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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: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
 xref: ICD10CM:K86.81;   NCI:C84316
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
 
exocrine pancreatic insufficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cela3b chymotrypsin like elastase 3B ISO CTD Direct Evidence: marker/mechanism CTD PMID:14687815 NCBI chr 5:149,628,773...149,636,937
Ensembl chr 5:149,628,773...149,636,937
JBrowse link
G Cftr CF transmembrane conductance regulator onset ISO associated with cystic fibrosis; DNA:mutation:exon:p.R347P (human)
DNA:insertion:exon:c.3904_3905insT (human)
RGD PMID:8535440 PMID:9254853 RGD:4140448, RGD:4140401 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29384525 NCBI chr 5:158,884,856...158,994,311
Ensembl chr 5:158,884,804...158,994,311
JBrowse link
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cox4i2 cytochrome c oxidase subunit 4i2 ISO ClinVar Annotator: match by term: Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis
DNA:mutation:cds:c.412G>A (p.E138K)(human)
ClinVar Annotator: match by OMIM:612714
OMIM
ClinVar
RGD
PMID:19268275 PMID:25741868 PMID:19268275 RGD:11344905 NCBI chr 3:141,228,443...141,239,337
Ensembl chr 3:141,228,443...141,239,331
JBrowse link
Johanson-Blizzard syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubr1 ubiquitin protein ligase E3 component n-recognin 1 ISO ClinVar Annotator: match by term: Johanson-Blizzard syndrome
ClinVar Annotator: match by OMIM:243800
OMIM
ClinVar
PMID:16311597 PMID:18553553 PMID:19006206 PMID:24033266 PMID:25741868 More... NCBI chr 3:107,813,721...107,921,701
Ensembl chr 3:107,811,392...107,922,204
JBrowse link
Shwachman-Diamond syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc21 DnaJ heat shock protein family (Hsp40) member C21 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:59,419,505...59,446,743
Ensembl chr 2:59,419,510...59,446,752
JBrowse link
G Sbds SBDS, ribosome maturation factor ISO DNA:mutations:multiple
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
ClinVar Annotator: match by term: Shwachman syndrome
ClinVar Annotator: match by OMIM:260400
ClinVar
OMIM
RGD
PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... RGD:1599541 NCBI chr12:26,420,410...26,429,650
Ensembl chr12:26,420,414...26,429,649
JBrowse link
G Serpini2 serpin family I member 2 ISS OMIM:260400 MouseDO NCBI chr 2:160,014,721...160,044,271
Ensembl chr 2:160,014,721...160,044,280
JBrowse link
G Srp19 signal recognition particle 19 ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr18:25,931,734...25,937,974
Ensembl chr18:25,931,589...25,938,017
JBrowse link
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Shwachman syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:28972538 PMID:29914977 NCBI chr 6:72,587,582...72,645,154
Ensembl chr 6:72,587,605...72,625,189
JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr 8:33,560,365...33,566,458
Ensembl chr 8:33,560,348...33,566,470
JBrowse link
Shwachman-Diamond Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Efl1 elongation factor like GTPase 1 ISO ClinVar Annotator: match by term: SHWACHMAN-DIAMOND SYNDROME 2
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 2
ClinVar
OMIM
PMID:25741868 PMID:28331068 PMID:28492532 NCBI chr 1:136,638,527...136,763,518
Ensembl chr 1:136,638,527...136,763,518
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      gastrointestinal system disease 6078
        pancreas disease 1117
          exocrine pancreatic insufficiency 12
            Combined Exocrine Pancreatic Insufficiency 0
            Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis 1
            Johanson-Blizzard syndrome 1
            Shwachman-Diamond Syndrome 2 1
            Shwachman-Diamond syndrome 6
paths to the root