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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
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Accession:DOID:0050877 term browser browse the term
Definition:A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. (DO)
Synonyms:exact_synonym: PAGEN;   congenital pancreatic agenesis;   congenital pancreatic hypoplasia;   partial pancreatic agenesis
 primary_id: MESH:C564908
 alt_id: OMIM:PS260370
For additional species annotation, visit the Alliance of Genome Resources.


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pancreatic agenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata6 GATA binding protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158542 NCBI chr18:2,415,821...2,447,087
Ensembl chr18:2,416,552...2,446,338
JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22158542 NCBI chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213
JBrowse link
G Ptf1a pancreas associated transcription factor 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:15543146, PMID:22158542, PMID:24212882 NCBI chr17:86,199,623...86,201,477
Ensembl chr17:86,199,623...86,201,477
JBrowse link
Pancreatic Agenesis 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdx1 pancreatic and duodenal homeobox 1 ISO ClinVar Annotator: match by term: Pancreatic agenesis 1 OMIM
ClinVar
PMID:8506821, PMID:8988180, PMID:9326926, PMID:9649577, PMID:12970316, PMID:19496967, PMID:20009086, PMID:20621032, PMID:25741868 NCBI chr12:9,496,044...9,501,211
Ensembl chr12:9,496,044...9,501,213
JBrowse link
Pancreatic Agenesis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptf1a pancreas associated transcription factor 1a ISO ClinVar Annotator: match by term: Pancreatic agenesis 2 ClinVar
OMIM
NCBI chr17:86,199,623...86,201,477
Ensembl chr17:86,199,623...86,201,477
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      gastrointestinal system disease 4623
        pancreas disease 1103
          pancreatic agenesis 3
            Pancreatic Agenesis 1 1
            Pancreatic Agenesis 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.