Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentratio... |
OMIM:620010 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia |
OMIM:237550 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ... |
OMIM:619868 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:179700 |
Hypercholanemia, Familial, 2 |
|
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia |
OMIM:614164 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia |
OMIM:618660 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia |
OMIM:237800 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Crigler-Najjar Syndrome Type 1 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperlipidemia, Splenomegaly |
OMIM:214900 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Atrial septal defect, Hype... |
OMIM:620211 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Malaria |
|
Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Increased total iron binding capacity, Increased serum bile acid conc... |
OMIM:616278 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent... |
OMIM:615160 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Increased serum bile acid concentration |
OMIM:243300 |
Biliary Atresia, Extrahepatic |
|
Unconjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, P... |
ORPHA:79159 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Increased total bilirubin |
ORPHA:890 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Increased total bilirubin |
ORPHA:2924 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... |
OMIM:616860 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia, Steatorrhea |
OMIM:235555 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Abnorm... |
ORPHA:247598 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:619232 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Infantile Sialic Acid Storage Disease |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:269920 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Secundum atrial septal defect, Elevated circu... |
OMIM:614300 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Hypoglycemic seizures, Hyperbilirubinemia |
OMIM:609734 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Incr... |
ORPHA:766 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy |
ORPHA:35 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Spherocytosis, Type 4 |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:612653 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:3363 |
Harderoporphyria |
|
Splenomegaly, Increased circulating ferritin concentration, Neonatal hyperbilirubinemia, Hepatome... |
OMIM:618892 |
Lipoyltransferase 1 Deficiency |
|
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin |
OMIM:616299 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Neonatal hypoglycemia, Hypoglycemia, Hyperbilirubinemia |
OMIM:613986 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158057 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... |
OMIM:618528 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:605479 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Steatorrhea, Hypocholesterolemia |
OMIM:607765 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Hypoglycemia, Hyperammonemia |
ORPHA:6 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... |
OMIM:232400 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote... |
OMIM:617049 |
Spherocytosis, Type 1 |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:182900 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Spherocytosis, Type 2 |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:616649 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal serum bile acid concentration, Hyperbilirub... |
ORPHA:79303 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hypergalactosemia, Increas... |
OMIM:227810 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hyperuricemia, Fasting hypoglycemia, Hyperalaninemia, Neonatal hyperb... |
ORPHA:348 |
Hijazi-Reis Syndrome |
|
Hyperbilirubinemia |
OMIM:301094 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:235700 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Increased total bilirubin |
ORPHA:90037 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:619662 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Hyperammonemia, Hypoalb... |
ORPHA:1667 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
ORPHA:234 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Hepatomegaly, Ventricular septal defect, Conjugated hyperbilirubinemia, Glycosuria, Right ventric... |
OMIM:613404 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hepatomegaly, Hyperbilirubinemia |
OMIM:214950 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Nonketotic hypoglycemia, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... |
OMIM:608836 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Hypoglycemia, Hyperuricemia |
OMIM:261750 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia |
OMIM:616689 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia, Hyperbilirubinemia |
OMIM:619075 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly |
OMIM:601847 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemi... |
OMIM:617156 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, H... |
OMIM:251880 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:79302 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia, Steatorrhea |
OMIM:613812 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Hepatomegaly |
OMIM:266150 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia |
ORPHA:73272 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirub... |
OMIM:613280 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly |
OMIM:211600 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia |
OMIM:185000 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Hepatomegaly, Hyperglutamatemia, Hypoglycemia, Hypera... |
ORPHA:3008 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Atrial septal defect, Elevated circulating long chain fatty acid concentration, Double outlet rig... |
OMIM:614886 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Hypoalbuminemia, Hyperbilirubinemia |
OMIM:613070 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Hepatomegaly, Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Fasting hypoglycemia |
OMIM:613027 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Recurrent hypoglycemia |
OMIM:607398 |
Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Unconjugated hyperbilirubinemia, Hyperbilirubinem... |
OMIM:613673 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
OMIM:619685 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S... |
OMIM:603553 |
Glycogen Storage Disease Vii |
|
Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin |
OMIM:232800 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
Hepatoportal Sclerosis |
|
Splenomegaly, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoglycemia, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia |
OMIM:617093 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia |
ORPHA:713 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Conjugated hyperbilirubinemia, Atrial septal defect, Patent foramen ov... |
OMIM:208085 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... |
OMIM:262190 |
Hereditary Elliptocytosis |
|
Splenomegaly, Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegaly, Decreased LDL cholesterol co... |
ORPHA:14 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
Dehydrated Hereditary Stomatocytosis |
|
Splenomegaly, Increased circulating ferritin concentration, Abnormal blood potassium concentratio... |
ORPHA:3202 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia |
OMIM:224120 |
Hereditary Spherocytosis |
|
Splenomegaly, Hepatomegaly, Restrictive cardiomyopathy, Hyperbilirubinemia |
ORPHA:822 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperbilirubinemi... |
OMIM:611881 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin |
ORPHA:90036 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilir... |
OMIM:300908 |
Distal Xq28 Microduplication Syndrome |
|
Patent foramen ovale, Neonatal hyperbilirubinemia |
ORPHA:293939 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Hypoglycemia, Low plasma citrulline, Fasting hypoglycemia, Impaired gluconeogenesis |
OMIM:261680 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Increased circulating very long-chain fatty acid con... |
OMIM:614887 |
Relapsing Fever |
|
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... |
ORPHA:91547 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbilirubinemia, Hypoph... |
OMIM:229600 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal circulating fatty-acid concentration, Hyper... |
ORPHA:567983 |
Cystic Echinococcosis |
|
Hepatomegaly, Hyperbilirubinemia, Abnormal heart morphology |
ORPHA:400 |
Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy, Hypoglycemia, Hyperammonemia |
OMIM:616483 |
Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
ORPHA:69665 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:71275 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Wilson Disease |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, Hypo... |
OMIM:277900 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Graft Versus Host Disease |
|
Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:39812 |
Pearson Marrow-Pancreas Syndrome |
|
Type I diabetes mellitus, Hepatomegaly, Hyperbilirubinemia, Steatorrhea |
OMIM:557000 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Steatorrhea |
OMIM:613471 |
Autoimmune Hepatitis |
|
Splenomegaly, Increased total bilirubin |
ORPHA:2137 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperkalemia, Splenomegaly |
OMIM:608885 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Dextrocardia, Conjugated hyperbilirubinemia, Mitral valve p... |
OMIM:620305 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Diabetes mellitus, Hypouricemia, Hypoglycemia, Glycosuria, Hypophosphatemia |
OMIM:616026 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Ventricular septal defect, Conjugated hyperbilirubinemia, Splenomegaly, Elevated ci... |
OMIM:614866 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Xanthelasma, Splenomegaly |
ORPHA:30391 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoorni... |
OMIM:615751 |
Liver Disease, Severe Congenital |
|
Hyponatremia, Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Elevated circulat... |
OMIM:619991 |
Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Fumarase Deficiency |
|
Perimembranous ventricular septal defect, Hyperbilirubinemia |
OMIM:606812 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hypertrophic cardiomyopathy, Hyperbilirubinemia, Abnormal heart morphology |
ORPHA:464321 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
Lathosterolosis |
|
Abnormal circulating cholesterol concentration, Elevated circulating lathosterol concentration, H... |
OMIM:607330 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... |
OMIM:618278 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypocalcemia, Hyperbilirubinemia |
ORPHA:163979 |
Caroli Disease |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Abnormal circulating alpha-fetoprotein concentration... |
ORPHA:53035 |
Caroli Syndrome |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia |
ORPHA:480520 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Splenomegaly, Hyperbilirubinemia, Atrial septal defect, Left ventricular hypertroph... |
OMIM:613610 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Double outlet right ventricle, Mitral stenosis, Tetralogy of Fallot, P... |
ORPHA:163956 |
Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hepatomegaly, Cor triatriatum, Ventricular septal defect, Dextrocardia, Conjugated hyperbilirubin... |
OMIM:619534 |
Primary Biliary Cholangitis |
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Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
Hardikar Syndrome |
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Hepatomegaly, Ventricular septal defect, Splenomegaly, Partial anomalous pulmonary venous return,... |
OMIM:301068 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Conjugated hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:168577 |
Congenital Tricuspid Valve Dysplasia |
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Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Degcags Syndrome |
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Hepatomegaly, Ventricular septal defect, Hepatosplenomegaly, Hyperbilirubinemia, Pulmonic stenosi... |
OMIM:619488 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Ventricular septal defect, Bicuspid aortic valve, Hyperbilirubinemia |
OMIM:619475 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir... |
ORPHA:90038 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Hyperbilirubinemia |
ORPHA:562639 |
Senior-Boichis Syndrome |
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Hepatosplenomegaly, Increased total bilirubin |
ORPHA:84081 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Hypoglycemia |
OMIM:613658 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Ventricular septal defect, Muscular ventricular septal defect, Hyperbilirubinemia, Atrial septal ... |
OMIM:210710 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Atrial septal defect, Patent foramen ovale, Unconjugated hyperbilirubinemia, Right ventricular hy... |
OMIM:620186 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Conjugated hyperbilirubinemia |
OMIM:208500 |
Congenital Erythropoietic Porphyria |
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Abnormal circulating porphyrin concentration, Splenomegaly, Unconjugated hyperbilirubinemia, Incr... |
ORPHA:79277 |
Yellow Fever |
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Pancreatic hyperplasia, Elevated circulating creatinine concentration, Elevated circulating creat... |
ORPHA:99829 |
Paroxysmal Nocturnal Hemoglobinuria |
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Decreased serum iron, Increased blood urea nitrogen, Unconjugated hyperbilirubinemia, Glycosuria,... |
ORPHA:447 |
Congenital Disorder Of Glycosylation, Type Iim |
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Atrial septal defect, Neonatal hyperbilirubinemia |
OMIM:300896 |
Johanson-Blizzard Syndrome |
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Hepatomegaly, Diabetes mellitus, Ventricular septal defect, Increased VLDL cholesterol concentrat... |
OMIM:243800 |