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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:Pancreatic Agenesis 1
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Accession:DOID:9003314 term browser browse the term
Synonyms:exact_synonym: PAGEN1
 broad_synonym: PDX1-RELATED DISORDER
 primary_id: OMIM:260370


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Pancreatic Agenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdx1 pancreatic and duodenal homeobox 1 susceptibility ISO ClinVar Annotator: match by term: PDX1-Related Disorder | ClinVar Annotator: match by term: Pancreatic agenesis 1 ClinVar
OMIM		 PMID:8506821 PMID:8988180 PMID:9326926 PMID:9649577 PMID:12970316 More... NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21126
    disease of anatomical entity 18213
      gastrointestinal system disease 7051
        pancreas disease 1215
          pancreatic agenesis 4
            Pancreatic Agenesis 1 1
paths to the root