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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: Choledochal Cyst (D015529)
..Starting node ..Caroli Disease (D016767)
Child Nodes:
........Caroli disease isolated (C531647)
Sister Nodes:
..Caroli Disease (D016767) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	1785
Name:	Caroli Disease
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.
Alternative IDs:
ParentIDs:	MESH:D015529
TreeNumbers:	C06.130.120.127.500 \|C06.198.184.500 \|C16.131.314.184.500
Synonyms:	Caroli's Disease \|Carolis Disease \|Caroli's Syndrome \|Carolis Syndrome \|Caroli Syndrome \|Disease, Caroli \|Disease, Caroli's \|Syndrome, Caroli's
Slim Mappings:	Congenital abnormality\|Digestive system disease
Reference:	MedGen: D016767 MeSH: D016767 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants