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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:gastric outlet obstruction
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Accession:DOID:3122 term browser browse the term
Definition:The hindering of output from the STOMACH into the SMALL INTESTINE. This obstruction may be of mechanical or functional origin such as EDEMA from PEPTIC ULCER; NEOPLASMS; FOREIGN BODIES; or AGING.
Synonyms:exact_synonym: gastric outflow obstruction;   gastric outlet obstructions
 primary_id: MESH:D017219
 xref: EFO:1000947
For additional species annotation, visit the Alliance of Genome Resources.


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hypertrophic pyloric stenosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nos1 nitric oxide synthase 1 ISS OMIM:179010 | OMIM:300711 | OMIM:610260 | OMIM:612017 | OMIM:612525 MouseDO NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
Infantile Hypertrophic Pyloric Stenosis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nos1 nitric oxide synthase 1 ISO ClinVar Annotator: match by term: Pyloric stenosis, infantile hypertrophic, 1 ClinVar PMID:14757827 PMID:19851341 NCBI chr12:38,615,111...38,795,492
Ensembl chr12:38,626,714...38,710,945 		JBrowse link
Infantile Hypertrophic Pyloric Stenosis 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxf1 forkhead box F1 ISO ClinVar Annotator: match by term: Pyloric stenosis, infantile hypertrophic, 5 ClinVar NCBI chr19:49,153,949...49,157,741
Ensembl chr19:49,153,699...49,157,738 		JBrowse link
Pyloric Atresia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb4 integrin subunit beta 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7545057 PMID:18348258 NCBI chr10:101,206,657...101,243,012
Ensembl chr10:101,206,665...101,243,012 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      gastrointestinal system disease 7050
        stomach disease 1070
          gastric outlet obstruction 3
            Pyloric Atresia 1
            pyloric stenosis + 2
paths to the root