Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
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Hepatomegaly, Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
Hyperbilirubinemia, Transient Familial Neonatal |
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Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Jaundice, Familial Obstructive, Of Infancy |
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Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
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Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
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Conjugated hyperbilirubinemia |
OMIM:237550 |
Red Cell Phospholipid Defect With Hemolysis |
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Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
Crigler-Najjar Syndrome Type 1 |
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Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Memory impairment |
ORPHA:79234 |
Glutathione Peroxidase Deficiency |
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Neonatal hyperbilirubinemia |
OMIM:614164 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
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Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Conjugated hyperbilirubinemia, Increased serum bi... |
OMIM:620010 |
Hypercholanemia, Familial, 2 |
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Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
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Hyperbilirubinemia |
OMIM:618660 |
Hyperbilirubinemia, Rotor Type |
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Conjugated hyperbilirubinemia |
OMIM:237450 |
Dubin-Johnson Syndrome |
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Conjugated hyperbilirubinemia |
OMIM:237500 |
Crigler-Najjar Syndrome, Type I |
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Unconjugated hyperbilirubinemia |
OMIM:218800 |
Ethanolaminosis |
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Cardiomegaly |
OMIM:227150 |
Hyperbilirubinemia, Shunt, Primary |
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Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:237800 |
Malaria |
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Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Cognitive impairment |
ORPHA:673 |
Rotor Syndrome |
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Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Hepatomegaly, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbumin... |
OMIM:619868 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Cardiomyopathy, Dilated, 1I |
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Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Edinburgh Malformation Syndrome |
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Neonatal hyperbilirubinemia |
OMIM:129850 |
Gilbert Syndrome |
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Unconjugated hyperbilirubinemia |
OMIM:143500 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Increased total iron binding capacity, Increased ... |
OMIM:616278 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
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Conjugated hyperbilirubinemia, Hepatomegaly, Increased serum bile acid concentration |
OMIM:243300 |
Biliary Atresia, Extrahepatic |
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Increased total bilirubin, Hepatomegaly, Hyperbilirubinemia, Unconjugated hyperbilirubinemia |
OMIM:210500 |
Cholestasis-Lymphedema Syndrome |
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Conjugated hyperbilirubinemia, Hyperlipidemia, Hepatomegaly, Splenomegaly |
OMIM:214900 |
Isolated Polycystic Liver Disease |
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Increased total bilirubin, Hepatomegaly |
ORPHA:2924 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Hepatomegaly |
ORPHA:890 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
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Pulmonic stenosis, Atrial septal defect, Hypermethioninemia, Hyperbilirubinemia |
OMIM:614300 |
Bile Acid Conjugation Defect 1 |
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Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:619232 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
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Increased total bilirubin |
OMIM:174050 |
Spherocytosis, Type 4 |
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Hyperbilirubinemia, Splenomegaly |
OMIM:612653 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
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Increased total bilirubin, Hepatomegaly |
OMIM:618528 |
Overhydrated Hereditary Stomatocytosis |
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Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:185000 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Increased circulating ferritin concentration, Splenomegaly, Unconjugated hyperbilirubinemia, Incr... |
ORPHA:766 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Hepatomegaly, Splenome... |
OMIM:618892 |
Infantile Sialic Acid Storage Disease |
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Conjugated hyperbilirubinemia, Hepatomegaly, Cardiomegaly, Splenomegaly |
OMIM:269920 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Hyperbilirubinemia |
OMIM:609734 |
Megaloblastic Anemia, Folate-Responsive |
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Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Spherocytosis, Type 1 |
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Hyperbilirubinemia, Splenomegaly |
OMIM:182900 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
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Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:605479 |
Spherocytosis, Type 2 |
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Hyperbilirubinemia, Splenomegaly |
OMIM:616649 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hepatomegaly, Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulati... |
ORPHA:247598 |
Bile Acid Synthesis Defect, Congenital, 4 |
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Hepatomegaly, Hyperbilirubinemia |
OMIM:214950 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Con... |
OMIM:616860 |
Bile Acid Synthesis Defect, Congenital, 2 |
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Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:235555 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
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Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin |
OMIM:616299 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:235700 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:616689 |
Drug-Induced Autoimmune Hemolytic Anemia |
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Increased total bilirubin, Splenomegaly |
ORPHA:90037 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
ORPHA:158057 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
ORPHA:234 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Hypocholesterolemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:607765 |
Rh-Null, Regulator Type |
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Unconjugated hyperbilirubinemia |
OMIM:268150 |
Elliptocytosis 2 |
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Neonatal hyperbilirubinemia |
OMIM:130600 |
Hepatoportal Sclerosis |
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Cognitive impairment, Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly |
ORPHA:64743 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
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Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly |
OMIM:601847 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
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Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Conjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Abnormal serum bile acid concent... |
ORPHA:79303 |
Congenital Bile Acid Synthesis Defect Type 3 |
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Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:79302 |
Autosomal Dominant Spastic Paraplegia Type 29 |
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Hyperbilirubinemia |
ORPHA:101009 |
Hypermanganesemia With Dystonia 1 |
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Increased total iron binding capacity, Hypermanganesemia, Hepatomegaly, Unconjugated hyperbilirub... |
OMIM:613280 |
Glycogen Storage Disease Vii |
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Increased total bilirubin, Hyperuricemia |
OMIM:232800 |
Idiopathic Congenital Hypothyroidism |
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Neonatal hyperbilirubinemia |
ORPHA:95717 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Increa... |
OMIM:267700 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Splenomegaly |
OMIM:266200 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
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Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly |
OMIM:211600 |
Solute carrier family 4 (anion exchanger), member 1 |
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Hyperbilirubinemia, Splenomegaly |
OMIM:109270 |
Danon Disease |
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Myocardial fibrosis, Cognitive impairment, Myocardial necrosis, Elevated circulating creatine kin... |
OMIM:300257 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
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Hypoalbuminemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:251880 |
Liver Failure, Infantile, Transient |
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Hepatomegaly, Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
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Ventricular septal defect, Conjugated hyperbilirubinemia, Hepatomegaly, Right ventricular hypertr... |
OMIM:613404 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
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Double outlet right ventricle, Atrial septal defect, Hyperbilirubinemia, Elevated circulating lon... |
OMIM:614886 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
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Hyperalaninemia, Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Wolcott-Rallison Syndrome |
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Double outlet right ventricle, Hepatomegaly, Hyperbilirubinemia, Atrial septal defect, Hyperammon... |
ORPHA:1667 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Hepatomegaly, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hypercholesterolemia, In... |
OMIM:619662 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinem... |
OMIM:613673 |
Congenital Dyserythropoietic Anemia Type Iii |
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Increased total iron binding capacity, Hyperbilirubinemia, Increased serum iron |
ORPHA:98870 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
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Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating long chain fatty acid concentration, Hyperammonemia, Elevated ... |
OMIM:608836 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Hereditary Elliptocytosis |
|
Neonatal hyperbilirubinemia, Hyperbilirubinemia, Splenomegaly |
ORPHA:288 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
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Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect, Conjugated hyperb... |
OMIM:208085 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
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Hyperammonemia, Mental deterioration, Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiom... |
OMIM:619051 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
Dehydrated Hereditary Stomatocytosis |
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Increased circulating ferritin concentration, Splenomegaly, Abnormal blood potassium concentratio... |
ORPHA:3202 |
Familial Thyroid Dyshormonogenesis |
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Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95716 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia |
OMIM:617049 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Increased circulating ferritin concentration, Hepatomegaly, Hypoproteinemia, Splenomegaly, Hepato... |
OMIM:603553 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:224120 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Dilated cardiom... |
OMIM:600649 |
Hereditary Spherocytosis |
|
Restrictive cardiomyopathy, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
ORPHA:822 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia, Sple... |
OMIM:300908 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hepatomegaly, Hyperammonemia, Increased serum pyruvate, Hyperprolinemia, Hypertau... |
ORPHA:3008 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating creatine kinase concentratio... |
OMIM:611881 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Intrahepatic Cholestasis Of Pregnancy |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
ORPHA:69665 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Neonatal hyperbilirubinemia, Hyperalaninemia, Hepatomegaly, Hyperuricemia |
ORPHA:348 |
Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia, Patent foramen ovale |
ORPHA:293939 |
Rh Deficiency Syndrome |
|
Hepatosplenomegaly, Hyperbilirubinemia, Reduced haptoglobin level |
ORPHA:71275 |
Relapsing Fever |
|
Increased total bilirubin, Elevated circulating creatinine concentration, Elevated circulating C-... |
ORPHA:91547 |
Cystic Echinococcosis |
|
Hepatomegaly, Hyperbilirubinemia, Abnormal heart morphology |
ORPHA:400 |
Abetalipoproteinemia |
|
Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubinemia, Decreased HD... |
ORPHA:14 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia |
ORPHA:73272 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... |
OMIM:618052 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Wilson Disease |
|
Increased circulating copper concentration, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, High ... |
OMIM:277900 |
Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypoalbuminemia, Hypernatremia |
ORPHA:529799 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly |
OMIM:613471 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hypocalcemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly |
OMIM:259720 |
Fumarase Deficiency |
|
Hyperbilirubinemia |
OMIM:606812 |
Parenteral Nutrition-Associated Cholestasis |
|
Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Splenomegaly, Conjug... |
ORPHA:567983 |
Graft Versus Host Disease |
|
Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:39812 |
Autoimmune Hepatitis |
|
Increased total bilirubin, Splenomegaly |
ORPHA:2137 |
Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
Attrv122I Amyloidosis |
|
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... |
ORPHA:85451 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hypertrophic cardiomyopathy, Hyperbilirubinemia, Abnormal heart morphology |
ORPHA:464321 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinemia, Ventricular hypertrophy, Cardi... |
OMIM:618278 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Hypocalcemia, Atrial septal defect, Hyperbilirubinemia |
ORPHA:163979 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Hypocalcemia, Hepatomegaly, Atrial septal defect, H... |
OMIM:619991 |
Ogden Syndrome |
|
Bicuspid aortic valve, Secundum atrial septal defect, Atrial septal defect, Hyperbilirubinemia, E... |
OMIM:300855 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level |
ORPHA:90673 |
Caroli Syndrome |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia |
ORPHA:480520 |
Cranioectodermal Dysplasia 2 |
|
Atrial septal defect, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Left ventricular hypertroph... |
OMIM:613610 |
Caroli Disease |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly |
ORPHA:53035 |
Lathosterolosis |
|
Hepatosplenomegaly, Abnormal circulating cholesterol concentration, Hyperbilirubinemia |
OMIM:607330 |
Hepatocellular Carcinoma |
|
Hypokalemia, Hepatomegaly, Hyperbilirubinemia, Hypoalbuminemia, Hyponatremia, Hypercalcemia |
ORPHA:88673 |
X-Linked Intellectual Disability, Nascimento Type |
|
Mitral stenosis, Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, P... |
ORPHA:163956 |
Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Hepatomegaly, Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia |
OMIM:229600 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly |
ORPHA:30391 |
Congenital Tricuspid Valve Dysplasia |
|
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... |
ORPHA:555874 |
Primary Biliary Cholangitis |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Abnormal circulating lipid concentration |
ORPHA:186 |
Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Hyperbilirubinemia |
OMIM:557000 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Neonatal hyperbilirubinemia, Hypercholesterolemia, Abnormal circulating thyroglobulin level |
ORPHA:90674 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Increased circulating ferritin concentration, Secundum atrial septal defect, Hepatomegaly, Primum... |
OMIM:619534 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Hepatosplenomegaly, Conjugated hyperbilirubinemia |
ORPHA:168577 |
Hardikar Syndrome |
|
Atrial septal defect, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, Ventric... |
OMIM:301068 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ventricular septal defect, Bicuspid aortic valve, Hyperbilirubinemia, Cognitive impairment |
OMIM:619475 |
Degcags Syndrome |
|
Hepatomegaly, Atrial septal defect, Dysplastic pulmonary valve, Hyperbilirubinemia, Pulmonic sten... |
OMIM:619488 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia, Hyponatremia, Hyp... |
ORPHA:90038 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hyperbilirubinemia, Increased circulating thyroglobulin level |
OMIM:218700 |
Senior-Boichis Syndrome |
|
Increased total bilirubin, Hepatosplenomegaly |
ORPHA:84081 |
Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... |
ORPHA:1457 |
Congenital Erythropoietic Porphyria |
|
Splenomegaly, Increased erythrocyte protoporphyrin concentration, Abnormal circulating porphyrin ... |
ORPHA:79277 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia |
OMIM:208500 |
Yellow Fever |
|
Elevated circulating creatine kinase concentration, Pancreatic hyperplasia, Elevated circulating ... |
ORPHA:99829 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoalbuminemia |
OMIM:613658 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia, Atrial septal defect |
OMIM:300896 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decrea... |
ORPHA:447 |