PedAM

Pediatric Disease Annotations & Medicines


	caroli disease

Disease ID	417
Disease	caroli disease
Definition	A rare congenital disorder characterized by cystic dilatation of the intrahepatic bile ducts. It is associated with cholangitis and the formation of stones.
Synonym	caroli dis caroli disease (disorder) caroli disease [disease/finding] caroli syndrome caroli's disease caroli's syndrome carolis dis carolis disease carolis syndrome congenital biliary ectasias congenital dilatation of lobar intrahepatic bile duct congenital dilatation of lobar intrahepatic bile duct (disorder) disease, caroli disease, caroli's syndrome, caroli's
Orphanet	ORPHANET:53035
DOID	DOID:0050876 DOID:898
UMLS	C0162510
MeSH	D016767
SNOMED-CT	SNOMEDCT_US_2016_09_01:111331000
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:15) C0022679 \| cystic kidney \| 5 C0085548 \| autosomal recessive polycystic kidney disease \| 4 C0023890 \| cirrhosis \| 2 C0022658 \| kidney disease \| 2 C0162510 \| caroli syndrome \| 1 C1691228 \| renal cystic disease \| 1 C0023895 \| liver disease \| 1 C0019204 \| hepatocellular carcinoma \| 1 C0020541 \| portal hypertension \| 1 C0023895 \| liver diseases \| 1 C0020538 \| hypertension \| 1 C0022679 \| cystic kidneys \| 1 C0687120 \| nephronophthisis \| 1 C0042345 \| varices \| 1 C0008370 \| bile stasis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) PKHD1 \| 5314 \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 5310 \| PKD1 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:17) 9479 \| MAPK8IP1 \| DISEASES 2006 \| ELN \| DISEASES 10343 \| PKDREJ \| DISEASES 182 \| JAG1 \| DISEASES 4069 \| LYZ \| DISEASES 84662 \| GLIS2 \| DISEASES 27130 \| INVS \| DISEASES 54658 \| UGT1A1 \| DISEASES 4867 \| NPHP1 \| DISEASES 27031 \| NPHP3 \| DISEASES 3880 \| KRT19 \| DISEASES 5314 \| PKHD1 \| DISEASES 177 \| AGER \| DISEASES 57728 \| WDR19 \| DISEASES 50489 \| CD207 \| DISEASES 91147 \| TMEM67 \| DISEASES 2108 \| ETFA \| DISEASES
Locus	Symbol \| Locus(Total Locus:1) PKHD1 \| 6p12.3-p12.2

Disease ID	417
Disease	caroli disease
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:12) HP:0001395 \| Hepatic fibrosis \| 6 HP:0002612 \| Congenital hepatic fibrosis \| 6 HP:0000113 \| Polycystic kidney dysplasia \| 5 HP:0030731 \| Carcinoma \| 2 HP:0000107 \| Renal cyst \| 2 HP:0001394 \| Hepatic cirrhosis \| 2 HP:0001402 \| Hepatocellular carcinoma \| 1 HP:0000090 \| juvenile nephronophthisis \| 1 HP:0030713 \| Vein of Galen malformation \| 1 HP:0001409 \| Portal hypertension \| 1 HP:0001824 \| Weight loss \| 1 HP:0000822 \| Hypertension \| 1

Disease ID	417
Disease	caroli disease
Manually Symptom	UMLS \| Name(Total Manually Symptoms:1) C0206698 \| cholangiocarcinoma
Text Mined Symptom	(Waiting for update.)

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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