Disease browser and phenotype portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Bile Duct Diseases (D001649)
Parent Node: Cysts (D003560)
Parent Node: Digestive System Abnormalities (D004065)
..Starting node ..Choledochal Cyst (D015529)
Child Nodes:
........Caroli Disease (D016767) 1
Sister Nodes:
..Absent duct of Santorini (C535567)
..Acrorenal mandibular syndrome (C535665)
..Acrorenal syndrome recessive (C535666)
..Anus, Imperforate (D001006) 21
..Barrett Esophagus (D001471) 1
..Biliary Atresia (D001656) 2
..Choledochal Cyst (D015529) 2
..Craniosynostosis, anal anomalies, and porokeratosis (C536789)
..Currarino triad (C536221)
..Diaphragmatic Eventration (D003965) 1
..Esophageal Atresia (D004933) 2
..Hirschsprung Disease (D006627) 22
..Intestinal Atresia (D007409) 11
..Meckel Diverticulum (D008467)
..VACTERL Association With Hydrocephalus (C564751)
..Volvulus Of Midgut (C562456)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	2099
Name:	Choledochal Cyst
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.
Alternative IDs:
ParentIDs:	MESH:D001649\|MESH:D003560\|MESH:D004065
TreeNumbers:	C04.182.198 \|C06.130.120.127 \|C06.198.184 \|C16.131.314.184
Synonyms:	Bile Duct Cyst \|Bile Duct Cysts \|Choledochal Cyst, Congenital \|Choledochal Cyst, Diverticulum \|Choledochal Cyst, Intrahepatic \|Choledochal Cyst, Multiple \|Choledochal Cysts \|Choledochal Cysts, Congenital \|Choledochal Cysts, Diverticulum \|Choledochal Cysts, Intrah
Slim Mappings:	Cancer\|Congenital abnormality\|Digestive system disease
Reference:	MedGen: D015529 MeSH: D015529 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants