PedAM

Pediatric Disease Annotations & Medicines


	choledochal cyst

Disease ID	1222
Disease	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.
Synonym	bile duct cyst bile duct cysts bile duct, common, cystic dilatation 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	OMIM:603003
DOID	DOID:899
ICD10	ICD10CM:Q44.4
UMLS	C0008340
MeSH	D015529
SNOMED-CT	SNOMEDCT_US_2016_09_01:398197009;SNOMEDCT_US_2016_09_01:397868007;SNOMEDCT_US_2016_09_01:440471007
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:29) C0206698 \| cholangiocarcinoma \| 5 C0030305 \| pancreatitis \| 5 C0005411 \| biliary atresia \| 4 C0008370 \| cholestasis \| 2 C0149521 \| chronic pancreatitis \| 2 C0023890 \| cirrhosis \| 2 C0031154 \| peritonitis \| 2 C0020541 \| portal hypertension \| 2 C0345905 \| intrahepatic cholangiocarcinoma \| 2 C0149521 \| recurrent pancreatitis \| 1 C0023890 \| liver cirrhosis \| 1 C0409974 \| lupus erythematosus \| 1 C0020538 \| hypertension \| 1 C0010633 \| cystadenoma \| 1 C0008311 \| cholangitis \| 1 C0019294 \| inguinal hernia \| 1 C1337035 \| xanthogranulomatous cholecystitis \| 1 C0153452 \| gallbladder cancer \| 1 C0153452 \| gallbladder ca \| 1 C0740277 \| bile duct cancer \| 1 C0750952 \| biliary tract cancer \| 1 C0008312 \| biliary cirrhosis \| 1 C0005684 \| bladder cancer \| 1 C1879344 \| biliary papillomatosis \| 1 C0021828 \| intestinal atresia \| 1 C0008325 \| cholecystitis \| 1 C0022354 \| obstructive jaundice \| 1 C0024141 \| systemic lupus erythematosus \| 1 C0001339 \| acute pancreatitis \| 1
Curated Gene	(Waiting for update.)
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:49) 608 \| TNFRSF17 \| DISEASES 6343 \| SCT \| DISEASES 1113 \| CHGA \| DISEASES 7392 \| USF2 \| DISEASES 8288 \| EPX \| DISEASES 566 \| AZU1 \| DISEASES 5911 \| RAP2A \| DISEASES 2678 \| GGT1 \| DISEASES 968 \| CD68 \| DISEASES 3845 \| KRAS \| DISEASES 23314 \| SATB2 \| DISEASES 7157 \| TP53 \| DISEASES 167410 \| LIX1 \| DISEASES 6326 \| SCN2A \| DISEASES 6750 \| SST \| DISEASES 89858 \| SIGLEC12 \| DISEASES 1990 \| CELA1 \| DISEASES 7098 \| TLR3 \| DISEASES 3265 \| HRAS \| DISEASES 2 \| A2M \| DISEASES 5520 \| PPP2R2A \| DISEASES 2200 \| FBN1 \| DISEASES 5155 \| PDGFB \| DISEASES 2520 \| GAST \| DISEASES 2152 \| F3 \| DISEASES 885 \| CCK \| DISEASES 23436 \| CELA3B \| DISEASES 5265 \| SERPINA1 \| DISEASES 23607 \| CD2AP \| DISEASES 5116 \| PCNT \| DISEASES 5646 \| PRSS3 \| DISEASES 6935 \| ZEB1 \| DISEASES 2736 \| GLI2 \| DISEASES 5743 \| PTGS2 \| DISEASES 2778 \| GNAS \| DISEASES 3065 \| HDAC1 \| DISEASES 229 \| ALDOB \| DISEASES 177 \| AGER \| DISEASES 5293 \| PIK3CD \| DISEASES 51284 \| TLR7 \| DISEASES 90865 \| IL33 \| DISEASES 174 \| AFP \| DISEASES 57471 \| ERMN \| DISEASES 4599 \| MX1 \| DISEASES 57728 \| WDR19 \| DISEASES 728441 \| GGT2 \| DISEASES 91147 \| TMEM67 \| DISEASES 2632 \| GBE1 \| DISEASES 11201 \| POLI \| DISEASES
Locus	(Waiting for update.)

Disease ID	1222
Disease	choledochal cyst
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:28) HP:0001733 \| Pancreatic inflammation \| 5 HP:0030153 \| Cholangiocarcinoma \| 5 HP:0005912 \| Biliary duct atresia \| 4 HP:0000952 \| Yellow skin \| 3 HP:0006280 \| Chronic pancreas inflammation \| 2 HP:0030731 \| Carcinoma \| 2 HP:0001394 \| Hepatic cirrhosis \| 2 HP:0001396 \| Cholestasis \| 2 HP:0002586 \| Peritonitis \| 2 HP:0001409 \| Portal hypertension \| 2 HP:0001735 \| Acute pancreatitis \| 1 HP:0001082 \| Cholecystitis \| 1 HP:0100762 \| Hemobilia \| 1 HP:0000023 \| Inguinal hernia \| 1 HP:0002613 \| Biliary cirrhosis \| 1 HP:0002725 \| Systemic lupus erythematosus \| 1 HP:0002589 \| Gastrointestinal atresia \| 1 HP:0011100 \| Intestinal atresia \| 1 HP:0100027 \| Recurring pancreatitis \| 1 HP:0009725 \| Bladder neoplasm \| 1 HP:0001541 \| Ascites \| 1 HP:0001744 \| Splenomegaly \| 1 HP:0011985 \| Discolored, acholic stools \| 1 HP:0030151 \| Cholangitis \| 1 HP:0002664 \| Neoplasia \| 1 HP:0000822 \| Hypertension \| 1 HP:0012281 \| Chylous ascites \| 1 HP:0001627 \| Congenital heart defects \| 1

Disease ID	1222
Disease	choledochal cyst
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:9) C0206698 \| cholangiocarcinoma \| 5 C0030305 \| pancreatitis \| 5 C0005411 \| biliary atresia \| 4 C0008370 \| cholestasis \| 2 C0001339 \| acute pancreatitis \| 1 C0009814 \| stenosis \| 1 C0023890 \| liver cirrhosis \| 1 C0267768 \| biliary peritonitis \| 1 C0022354 \| obstructive jaundice \| 1

Manually Genotype(Total Text Mining 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.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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