PedAM
Pediatric Disease Annotations & Medicines
| congenital hepatic fibrosis | ||||
| Disease ID | 1688 |
|---|---|
| Disease | congenital hepatic fibrosis |
| Definition | A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts. |
| Synonym | congenital fibrose liver congenital fibrosis liver congenital hepatic fibrosis (disorder) congenital liver fibrosis hepatic fibrosis, congenital |
| UMLS | C0009714 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:17) C0431399 | joubert syndrome | 3 C0020541 | portal hypertension | 3 C0023890 | cirrhosis | 2 C0020538 | hypertension | 2 C0162510 | caroli's disease | 2 C0162510 | caroli disease | 2 C0019204 | hepatocellular carcinoma | 1 C0162510 | caroli syndrome | 1 C0206669 | hepatocellular adenomas | 1 C0022658 | kidney disease | 1 C0162510 | caroli's syndrome | 1 C0085548 | autosomal recessive polycystic kidney disease | 1 C0008311 | cholangitis | 1 C0022679 | cystic kidney | 1 C0206669 | hepatocellular adenoma | 1 C0022658 | kidney diseases | 1 C0042345 | varices | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1688 |
|---|---|
| Disease | congenital hepatic fibrosis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0001409 | Portal hypertension | 3 HP:0000822 | Hypertension | 2 HP:0001394 | Hepatic cirrhosis | 2 HP:0001744 | Splenomegaly | 1 HP:0001402 | Hepatocellular carcinoma | 1 HP:0002584 | Intestinal hemorrhage | 1 HP:0030151 | Cholangitis | 1 HP:0012028 | Hepatocellular adenoma | 1 HP:0000113 | Polycystic kidney dysplasia | 1 HP:0002239 | Gastrointestinal hemorrhage | 1 |
| Disease ID | 1688 |
|---|---|
| Disease | congenital hepatic fibrosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:18) C2062979 | spontaneous bacterial peritonitis C1963101 | encephalopathy C1868851 | portopulmonary hypertension C1167707 | cerebellar hemangioma C0600452 | hepato-pulmonary syndrome C0267918 | chronic cholangitis C0239946 | liver fibrosis C0162510 | caroli's disease C0162510 | caroli syndrome C0085605 | hepatic failure C0085413 | autosomal dominant polycystic kidney disease C0022681 | medullary sponge kidney C0022680 | polycystic kidney disease C0020541 | portal hypertension C0019214 | hepatosplenomegaly C0018920 | cavernoma C0014867 | esophageal varices C0008370 | cholestasis |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:4) C0020541 | portal hypertension | 3 C0162510 | caroli's disease | 2 C0162510 | caroli syndrome | 1 C0022680 | polycystic kidney disease | 1 |
Manually Genotype(Total Text Mining Genotypes:0) |
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All Snps(Total Genotypes:0) | |
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GWASdb Annotation(Total Genotypes:0) | |
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GWASdb Snp Trait(Total Genotypes:0) | |
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Mapped by lexical matching(Total Items:0) |
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Mapped by homologous gene(Total Items:0) |
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Chemical(Total Drugs:0) | |
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FDA approved drug and dosage information(Total Drugs:0) | |
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FDA labeling changes(Total Drugs:0) | |
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