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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:Caroli disease
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Accession:DOID:0050876 term browser browse the term
Definition:Congenital cystic dilatation of the intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC). It consists of 2 types: simple Caroli disease is characterized by bile duct dilatation (ectasia) alone; and complex Caroli disease is characterized by bile duct dilatation with extensive hepatic fibrosis and portal hypertension (HYPERTENSION, PORTAL). Benign renal tubular ectasia is associated with both types of Caroli disease.
Synonyms:exact_synonym: Caroli Syndrome;   Caroli's Disease;   Caroli's Syndrome;   Carolis Disease;   Carolis Syndrome
 primary_id: MESH:D016767;   RDO:0000074
 xref: GARD:6002;   NCI:C84619
For additional species annotation, visit the Alliance of Genome Resources.


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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 16058
    syndrome 6996
      ciliopathy 227
        Caroli disease 3
          Isolated Caroli Disease 0
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      gastrointestinal system disease 4621
        hepatobiliary disease 2494
          biliary tract disease 437
            bile duct disease 407
              choledochal cyst 8
                Caroli disease 3
                  Isolated Caroli Disease 0
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.