ONTOLOGY REPORT - ANNOTATIONS


Term:exocrine pancreatic insufficiency
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Accession:DOID:13316 term browser browse the term
Definition:A malabsorption condition resulting from greater than 10% reduction in the secretion of pancreatic digestive enzymes (LIPASE; PROTEASES; and AMYLASE) by the EXOCRINE PANCREAS into the DUODENUM. This condition is often associated with CYSTIC FIBROSIS and with chronic PANCREATITIS.
Synonyms:exact_synonym: Exocrine Pancreatic Insufficiencies;   Pancreatic Insufficiencies;   Pancreatic Insufficiency
 primary_id: MESH:D010188;   RDO:0003152
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exocrine pancreatic insufficiency term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cela3b chymotrypsin like elastase 3B JBrowse link 5 155,763,877 155,772,048 RGD:11554173
G Cftr cystic fibrosis transmembrane conductance regulator JBrowse link 4 42,693,263 42,860,679 RGD:4140448
RGD:4140401
G Sbds SBDS, ribosome maturation factor JBrowse link 12 29,921,443 29,930,602 RGD:1599541
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cox4i2 cytochrome c oxidase subunit 4i2 JBrowse link 3 148,234,546 148,245,424 RGD:7240710
RGD:8554872
RGD:11344905
Shwachman-Diamond syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 JBrowse link 2 60,419,446 60,446,656 RGD:11554173
G Kmt2b lysine methyltransferase 2B JBrowse link 1 89,022,889 89,042,176 RGD:8554872
G Sbds SBDS, ribosome maturation factor JBrowse link 12 29,921,443 29,930,602 RGD:7240710
RGD:8554872
G Serpini2 serpin family I member 2 JBrowse link 2 173,640,385 173,670,790 RGD:13592920
G Srp54a signal recognition particle 54A JBrowse link 6 75,996,629 76,035,768 RGD:8554872
RGD:11554173
Shwachman-Diamond Syndrome 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Efl1 elongation factor like GTPase 1 JBrowse link 1 144,601,425 144,740,634 RGD:8554872
RGD:7240710

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  disease 14875
    disease of anatomical entity 14051
      gastrointestinal system disease 4251
        pancreas disease 1071
          exocrine pancreatic insufficiency 9
            Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 1
            Pancreatic Insufficiency, Combined Exocrine 0
            Shwachman-Diamond Syndrome 2 1
            Shwachman-Diamond syndrome 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.