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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 5:155,763,877...155,772,048
Ensembl chr 5:155,763,877...155,772,040
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 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Pancreatic insufficiency ClinVar PMID:25741868, PMID:30311386 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Mtor mechanistic target of rapamycin kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:29384525 NCBI chr 5:165,263,813...165,373,967
Ensembl chr 5:165,263,800...165,373,967
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 OMIM:612714
DNA:mutation:cds:c.412G>A (p.E138K)(human)
OMIM
ClinVar
PMID:19268275, PMID:19268275 RGD:11344905 NCBI chr 3:148,234,546...148,245,424
Ensembl chr 3:148,234,193...148,245,416
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 NCBI chr 3:112,800,557...112,910,038
Ensembl chr 3:112,800,557...112,876,773
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 2:60,419,446...60,446,656
Ensembl chr 2:60,419,525...60,446,510
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
PMID:10393609, PMID:10556188, PMID:11553003, PMID:12496757, PMID:14749921, PMID:14984468, PMID:15284109, PMID:15769891, PMID:15860664, PMID:15942154, PMID:16047374, PMID:17478638, PMID:17916435, PMID:19148133, PMID:21536732, PMID:21695142, PMID:22191555, PMID:22934832, PMID:22935661, PMID:23351992, PMID:24033266, PMID:24388329, PMID:24629175, PMID:24898207, PMID:25525159, PMID:25741868, PMID:26822237, PMID:28509441, PMID:32581362, PMID:12496757 RGD:1599541 NCBI chr12:29,921,443...29,930,602
Ensembl chr12:29,921,443...29,930,600
JBrowse link
G Serpini2 serpin family I member 2 ISS OMIM:260400 MouseDO NCBI chr 2:173,640,385...173,670,790
Ensembl chr 2:173,640,385...173,668,555
JBrowse link
G Srp19 signal recognition particle 19 ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr18:27,114,822...27,121,062
Ensembl chr18:27,114,822...27,121,059
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 6:75,996,629...76,035,768
Ensembl chr 6:75,996,643...76,034,083
JBrowse link
G Srpra SRP receptor subunit alpha ISO ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1 ClinVar NCBI chr 8:36,410,683...36,416,766
Ensembl chr 8:36,410,683...36,416,296
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
OMIM
PMID:25741868, PMID:28331068 NCBI chr 1:144,601,425...144,740,634
Ensembl chr 1:144,601,410...144,740,735
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      gastrointestinal system disease 4621
        pancreas disease 1103
          exocrine pancreatic insufficiency 13
            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

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