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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:hypertrophic pyloric stenosis
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Accession:DOID:12638 term browser browse the term
Definition:A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting. (DO)
Synonyms:exact_synonym: OMIM:PS179010;   congenital hypertrophic pyloric stenosis;   congenital or infantile stricture of pylorus
 primary_id: MESH:D046248
 xref: EFO:0004707;   ICD10CM:Q40.0;   ICD9CM:750.5;   NCI:C98952
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      gastrointestinal system disease 7093
        stomach disease 1072
          gastric outlet obstruction 3
            pyloric stenosis 2
              hypertrophic pyloric stenosis 2
                Infantile Hypertrophic Pyloric Stenosis 1 1
                Infantile Hypertrophic Pyloric Stenosis 2 0
                Infantile Hypertrophic Pyloric Stenosis 3 0
                Infantile Hypertrophic Pyloric Stenosis 4 0
                Infantile Hypertrophic Pyloric Stenosis 5 1
paths to the root