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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 bile duct disease characterized by cystic dilation of one or more extrahepatic or intrahepatic bile ducts. (DO)
Synonyms:exact_synonym: Bile Duct Cyst;   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;   bile duct cysts;   biliary cyst;   multiple choledochal cysts
 primary_id: MESH:D015529
 alt_id: MIM:603003
 xref: GARD:9229;   ICD10CM:Q44.4;   NCI:C2943;   ORDO:480501
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 4:84,482,512...84,494,690
Ensembl chr 4:84,482,512...84,494,690 		JBrowse link
G Cftr CF transmembrane conductance regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:		 CTD
RGD		 PMID:18988797 PMID:15830394 RGD:14700991 NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
G Sct secretin ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 1:196,382,857...196,383,668
Ensembl chr 1:196,382,856...196,383,658 		JBrowse link
G Slc4a2 solute carrier family 4 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18988797 NCBI chr 4:10,736,419...10,754,407
Ensembl chr 4:10,736,425...10,752,965 		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 chr16:71,088,364...71,138,805
Ensembl chr16:71,088,364...71,138,804 		JBrowse link
G Ift56 intraflagellar transport 56 ISO ClinVar Annotator: match by term: Caroli disease ClinVar PMID:25741868 PMID:31595528 PMID:32617964 NCBI chr 4:67,090,622...67,154,707
Ensembl chr 4:67,090,660...67,147,903 		JBrowse link
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Caroli disease ClinVar PMID:1189128 PMID:11898128 PMID:12846734 PMID:12874454 PMID:15108277 More... NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		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 chr14:43,042,474...43,106,337
Ensembl chr14:43,042,478...43,106,288 		JBrowse link
Isolated Caroli Disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pkhd1 PKHD1 ciliary IPT domain containing fibrocystin/polyductin ISO ClinVar Annotator: match by term: Cystic dilatation of the intrahepatic biliary tree ClinVar PMID:1189128 PMID:11898128 PMID:12874454 PMID:15698423 PMID:15805161 More... NCBI chr 9:22,547,396...23,037,443
Ensembl chr 9:22,549,513...23,037,381 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19055
    disease of cellular proliferation 7785
      Cysts 300
        choledochal cyst 8
          Caroli disease + 4
Path 2
Term Annotations click to browse term
  disease 19055
    disease of anatomical entity 18391
      gastrointestinal system disease 7174
        hepatobiliary disease 3112
          biliary tract disease 540
            bile duct disease 496
              choledochal cyst 8
                Caroli disease + 4
paths to the root