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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 2
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Accession:DOID:0060988 term browser browse the term
Definition:A pancreatic agenesis that has_material_basis_in homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12. (DO)
Synonyms:exact_synonym: PAGEN2;   PANCREATIC HYPOPLASIA, CONGENITAL 2
 alt_id: DOID:9007770
 xref: MIM:615935;   MONDO:0014406


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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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19106
    disease of anatomical entity 18445
      endocrine system disease 7029
        pancreas disease 1263
          pancreatic agenesis 4
            pancreatic agenesis 2 2
Path 2
Term Annotations click to browse term
  disease 19106
    Developmental Disease 14617
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13628
        genetic disease 13290
          monogenic disease 10876
            autosomal genetic disease 10360
              autosomal recessive disease 6959
                pancreatic agenesis 2 2
paths to the root