosa may appear hypertrophic as well. Clinical signs and symptoms appear early in life and include projectile vomiting and dehydration.
Disease Ontology Description A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting.
Mondo Term and Equivalent IDs
MONDO:0001560:  hypertrophic pyloric stenosis
COHD:192433: 
DC:0000381: 
EFO:0004707: 
ICD10:Q40.0: 
ICD9:750.5: 
MESH:D046248: 
NCIT:C98952: 
SCTID:48644003: 
GWAS Targets (16)
Target
TDL
Study Count
SNP Count
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Tbio
3
2
0
1.4
81.7
Tbio
3
2
0
1.4
81.7
Tbio
3
2
0
1.4
81.7
Tbio
1
1
0
2.3
64
Tbio
1
1
0
2.3
64
Target
TDL
Beta Count
Odds Ratio
Evidence (Mean Rank Score)
Provenance
Tbio
0
1.4
81.7
Tbio
0
1.4
81.7
Tbio
0
1.4
81.7
Tbio
0
2.3
64
Tbio
0
2.3
64
Target Novelty (Tin-x)