Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Hepatomegaly, Anemia of inadequate pr... |
OMIM:237800 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Hyperbilirubinemia, Fava bean-induced hemolytic anemia |
OMIM:618660 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration, Hepatomegaly |
OMIM:619874 |
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, 12 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Hepatomegaly, Splenomegaly, Conjugat... |
OMIM:620010 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619256 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir... |
OMIM:601775 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
Neutrophilia, Hereditary |
|
Neutrophilia, Splenomegaly |
OMIM:162830 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hepatomegaly, Hypercholestero... |
OMIM:619868 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Hepatomegaly, Splenomegaly |
OMIM:185000 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Anemia, Thrombocytopenia, Hyperbilirubinemia |
ORPHA:673 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:182900 |
Rotor Syndrome |
|
Hyperbilirubinemia, Conjugated hyperbilirubinemia |
ORPHA:3111 |
Elliptocytosis 2 |
|
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Increased total iron binding capacity, Hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:616278 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... |
OMIM:616860 |
Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Hyperbilirubinemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenome... |
OMIM:235700 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Specific Granule Deficiency 1 |
|
Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac... |
OMIM:245480 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy, Elevated circulating creatine kinase concentration |
OMIM:604765 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... |
ORPHA:158057 |
Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Neonatal hyperbilirubinemia, Increased circulating ferritin co... |
OMIM:618892 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
Rh-Null, Regulator Type |
|
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia |
OMIM:214900 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hepatomegaly |
OMIM:243300 |
Biliary Atresia, Extrahepatic |
|
Increased total bilirubin, Hyperbilirubinemia, Unconjugated hyperbilirubinemia, Hepatomegaly |
OMIM:210500 |
Immunodeficiency 110 With Lymphoproliferation |
|
Neutropenia, Lymphopenia, Atrial septal defect |
OMIM:614868 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Hepatomegaly |
ORPHA:890 |
Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... |
ORPHA:3202 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosi... |
OMIM:266200 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... |
OMIM:300908 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
Isolated Polycystic Liver Disease |
|
Increased total bilirubin, Hepatomegaly |
ORPHA:2924 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, Neutropenia, B lymphocytopenia |
OMIM:613107 |
Sickle Cell Anemia |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of hemoglobin F, ... |
ORPHA:232 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... |
OMIM:232800 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neutropenia, Eosinophilia |
OMIM:257100 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:619232 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:269920 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Acute monocytic leukemia, Thrombocytosis, Eosinophilia, Monocytosis, Congenital agranuloc... |
OMIM:202700 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... |
ORPHA:288 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Poikilocytosis, Abnormal eryth... |
ORPHA:98870 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... |
ORPHA:247598 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Increased total bilirubin, Hepatomegaly |
OMIM:618528 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia, Splenomegaly |
ORPHA:90037 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... |
OMIM:267700 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hyperbilirubinemia, Splenomegaly, Hepatomegaly |
OMIM:235555 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... |
ORPHA:71275 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:605479 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin, Hyperprolinemia, Hyperglutaminemia |
OMIM:616299 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Lymphocytosis, Hyperbilirubinemia, Atrial septal defect, Hyperammo... |
ORPHA:1667 |
Relapsing Fever |
|
Increased total bilirubin, Leukopenia, Anemia, Neutrophilia, Elevated circulating C-reactive prot... |
ORPHA:91547 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri... |
ORPHA:822 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia, Polycy... |
OMIM:613280 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Hypermethioninemia, Secundum atrial septal defect, Hyperbilirubinemia, Elevated circulating creat... |
OMIM:614300 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Abnormal serum bile acid concentration, Hyperbilirubinemia, Hepatomegaly, Extramedullary hematopo... |
ORPHA:79303 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul... |
OMIM:603553 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hypersplenism, Hyperbilirubinemia, Thrombocytopenia, Splenomegaly, Hypoalbumi... |
ORPHA:64743 |
Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
X-Linked Severe Congenital Neutropenia |
|
Neutropenia, Monocytopenia |
ORPHA:86788 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
ORPHA:234 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Leukemia, Lymphocytosis, Pancytopenia, Autoimmune thrombocytopenia, Hepatomegal... |
OMIM:614470 |
Immunodeficiency 32B |
|
Anemia, Monocytopenia, Neutrophilia, Hepatomegaly, Eosinophilia, Impaired oxidative burst, Thromb... |
OMIM:226990 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hepatomegaly |
OMIM:601847 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:79302 |
Acquired Idiopathic Sideroblastic Anemia |
|
Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo... |
ORPHA:75564 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hyperbilirubinemia, Decreased serum bile acid concentration, Hepatomegaly |
OMIM:214950 |
Glycogen Storage Disease Xii |
|
Reduced haptoglobin level, Anemia, Normocytic anemia, Hyperbilirubinemia, Elevated circulating cr... |
OMIM:611881 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Cardiomegaly, Hyperalaninemia, Hyperprolinemia, Perimembranous ventricular septal defect |
OMIM:619170 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hepatomegaly |
OMIM:211600 |
Diamond-Blackfan Anemia 4 |
|
Reticulocytopenia, Erythroid hypoplasia, Atrial septal defect, Macrocytic anemia, Neutropenia |
OMIM:612527 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hypocholesterolemia, Conjugated hyperbilirubinemia, Splenomegaly, Hepatomegaly |
OMIM:607765 |
Cystic Echinococcosis |
|
Peritoneal abscess, Splenic cyst, Hyperbilirubinemia, Abnormal heart morphology, Hepatomegaly, Eo... |
ORPHA:400 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia... |
OMIM:619041 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia |
ORPHA:90036 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, He... |
OMIM:619662 |
Liver Failure, Infantile, Transient |
|
Hyperbilirubinemia, Hepatomegaly, Hypoalbuminemia |
OMIM:613070 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Thrombocytopenia, Right ve... |
OMIM:208085 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Hyperbilirubinemia, Elevated circulating long chain fatty acid con... |
OMIM:614886 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Conjugated hyperbilirubinemia, Right ventricular hypertrophy, Ventricular septal defect, Hepatome... |
OMIM:613404 |
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 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Retic... |
OMIM:618278 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Impaired neutrophil chemotaxis, Neutrophilia, Abnormally low T cell receptor excision circle leve... |
OMIM:608203 |
Osteopetrosis, Autosomal Recessive 5 |
|
Anemia, Hyperbilirubinemia, Extramedullary hematopoiesis, Hypocalcemia, Pancytopenia, Hepatosplen... |
OMIM:259720 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Anemia, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardiomyopat... |
OMIM:620135 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, Thrombocy... |
OMIM:251880 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hyperbilirubinemia, Splenomegaly, Hepatomegaly |
OMIM:613812 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:619685 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Increased total bilirubin, Decreased plasma free carnitine, Enlarged kidney, Dilated cardiomyopat... |
OMIM:608836 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Lymphopenia, Abnormal neutrophil count, Monocytosis, Neutropenia |
ORPHA:2688 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617243 |
Pearson Marrow-Pancreas Syndrome |
|
Anemia, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, Sideroblastic ane... |
OMIM:557000 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hyperammonemia, Conjugated hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
Immunodeficiency 14B, Autosomal Recessive |
|
B lymphocytopenia, Neutrophilia, Thrombocytosis, Leukocytosis, Monocytosis |
OMIM:619281 |
Abetalipoproteinemia |
|
Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Reticulocytosis, Abnormal ci... |
ORPHA:14 |
Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529799 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Hyperammonemia, Hepat... |
OMIM:600649 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Stomatocytosis, Hemolytic anemia, Hyperkalemia, Hepatomegaly, Splenomegaly, Conjugated hyperbilir... |
OMIM:608885 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbu... |
OMIM:617156 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly, Anemia, Elevated circulating creatine kinase concentration |
OMIM:618838 |
Caroli Syndrome |
|
Leukopenia, Liver abscess, Hypersplenism, Hyperbilirubinemia, Leukocytosis, Hepatomegaly, Thrombo... |
ORPHA:480520 |
Fumarase Deficiency |
|
Hyperbilirubinemia, Polycythemia |
OMIM:606812 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Neonatal hyperbilirubinemia, ... |
ORPHA:3008 |
Graft Versus Host Disease |
|
Hyperbilirubinemia, Hemophagocytosis, Hepatosplenomegaly |
ORPHA:39812 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia, Hepatomegaly |
ORPHA:348 |
Hepatocellular Carcinoma |
|
Anemia, Liver abscess, Hypokalemia, Hyperbilirubinemia, Polycythemia, Thrombocytosis, Hepatomegal... |
ORPHA:88673 |
Distal Xq28 Microduplication Syndrome |
|
Patent foramen ovale, Neonatal hyperbilirubinemia |
ORPHA:293939 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Reticulocytosis,... |
ORPHA:90038 |
Attrv122I Amyloidosis |
|
Anemia, Restrictive cardiomyopathy, Left ventricular hypertrophy, Increased circulating NT-proBNP... |
ORPHA:85451 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia, He... |
OMIM:614887 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Wilson Disease |
|
Anemia, Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Increased circulatin... |
OMIM:277900 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Hepatomegaly, Myeloproliferative disorder, Leukocytosis, Thrombocytope... |
ORPHA:3226 |
Intrahepatic Cholestasis Of Pregnancy |
|
Hyperbilirubinemia, Increased serum bile acid concentration |
ORPHA:69665 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia |
ORPHA:73272 |
Adult-Onset Still Disease |
|
Abnormal circulating lipid concentration, Neutrophilia, Pericarditis, Elevated circulating C-reac... |
ORPHA:829 |
Caroli Disease |
|
Liver abscess, Abnormal circulating alpha-fetoprotein concentration, Leukocytosis, Hepatomegaly, ... |
ORPHA:53035 |
Parenteral Nutrition-Associated Cholestasis |
|
Abnormal circulating fatty-acid concentration, Hyperlipidemia, Hepatomegaly, Splenomegaly, Conjug... |
ORPHA:567983 |
Lathosterolosis |
|
Abnormal circulating cholesterol concentration, Anisopoikilocytosis, Hyperbilirubinemia, Hepatosp... |
OMIM:607330 |
Reynolds Syndrome |
|
Calcinosis, Hyperbilirubinemia, Lymphopenia, Hepatomegaly, Splenomegaly |
OMIM:613471 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Hemophagocytosis, Elevated circulating C-reactive protein conce... |
OMIM:619644 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hypertrophic cardiomyopathy, Thrombocytopenia, Hyperbilirubinemia, Abnormal heart morphology |
ORPHA:464321 |
Autoimmune Hepatitis |
|
Increased total bilirubin, Splenomegaly |
ORPHA:2137 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Hyperbilirubinemia |
OMIM:613986 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Anemia, Ventricular septal defect, Hyperbilirubinemia, Hypocalcemia, Atrial septal defect, Thromb... |
ORPHA:163979 |
Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Elevated circulating alpha-fetoprotein concentration, Hepatomegaly, ... |
OMIM:619991 |
X-Linked Intellectual Disability, Nascimento Type |
|
Patent foramen ovale, Double outlet right ventricle, Ventricular septal defect, Neutropenia, Mitr... |
ORPHA:163956 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:168577 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... |
OMIM:300835 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Ventricular septal defect, Elevated circulating phytanic acid concentration, Increased circulatin... |
OMIM:614866 |
Ogden Syndrome |
|
Patent foramen ovale, Ventricular septal defect, Perimembranous ventricular septal defect, Bicusp... |
OMIM:300855 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphatic leukemia, C... |
ORPHA:98849 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Anemia, Brain abscess, Liver abscess, Neutrophilia, Elevated circulating C-reactive protein conce... |
ORPHA:54251 |
Congenital Erythropoietic Porphyria |
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Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an... |
ORPHA:79277 |
Mitchell-Riley Syndrome |
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Hyperbilirubinemia |
OMIM:615710 |
Lissencephaly Due To Lis1 Mutation |
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Neonatal hyperbilirubinemia |
ORPHA:95232 |
Yellow Fever |
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Pancreatic hyperplasia, Hyperbilirubinemia, Neutrophilia, Elevated circulating creatine kinase co... |
ORPHA:99829 |
Isolated Biliary Atresia |
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Conjugated hyperbilirubinemia, Splenomegaly, Hepatomegaly |
ORPHA:30391 |
Cranioectodermal Dysplasia 2 |
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Patent foramen ovale, Polysplenia, Hyperbilirubinemia, Left ventricular hypertrophy, Atrial septa... |
OMIM:613610 |
Paroxysmal Nocturnal Hemoglobinuria |
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Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,... |
ORPHA:447 |
Hardikar Syndrome |
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Patent foramen ovale, Ventricular septal defect, Hypersplenism, Hyperbilirubinemia, Atrial septal... |
OMIM:301068 |
Degcags Syndrome |
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Patent foramen ovale, Anemia, Leukopenia, Ventricular septal defect, Abnormal spleen morphology, ... |
OMIM:619488 |
Psoriasis 14, Pustular |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:614204 |
Sickle Cell Disease |
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Hemolytic anemia, Target cells, Splenic infarction, Increased red cell sickling tendency, Hepatom... |
OMIM:603903 |
Herpes Simplex Virus Encephalitis |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia |
ORPHA:1930 |
Fructose Intolerance, Hereditary |
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Hyperuricemia, Hypophosphatemia, Hyperbilirubinemia, Hepatomegaly, Bicarbonaturia |
OMIM:229600 |
Hypothyroidism Due To Tsh Receptor Mutations |
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Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Congenital Tricuspid Valve Dysplasia |
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Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Granuloma, Hyperbilirubinemia |
ORPHA:562639 |
Mirizzi Syndrome |
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Hyperbilirubinemia |
ORPHA:521219 |
Cryptogenic Organizing Pneumonia |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:1302 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hypercholesterolemia, Atrioventricular canal defect, Patent foramen ovale, Unbalanced atrioventri... |
OMIM:619534 |
Primary Biliary Cholangitis |
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Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia |
ORPHA:186 |
Senior-Boichis Syndrome |
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Increased total bilirubin, Anemia, Hepatosplenomegaly |
ORPHA:84081 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatomegaly, Splenomegaly, ... |
OMIM:612852 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Neutrophilia, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive prote... |
OMIM:617099 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Bicuspid aortic valve, Hyperbilirubinemia, Ventricular septal defect |
OMIM:619475 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Sweet Syndrome |
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Acute myeloid leukemia, Anemia, Sterile abscess, Chronic lymphatic leukemia, Neutrophilia, Dilate... |
ORPHA:3243 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Anemia, Unconjugated hyperbilirubinemia, Pancytopenia, Hypocalcemia, Hypoalbuminemia |
OMIM:613658 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Patent foramen ovale, Ventricular septal defect, Hyperbilirubinemia, Atrial septal defect, Muscul... |
OMIM:210710 |
Familial Mediterranean Fever |
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Neutrophilia, Pericarditis, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
OMIM:249100 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Conjugated hyperbilirubinemia |
OMIM:208500 |
Congenital Disorder Of Glycosylation, Type Iim |
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Neonatal hyperbilirubinemia, Atrial septal defect |
OMIM:300896 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Infantile Convulsions And Choreoathetosis |
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ORPHA:31709 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
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OMIM:619150 |