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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;   pancreatic hypoplasia
 narrow_synonym: partial pancreatic agenesis
 broad_synonym: PDX1-RELATED DISORDER
 alt_id: DOID:9003314;   DOID:9009230
 xref: GARD:4203;   MESH:C564908;   MIM:PS260370;   MONDO:0009832;   ORDO:2805


show annotations for term's descendants           Sort by:
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 chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G Pdx1 pancreatic and duodenal homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Pancreatic hypoplasia		 CTD
ClinVar		 PMID:10720084 PMID:11270685 PMID:11772903 PMID:11978663 PMID:12099699 More... NCBI chr12:7,757,865...7,763,064
Ensembl chr12:7,757,865...7,763,064 		JBrowse link
G Ptf1a pancreas associated transcription factor 1a ISO CTD Direct Evidence: marker/mechanism CTD PMID:15543146 PMID:22158542 PMID:24212882 NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135 		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 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
pancreatic agenesis 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C17h10orf67 similar to human chromosome 10 open reading frame 67 ISO ClinVar Annotator: match by term: Pancreatic agenesis 2 ClinVar PMID:25741868 NCBI chr17:82,062,461...82,174,401
Ensembl chr17:82,071,838...82,174,353 		JBrowse link
G Ptf1a pancreas associated transcription factor 1a ISO ClinVar Annotator: match by term: PANCREATIC HYPOPLASIA, CONGENITAL 2 OMIM
ClinVar		 PMID:18591390 PMID:25741868 PMID:25775927 PMID:28492532 NCBI chr17:82,051,281...82,053,135
Ensembl chr17:82,051,281...82,053,135 		JBrowse link
pancreatic hypoplasia-diabetes-congenital heart disease syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gata6 GATA binding protein 6 ISO ClinVar Annotator: match by term: GATA6-related congenital heart disease with or without pancreatic agenesis or neonatal diabetes | ClinVar Annotator: match by term: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome OMIM
ClinVar		 PMID:8071961 PMID:19666519 PMID:20581743 PMID:22158542 PMID:22962692 More... NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      gastrointestinal system disease 7177
        pancreas disease 1263
          pancreatic agenesis 4
            Pancreas Agenesis, Dorsal 0
            Pancreatic Agenesis 3 0
            pancreatic agenesis 1 1
            pancreatic agenesis 2 2
            pancreatic hypoplasia-diabetes-congenital heart disease syndrome 1
paths to the root