SE-ATLAS

Galaktose-Epimerase-Mangel der Erythrozyten Noduläre regenerative Hyperplasie der Leber Refsum-Krankheit, infantile Form Xanthomatose, zerebrotendinöse Hepatitis, autoimmune Glykogenose Typ 1 Transiente infantile Hypertriglyceridämie und Hepatosteatose Hepatoportale Sklerose Zellweger-Syndrom Glykogenose Typ 4 Lungenfibrose - Leberhyperplasie - Knochenmarkhypoplasie Glykogenose Typ 6 Akutes infantiles Leberversagen durch Synthesedefekt mtDNA-kodierter Proteine Hämochromatose Typ 4 Reynolds-Syndrom Dubin-Johnson-Syndrom Glykogenose Typ 4, progressive hepatische Form Gallensäuresynthesedefekt mit Cholestase und Malabsorption FTH1-abhängige Eisenüberladung Cholelithiasis mit niedrigen Phospholipid-Spiegeln Schwangerschaftscholestase, intrahepatische Neonatale Ichthyose-sklerosierende Cholangitis-Syndrom Rotor-Syndrom Galaktose-Epimerase-Mangel, generalisierter Gallengangatresie Caroli-Krankheit Glykogenose Typ 4, nonprogressive hepatische Form Afrikanische Eisenüberladung Cholestase, benigne intrahepatische, rekurrente, Typ 1 Pseudotumor der Leber, inflammatorischer Glykogenose durch Leberphosphorylasekinasemangel Hämochromatose, HJV oder HAMP-assoziierte Cholestase, benigne intrahepatische, rekurrente, Typ 2 Gallensäuresynthesedefekt, kongenitaler, Typ 4 Crigler-Najjar-Syndrom Typ 2 Crigler-Najjar-Syndrom Typ 1 Transiente neonatale Hyperbilirubinämie, familiäre Form Galaktokinase-Mangel Galaktosämie, klassische Budd-Chiari-Syndrom Fistel, broncho-biliäre kongenitale Galaktose-Epimerase-Mangel Leberkrankheit, seltene Glykogenose durch Leber- und Muskel-Phosphorylasekinase-Mangel Glykogenose durch Glykogen-Branching-Enzym-Mangel, fatale perinatale neuromuskuläre Form Alagille-Syndrom durch Mikrodeletion 20p12 Biliäre Atresie-Milzfehlbildung-Syndrom Hereditäre infantile Zirrhose der nordamerikanischen Indianer Cholestase, intrahepatische, familiäre Form Gallensäuren-CoA-Ligase-Mangel - Amidierungs-Defekt Virushepatitis, fulminante Glykogenose durch Glykogen-Branching-Enzym-Mangel, kongenitale neuromuskuläre Form Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Idiopathic copper-associated cirrhosis Hepatic veno-occlusive disease-immunodeficiency syndrome Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib Alagille syndrome due to a JAG1 point mutation Alagille syndrome due to a NOTCH2 point mutation Primary sclerosing cholangitis Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form Primitive portal vein thrombosis Progressive familial intrahepatic cholestasis Neonatal hemochromatosis Cystic fibrosis Acute fatty liver of pregnancy Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form Fanconi-Bickel syndrome Neonatal adrenoleukodystrophy Mitochondrial DNA depletion syndrome, hepatocerebrorenal form Primary biliary cholangitis Cholestasis-lymphedema syndrome Rare vascular liver disease Alagille syndrome CADDS Rare metabolic liver disease Growth retardation-mild developmental delay-chronic hepatitis syndrome Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form Rare parenchymal liver disease Acute infantile liver failure-multisystemic involvement syndrome Congenital bile acid synthesis defect type 1 Rare biliary tract disease Steroid dehydrogenase deficiency-dental anomalies syndrome Congenital bile acid synthesis defect type 2 Alpha-1-antitrypsin deficiency Isolated polycystic liver disease Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 Hereditary fructose intolerance Congenital bile acid synthesis defect type 3 Progressive familial intrahepatic cholestasis type 3 Progressive familial intrahepatic cholestasis type 2 Solitary necrotic nodule of the liver Tyrosinemia type 1 Progressive familial intrahepatic cholestasis type 1 Familial hypercholanemia Crigler-Najjar syndrome Hepatic veno-occlusive disease Hyperbiliverdinemia TFR2-related hemochromatosis Galactosemia Benign recurrent intrahepatic cholestasis Rare hereditary hemochromatosis Cirrhotic cardiomyopathy Peroxisome biogenesis disorder Adult polyglucosan body disease Wilson disease Rare pulmonary hypertension Heritable pulmonary arterial hypertension Pulmonary arterial hypertension