Glutathione Peroxidase Deficiency |
|
Heinz bodies, Compensated hemolytic anemia, Neonatal hyperbilirubinemia |
OMIM:614164 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Hyperbilirubinemia, Splenomegaly |
OMIM:179700 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Erythroid hyperplasia, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Anemia of... |
OMIM:237800 |
Crigler-Najjar Syndrome Type 2 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79235 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hypertrophic cardiomyopathy, Hepatomegaly, Erythroid hyperplasia, Anemia, Hyperbilirubinemia, Spl... |
OMIM:613673 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia |
OMIM:618660 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... |
OMIM:605814 |
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 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Megaloblastic Anemia, Folate-Responsive |
|
Hyperhomocystinemia, Schistocytosis, Episodic hemolytic anemia, Hyperbilirubinemia, Increased cir... |
OMIM:601775 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia |
OMIM:237450 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia |
OMIM:237500 |
Crigler-Najjar Syndrome, Type I |
|
Unconjugated hyperbilirubinemia |
OMIM:218800 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia |
OMIM:612653 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Hyperbiliru... |
OMIM:616689 |
Malaria |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia |
ORPHA:673 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Spherocytosis |
OMIM:616649 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185000 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia |
OMIM:129850 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Neutrophilia, Hereditary |
|
Neutrophilia, Hepatosplenomegaly |
OMIM:162830 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute lymphoblastic leukemia, Neutropenia, Anemia, Hyperbilirubinemia, Splenomegaly, Increased ci... |
ORPHA:158057 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Gilbert Syndrome |
|
Unconjugated hyperbilirubinemia |
OMIM:143500 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperlipidemia, Splenomegaly |
OMIM:214900 |
Crigler-Najjar Syndrome Type 1 |
|
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia |
ORPHA:79234 |
Spherocytosis, Type 1 |
|
Hyperbilirubinemia, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia |
OMIM:182900 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Iron deficiency anemia, Hyperbilirubinemia, Splenomegaly, Increased serum bile acid... |
OMIM:616278 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Erythroid hyperplasia, Anemia, Sp... |
OMIM:616860 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytos... |
OMIM:109270 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Hyperbilirubinemia, Splenomegaly, Nonspherocytic hemolyti... |
OMIM:235700 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Elliptocytosis 2 |
|
Reticulocytosis, Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia |
OMIM:130600 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Harderoporphyria |
|
Hepatomegaly, Neonatal hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concentra... |
OMIM:618892 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Absent neutrophil specific granules, Increased neutrophil mitochon... |
OMIM:245480 |
Cyclic Neutropenia |
|
Neutropenia, Cyclic neutropenia |
OMIM:162800 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... |
OMIM:300908 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Increased total bilirubin |
ORPHA:2924 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Increased serum bile acid concentration |
OMIM:243300 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Atrial septal defect, Hypermethioninemia, Hyperbilirubinemia, Pulmonic stenosis |
OMIM:614300 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Steatorrhea, Hyperbilirubinemia, Splenomegaly |
OMIM:235555 |
Rh-Null, Regulator Type |
|
Stomatocytosis, Hemolytic anemia, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Unconjugated hyperbilirubinemia, Increas... |
ORPHA:232 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Hyperbilirubinemia |
OMIM:613070 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Increased total bilirubin |
ORPHA:890 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypergalactosemia, Hyperammonemia, Hyperthreoninemia, Hepatosplenomegaly, Hypermethioninemia, Dec... |
ORPHA:247598 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly, Splenomegaly, Conjugated hyperbilirubinemia |
OMIM:269920 |
Hereditary Elliptocytosis |
|
Congenital hemolytic anemia, Neonatal hyperbilirubinemia, Stomatocytosis, Hyperbilirubinemia, Spl... |
ORPHA:288 |
Glycogen Storage Disease Vii |
|
Increased total bilirubin, Hyperuricemia, Reticulocytosis, Reduced erythrocyte 2,3-diphosphoglyce... |
OMIM:232800 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Atrial septal defect, Neutropenia, Lymphopenia |
OMIM:614868 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hepatomegaly, Leukopenia,... |
OMIM:267700 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia |
OMIM:619232 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin |
OMIM:174050 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Increased circulating ferritin concentration, Hy... |
OMIM:603552 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... |
ORPHA:98870 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... |
OMIM:615285 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Acute monocytic leu... |
OMIM:202700 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Increased total bilirubin |
OMIM:618528 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin, Splenomegaly |
ORPHA:90037 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Chronic hemolytic anemia, Unconjugated hyperbilirubinemia, Splenomegaly |
OMIM:266200 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Hypocholesterolemia, Hyperbilirubinemia, Splenomegaly, Steatorrhea |
OMIM:607765 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Neutropenia, Severe Congenital, X-Linked |
|
Neutropenia |
OMIM:300299 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Reduced haptoglobin level, Macrocytic anemia, Hypochromia, Stomatocytosis, Hype... |
ORPHA:71275 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Decreased hemoglobin concentration |
ORPHA:713 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Hepatomegaly, Abnormal serum bile acid concentration, Hyperbilirubinemia, Conjugated hyperbilirub... |
ORPHA:79303 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Anemia, Hyperbilirubinemia, Decreased osteoclast count, Splenomegaly, Extramedullar... |
OMIM:259720 |
Hereditary Spherocytosis |
|
Hepatomegaly, Restrictive cardiomyopathy, Anemia, Hyperbilirubinemia, Splenomegaly, Extramedullar... |
ORPHA:822 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypoproteinemia, Hepatomegaly, Leukopenia, Anemia, Increased total bilirubin, Splen... |
OMIM:603553 |
Relapsing Fever |
|
Leukocytosis, Leukopenia, Elevated circulating creatinine concentration, Anemia, Increased total ... |
ORPHA:91547 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Neutropenia, Iron deficiency anemia, Double outlet right ventricle, H... |
ORPHA:1667 |
Hypermanganesemia With Dystonia 1 |
|
Hepatomegaly, Unconjugated hyperbilirubinemia, Polycythemia, Hypermanganesemia, Increased total i... |
OMIM:613280 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatomegaly, Hyperbilirubinemia |
OMIM:214950 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia |
OMIM:605479 |
Lipoyltransferase 1 Deficiency |
|
Increased total bilirubin |
OMIM:616299 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Hepatoportal Sclerosis |
|
Leukopenia, Anemia, Hyperbilirubinemia, Splenomegaly, Hypersplenism, Hypoalbuminemia, Thrombocyto... |
ORPHA:64743 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia |
ORPHA:234 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Hypoalbuminemia |
ORPHA:88643 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Neutropenia, Monocytosis, Leukemia, Splenomegaly, Autoimmune thrombocytopenia, Lymp... |
OMIM:614470 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:601847 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatosplenomegaly, Hyperbilirubinemia |
ORPHA:79302 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia |
OMIM:251880 |
Acquired Idiopathic Sideroblastic Anemia |
|
Hepatomegaly, Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythro... |
ORPHA:75564 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Anemia, Decreased circulating c... |
OMIM:618838 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Right ventricular hypertrophy, Ventricular septal defect, Conjugated hyperbilirubinemia |
OMIM:613404 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, In... |
OMIM:619662 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia |
ORPHA:95715 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Double outlet right ventricle, Atrial septal defect, Hyperbilirubinemia, Elevated circulating lon... |
OMIM:614886 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
OMIM:211600 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia |
ORPHA:95717 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Right ventricular hypertrophy, Ventricular septal defect, Conjugated hyperbilirubinemia, Atrial s... |
OMIM:208085 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia |
ORPHA:101009 |
Cystic Echinococcosis |
|
Hepatomegaly, Splenic cyst, Peritoneal abscess, Abnormal heart morphology, Abscess, Hyperbilirubi... |
ORPHA:400 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Autoimmune hemolytic anemia |
ORPHA:90036 |
Felty Syndrome |
|
Neutropenia, Splenomegaly |
OMIM:134750 |
Abetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Abnor... |
ORPHA:14 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Immunodeficiency 21 |
|
Abnormal natural killer cell morphology, Neutropenia, Lymphopenia, Myeloid leukemia, Monocytopeni... |
OMIM:614172 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Erythroid hypoplasia, Atrial septal defect, Reticulocytopenia |
OMIM:612527 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Hepatomegaly, Decreased plasma free carnitine, Elevated circulating long ... |
OMIM:608836 |
Reynolds Syndrome |
|
Hepatomegaly, Calcinosis, Hyperbilirubinemia, Splenomegaly, Steatorrhea |
OMIM:613471 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperprolinemia, Perimembranous ventricular septal defect, Cardiomegaly, Hyperalaninemia |
OMIM:619170 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Elevated alpha-fetoprotein, Neutropenia |
OMIM:617243 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Chronic Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypoalbuminemia, Hemolytic anemia, Hypernatremia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Familial Thyroid Dyshormonogenesis |
|
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
Immunodeficiency 14B, Autosomal Recessive |
|
Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis, Neutrophilia |
OMIM:619281 |
Caroli Syndrome |
|
Hepatomegaly, Leukocytosis, Leukopenia, Hyperbilirubinemia, Hypersplenism, Conjugated hyperbiliru... |
ORPHA:480520 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Hyperlipidemia, Abnormal circulating fatty-acid concentration, Splenomegaly, Conjug... |
ORPHA:567983 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
Fumarase Deficiency |
|
Polycythemia, Hyperbilirubinemia |
OMIM:606812 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypernatremia, Neonatal hyperbilirubinemia, Increased level of L-glutamic acid in b... |
ORPHA:3008 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Hyperammonemia |
OMIM:617049 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated circulating creatinine concentration, Hyperbilirubinemia |
ORPHA:542323 |
Distal Xq28 Microduplication Syndrome |
|
Patent foramen ovale, Neonatal hyperbilirubinemia |
ORPHA:293939 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
ORPHA:69665 |
Graft Versus Host Disease |
|
Hepatosplenomegaly, Hemophagocytosis, Hyperbilirubinemia |
ORPHA:39812 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia |
ORPHA:348 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Leukocytosis, Unconjugated hyperbilirubinemia, Schistocytosis, Hypokalemia, Microan... |
ORPHA:90038 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiom... |
OMIM:600649 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia |
ORPHA:73272 |
Hepatocellular Carcinoma |
|
Hyponatremia, Hypercalcemia, Hepatomegaly, Thrombocytosis, Hypokalemia, Polycythemia, Anemia, Hyp... |
ORPHA:88673 |
Caroli Disease |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Conjugated hyperbilirubinemia, Liver abscess |
ORPHA:53035 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Neonatal hyperbilirubinemia |
OMIM:609727 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocyt... |
ORPHA:3226 |
Adult-Onset Still Disease |
|
Myocarditis, Hepatomegaly, Leukocytosis, Pericarditis, Abnormal circulating lipid concentration, ... |
ORPHA:829 |
Autoimmune Hepatitis |
|
Increased total bilirubin, Splenomegaly |
ORPHA:2137 |
Lathosterolosis |
|
Anisopoikilocytosis, Increased mean platelet volume, Schistocytosis, Abnormal circulating cholest... |
OMIM:607330 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Anemia, Hyperbilirubinemia, Atrial septal defect, Hypocalcemia, Thromb... |
ORPHA:163979 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Neutropenia, Neonatal hyperbilirubinemia, Recurrent cutaneous abscess ... |
ORPHA:163956 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Monocytosis, Neutrophilia, Hepatosplenomegaly, Thrombocytopenia, Elevated circulati... |
OMIM:619644 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Restrictive cardiomyopathy, Cardiomegaly, Anemi... |
ORPHA:85451 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Stomatocytosis, Hepatosplenomegaly, Conjugated hyperbilirubinemia, Spontaneous hemolytic crises |
ORPHA:168577 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart morphology, Hyperbilirubinemia, Thrombocytopenia |
ORPHA:464321 |
Mitchell-Riley Syndrome |
|
Hyperbilirubinemia |
OMIM:615710 |
Danon Disease |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concent... |
OMIM:300257 |
Isolated Biliary Atresia |
|
Xanthelasma, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly |
ORPHA:30391 |
Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, Sp... |
ORPHA:79277 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Polysplenia, Hyperbilirubinemia, Splenomegaly, Left ventricular hypertrophy, Atrial... |
OMIM:613610 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, C... |
ORPHA:98849 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia |
ORPHA:95232 |
Yellow Fever |
|
Leukocytosis, Elevated circulating creatine kinase concentration, Elevated circulating creatinine... |
ORPHA:99829 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Anemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Liver... |
ORPHA:54251 |
Fructose Intolerance, Hereditary |
|
Hepatomegaly, Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Hyperuricosuria, Bicarbonaturia |
OMIM:229600 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
Degcags Syndrome |
|
Hepatomegaly, Ventricular septal defect, Leukopenia, Iron deficiency anemia, Congenital hypoplast... |
OMIM:619488 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, An... |
ORPHA:447 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dextrocardia, Hepatomegaly, Primum atrial septal defect, Ventricular septal defect, Atrioventricu... |
OMIM:619534 |
Psoriasis 14, Pustular |
|
Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia |
OMIM:614204 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Granuloma, Hyperbilirubinemia |
ORPHA:562639 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Conjugated hyperbilirubinemia, Hypoalbuminemia |
ORPHA:186 |
Mirizzi Syndrome |
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Hyperbilirubinemia |
ORPHA:521219 |
Herpes Simplex Virus Encephalitis |
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Hyponatremia, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
ORPHA:1930 |
Hardikar Syndrome |
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Hepatomegaly, Ventricular septal defect, Hyperbilirubinemia, Splenomegaly, Hepatosplenomegaly, At... |
OMIM:301068 |
Senior-Boichis Syndrome |
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Hepatosplenomegaly, Anemia, Increased total bilirubin |
ORPHA:84081 |
Congenital Tricuspid Valve Dysplasia |
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Hepatomegaly, Pericardial effusion, Right ventricular hypertrophy, Cardiomegaly, Tricuspid valve ... |
ORPHA:555874 |
Cryptogenic Organizing Pneumonia |
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Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia |
ORPHA:1302 |
Sickle Cell Anemia |
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Hepatomegaly, Leukocytosis, Cardiomegaly, Splenomegaly, Increased red cell sickling tendency, Hem... |
OMIM:603903 |
Gaucher Disease, Type Iiic |
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Hepatomegaly, Mitral valve calcification, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... |
OMIM:231005 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
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Hepatomegaly, Abscess, Splenomegaly, Neutrophilia, Elevated circulating C-reactive protein concen... |
OMIM:612852 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Increased prop... |
OMIM:617099 |
Biliary Malformation With Renal Tubular Insufficiency |
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Conjugated hyperbilirubinemia |
OMIM:210550 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Bicuspid aortic valve, Ventricular septal defect, Hyperbilirubinemia |
OMIM:619475 |
Staphylococcal Necrotizing Pneumonia |
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Leukocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukopenia |
ORPHA:36238 |
Sweet Syndrome |
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Dilated cardiomyopathy, Leukocytosis, Chronic lymphatic leukemia, Sterile abscess, Anemia, Acute ... |
ORPHA:3243 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Hyperbilirubinemia |
OMIM:218700 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Hypoalbuminemia, Unconjugated hyperbilirubinemia, Anemia, Hypocalcemia, Pancytopenia |
OMIM:613658 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Conjugated hyperbilirubinemia |
OMIM:208500 |
Familial Mediterranean Fever |
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Hepatomegaly, Leukocytosis, Pericarditis, Elevated circulating amyloid A, Splenomegaly, Neutrophi... |
OMIM:249100 |
Heterotaxy, Visceral, 1, X-Linked |
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Dextrocardia, Ventricular septal defect, Asplenia, Mitral atresia, Double outlet right ventricle,... |
OMIM:306955 |
Aorta Coarctation |
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Bicuspid aortic valve, Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left vent... |
ORPHA:1457 |
Congenital Disorder Of Glycosylation, Type Iim |
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Atrial septal defect, Neonatal hyperbilirubinemia |
OMIM:300896 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Idiopathic Hypereosinophilic Syndrome |
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Dilated cardiomyopathy, Leukocytosis, Thrombocytosis, Myocardial eosinophilic infiltration, Anemi... |
ORPHA:3260 |
Hyper-Igd Syndrome |
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Leukocytosis, Hepatosplenomegaly, Neutrophilia, Splenomegaly |
OMIM:260920 |
Crimean-Congo Hemorrhagic Fever |
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Myocarditis, Hepatomegaly, Leukocytosis, Pericardial effusion, Leukopenia, Elevated circulating c... |
ORPHA:99827 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
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OMIM:619150 |
Infantile Convulsions And Choreoathetosis |
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ORPHA:31709 |