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
Primitive 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
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
57777
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=57777
Cirrhotic cardiomyopathy
Disease
84064
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=84064
Syndromic diarrhea
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
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
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
Porphyria variegata
Disease
95161
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95161
Chronic hepatic 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
95159
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=95159
Hepatoerythropoietic porphyria
Disease
79278
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79278
Autosomal erythropoietic protoporphyria
Disease
443197
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=443197
X-linked erythropoietic protoporphyria
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
648562
http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=648562
Ferroportin disease
Disease
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
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
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
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
Klatskin tumor
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