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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:Infantile Hypertrophic Pyloric Stenosis 5
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Accession:DOID:9000179 term browser browse the term
Synonyms:exact_synonym: IHPS5
 primary_id: MESH:C567283
 alt_id: MIM:612525


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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 chr19:66,062,635...66,066,427
Ensembl chr19:66,062,369...66,066,428 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      gastrointestinal system disease 4904
        stomach disease 684
          gastric outlet obstruction 3
            pyloric stenosis 2
              hypertrophic pyloric stenosis 2
                Infantile Hypertrophic Pyloric Stenosis 5 1
paths to the root