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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:choledochal cyst
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Accession:DOID:899 term browser browse the term
Definition:A congenital anatomic malformation of a bile duct, including cystic dilatation of the extrahepatic bile duct or the large intrahepatic bile duct. Classification is based on the site and type of dilatation. Type I is most common.
Synonyms:exact_synonym: Bile Duct Cyst;   Bile Duct Cysts;   Choledochal Cyst, Type I;   Choledochal Cyst, Type II;   Choledochal Cyst, Type III;   Choledochal Cyst, Type IV;   Choledochal Cyst, Type V;   Choledochal Cysts;   Choledochal Diverticulum;   Choledochal Diverticulums;   Choledochocele;   Choledochoceles;   Common Bile Duct Cyst;   Congenital Choledochal Cyst;   Congenital Choledochal Cysts;   Cysts, Common Bile Duct;   Diverticulum Choledochal Cyst;   Diverticulum Choledochal Cysts;   Intrahepatic Choledochal Cyst;   Intrahepatic Choledochal Cysts;   Multiple Choledochal Cyst;   Multiple Choledochal Cysts
 primary_id: MESH:D015529;   RDO:0000564
 xref: ICD10CM:Q44.4;   NCI:C2943
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
choledochal cyst term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aqp1 aquaporin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:85,551,503...85,563,683
Ensembl chr 4:85,551,502...85,569,360
JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:42,693,263...42,860,679
Ensembl chr 4:42,692,836...42,860,676
JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:
CTD PMID:18988797, PMID:15830394 RGD:14700991 NCBI chr 9:26,164,969...26,736,704 JBrowse link
G Sct secretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 1:214,264,865...214,277,437
Ensembl chr 1:214,264,754...214,265,668
JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:7,264,677...7,282,355
Ensembl chr 4:7,264,683...7,281,223
JBrowse link
Caroli disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Angpt2 angiopoietin 2 IEP protein:increased expression:bile duct (rat) RGD PMID:16628643 RGD:2314213 NCBI chr16:75,966,480...76,016,147
Ensembl chr16:75,966,352...76,016,195
JBrowse link
G Ttc26 tetratricopeptide repeat domain 26 ISO ClinVar Annotator: match by term: Caroli disease ClinVar NCBI chr 4:66,090,178...66,147,998
Ensembl chr 4:66,090,209...66,148,001
JBrowse link
G Wdr19 WD repeat domain 19 ISO associated with Nephronophthisis 13;DNA:missense mutations:cds:multiple (human) RGD PMID:25726036 RGD:11528287 NCBI chr14:44,705,012...44,767,120
Ensembl chr14:44,705,012...44,767,120
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    disease of cellular proliferation 5913
      Cysts 266
        choledochal cyst 8
          Caroli disease + 3
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      gastrointestinal system disease 4673
        hepatobiliary disease 2486
          biliary tract disease 437
            bile duct disease 407
              choledochal cyst 8
                Caroli disease + 3
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.