Creative Commons Attribution 4.0 International CC-BY-4.0 https://creativecommons.org/licenses/by/4.0/legalcode 162651 Orphanet classification of rare hepatic diseases 57146 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57146 Rare hepatic disease Category 2312 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2312 Transient familial neonatal hyperbilirubinemia Disease 101938 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101938 Rare vascular liver disease Category 774 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=774 Hereditary hemorrhagic telangiectasia Disease 480524 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480524 Idiopathic peliosis hepatis Disease 95507 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95507 Congenital anomaly of hepatic vein Morphological anomaly 480531 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480531 Congenital portosystemic shunt Morphological anomaly 131 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=131 Budd-Chiari syndrome Disease 890 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=890 Hepatic veno-occlusive disease Disease 854 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=854 Non-malignant and non-cirrhotic portal vein thrombosis Clinical syndrome 79124 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79124 Hepatic veno-occlusive disease-immunodeficiency syndrome Disease 693846 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=693846 Hepatic arteriovenous malformation Malformation syndrome 694228 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=694228 Congenital intrahepatic arterioportal fistula Malformation syndrome 699068 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699068 Fontan-associated liver disease Disease 596937 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596937 Portosinusoidal vascular disease Disease 596941 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=596941 Incomplete septal cirrhosis Histopathological subtype 48372 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=48372 Nodular regenerative hyperplasia of the liver Histopathological subtype 64743 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=64743 Hepatoportal sclerosis Histopathological subtype 101939 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101939 Rare parenchymal liver disease Category 2137 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2137 Autoimmune hepatitis Disease 563576 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563576 Autoimmune hepatitis type 1 Clinical subtype 563581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563581 Autoimmune hepatitis type 2 Clinical subtype 563589 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=563589 Seronegative autoimmune hepatitis Clinical subtype 2031 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome Malformation syndrome 35063 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=35063 Fulminant viral hepatitis Disease 84064 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064 Trichohepatoenteric syndrome Disease 90003 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90003 Inflammatory pseudotumor of the liver Disease 555434 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555434 Fibrohistiocytic inflammatory pseudotumor of the liver Clinical subtype 555437 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=555437 Lymphoplasmacytic inflammatory pseudotumor of the liver Clinical subtype 209919 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=209919 Idiopathic copper-associated cirrhosis Disease 210136 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome Disease 243367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243367 Acute fatty liver of pregnancy Disease 300293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300293 Transient infantile hypertriglyceridemia and hepatosteatosis Disease 370088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=370088 Acute infantile liver failure-multisystemic involvement syndrome Disease 391366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome Disease 397922 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397922 Ferro-cerebro-cutaneous syndrome Disease 731 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=731 Autosomal recessive polycystic kidney disease Disease 485426 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485426 Isolated congenital hepatic fibrosis Disease 3032 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3032 NPHP3-related Meckel-like syndrome Malformation syndrome 464724 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=464724 Fever-associated acute infantile liver failure syndrome Disease 466794 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome Disease 541423 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=541423 Growth delay-intellectual disability-hepatopathy syndrome Disease 440427 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency Disease 1454 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1454 Joubert syndrome with hepatic defect Disease 294415 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=294415 Renal-hepatic-pancreatic dysplasia Malformation syndrome 217371 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Disease 699068 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=699068 Fontan-associated liver disease Disease 562639 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome Disease 101940 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101940 Rare metabolic liver disease Category 618899 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618899 Acid sphingomyelinase deficiency Clinical group 77292 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77292 Infantile neurovisceral acid sphingomyelinase deficiency Disease 77293 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=77293 Chronic visceral acid sphingomyelinase deficiency Disease 618891 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=618891 Chronic neurovisceral acid sphingomyelinase deficiency Disease 366 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=366 Glycogen storage disease due to glycogen debranching enzyme deficiency Disease 79239 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79239 Classic galactosemia Disease 397922 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=397922 Ferro-cerebro-cutaneous syndrome Disease 69665 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69665 Intrahepatic cholestasis of pregnancy Disease 367 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=367 Glycogen storage disease due to glycogen branching enzyme deficiency Disease 206583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=206583 Adult polyglucosan body disease Clinical subtype 308621 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form Clinical subtype 308638 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form Clinical subtype 308655 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form Clinical subtype 308670 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form Clinical subtype 308684 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Clinical subtype 308698 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Clinical subtype 308712 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Clinical subtype 369 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369 Glycogen storage disease due to liver glycogen phosphorylase deficiency Disease 905 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=905 Wilson disease Disease 60 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=60 Alpha-1-antitrypsin deficiency Disease 205 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=205 Crigler-Najjar syndrome Disease 79234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79234 Crigler-Najjar syndrome type 1 Clinical subtype 79235 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79235 Crigler-Najjar syndrome type 2 Clinical subtype 79238 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79238 Galactose epimerase deficiency Disease 308473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308473 Erythrocyte galactose epimerase deficiency Clinical subtype 308487 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=308487 Generalized galactose epimerase deficiency Clinical subtype 446 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=446 Neonatal hemochromatosis Disease 469 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=469 Hereditary fructose intolerance Disease 364 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=364 Glycogen storage disease due to glucose-6-phosphatase deficiency Disease 79258 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Clinical subtype 79259 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Clinical subtype 234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=234 Dubin-Johnson syndrome Disease 3111 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3111 Rotor syndrome Disease 3196 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3196 Steroid dehydrogenase deficiency-dental anomalies syndrome Disease 882 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=882 Tyrosinemia type 1 Disease 2088 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2088 Fanconi-Bickel syndrome Disease 79189 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79189 Peroxisome biogenesis disorder Clinical group 912 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=912 Zellweger syndrome Disease 44 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44 Neonatal adrenoleukodystrophy Disease 772 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=772 Infantile Refsum disease Disease 79240 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency Disease 254871 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254871 Mitochondrial DNA depletion syndrome, hepatocerebral form Clinical group 279934 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency Disease 363534 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form Disease 255229 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=255229 Navajo neurohepatopathy Disease 1186 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1186 Infantile-onset spinocerebellar ataxia Disease 726 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=726 Alpers-Huttenlocher syndrome Disease 137681 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Disease 139507 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=139507 Dietary iron overload disease Disease 217371 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins Disease 220489 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=220489 Rare hereditary hemochromatosis Category 465508 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=465508 Symptomatic form of HFE-related hemochromatosis Disease 648569 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648569 Non-HFE-related hemochromatosis Clinical group 225123 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=225123 TFR2-related hemochromatosis Disease 647834 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=647834 SLC40A1-related hemochromatosis Disease 79230 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79230 HJV or HAMP-related hemochromatosis Disease 648581 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648581 Digenic hemochromatosis Disease 247790 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247790 FTH1-related iron overload Disease 264580 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=264580 Glycogen storage disease due to liver phosphorylase kinase deficiency Disease 284385 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284385 Familial intrahepatic cholestasis Category 172 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=172 Progressive familial intrahepatic cholestasis Disease 79304 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79304 Progressive familial intrahepatic cholestasis type 2 Clinical subtype 79305 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79305 Progressive familial intrahepatic cholestasis type 3 Clinical subtype 79306 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79306 Progressive familial intrahepatic cholestasis type 1 Clinical subtype 480483 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480483 Progressive familial intrahepatic cholestasis type 4 Clinical subtype 480491 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480491 MYO5B-related progressive familial intrahepatic cholestasis Clinical subtype 168583 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=168583 Hereditary North American Indian childhood cirrhosis Clinical subtype 480476 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480476 Progressive familial intrahepatic cholestasis type 5 Clinical subtype 65682 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=65682 Benign recurrent intrahepatic cholestasis Disease 99960 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99960 Benign recurrent intrahepatic cholestasis type 1 Clinical subtype 99961 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99961 Benign recurrent intrahepatic cholestasis type 2 Clinical subtype 163631 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=163631 Bile acid synthesis defect with cholestasis and malabsorption Category 909 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=909 Cerebrotendinous xanthomatosis Disease 485631 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=485631 Congenital bile acid synthesis defect Clinical group 79095 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79095 Congenital bile acid synthesis defect type 4 Disease 79302 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79302 Congenital bile acid synthesis defect type 3 Disease 79303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303 Congenital bile acid synthesis defect type 2 Disease 79301 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79301 Congenital bile acid synthesis defect type 1 Disease 238475 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=238475 Familial hypercholanemia Disease 276066 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276066 Bile acid CoA ligase deficiency and defective amidation Disease 309854 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome Disease 369942 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=369942 CADDS Disease 371157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=371157 Congenital disorder of glycosylation with hepatic involvement Category 79318 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79318 PMM2-CDG Disease 79319 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79319 MPI-CDG Disease 79325 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79325 ALG8-CDG Disease 79326 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79326 ALG2-CDG Disease 79328 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79328 ALG9-CDG Disease 79330 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79330 MOGS-CDG Disease 79332 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79332 B4GALT1-CDG Disease 244310 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244310 RFT1-CDG Disease 263501 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=263501 COG4-CDG Disease 300536 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300536 DDOST-CDG Disease 314667 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=314667 TMEM165-CDG Disease 319646 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=319646 PGM1-CDG Disease 324422 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=324422 ALG13-CDG Disease 329178 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy Disease 692790 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=692790 ATP6AP1-CDG Disease 275761 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=275761 Lysosomal acid lipase deficiency Disease 75233 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75233 Wolman disease Clinical subtype 75234 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=75234 Cholesteryl ester storage disease Clinical subtype 648562 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648562 Ferroportin disease Disease 659694 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659694 Hepatic porphyria Clinical group 95157 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95157 Acute hepatic porphyria Clinical group 100924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100924 Porphyria due to ALA dehydratase deficiency Disease 79273 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79273 Hereditary coproporphyria Disease 79276 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79276 Acute intermittent porphyria Disease 79473 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79473 Variegate porphyria Disease 659698 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=659698 Hepatic cutaneous porphyria Clinical group 101330 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101330 Porphyria cutanea tarda Disease 443057 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443057 Sporadic porphyria cutanea tarda Clinical subtype 443062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443062 Familial porphyria cutanea tarda Clinical subtype 53693 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53693 GRACILE syndrome Disease 254902 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=254902 Renal tubulopathy-encephalopathy-liver failure syndrome Disease 247585 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=247585 Citrullinemia type II Disease 101941 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101941 Rare biliary tract disease Category 567983 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567983 Parenteral nutrition-associated cholestasis Particular clinical situation in a disease or syndrome 662388 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=662388 Isolated gallbladder duplication Morphological anomaly 480520 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480520 Caroli syndrome Malformation syndrome 480512 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480512 Idiopathic ductopenia Disease 480506 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480506 Primary intrahepatic lithiasis Disease 480501 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480501 Choledochal cyst Morphological anomaly 447771 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447771 Sclerosing cholangitis Clinical group 59303 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=59303 Neonatal ichthyosis-sclerosing cholangitis syndrome Disease 480556 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=480556 Isolated neonatal sclerosing cholangitis Disease 171 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=171 Primary sclerosing cholangitis Disease 447764 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447764 IgG4-related sclerosing cholangitis Clinical subtype 447774 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=447774 Secondary sclerosing cholangitis Disease 562639 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome Disease 586 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=586 Cystic fibrosis Disease 2924 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2924 Isolated polycystic liver disease Malformation syndrome 52 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=52 Alagille syndrome Malformation syndrome 261600 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261600 Alagille syndrome due to 20p12 microdeletion Etiological subtype 261619 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261619 Alagille syndrome due to a JAG1 point mutation Etiological subtype 261629 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=261629 Alagille syndrome due to a NOTCH2 point mutation Etiological subtype 2040 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2040 Congenital respiratory-biliary fistula Morphological anomaly 186 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=186 Primary biliary cholangitis Disease 779 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=779 Reynolds syndrome Disease 498345 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498345 Biliary atresia and associated disorders Category 30391 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=30391 Isolated biliary atresia Morphological anomaly 498350 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=498350 Syndromic biliary atresia Clinical group 244283 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=244283 Biliary atresia with splenic malformation syndrome Malformation syndrome 293864 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome Malformation syndrome 53035 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=53035 Caroli disease Malformation syndrome 69663 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=69663 Low phospholipid-associated cholelithiasis Disease 300552 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=300552 Follicular cholangitis and pancreatitis Disease 440987 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=440987 Isolated agenesis of gallbladder Morphological anomaly 521219 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521219 Mirizzi syndrome Clinical syndrome 521432 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome Disease 2697 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2697 Arthrogryposis-renal dysfunction-cholestasis syndrome Malformation syndrome 101943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=101943 Rare hepatic and biliary tract tumor Category 306633 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306633 Rare tumor of gallbladder and extrahepatic biliary tract Category 56044 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=56044 Carcinoma of gallbladder and extrahepatic biliary tract Clinical group 70567 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70567 Cholangiocarcinoma Disease 99978 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99978 Perihilar cholangiocarcinoma Disease 424991 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract Disease 424996 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract Disease 529852 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529852 Combined hepatocellular carcinoma and cholangiocarcinoma Disease 100086 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100086 Gallbladder neuroendocrine tumor Disease 306636 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=306636 Rare tumor of liver and intrahepatic biliary tract Category 449 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=449 Hepatoblastoma Disease 386 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=386 Hepatic cystic hamartoma Disease 54272 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=54272 Hepatocellular adenoma Disease 178315 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=178315 Undifferentiated embryonal sarcoma of the liver Disease 424933 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424933 Rare malignant epithelial tumor of liver and intrahepatic biliary tract Category 100085 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100085 Primary hepatic neuroendocrine carcinoma Disease 424936 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424936 Carcinoma of liver and intrahepatic biliary tract Category 529852 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=529852 Combined hepatocellular carcinoma and cholangiocarcinoma Disease 70567 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=70567 Cholangiocarcinoma Disease 88673 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88673 Hepatocellular carcinoma Clinical group 33402 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=33402 Pediatric hepatocellular carcinoma Disease 210159 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=210159 Adult hepatocellular carcinoma Disease 401920 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=401920 Fibrolamellar hepatocellular carcinoma Disease 424943 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424943 Adenocarcinoma of the liver and intrahepatic biliary tract Disease 424970 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract Disease 424975 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424975 Squamous cell carcinoma of liver and intrahepatic biliary tract Disease 424982 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=424982 Biliary cystadenocarcinoma Disease 100035 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=100035 Solitary necrotic nodule of the liver Disease 566841 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=566841 Liver adenomatosis Disease 276405 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=276405 Hyperbiliverdinemia Disease 1414 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1414 Cholestasis-lymphedema syndrome Disease 90052 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90052 Recurrent hepatitis C virus induced liver disease in liver transplant recipients Particular clinical situation in a disease or syndrome 90062 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90062 Acute liver failure Clinical syndrome 90073 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=90073 Hepatitis B reinfection following liver transplantation Particular clinical situation in a disease or syndrome 402823 http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=402823 Hepatitis delta Disease