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- Rare hepatic disease ORPHA:57146
- Transient familial neonatal hyperbilirubinemia ORPHA:2312
- Rare vascular liver disease ORPHA:101938
- Hereditary hemorrhagic telangiectasia ORPHA:774
- Idiopathic peliosis hepatis ORPHA:480524
- Congenital anomaly of hepatic vein ORPHA:95507
- Congenital portosystemic shunt ORPHA:480531
- Budd-Chiari syndrome ORPHA:131
- Hepatic veno-occlusive disease ORPHA:890
- Non-malignant and non-cirrhotic portal vein thrombosis ORPHA:854
- Hepatic veno-occlusive disease-immunodeficiency syndrome ORPHA:79124
- Portosinusoidal vascular disease ORPHA:596937
- Rare parenchymal liver disease ORPHA:101939
- Autoimmune hepatitis ORPHA:2137
- Autoimmune hepatitis type 1 ORPHA:563576
- Autoimmune hepatitis type 2 ORPHA:563581
- Seronegative autoimmune hepatitis ORPHA:563589
- Hepatic fibrosis-renal cysts-intellectual disability syndrome ORPHA:2031
- Fulminant viral hepatitis ORPHA:35063
- Syndromic diarrhea ORPHA:84064
- Inflammatory pseudotumor of the liver ORPHA:90003
- Fibrohistiocytic inflammatory pseudotumor of the liver ORPHA:555434
- Lymphoplasmacytic inflammatory pseudotumor of the liver ORPHA:555437
- Idiopathic copper-associated cirrhosis ORPHA:209919
- Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome ORPHA:210136
- Acute fatty liver of pregnancy ORPHA:243367
- Transient infantile hypertriglyceridemia and hepatosteatosis ORPHA:300293
- Acute infantile liver failure-multisystemic involvement syndrome ORPHA:370088
- Growth retardation-mild developmental delay-chronic hepatitis syndrome ORPHA:391366
- Ferro-cerebro-cutaneous syndrome ORPHA:397922
- Autosomal recessive polycystic kidney disease ORPHA:731
- Isolated congenital hepatic fibrosis ORPHA:485426
- NPHP3-related Meckel-like syndrome ORPHA:3032
- Fever-associated acute infantile liver failure syndrome ORPHA:464724
- Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome ORPHA:466794
- Growth delay-intellectual disability-hepatopathy syndrome ORPHA:541423
- Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency ORPHA:440427
- Joubert syndrome with hepatic defect ORPHA:1454
- Renal-hepatic-pancreatic dysplasia ORPHA:294415
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ORPHA:217371
- Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome ORPHA:562639
- Rare metabolic liver disease ORPHA:101940
- Acid sphingomyelinase deficiency ORPHA:618899
- Infantile neurovisceral acid sphingomyelinase deficiency ORPHA:77292
- Chronic visceral acid sphingomyelinase deficiency ORPHA:77293
- Chronic neurovisceral acid sphingomyelinase deficiency ORPHA:618891
- Glycogen storage disease due to glycogen debranching enzyme deficiency ORPHA:366
- Classic galactosemia ORPHA:79239
- Ferro-cerebro-cutaneous syndrome ORPHA:397922
- Intrahepatic cholestasis of pregnancy ORPHA:69665
- Glycogen storage disease due to glycogen branching enzyme deficiency ORPHA:367
- Adult polyglucosan body disease ORPHA:206583
- Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form ORPHA:308621
- Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form ORPHA:308638
- Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form ORPHA:308655
- Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form ORPHA:308670
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form ORPHA:308684
- Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form ORPHA:308698
- Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form ORPHA:308712
- Glycogen storage disease due to liver glycogen phosphorylase deficiency ORPHA:369
- Wilson disease ORPHA:905
- Alpha-1-antitrypsin deficiency ORPHA:60
- Crigler-Najjar syndrome ORPHA:205
- Galactose epimerase deficiency ORPHA:79238
- Erythrocyte galactose epimerase deficiency ORPHA:308473
- Generalized galactose epimerase deficiency ORPHA:308487
- Neonatal hemochromatosis ORPHA:446
- Hereditary fructose intolerance ORPHA:469
- Glycogen storage disease due to glucose-6-phosphatase deficiency ORPHA:364
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia ORPHA:79258
- Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib ORPHA:79259
- Dubin-Johnson syndrome ORPHA:234
- Rotor syndrome ORPHA:3111
- Steroid dehydrogenase deficiency-dental anomalies syndrome ORPHA:3196
- Tyrosinemia type 1 ORPHA:882
- Fanconi-Bickel syndrome ORPHA:2088
- Peroxisome biogenesis disorder ORPHA:79189
- Zellweger syndrome ORPHA:912
- Neonatal adrenoleukodystrophy ORPHA:44
- Infantile Refsum disease ORPHA:772
- Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency ORPHA:79240
- Mitochondrial DNA depletion syndrome, hepatocerebral form ORPHA:254871
- Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency ORPHA:279934
- Mitochondrial DNA depletion syndrome, hepatocerebrorenal form ORPHA:363534
- Navajo neurohepatopathy ORPHA:255229
- Infantile-onset spinocerebellar ataxia ORPHA:1186
- Alpers-Huttenlocher syndrome ORPHA:726
- Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ORPHA:137681
- Dietary iron overload disease ORPHA:139507
- Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins ORPHA:217371
- Rare hereditary hemochromatosis ORPHA:220489
- Symptomatic form of HFE-related hemochromatosis ORPHA:465508
- Non-HFE-related hemochromatosis ORPHA:648569
- TFR2-related hemochromatosis ORPHA:225123
- SLC40A1-related hemochromatosis ORPHA:647834
- HJV or HAMP-related hemochromatosis ORPHA:79230
- Digenic hemochromatosis ORPHA:648581
- FTH1-related iron overload ORPHA:247790
- Glycogen storage disease due to liver phosphorylase kinase deficiency ORPHA:264580
- Familial intrahepatic cholestasis ORPHA:284385
- Progressive familial intrahepatic cholestasis ORPHA:172
- Progressive familial intrahepatic cholestasis type 2 ORPHA:79304
- Progressive familial intrahepatic cholestasis type 3 ORPHA:79305
- Progressive familial intrahepatic cholestasis type 1 ORPHA:79306
- Progressive familial intrahepatic cholestasis type 4 ORPHA:480483
- MYO5B-related progressive familial intrahepatic cholestasis ORPHA:480491
- Hereditary North American Indian childhood cirrhosis ORPHA:168583
- Progressive familial intrahepatic cholestasis type 5 ORPHA:480476
- Benign recurrent intrahepatic cholestasis ORPHA:65682
- Benign recurrent intrahepatic cholestasis type 1 ORPHA:99960
- Benign recurrent intrahepatic cholestasis type 2 ORPHA:99961
- Bile acid synthesis defect with cholestasis and malabsorption ORPHA:163631
- Cerebrotendinous xanthomatosis ORPHA:909
- Congenital bile acid synthesis defect ORPHA:485631
- Congenital bile acid synthesis defect type 4 ORPHA:79095
- Congenital bile acid synthesis defect type 3 ORPHA:79302
- Congenital bile acid synthesis defect type 2 ORPHA:79303
- Congenital bile acid synthesis defect type 1 ORPHA:79301
- Familial hypercholanemia ORPHA:238475
- Bile acid CoA ligase deficiency and defective amidation ORPHA:276066
- Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome ORPHA:309854
- CADDS ORPHA:369942
- Congenital disorder of glycosylation with hepatic involvement ORPHA:371157
- PMM2-CDG ORPHA:79318
- MPI-CDG ORPHA:79319
- ALG8-CDG ORPHA:79325
- ALG2-CDG ORPHA:79326
- ALG9-CDG ORPHA:79328
- MOGS-CDG ORPHA:79330
- B4GALT1-CDG ORPHA:79332
- RFT1-CDG ORPHA:244310
- COG4-CDG ORPHA:263501
- DDOST-CDG ORPHA:300536
- TMEM165-CDG ORPHA:314667
- PGM1-CDG ORPHA:319646
- ALG13-CDG ORPHA:324422
- Congenital muscular dystrophy with intellectual disability and severe epilepsy ORPHA:329178
- ATP6AP1-CDG ORPHA:692790
- Ferroportin disease ORPHA:648562
- Hepatic porphyria ORPHA:659694
- Acute hepatic porphyria ORPHA:95157
- Porphyria due to ALA dehydratase deficiency ORPHA:100924
- Hereditary coproporphyria ORPHA:79273
- Acute intermittent porphyria ORPHA:79276
- Variegate porphyria ORPHA:79473
- Hepatic cutaneous porphyria ORPHA:659698
- GRACILE syndrome ORPHA:53693
- Renal tubulopathy-encephalopathy-liver failure syndrome ORPHA:254902
- Wolman disease ORPHA:75233
- Cholesteryl ester storage disease ORPHA:75234
- Citrullinemia type II ORPHA:247585
- Rare biliary tract disease ORPHA:101941
- Parenteral nutrition-associated cholestasis ORPHA:567983
- Isolated gallbladder duplication ORPHA:662388
- Caroli syndrome ORPHA:480520
- Idiopathic ductopenia ORPHA:480512
- Primary intrahepatic lithiasis ORPHA:480506
- Choledochal cyst ORPHA:480501
- Sclerosing cholangitis ORPHA:447771
- Neonatal ichthyosis-sclerosing cholangitis syndrome ORPHA:59303
- Isolated neonatal sclerosing cholangitis ORPHA:480556
- Primary sclerosing cholangitis ORPHA:171
- IgG4-related sclerosing cholangitis ORPHA:447764
- Secondary sclerosing cholangitis ORPHA:447774
- Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome ORPHA:562639
- Cystic fibrosis ORPHA:586
- Isolated polycystic liver disease ORPHA:2924
- Alagille syndrome ORPHA:52
- Alagille syndrome due to 20p12 microdeletion ORPHA:261600
- Alagille syndrome due to a JAG1 point mutation ORPHA:261619
- Alagille syndrome due to a NOTCH2 point mutation ORPHA:261629
- Congenital respiratory-biliary fistula ORPHA:2040
- Primary biliary cholangitis ORPHA:186
- Reynolds syndrome ORPHA:779
- Biliary atresia and associated disorders ORPHA:498345
- Caroli disease ORPHA:53035
- Low phospholipid-associated cholelithiasis ORPHA:69663
- Follicular cholangitis and pancreatitis ORPHA:300552
- Isolated agenesis of gallbladder ORPHA:440987
- Mirizzi syndrome ORPHA:521219
- Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome ORPHA:521432
- Arthrogryposis-renal dysfunction-cholestasis syndrome ORPHA:2697
- Rare hepatic and biliary tract tumor ORPHA:101943
- Rare tumor of gallbladder and extrahepatic biliary tract ORPHA:306633
- Carcinoma of gallbladder and extrahepatic biliary tract ORPHA:56044
- Cholangiocarcinoma ORPHA:70567
- Perihilar cholangiocarcinoma ORPHA:99978
- Adenocarcinoma of the gallbladder and extrahepatic biliary tract ORPHA:424991
- Squamous cell carcinoma of gallbladder and extrahepatic biliary tract ORPHA:424996
- Combined hepatocellular carcinoma and cholangiocarcinoma ORPHA:529852
- Gallbladder neuroendocrine tumor ORPHA:100086
- Rare tumor of liver and intrahepatic biliary tract ORPHA:306636
- Hepatoblastoma ORPHA:449
- Hepatic cystic hamartoma ORPHA:386
- Hepatocellular adenoma ORPHA:54272
- Undifferentiated embryonal sarcoma of the liver ORPHA:178315
- Rare malignant epithelial tumor of liver and intrahepatic biliary tract ORPHA:424933
- Primary hepatic neuroendocrine carcinoma ORPHA:100085
- Carcinoma of liver and intrahepatic biliary tract ORPHA:424936
- Combined hepatocellular carcinoma and cholangiocarcinoma ORPHA:529852
- Cholangiocarcinoma ORPHA:70567
- Hepatocellular carcinoma ORPHA:88673
- Fibrolamellar hepatocellular carcinoma ORPHA:401920
- Adenocarcinoma of the liver and intrahepatic biliary tract ORPHA:424943
- Undifferentiated carcinoma of liver and intrahepatic biliary tract ORPHA:424970
- Squamous cell carcinoma of liver and intrahepatic biliary tract ORPHA:424975
- Biliary cystadenocarcinoma ORPHA:424982
- Solitary necrotic nodule of the liver ORPHA:100035
- Liver adenomatosis ORPHA:566841
- Hyperbiliverdinemia ORPHA:276405
- Cholestasis-lymphedema syndrome ORPHA:1414
- Recurrent hepatitis C virus induced liver disease in liver transplant recipients ORPHA:90052
- Acute liver failure ORPHA:90062
- Hepatitis B reinfection following liver transplantation ORPHA:90073
- Hepatitis delta ORPHA:402823