pyloric stenosis, hypertrophic |
Disease ID | 1933 |
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Disease | pyloric stenosis, hypertrophic |
Synonym | cong pyloric stenosis congenital constriction of the pylorus congenital hypertrophic pyloric stenosis congenital hypertrophic pyloric stenosis (disorder) congenital hypertrophy of the pylorus congenital or infantile constriction of pylorus congenital or infantile hypertrophy of pylorus congenital or infantile stenosis of pylorus congenital or infantile stricture of pylorus congenital stricture of the pylorus hypertrophic pyloric stenosis infantile constriction of the pylorus infantile hypertrophy of the pylorus infantile pyloric stenosis infantile stricture of the pylorus pyloric hypertrophic stenosis pyloric stenosis, congenital hypertrophic pyloric stenosis, hypertrophic [disease/finding] stenosis pyloric hypertrophic congenital stenosis, hypertrophic pyloric |
DOID | |
ICD10 | |
MeSH | |
SNOMED-CT | |
Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0014850 | esophageal atresia | 1 C0019291 | hiatus hernia | 1 C0014527 | epidermolysis bullosa | 1 C0010495 | cutis laxa | 1 |
Curated Gene | (Waiting for update.) |
Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
Text Mined Gene | (Waiting for update.) |
Locus | (Waiting for update.) |
Disease ID | 1933 |
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Disease | pyloric stenosis, hypertrophic |
Integrated Phenotype | (Waiting for update.) |
Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0100790 | Hernia | 1 HP:0002578 | Gastroparesis | 1 HP:0002032 | Esophageal atresia | 1 HP:0003712 | Hypertrophic muscles | 1 HP:0002036 | Hiatus hernia | 1 HP:0000973 | Dermatomegaly | 1 HP:0002104 | Absence of spontaneous respiration | 1 HP:0002013 | Emesis | 1 |
Disease ID | 1933 |
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Disease | pyloric stenosis, hypertrophic |
Manually Symptom | (Waiting for update.) |
Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
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(Waiting for update.) |
All Snps(Total Genotypes:4) | |||||||||||||
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snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
rs11216185 | 22306654 | 23387 | SIK3 | umls:C0700639 | GAD | [Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.] | 0.002367032 | 2012 | SIK3 | 11 | 116912258 | T | G |
rs11712066 | 22306654 | 56670 | SUCNR1 | umls:C0700639 | GAD | [Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.] | 0.002367032 | 2012 | LOC105374161 | 3 | 152112520 | A | G |
rs29784 | 22306654 | 662 | BNIP1 | umls:C0700639 | GAD | [Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.] | 0.002367032 | 2012 | NA | 5 | 173168305 | C | T |
rs573872 | 22306654 | 152118 | C3orf79 | umls:C0700639 | GAD | [Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis.] | 0.002367032 | 2012 | LOC105374165 | 3 | 153754374 | T | G |
GWASdb Annotation(Total Genotypes:0) | |
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(Waiting for update.) |
GWASdb Snp Trait(Total Genotypes:0) | |
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(Waiting for update.) |
Mapped by lexical matching(Total Items:0) |
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(Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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(Waiting for update.) |
Chemical(Total Drugs:0) | |
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(Waiting for update.) |
FDA approved drug and dosage information(Total Drugs:0) | |
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(Waiting for update.) |
FDA labeling changes(Total Drugs:0) | |
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(Waiting for update.) |