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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 pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. (DO)
Synonyms:exact_synonym: EPI;   exocrine pancreatic insufficiencies;   pancreatic insufficiencies;   pancreatic insufficiency
 xref: ICD10CM:K86.81;   MESH:D010188;   MONDO:0001684;   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 5:154,912,170...154,920,333
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 4:47,422,084...47,694,646
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 5:164,167,985...164,277,438
Ensembl chr 5:158,884,804...158,994,311 		JBrowse link
G Si sucrase-isomaltase IEP RGD PMID:3114740 RGD:597538474 NCBI chr 2:159,804,568...159,884,902
Ensembl chr 2:157,506,342...157,585,260 		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 DNA:mutation:cds:c.412G>A (p.E138K)(human)
ClinVar Annotator: match by term: COX4I2-related condition | ClinVar Annotator: match by term: Pancreatic insufficiency-anemia-hyperostosis syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:19268275 PMID:25741868 PMID:28492532 PMID:19268275 RGD:11344905 NCBI chr 3:161,686,193...161,699,605
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
ISS		 ClinVar Annotator: match by term: Johanson-Blizzard syndrome | ClinVar Annotator: match by term: UBR1-related condition
CTD Direct Evidence: marker/mechanism
OMIM:243800
DNA:mutation:exon:exon 15, c.1759C>T, p.Q587X (human)
DNA:splice-site mutation:cds:IVS26+5G>A (human)		 OMIM
ClinVar
CTD
MouseDO
RGD		 PMID:16311597 PMID:18553553 PMID:19006206 PMID:19058315 PMID:20556423 More... RGD:155882463, RGD:155882462 NCBI chr 3:128,265,160...128,377,830
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
ClinVar Annotator: match by term: Shwachman syndrome | ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1		 CTD
ClinVar		 PMID:16199547 PMID:25741868 PMID:27346687 PMID:28062395 PMID:28492532 More... NCBI chr 2:61,146,669...61,173,908
Ensembl chr 2:59,419,510...59,446,752 		JBrowse link
G Sbds Sbds, ribosome maturation factor susceptibility ISO
ISS		 DNA:mutations:multiple
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1
OMIM:260400
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... RGD:1599541 NCBI chr12:32,056,649...32,065,816
Ensembl chr12:26,420,414...26,429,649 		JBrowse link
G Serpini2 serpin family I member 2 ISS OMIM:260400 MouseDO NCBI chr 2:162,313,325...162,342,875
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 chr18:26,205,888...26,212,171
Ensembl chr18:25,931,589...25,938,017 		JBrowse link
G Srp54a signal recognition particle 54A ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Shwachman-Diamond syndrome 1		 CTD
ClinVar		 PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977 NCBI chr 6:78,322,308...78,362,017
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 8:41,818,199...41,824,292
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: EFL1-related condition | ClinVar Annotator: match by term: Shwachman-Diamond syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28331068 PMID:28492532 PMID:29970384 PMID:31151987 More... NCBI chr 1:146,047,734...146,172,719
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 19139
    disease of anatomical entity 18451
      gastrointestinal system disease 7197
        pancreas disease 1256
          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