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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   bile duct cysts
  

Disease ID 1430
Disease bile duct cysts
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.
Synonym
bile duct cyst
bile duct, common, cystic dilatation
choledochal cyst
choledochal cyst [disease/finding]
choledochal cyst, congenital
choledochal cysts
choledochal cysts, congenital
choledochocele
choledochocele (disorder)
choledochoceles
choledochocoele
choledochocyst
choledochus cyst
choledochus, cyst
congenital biliary duct cyst
congenital choledochal cyst
congenital choledochal cyst (disorder)
congenital choledochal cysts
congenital common duct cyst
congenital cystic dilatation of common bile duct
cyst choledochal
cyst of the ductus choledochus
cyst, bile duct
cyst, choledochal
cyst, congenital choledochal
cystic dilatation of common bile duct
cystic dilatation of common bile duct (disorder)
cysts, bile duct
cysts, choledochal
cysts, congenital choledochal
duct cyst, bile
duct cysts, bile
OMIM
DOID
ICD10
UMLS
C0008340
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:27)
C0030305  |  pancreatitis  |  5
C0206698  |  cholangiocarcinoma  |  4
C0005411  |  biliary atresia  |  4
C0001339  |  acute pancreatitis  |  2
C0345905  |  intrahepatic cholangiocarcinoma  |  2
C0023890  |  cirrhosis  |  2
C0020541  |  portal hypertension  |  2
C0031154  |  peritonitis  |  2
C0149521  |  chronic pancreatitis  |  2
C0008370  |  cholestasis  |  2
C0019294  |  inguinal hernia  |  1
C0024141  |  systemic lupus erythematosus  |  1
C1337035  |  xanthogranulomatous cholecystitis  |  1
C0740277  |  bile duct cancer  |  1
C0010633  |  cystadenoma  |  1
C0008325  |  cholecystitis  |  1
C0020538  |  hypertension  |  1
C1879344  |  biliary papillomatosis  |  1
C0750952  |  biliary tract cancer  |  1
C0022354  |  obstructive jaundice  |  1
C0409974  |  lupus erythematosus  |  1
C0008312  |  biliary cirrhosis  |  1
C0149521  |  recurrent pancreatitis  |  1
C0235974  |  pancreas carcinoma  |  1
C0021828  |  intestinal atresia  |  1
C0023890  |  liver cirrhosis  |  1
C0701818  |  choledocholithiasis  |  1
Curated Gene(Waiting for update.)
Inferring Gene(Waiting for update.)
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:30)
2  |  A2M  |  1.265  |  DISEASES
174  |  AFP  |  1.197  |  DISEASES
177  |  AGER  |  2.298  |  DISEASES
229  |  ALDOB  |  2.034  |  DISEASES
885  |  CCK  |  1.822  |  DISEASES
23607  |  CD2AP  |  1.349  |  DISEASES
23436  |  CELA3B  |  1.861  |  DISEASES
57471  |  ERMN  |  4.271  |  DISEASES
2152  |  F3  |  1.138  |  DISEASES
2200  |  FBN1  |  1.523  |  DISEASES
2520  |  GAST  |  2.105  |  DISEASES
2632  |  GBE1  |  2.272  |  DISEASES
728441  |  GGT2  |  2.516  |  DISEASES
2736  |  GLI2  |  1.725  |  DISEASES
2778  |  GNAS  |  1.167  |  DISEASES
3065  |  HDAC1  |  1.323  |  DISEASES
90865  |  IL33  |  1.32  |  DISEASES
4599  |  MX1  |  1.329  |  DISEASES
5116  |  PCNT  |  2.345  |  DISEASES
5155  |  PDGFB  |  1.29  |  DISEASES
5293  |  PIK3CD  |  1.857  |  DISEASES
11201  |  POLI  |  2.079  |  DISEASES
5520  |  PPP2R2A  |  1.531  |  DISEASES
5646  |  PRSS3  |  2.02  |  DISEASES
5743  |  PTGS2  |  1.593  |  DISEASES
5265  |  SERPINA1  |  1.431  |  DISEASES
51284  |  TLR7  |  1.243  |  DISEASES
91147  |  TMEM67  |  2.926  |  DISEASES
57728  |  WDR19  |  3.422  |  DISEASES
6935  |  ZEB1  |  1.289  |  DISEASES
Locus(Waiting for update.)
Disease ID 1430
Disease bile duct cysts
Integrated Phenotype(Waiting for update.)
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:27)
HP:0001733  |  Pancreatic inflammation  |  6
HP:0030153  |  Cholangiocarcinoma  |  4
HP:0005912  |  Biliary duct atresia  |  4
HP:0000952  |  Yellow skin  |  3
HP:0030731  |  Carcinoma  |  3
HP:0001396  |  Cholestasis  |  2
HP:0001394  |  Hepatic cirrhosis  |  2
HP:0001735  |  Acute pancreatitis  |  2
HP:0001409  |  Portal hypertension  |  2
HP:0006280  |  Chronic pancreas inflammation  |  2
HP:0002586  |  Peritonitis  |  2
HP:0012281  |  Chylous ascites  |  1
HP:0000023  |  Inguinal hernia  |  1
HP:0009725  |  Bladder neoplasm  |  1
HP:0000822  |  Hypertension  |  1
HP:0002613  |  Biliary cirrhosis  |  1
HP:0011100  |  Intestinal atresia  |  1
HP:0001541  |  Ascites  |  1
HP:0002589  |  Gastrointestinal atresia  |  1
HP:0100762  |  Hemobilia  |  1
HP:0001082  |  Cholecystitis  |  1
HP:0002664  |  Neoplasia  |  1
HP:0002725  |  Systemic lupus erythematosus  |  1
HP:0100027  |  Recurring pancreatitis  |  1
HP:0011985  |  Discolored, acholic stools  |  1
HP:0001744  |  Splenomegaly  |  1
HP:0001627  |  Congenital heart defects  |  1
Disease ID 1430
Disease bile duct cysts
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:9)
C0030305  |  pancreatitis  |  5
C0206698  |  cholangiocarcinoma  |  4
C0005411  |  biliary atresia  |  4
C0008370  |  cholestasis  |  2
C0023890  |  liver cirrhosis  |  1
C0009814  |  stenosis  |  1
C0001339  |  acute pancreatitis  |  1
C0267768  |  biliary peritonitis  |  1
C0022354  |  obstructive jaundice  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:0)
(Waiting for update.)
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:0)
(Waiting for update.)
Mapped by homologous gene(Total Items:0)
(Waiting for update.)
Disease ID 1430
Disease bile duct cysts
Case(Waiting for update.)