eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| caroli disease | ||||
| Disease ID | 934 |
|---|---|
| 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 | |
| DOID | |
| UMLS | C0162510 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0022679 | cystic kidney | 4 C0085548 | autosomal recessive polycystic kidney disease | 3 C0023890 | cirrhosis | 1 C0019204 | hepatocellular carcinoma | 1 C0023895 | liver disease | 1 C0687120 | nephronophthisis | 1 C0022658 | kidney disease | 1 C0023895 | liver diseases | 1 C1691228 | renal cystic disease | 1 C0022679 | cystic kidneys | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:8) |
| Locus | Symbol | Locus(Total Locus:1) PKHD1 | 6p12.3-p12.2 |
| Disease ID | 934 |
|---|---|
| Disease | caroli disease |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0000113 | Polycystic kidney dysplasia | 5 HP:0002612 | Congenital hepatic fibrosis | 5 HP:0001395 | Hepatic fibrosis | 5 HP:0000107 | Renal cyst | 2 HP:0030731 | Carcinoma | 2 HP:0001394 | Hepatic cirrhosis | 1 HP:0001402 | Hepatocellular carcinoma | 1 HP:0030713 | Vein of Galen malformation | 1 HP:0000090 | juvenile nephronophthisis | 1 HP:0001824 | Weight loss | 1 |
| Disease ID | 934 |
|---|---|
| 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) |
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| (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) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 934 |
|---|---|
| Disease | caroli disease |
| Case | (Waiting for update.) |