Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
Hemoglobin D Disease |
|
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Reticulocytosis, Splenomegaly |
OMIM:179700 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate... |
OMIM:301083 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Anemia of inadequate production, Hyperbilirubinemia, Erythroid hyperplasia, Sple... |
OMIM:237800 |
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 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia, Reticulocytosis, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... |
ORPHA:766 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblasti... |
OMIM:601775 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hemolytic anemia, Splenomegaly |
OMIM:613978 |
Spherocytosis, Type 4 |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:612653 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... |
OMIM:603902 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
Spherocytosis, Type 2 |
|
Reticulocytosis, Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:616649 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... |
OMIM:616689 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration |
OMIM:619874 |
Malaria |
|
Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia |
ORPHA:673 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:300448 |
Spherocytosis, Type 1 |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly |
OMIM:182900 |
Hemoglobin E Disease |
|
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... |
ORPHA:2133 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Thrombocytopenia, Splenomegaly, Anemia |
ORPHA:231393 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Splenomegaly, Conjugated hyperbiliru... |
OMIM:620010 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Reticulocytosis, Normocytic anemia, Hyperbilirubinemia, Normochromic anemia, Nonspherocytic hemol... |
OMIM:235700 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Anemia, Decreased mean corpuscular volume, Hypochromia, Siderobl... |
OMIM:205950 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Conjuga... |
OMIM:616860 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, A... |
OMIM:613673 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:3111 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Dehydrated Hereditary Stomatocytosis |
|
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... |
ORPHA:3202 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration, Increased t... |
OMIM:619868 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Anemia of inadequate production, Hyp... |
OMIM:224120 |
Sickle Cell Anemia |
|
Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased total iron binding capacity, Inc... |
ORPHA:98870 |
Hereditary Elliptocytosis |
|
Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Hyperbilirubi... |
ORPHA:288 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Iron deficiency anemia, Increased to... |
OMIM:616278 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Overhydrated Hereditary Stomatocytosis |
|
Reticulocytosis, Hemolytic anemia, Increased mean corpuscular volume, Hyperbilirubinemia, Stomato... |
OMIM:185000 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Fava bean-induced hemolytic anemia, Anisocytosis, Heinz bodies, Leukocytosis, Reticulocytosis, Un... |
OMIM:300908 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Reduced haptoglobin level, Reticulocytosis, Decreased hem... |
OMIM:266200 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Abnormal hemoglobin, Thrombocytopenia, Anemia |
ORPHA:3319 |
Harderoporphyria |
|
Reticulocytosis, Hemolytic anemia, Increased circulating ferritin concentration, Neonatal hyperbi... |
OMIM:618892 |
Rh Deficiency Syndrome |
|
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, H... |
ORPHA:71275 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... |
OMIM:605814 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... |
ORPHA:158057 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... |
ORPHA:251380 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Reticulocytosis, Hyperbilirubinemia, Hemolytic anemia |
ORPHA:713 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Splenomegaly |
ORPHA:846 |
Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis, Elevated circulating hepcidin concen... |
OMIM:206200 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Decreased mean corpuscular volume, Hypochromia, Increased serum iron, Erythroid hyperplas... |
OMIM:206100 |
Biliary Atresia, Extrahepatic |
|
Hyperbilirubinemia, Unconjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Increased serum bile acid concentration, Conjugated hyperbilirubinemia |
OMIM:243300 |
Glycogen Storage Disease Vii |
|
Reticulocytosis, Hyperuricemia, Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate conc... |
OMIM:232800 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:214900 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... |
ORPHA:247598 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia |
ORPHA:231401 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin |
ORPHA:90037 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin |
ORPHA:890 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin |
ORPHA:2924 |
Hereditary Spherocytosis |
|
Reticulocytosis, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin concentratio... |
ORPHA:822 |
Lipoyltransferase 1 Deficiency |
|
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin |
OMIM:616299 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia |
OMIM:619232 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis, Anemia, H... |
OMIM:267700 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Eleva... |
OMIM:614300 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated circulati... |
ORPHA:91547 |
Infantile Sialic Acid Storage Disease |
|
Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:269920 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Normocytic anemia, Anemia, Elevated circulating creatine kinase concen... |
OMIM:611881 |
Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Increased total iron binding capacity, Polycythemia, Hypermangan... |
OMIM:613280 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hyperbilirubinemia, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypoalbumi... |
ORPHA:64743 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin |
OMIM:618528 |
Neurodevelopmental Disorder With Gait Disturbance, Dysmorphic Facies, And Behavioral Abnormalities, X-Linked |
|
Hyperbilirubinemia |
OMIM:301094 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:235555 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia, Thrombocytopenia, Abnormality of iron homeostasis... |
ORPHA:848 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90036 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia |
OMIM:605479 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hyperbilirubinemia, Abnormal serum bile acid concentration, Extramedullary hematopoiesis, Conjuga... |
ORPHA:79303 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... |
OMIM:300946 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Hemophagocytosis, Anemia, Hyponatremia, Increase... |
OMIM:603553 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:79302 |
Wolcott-Rallison Syndrome |
|
Hyperammonemia, Hyperbilirubinemia, Lymphocytosis, Hypoalbuminemia, Iron deficiency anemia, Hypon... |
ORPHA:1667 |
Bone Marrow Failure Syndrome 6 |
|
Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529799 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia, Decreased serum bile acid concentration |
OMIM:214950 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia |
ORPHA:95715 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
ORPHA:234 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:601847 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated circulating alpha-fetoprotein concentration, Hyperammonemia, Conjugated hyperbilirubinemia |
OMIM:617049 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:211600 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hyperbilirubinemia, Throm... |
OMIM:259720 |
Pearson Marrow-Pancreas Syndrome |
|
Refractory sideroblastic anemia, Anemia, Reticulocytopenia, Hypoplastic anemia, Hyperbilirubinemi... |
OMIM:557000 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:607765 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... |
OMIM:619662 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hypoalbuminemia |
OMIM:613070 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:618278 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated circulating alpha-fetoprotein concentration, Hyperbilirubinemia, Thrombocytopenia, Splen... |
OMIM:251880 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hemolytic anemia, Conjugated hyperbilirubinemia, Hyperkalemia, Stomatocytosis, Splenomegaly |
OMIM:608885 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypermethioninemia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Hypoalbu... |
OMIM:617156 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration |
OMIM:614886 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Leukocytosis, Microangiopathic hemolytic anemia, Reticulocytosis, Hypokalemia, Unconjugated hyper... |
ORPHA:90038 |
Fanconi-Bickel Syndrome |
|
Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hypokalemia, Increased serum bile acid concent... |
OMIM:227810 |
Abetalipoproteinemia |
|
Reticulocytosis, Anemia, Decreased LDL cholesterol concentration, Acanthocytosis, Hyperbilirubine... |
ORPHA:14 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hyperbilirubinemia, Splenomegaly |
OMIM:613812 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hyperbilirubinemia, Elevated circulating creatinine concentration |
ORPHA:542323 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Lathosterolosis |
|
Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Hyperbilirubinemia, Abnormal circulating... |
OMIM:607330 |
Pyruvate Carboxylase Deficiency |
|
Hyperglutamatemia, Hyperammonemia, Hyperalaninemia, Elevated plasma citrulline, Increased serum p... |
ORPHA:3008 |
Intrahepatic Cholestasis Of Pregnancy |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
ORPHA:69665 |
Beta-Thalassemia Intermedia |
|
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... |
ORPHA:231222 |
Hepatocellular Carcinoma |
|
Polycythemia, Anemia, Hypokalemia, Hyperbilirubinemia, Thrombocytopenia, Thrombocytosis, Hyponatr... |
ORPHA:88673 |
Wilson Disease |
|
Hemolytic anemia, Anemia, Hypouricemia, Increased circulating copper concentration, Hyperbilirubi... |
OMIM:277900 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hyperammonemia, Decreased plasma free carnitine, Elevated circulating long chain fatty acid conce... |
OMIM:608836 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia |
ORPHA:73272 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Thrombocytopenia, Conjugated hyperbilirubinemia |
OMIM:208085 |
Graft Versus Host Disease |
|
Hepatosplenomegaly, Hyperbilirubinemia, Hemophagocytosis |
ORPHA:39812 |
Cystic Echinococcosis |
|
Hyperbilirubinemia, Splenic cyst, Eosinophilia |
ORPHA:400 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Reticulocytosis, Leukopenia, Hemolytic anemia, Anemia, Increased blood... |
ORPHA:447 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Hepatosplenomegaly, Stomatocytosis, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia |
ORPHA:168577 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia |
OMIM:613404 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia |
ORPHA:348 |
Distal Xq28 Microduplication Syndrome |
|
Neonatal hyperbilirubinemia |
ORPHA:293939 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia, Hypoalbuminemia |
OMIM:617093 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia |
OMIM:614887 |
Congenital Erythropoietic Porphyria |
|
Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Leukopenia, Hemolytic anemia, Abnormal ... |
ORPHA:79277 |
Caroli Syndrome |
|
Leukocytosis, Leukopenia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Hypersplenism, Throm... |
ORPHA:480520 |
Fumarase Deficiency |
|
Hyperbilirubinemia, Polycythemia |
OMIM:606812 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Autoimmune Hepatitis |
|
Splenomegaly, Increased total bilirubin |
ORPHA:2137 |
Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperbilirubinemia, Thrombocytopenia, Hypocalcemia, Anemia |
ORPHA:163979 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Dominant Beta-Thalassemia |
|
Hepatosplenomegaly, Anisocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular volume... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Hepatosplenomegaly, Anisopoikilocytosis, Extramedullary hematopoiesis, Decreased mean corpuscular... |
ORPHA:231214 |
Parenteral Nutrition-Associated Cholestasis |
|
Hyperlipidemia, Abnormal circulating fatty-acid concentration, Splenomegaly, Conjugated hyperbili... |
ORPHA:567983 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hyperbilirubinemia, Thrombocytopenia |
ORPHA:464321 |
Caroli Disease |
|
Abnormal circulating alpha-fetoprotein concentration, Leukocytosis, Splenomegaly, Conjugated hype... |
ORPHA:53035 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level |
ORPHA:90673 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatosplenomegaly, Elevated circulating phytanic acid concentration, Increased circulating very ... |
OMIM:614866 |
Reynolds Syndrome |
|
Hyperbilirubinemia, Lymphopenia, Calcinosis, Splenomegaly |
OMIM:613471 |
Mirizzi Syndrome |
|
Hyperbilirubinemia |
ORPHA:521219 |
Senior-Boichis Syndrome |
|
Hepatosplenomegaly, Increased total bilirubin, Anemia |
ORPHA:84081 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia |
ORPHA:186 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Ogden Syndrome |
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Iron deficiency anemia, Thrombocytopenia, Polycythemia, Hyperbilirubinemia |
OMIM:300855 |
Degcags Syndrome |
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Hepatosplenomegaly, Leukopenia, Abnormal spleen morphology, Anemia, Hyperbilirubinemia, Pancytope... |
OMIM:619488 |
Liver Disease, Severe Congenital |
|
Hypoproteinemia, Hyperammonemia, Leukopenia, Anemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619991 |
Isolated Biliary Atresia |
|
Splenomegaly, Conjugated hyperbilirubinemia |
ORPHA:30391 |
Fructose Intolerance, Hereditary |
|
Hyperbilirubinemia, Bicarbonaturia, Hyperuricemia, Hypophosphatemia |
OMIM:229600 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Hyperbilirubinemia |
ORPHA:562639 |
Cranioectodermal Dysplasia 2 |
|
Hyperbilirubinemia, Splenomegaly, Polysplenia |
OMIM:613610 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Elevated amniotic fluid alpha-fetoprotein |
ORPHA:423479 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hyperbilirubinemia, Increased circulating thyroglobulin level |
OMIM:218700 |
Yellow Fever |
|
Leukocytosis, Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Thrombocyto... |
ORPHA:99829 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Anemia, Unconjugated hyperbilirubinemia, Hypocalcemia, Pancytopenia, Hypoalbuminemia |
OMIM:613658 |
X-Linked Intellectual Disability, Nascimento Type |
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Neonatal hyperbilirubinemia, Neutropenia |
ORPHA:163956 |
Hardikar Syndrome |
|
Hepatosplenomegaly, Hyperbilirubinemia, Hypersplenism, Thrombocytopenia, Splenomegaly |
OMIM:301068 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Hyperbilirubinemia |
OMIM:619475 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Bone Marrow Failure Syndrome 3 |
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Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Increased mean corpuscular vol... |
OMIM:617052 |
Lead Poisoning |
|
Increased LDL cholesterol concentration, Anemia, Decreased HDL cholesterol concentration, Imbalan... |
ORPHA:330015 |
Shwachman-Diamond Syndrome 1 |
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Anemia, Persistence of hemoglobin F, Neutropenia, Thrombocytopenia, Pancytopenia, Acute myeloid l... |
OMIM:260400 |
Diamond-Blackfan Anemia |
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Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... |
ORPHA:124 |
Thymoma |
|
Imbalanced hemoglobin synthesis, Leukemia, Aplastic anemia, Pure red cell aplasia |
ORPHA:99867 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Conjugated hyperbilirubinemia |
OMIM:208500 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hyperbilirubinemia |
OMIM:210710 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Unconjugated hyperbilirubinemia, Aplasia of the thymus |
OMIM:620186 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperbilirubinemia, Hypoalbuminemia, Increased circu... |
OMIM:619534 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:301040 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Neonatal hyperbilirubinemia |
OMIM:300896 |
Johanson-Blizzard Syndrome |
|
Increased VLDL cholesterol concentration, Hypocalcemia, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:243800 |