Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutrope... |
OMIM:615285 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neonatal death, Neutropenia |
OMIM:257100 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Hepatomegaly, Splenomegaly |
ORPHA:2274 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Hyp... |
ORPHA:848 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia |
OMIM:616022 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Kaposiform Lymphangiomatosis |
|
Lymphangioma, Bruising susceptibility, Splenomegaly, Abnormal bleeding, Abnormal spleen morpholog... |
ORPHA:464329 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Sickle Cell Anemia |
|
Cholelithiasis, Hepatomegaly, Leukocytosis, Splenomegaly, Hematuria, Hemolytic anemia, Target cel... |
OMIM:603903 |
Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Cholestasis, Cholecystitis, Elevated hepatic transaminase, Hepatic ... |
OMIM:600803 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... |
ORPHA:231222 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Epistaxis, Jaundice, Intrahepatic cholesta... |
OMIM:211600 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Elevated hepatic transaminase, Iron deficiency anemia |
OMIM:300752 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Leukocytosis, Splenomegaly, Cirrhosis, Cholesta... |
ORPHA:53035 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia |
OMIM:613501 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Green urine, Cholestasis |
OMIM:614156 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Neutropenia |
OMIM:615214 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hemoglobinuria, Increased red cell hemolysis by shear... |
OMIM:194380 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Benign Recurrent Intrahepatic Cholestasis |
|
Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... |
ORPHA:65682 |
Crimean-Congo Hemorrhagic Fever |
|
Melena, Hemoperitoneum, Neutrophilia, Hepatomegaly, Subdural hemorrhage, Hemothorax, Hepatic fail... |
ORPHA:99827 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Trimethylaminuria |
|
Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Atretic gallbladder, Extrahepatic biliary... |
OMIM:210500 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Abnormal bleeding, Cirrhosis, Biliary tract abnormality, Elevated hep... |
ORPHA:79301 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Exerc... |
OMIM:232800 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic an... |
OMIM:614470 |
Gcgr-Related Hyperglucagonemia |
|
Cholelithiasis, Abnormal biliary tract morphology, Neoplasm of the pancreas |
ORPHA:438274 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
Hypereosinophilic Syndrome, Idiopathic |
|
Hepatomegaly, Splenomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia... |
OMIM:607685 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:603552 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Cirrhosis, Microcytic anemia, Decreased liver function |
ORPHA:79278 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... |
ORPHA:822 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Telangiectasia of the skin, Hepatic failure, Subarachnoid hemorrhage, Hematuria, ... |
ORPHA:774 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Jaundice, Splenomegaly, Hepatic failure, Cirrhosis, Sclerosing cholangitis, Cholest... |
OMIM:617394 |
Cholestasis With Gallstone, Ataxia, And Visual Disturbance |
|
Cholelithiasis, Giant cell hepatitis, Jaundice |
OMIM:214980 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Anemia, Thrombocytopenia |
ORPHA:231393 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hemolytic anemia, Hepatic failure |
OMIM:177000 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... |
ORPHA:288 |
Mantle Cell Lymphoma |
|
Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Cholelithiasis, Hepatomegaly, Jaundice, Intrahepatic cholestasis |
OMIM:605479 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Folate Malabsorption, Hereditary |
|
Failure to thrive, Leukopenia, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Hepatic fibrosis, Hypogonad... |
OMIM:613313 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
3-Methylglutaconic aciduria, Splenomegaly |
OMIM:619813 |
Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Aortic valve stenosis, Atrial s... |
ORPHA:210122 |
Isolated Biliary Atresia |
|
Decreased liver function, Dark yellow urine, Hepatomegaly, Periportal fibrosis, Splenomegaly, Cir... |
ORPHA:30391 |
Gray Platelet Syndrome |
|
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Thrombocytopenia, Epistaxis |
ORPHA:721 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy, Atrial flutter, Atrial fibrillation, Hypogonadism, First degr... |
OMIM:160900 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
Immunodeficiency 21 |
|
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... |
OMIM:614172 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Choles... |
OMIM:620010 |
Immunodeficiency 104 |
|
Lymphadenopathy, Hepatomegaly, T lymphocytopenia, Splenomegaly |
OMIM:608971 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... |
ORPHA:882 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Lymphocytosis, Splenomegaly |
OMIM:606445 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transami... |
ORPHA:567983 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Cirrhosis, Elevated hepatic transaminase, Neutropenia, Anemia |
OMIM:604250 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Splenomegaly, Hemoglobinuria, Norm... |
OMIM:611881 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hepatomegaly, Splenomegaly |
OMIM:619175 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria,... |
OMIM:105200 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... |
OMIM:269600 |
Immunodeficiency 46 |
|
Failure to thrive, Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Sialuria |
|
Cholelithiasis, Hepatomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Prolonged prothr... |
ORPHA:3166 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Abnormality of the lymphatic system, Biliary tract abnorma... |
ORPHA:1414 |
Lujo Hemorrhagic Fever |
|
Lymphopenia, Excessive bleeding after a venipuncture, Leukocytosis, Leukopenia, Fulminant hepatit... |
ORPHA:319213 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Neutropenia, Severe Congenital, X-Linked |
|
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Hypog... |
OMIM:615234 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... |
OMIM:602347 |
Triosephosphate Isomerase Deficiency |
|
Cholelithiasis, Splenomegaly, Normocytic anemia, Macrocytic anemia, Cholecystitis, Hemolytic anem... |
OMIM:615512 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... |
OMIM:619313 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Mirizzi Syndrome |
|
Dark urine, Cholelithiasis, Pancreatitis, Jaundice, Tachycardia, Elevated hepatic transaminase, C... |
ORPHA:521219 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Splenomegaly, Galactosuria, Jaundice |
OMIM:230350 |
Encephalopathy Due To Prosaposin Deficiency |
|
Hepatomegaly, Splenomegaly |
ORPHA:139406 |
Immunodeficiency 84 |
|
Perianal abscess, B lymphocytopenia, Splenomegaly |
OMIM:619437 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Elevated hepatic transaminase, Exocrine pancreatic insufficiency, Neutropenia |
OMIM:618752 |
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive |
|
Purpura, Vitreous hemorrhage, Pulmonary embolism |
OMIM:612304 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Thrombocytopenia, Ventricular septal defect, Pericardial effusion, Bradycardia, H... |
OMIM:618775 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Cholelithiasis, Cholestatic liver disease, Giant cell hepatitis, Hematochezia, Elevated hepatic t... |
ORPHA:79095 |
Galactose Epimerase Deficiency |
|
Jaundice, Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:79238 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Microgastria-Limb Reduction Defects Association |
|
Type I truncus arteriosus, Secundum atrial septal defect, Bicornuate uterus, Unilateral renal age... |
OMIM:156810 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Primary Sclerosing Cholangitis |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Pancreatitis, Cholestasis, Chronic hepatic fail... |
ORPHA:171 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Arrhythmia, Dilated cardiom... |
OMIM:602390 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Megaloblastic anemia, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Splenomegaly, Increased urinary porphobilinogen, Elevated urinary delta-aminolevuli... |
OMIM:121300 |
Hemorrhagic Fever-Renal Syndrome |
|
Melena, Decreased glomerular filtration rate, Hematuria, Proteinuria, Decreased urine output, Pal... |
ORPHA:340 |
Marburg Hemorrhagic Fever |
|
Pancreatitis, Pericarditis, Reticulocytosis, Jaundice, Lymphadenopathy, Abnormal bleeding, Tachyc... |
ORPHA:99826 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia, ... |
ORPHA:100024 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Sandhoff Disease |
|
Hepatomegaly, Congestive heart failure, Splenomegaly |
ORPHA:796 |
Retinopathy Of Prematurity |
|
Vitreous hemorrhage |
ORPHA:90050 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Aminoaciduria, Splenomegaly |
ORPHA:417 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hepatocellular ... |
ORPHA:158057 |
Retinal Venous Beading |
|
Vitreous hemorrhage, Retinal neovascularization, Nephritis, Neutropenia |
OMIM:180080 |
Polycythemia Vera |
|
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... |
OMIM:263300 |
Retinal Capillary Malformation |
|
Vitreous hemorrhage, Hyphema |
ORPHA:71213 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Renal tubular dysfunction, Cholelithiasis, Double outlet right ventricle, Atrial septal defect, H... |
OMIM:614886 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Enlarged kidney, Hepatic cys... |
OMIM:208540 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Melena, Abnormality of the liver, Vitreous hemorrhage, Cerebral hemorrhage, Hematemesis, Hypertro... |
ORPHA:464321 |
Immunodeficiency 76 |
|
Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Lymphadenopathy |
OMIM:619164 |
Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic failure, Fulmin... |
OMIM:308240 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:79312 |
Autoimmune Hemolytic Anemia, Cold Type |
|
Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly |
ORPHA:228312 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hypogonadism, Hepatomegaly, Cardiomyopathy, Splenomegaly |
OMIM:608540 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormality of... |
OMIM:612840 |
Immunodeficiency 52 |
|
Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemolytic anemia, Splen... |
OMIM:617514 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Cholestasis, Hepatic... |
OMIM:619658 |
Babesiosis |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Myocardial infarction,... |
ORPHA:108 |
Immunodeficiency 69 |
|
Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, Anemia |
OMIM:618963 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis, Male hypogonadism, Female hypogonad... |
OMIM:240300 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Portal Hypertension, Noncirrhotic, 2 |
|
Petechiae, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia... |
OMIM:619463 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Micronodular cirrhosis, Jaundice, Splenomegaly, Malformation of the hepatic ductal ... |
OMIM:619849 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619868 |
Pentalogy Of Cantrell |
|
Atrial septal defect, Abnormal pericardium morphology, Hypospadias, Tetralogy of Fallot, Ventricu... |
ORPHA:1335 |
Slc35A1-Cdg |
|
Cellulitis, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules |
ORPHA:238459 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Neutropenia, Lymphopenia, Cellulitis, Abnormally low T cell receptor excision circle level, Hepat... |
OMIM:618986 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Increased proportion autoreactive unresponsive CD... |
OMIM:615559 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD... |
OMIM:150550 |
Meckel Syndrome, Type 6 |
|
Hepatic cysts, Renal cyst, Absent gallbladder, Hepatic fibrosis, Horseshoe kidney, Abnormal inter... |
OMIM:612284 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Failure to thrive, Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune throm... |
ORPHA:169154 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Cholelithiasis, Hypovolemic shock, Arrhythmia, Recurrent tonsillitis |
ORPHA:171876 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Iron deficiency anemia, Elevated hepatic transaminas... |
OMIM:616278 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormal biliary tract morphology, Abnormality of the pancreas, Multicystic kidney dysplasia, Abn... |
ORPHA:3032 |
Martinez-Frias Syndrome |
|
Annular pancreas, Hypospadias, Pancreatic hypoplasia, Hypoplasia of the gallbladder, Extrahepatic... |
OMIM:601346 |
Distal Trisomy 5Q |
|
Hypospadias, Aplasia/Hypoplasia of the gallbladder, Dextrocardia, Ventricular septal defect, Cryp... |
ORPHA:96097 |
Aggressive Systemic Mastocytosis |
|
Decreased liver function, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenom... |
ORPHA:98850 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Bruising susceptibility, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytop... |
OMIM:314050 |
Specific Granule Deficiency 2 |
|
Failure to thrive, Neutropenia, Anemia, Thrombocytopenia, Amelogenesis imperfecta, Absent neutrop... |
OMIM:617475 |
Leptospirosis |
|
Hepatomegaly, Pulmonary hemorrhage, Arrhythmia, First degree atrioventricular block, Hypotension,... |
ORPHA:509 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Pancreatitis, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:289916 |
Neonatal Lupus Erythematosus |
|
Neutropenia, Hepatomegaly, Atrioventricular block, Splenomegaly, Abnormal bleeding, Hepatic failu... |
ORPHA:398124 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Pelger-Huet Anomaly |
|
Failure to thrive, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant plate... |
OMIM:169400 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Abnormal T cell morphology, Neutropenia |
OMIM:613502 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, T lymphocytopenia, Decreased proportion of class-switched memory B cells, Increased... |
OMIM:615513 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Griscelli Syndrome Type 2 |
|
Neutropenia, Hepatomegaly, Hemophagocytosis, Splenomegaly, Pancytopenia, Jaundice |
ORPHA:79477 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Absent circulating B cells, Transient neutropenia |
OMIM:619707 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Caroli Syndrome |
|
Melena, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Hepatic failure, Jaundice, Abnormal bleed... |
ORPHA:480520 |
8P Inverted Duplication/Deletion Syndrome |
|
Precocious puberty, Micropenis, Tetralogy of Fallot, Aplasia/Hypoplasia of the gallbladder, Dextr... |
ORPHA:96092 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Jaundice, Cholestasis, Splenomegaly |
ORPHA:172 |
Meckel Syndrome, Type 7 |
|
Aortic valve stenosis, Atrial septal defect, Right ventricular hypertrophy, Hepatosplenomegaly, M... |
OMIM:267010 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells |
OMIM:607616 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Hemochromatosis, Type 1 |
|
Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic hypogonadism, Hepatoc... |
OMIM:235200 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:86893 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenome... |
OMIM:616828 |
Ppoma |
|
Cholelithiasis, Neoplasm of the pancreas, Abnormal abdomen morphology, Pituitary adenoma, Hepatom... |
ORPHA:97278 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Lymphadenopathy |
ORPHA:66661 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Ascites, Cardiomegaly, Co... |
OMIM:269920 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia |
OMIM:598500 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Coombs-positive hemolytic anemia, Splenomegaly, Neut... |
OMIM:603909 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the ureter, Anemia, Ascites |
ORPHA:1046 |
Grfoma |
|
Cholelithiasis, Neoplasm of the pancreas, Abnormal abdomen morphology, Pituitary adenoma, Hepatom... |
ORPHA:97261 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Neonatal cholestatic liver ... |
OMIM:214900 |
Immunodeficiency 102 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Increased proportion of CD8-p... |
OMIM:301082 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatic fibrosis, Hepatomegaly, Hepatic failure, Splenomegaly |
OMIM:616719 |
Mirage Syndrome |
|
Petechiae, Lymphopenia, Cryptorchidism, Hypergonadotropic hypogonadism, Hypospadias, Leukopenia, ... |
OMIM:617053 |
Macrophage Activation Syndrome |
|
Decreased liver function, Hepatomegaly, Hemophagocytosis, Splenomegaly, Elevated circulating aspa... |
ORPHA:158061 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Splenomegaly, Ventricular septal defect, Renal hypoplasia, Hepatic fibro... |
OMIM:616589 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Hepatomegaly, Neutropenia |
OMIM:251900 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... |
OMIM:601859 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, I... |
ORPHA:3226 |
Diamond-Blackfan Anemia 4 |
|
Neutropenia, Erythroid hypoplasia, Reticulocytopenia, Macrocytic anemia |
OMIM:612527 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Primary Myelofibrosis |
|
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Abnormal bleed... |
ORPHA:824 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Coombs-positive hemolytic anemia, Splenomegaly, Autoimmune thrombocytopenia, Decrea... |
OMIM:619375 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hepatic failure, Cirrhosis, Hepatosplenomegaly, Elevated circulating aspartate aminotransferase c... |
ORPHA:79302 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Chronic hepatitis due to... |
ORPHA:572 |
Adult Idiopathic Neutropenia |
|
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia |
ORPHA:2688 |
Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Petechiae, Hepatomegaly, Splenomegaly, Abnormal bleeding, Mediastinal lym... |
ORPHA:158029 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Neutropenia |
ORPHA:2643 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Neutropenia |
OMIM:606843 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... |
OMIM:613027 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent gallbladder, Acholi... |
OMIM:615710 |
Microphthalmia, Syndromic 9 |
|
Hypoplasia of the uterus, Atrial septal defect, Bicornuate uterus, Multilobulated spleen, Pulmoni... |
OMIM:601186 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Bruising susceptibility, Splenomegaly, Cirrhosis, Leukopenia, Hematuria, Biliary tr... |
ORPHA:77259 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, B lymphocytopenia, Thrombocytopenia, Neutropenia, A... |
OMIM:301078 |
Leishmaniasis |
|
Hepatomegaly, Splenomegaly, Abnormal bleeding, Leukopenia, Abnormal macrophage morphology, Thromb... |
ORPHA:507 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cholelithiasis, Cryptorchidism, Decreased testicular size, Micropenis |
OMIM:300534 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Lymphopenia, Cellulitis, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia... |
ORPHA:486 |
Splenoportal Vascular Anomalies |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Ascites, Anomalous splenoportal venous system |
OMIM:271500 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Autoimmune thrombocytopenia, Decreased proportion of C... |
OMIM:300853 |
Immunodeficiency 67 |
|
Liver abscess, Transient neutropenia |
OMIM:607676 |
Schnitzler Syndrome |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Vasculitis, Anemia, Lymphadenopathy |
ORPHA:37748 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Macrovesicular hepatic steatosis, Cholestasis, Acute hepatic steatosis, Hepatitis, Cholesterol ga... |
ORPHA:209902 |
Retinoschisis 1, X-Linked, Juvenile |
|
Vitreous hemorrhage |
OMIM:312700 |
Whim Syndrome 1 |
|
Neutropenia |
OMIM:193670 |
Idiopathic Aplastic Anemia |
|
Retinal hemorrhage, Pancytopenia, Gingival bleeding, Ecchymosis, Neutropenia, Bone marrow hypocel... |
ORPHA:88 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormality of the tonsils, Abnormal heart valve morphology, Cardiomy... |
ORPHA:93476 |
Gaucher Disease Type 2 |
|
Cardiac arrest, Hepatomegaly, Splenomegaly |
ORPHA:77260 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
Harderoporphyria |
|
Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Increased urinary porphobilinogen, Hemol... |
OMIM:618892 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Cellulitis, Anemia, Hepatitis, Neutropenia, Weight loss, Thrombocytopenia, Rec... |
ORPHA:47 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy, Ascites |
ORPHA:100025 |
Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... |
ORPHA:35858 |
Developmental And Epileptic Encephalopathy 66 |
|
Anemia, Neutropenia |
OMIM:618067 |
Immunodeficiency 64 |
|
Splenomegaly, Cervical lymphadenopathy, Increased proportion autoreactive unresponsive CD21-/low ... |
OMIM:618534 |
3-Methylglutaconic Aciduria, Type Viii |
|
Neutropenia |
OMIM:617248 |
Lathosterolosis |
|
Ambiguous genitalia, male, Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Schistocytosi... |
OMIM:607330 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Enamel hypoplasia, Neutropenia |
OMIM:251190 |
Aicardi-Goutieres Syndrome 4 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... |
OMIM:610333 |
Cystic Echinococcosis |
|
Abnormality of the testis size, Cholestatic liver disease, Hepatomegaly, Ovarian cyst, Eosinophil... |
ORPHA:400 |
Ghosal Hematodiaphyseal Dysplasia |
|
Anemia, Splenomegaly |
ORPHA:1802 |
Neuraminidase Deficiency |
|
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... |
OMIM:256550 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal macrophage morphology, ... |
ORPHA:2585 |
Congenital Pulmonary Lymphangiectasia |
|
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Pulmona... |
ORPHA:2414 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Hodgkin Lymphoma |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:98293 |
Erythrocytosis, Familial, 1 |
|
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... |
OMIM:133100 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Decreased liver function, Neoplasm of the liver, Hepatomegaly, Splenomegaly, Abno... |
ORPHA:77293 |
Osteopetrosis, Autosomal Recessive 4 |
|
Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Cimdag Syndrome |
|
Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly, Hypogonadism |
OMIM:619273 |
Porphyria, Congenital Erythropoietic |
|
Cholelithiasis, Splenomegaly, Hemolytic anemia, Pink urine, Thrombocytopenia |
OMIM:263700 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cholelithiasis, Bacterial endocarditis, Aortic valve calcification, Splenomegaly, Hepatosplenomeg... |
ORPHA:2072 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Coombs-positive hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, H... |
OMIM:304790 |
Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Decreased liver function, Hepatomegaly, Splenomegaly, Hypoplastic nipples |
OMIM:618268 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Pancreatitis, Hepatomegaly, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:251000 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia, Lymphadenopathy |
OMIM:613101 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
OMIM:619220 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Periportal fibrosis, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Felty Syndrome |
|
Hepatomegaly, Cellulitis, Splenomegaly, Abnormal lymphocyte morphology, Weight loss, Neutropenia,... |
ORPHA:47612 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Atrial septal defect, Cryptorchidism, Micropenis, Hypospadias, Intracranial hemorrhage, Heart mur... |
ORPHA:163979 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... |
OMIM:278000 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Aplastic anemia, Hepatitis, Pancytopenia |
OMIM:300635 |
Autosomal Agammaglobulinemia |
|
Failure to thrive, Hepatitis, Cellulitis, Neutropenia |
ORPHA:33110 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Cryoglobulinemic Vasculitis |
|
Petechiae, Hepatomegaly, Viral hepatitis, Splenomegaly, Mediastinal lymphadenopathy, Hematuria, V... |
ORPHA:91138 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Jaundice |
ORPHA:75234 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hepatic failure, Leukopenia, Cholestasis, Abnormal macrophage morphology, Hepatitis... |
ORPHA:292 |
Immunodeficiency, Common Variable, 1 |
|
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Splenomegaly, B lymphocytopen... |
OMIM:607594 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia, Decreased ... |
OMIM:613011 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Patent foramen ovale, Atrial septal defect, Hypoplastic spleen |
ORPHA:89844 |
Propionic Acidemia |
|
Failure to thrive, Pancreatitis, Hepatomegaly, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:606054 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Petechiae, Bruising susceptibility, Splenomegaly, Prolonged bleeding after dental extraction, Men... |
OMIM:153670 |
Hb Bart'S Hydrops Fetalis |
|
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pericarditis, Anemia, Congestive heart failure |
ORPHA:163596 |
Transaldolase Deficiency |
|
Telangiectasia, Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Atrial septal def... |
OMIM:606003 |
Aregenerative Anemia |
|
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... |
ORPHA:101096 |
Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Decreased body weight, Hepatomegaly, Lymphocytosis, Acute hepa... |
ORPHA:1667 |
Fish-Eye Disease |
|
Angina pectoris, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:79292 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Waldenström Macroglobulinemia |
|
Hepatomegaly, Splenomegaly, Normocytic anemia, Retinal hemorrhage, Vasculitis, Abnormality of neu... |
ORPHA:33226 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Th... |
OMIM:209950 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Micropenis,... |
OMIM:613673 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Atrial septal defect, Male urethral meatus stenosis, Hypospadias, Ventricular sep... |
ORPHA:464738 |
Alpha-1-Antitrypsin Deficiency |
|
Cirrhosis, Hepatocellular carcinoma, Elevated hepatic transaminase, Splenomegaly |
OMIM:613490 |
Osteopetrosis, Autosomal Recessive 8 |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:615085 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic transaminase, Hepatitis,... |
OMIM:613812 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Peritonitis, Cholecystitis, Elevate... |
ORPHA:131 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, Absent circulating B cells, B lymphocytope... |
OMIM:619705 |
Trisomy 8P |
|
Annular pancreas, Micropenis, Tetralogy of Fallot, Heart murmur, Aplasia/Hypoplasia of the gallbl... |
ORPHA:264450 |
22Q11.2 Deletion Syndrome |
|
Cholelithiasis, Tricuspid atresia, Abnormality of the tonsils, Ventricular septal defect, Gastroi... |
ORPHA:567 |
Bare Lymphocyte Syndrome, Type Ii |
|
Failure to thrive, Viral hepatitis, Biliary tract abnormality, Cholangitis, Neutropenia |
OMIM:209920 |
Indolent Systemic Mastocytosis |
|
Abnormal mast cell morphology, Hepatomegaly, Splenomegaly, Mastocytosis, Increased proportion of ... |
ORPHA:98848 |
Disorder Of Bile Acid Synthesis |
|
Abnormal bleeding, Cholestasis, Biliary tract abnormality, Elevated hepatic transaminase, Abnorma... |
ORPHA:79168 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Inguinal hernia, Neutropenia, Thrombocytopenia, Normochromic anemia |
OMIM:614857 |
Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Abnormal leukocyte morphology, Splenomegaly, Arrhythmia, Hemolytic anemia... |
ORPHA:98375 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Exocrine pancreatic insufficiency, Hypoplastic tricuspid valve, Atrial septal defect, Biliary atr... |
ORPHA:2255 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia, Malformation of the hepatic ductal plate, Hepatic fib... |
OMIM:607361 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Splenomegaly, Cholestasis, Portal hypertension, Jaundice |
ORPHA:59303 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Failure to thrive, Large for gestational age, Umbilical hernia, Neutropenia, Anemia, Thrombocytop... |
OMIM:614520 |
Gaucher Disease, Type I |
|
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Mitral regurgitation, Pulmonary arterial hyper... |
OMIM:230800 |
Dysplastic Cortical Hyperostosis |
|
Hepatomegaly, Splenomegaly |
ORPHA:2204 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Decreased liver function, Cholestatic liver disease, Hepatomegaly, Hemophagocytosis, Splenomegaly... |
ORPHA:540 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder, Urinary incontinence |
ORPHA:512 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... |
OMIM:603554 |
Cyclic Neutropenia |
|
Lymphopenia, Cellulitis, Peritonitis, Cyclic neutropenia, Perianal abscess, Tooth abscess, Thromb... |
ORPHA:2686 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Follicular Lymphoma |
|
Abnormality of the peritoneum, Mediastinal lymphadenopathy, Lymphadenopathy, Splenomegaly |
ORPHA:545 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Aplastic anemia, Pancytopenia, ... |
OMIM:615122 |
Immunodeficiency 97 With Autoinflammation |
|
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... |
OMIM:619802 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Macrocytic anemia, Pancytopeni... |
ORPHA:2169 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Anemia, Splenomegaly |
ORPHA:75563 |
Letterer-Siwe Disease |
|
Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice |
OMIM:246400 |
Neonatal Alloimmune Neutropenia |
|
Neutropenia in presence of anti-neutropil antibodies, Jaundice |
ORPHA:464370 |
Autoinflammatory Disease, Systemic, X-Linked |
|
Panniculitis, Hepatosplenomegaly, B lymphocytopenia, Neutropenia |
OMIM:301081 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Chronic hepatitis, Sclerosing cholangit... |
OMIM:308230 |
Classic Mycosis Fungoides |
|
Abnormal lymphocyte morphology, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:2584 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Cirrhosis, Sclerosing cholangitis, Elevated circulating aspartate aminotransferase ... |
OMIM:619662 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Immunodeficiency 54 |
|
Adrenocorticotropic hormone excess, Hepatomegaly, Splenomegaly, Lymphadenopathy, Reduced natural ... |
OMIM:609981 |
Gaucher Disease, Type Iii |
|
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia |
OMIM:231000 |
Familial Acute Necrotizing Encephalopathy |
|
Choroid hemorrhage |
ORPHA:88619 |
Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Hepatomegaly, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:251110 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Hemophagocytosis, Splenomegaly, Abnormal dense granules, Leukopenia, Impaired neutr... |
OMIM:214500 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Splenomegaly,... |
OMIM:251880 |
Fetal Gaucher Disease |
|
Hepatomegaly, Splenomegaly, Intracranial hemorrhage, Abnormality of the spleen, Pancytopenia, Thr... |
ORPHA:85212 |
Shwachman-Diamond Syndrome 1 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Small for gestational age, Pe... |
OMIM:260400 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Decreased CD4:CD8 ratio |
OMIM:618495 |
Gracile Bone Dysplasia |
|
Ascites, Hypoplastic spleen, Asplenia, Micropenis |
OMIM:602361 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Hepatomegaly, Nephronophthisis, Splenomegaly, Hepatic failure, Cholestasi... |
OMIM:615630 |
Cold Agglutinin Disease |
|
Abnormal urinary color, Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy |
ORPHA:56425 |
Pfapa Syndrome |
|
Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:42642 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Lymphopenia, Hepatomegaly, Splenomegaly, Aplasia of the thymus, Abnormally low T cell receptor ex... |
OMIM:602450 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Cholestasis, Elevated hepatic transaminase, He... |
OMIM:618641 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Leukopenia, Aplastic anemia, Pancytopenia, Hepatic fibrosis, Neutropenia, Thro... |
OMIM:613989 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Nephrotic syndrome, Lymphopenia, Recurrent tonsillitis, Splenomegaly, Lymphadenitis, Hepatospleno... |
OMIM:618935 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Posterior retinal neovascularization, Vitreous hemorrhage, Peripheral retinal neovascularization |
OMIM:193235 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Splenomegaly |
OMIM:612526 |
Osteopetrosis, Autosomal Dominant 3 |
|
Hyperparathyroidism, Anemia, Hepatomegaly, Splenomegaly |
OMIM:618107 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Splenomegaly, Cirrhosis, Myoglobinuria, Hepatocellular carc... |
ORPHA:370 |
Ornithine Transcarbamylase Deficiency |
|
Hepatic failure, Aminoaciduria, Splenomegaly |
ORPHA:664 |
Gray Platelet Syndrome |
|
Bruising susceptibility, Splenomegaly, Abnormal bleeding, Menorrhagia, Abnormal number of alpha g... |
OMIM:139090 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Gastrointestinal hemorrhage, Ja... |
ORPHA:731 |
Adult-Onset Still Disease |
|
Hepatomegaly, Neutrophilia, Leukocytosis, Splenomegaly, Myocarditis, Generalized lymphadenopathy,... |
ORPHA:829 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Thrombocytopenia, Macrothrombocytopenia, Neutropenia |
OMIM:603585 |
Coach Syndrome 1 |
|
Abnormal abdomen morphology, Hepatomegaly, Nephronophthisis, Intrahepatic bile duct dilatation, U... |
OMIM:216360 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:612126 |
Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Bladder exstrophy, Cholestasis, Ventricular septal defect, Prolong... |
OMIM:301068 |
Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Hepatomegaly, Pancytopenia, Neutropenia, Anemia, Thrombocytopenia |
OMIM:251100 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Cholelithiasis, Precocious puberty, Hepatomegaly, Hepatosplenomegaly, Cholecystitis |
OMIM:301066 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Angina pectoris, Myocardial infarction |
OMIM:213700 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Failure to thrive, Exocrine pancreatic insufficiency, Neutropenia, Sideroblas... |
OMIM:557000 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal bleeding, Palpitations, Abnormal mean cor... |
ORPHA:86839 |
Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Anemia, Neutropenia |
OMIM:614900 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Micronodular cirrhosis, Vasculitis in the skin, Raynaud phenomenon, Hematuria, Retinal hemorrhage... |
OMIM:192315 |
Thrombocythemia 1 |
|
Thrombocytosis, Splenomegaly |
OMIM:187950 |
Immunodeficiency 32B |
|
Splenomegaly |
OMIM:226990 |
Macrocephaly/Autism Syndrome |
|
Lymphopenia, Hepatomegaly, Splenomegaly |
OMIM:605309 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Atrial septal defect, Splenomegaly, Ventricular septal defect, Anemia, Thrombocytop... |
ORPHA:290 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Hemoglobinuria, Anisocytosis, Poikilocytosis, Fava bean... |
OMIM:300908 |
Wilson Disease |
|
Hepatomegaly, Acute hepatitis, Bruising susceptibility, Splenomegaly, Acute hepatic failure, Cirr... |
ORPHA:905 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Hypoplastic tricuspid valve, Atrial septal defect, Biliary atresia, Pulmonic stenosis, Total abse... |
OMIM:600001 |
Autoinflammation With Infantile Enterocolitis |
|
Splenomegaly, Diffuse alveolar hemorrhage, Pancytopenia, Anemia, Thrombocytopenia, Reduced natura... |
OMIM:616050 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Cholelithiasis, Hepatomegaly, Cryptorchidism, Micropenis, Severe B lymphocytopenia, B lymphocytop... |
ORPHA:83617 |
Polycythemia Vera |
|
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Hepatomegaly, Bruising suscepti... |
ORPHA:729 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Abnormal urinary color, Splenomegaly, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolyt... |
ORPHA:90033 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Splenomegaly, Tachycardia, Autoimmune hemolytic anemia, Congestive heart ... |
ORPHA:90037 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Splenomegaly, Heparan sulfate excretion in urine, Asymmetric septal hypertrophy, Ca... |
OMIM:252920 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Failure to thrive, Lymphopenia, Hepatomegaly, Inguinal hernia, Splenomegaly, Hypoplasia of the th... |
OMIM:612541 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Splenomegaly, B Acute Lymphoblast... |
OMIM:619824 |
Juvenile Xanthogranuloma |
|
Myeloproliferative disorder, Hyphema |
ORPHA:158000 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Intrahepatic biliary dysgenesis, Renal cyst, Clit... |
OMIM:614866 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia, Abnormality of neutrophils, Hepatitis, ... |
ORPHA:381 |
Typhoid |
|
Hepatomegaly, Splenomegaly, Epistaxis, Arrhythmia, Gastrointestinal hemorrhage, Cardiac arrest |
ORPHA:99745 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Hypospadias, Ventricular septal defect, Absent gallbladder, Hydronephrosis,... |
OMIM:300712 |
Legionnaires Disease |
|
Pancreatitis, Lymphopenia, Splenomegaly, Arrhythmia, Hematuria, Myocarditis, Hypotension, Endocar... |
ORPHA:549 |
Genitopalatocardiac Syndrome |
|
Abnormal cardiac septum morphology, Gonadal dysgenesis, male, Hypospadias, Male pseudohermaphrodi... |
ORPHA:2075 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Intrahepatic cholestasis, Interm... |
OMIM:601847 |
Cohen Syndrome |
|
Leukopenia, Small for gestational age, Childhood-onset truncal obesity, Neutropenia |
OMIM:216550 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Glycosuria, Proteinuria, Hypopl... |
ORPHA:699 |
Immunodeficiency, Common Variable, 2 |
|
Follicular hyperplasia, Hepatomegaly, Lymphadenopathy, Splenomegaly |
OMIM:240500 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Hepatic failure, Extramedullary hematopoiesis, Ch... |
ORPHA:79303 |
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Cutaneous abscess, Neutropenia, Reduced natural killer cell count, Lymphopenia |
OMIM:619752 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hepatomegaly, Atrial septal defect, Splenomegaly, Unilateral renal agenesis, Cirrhosis, Abnormal ... |
OMIM:614576 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Failure to thrive, Exocrine pancreatic insufficiency, Neutrope... |
ORPHA:811 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Nephronophthisis, Intrahepatic bile duct dilatation, Hepatic cysts, Mi... |
OMIM:614377 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Elevated hepatic tr... |
OMIM:607765 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cholangiocarcinoma, Testicular atrophy, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotropic h... |
ORPHA:465508 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Leukocytosis, Splenomegaly, Lymphadenitis, Cholestasis, Hematochezia, Elevated hepa... |
OMIM:615895 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Elevated hepatic transaminase |
OMIM:613489 |
Pgm3-Cdg |
|
Cutaneous abscess, Failure to thrive, Abnormal proportion of CD8-positive T cells, Lymphopenia, N... |
ORPHA:443811 |
Barth Syndrome |
|
Failure to thrive, Granulocytopenia, Hypochromic microcytic anemia, Cyclic neutropenia, Neutropenia |
OMIM:302060 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Transcobalamin Ii Deficiency |
|
Failure to thrive, Macrocytic anemia, Pancytopenia, Neutropenia, Reticulocytopenia |
OMIM:275350 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Elevated hepatic transaminase, Intrahepatic cholesta... |
OMIM:235555 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Cervix cancer, Abno... |
ORPHA:2869 |
Primary Lipodystrophy |
|
Angina pectoris, Pancreatitis, Splenomegaly, Cirrhosis, Polycystic ovaries, Hypertension, Hepatic... |
ORPHA:90970 |
Digeorge Syndrome |
|
Cholelithiasis, Hydrocele testis, Splenomegaly, Unilateral renal agenesis, Ovarian cyst, Hypoplas... |
OMIM:188400 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Urinary retention, Cardiome... |
ORPHA:97297 |
Niemann-Pick Disease, Type A |
|
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransfera... |
OMIM:257200 |
Fusariosis |
|
Lymphopenia, Cellulitis, Peritonitis, Abnormality of the spleen, Brain abscess, Fasciitis, Neutro... |
ORPHA:228119 |
Retinoblastoma |
|
Vitreous hemorrhage, Subretinal pigment epithelium hemorrhage, Leukemia, Pineoblastoma, Hyphema |
ORPHA:790 |
Eales Disease |
|
Vitreous hemorrhage, Peripheral retinal neovascularization, Transient ischemic attack, Ischemic s... |
ORPHA:40923 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Leukopenia, Macrovesicular hepatic steatosis, Ne... |
OMIM:617303 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Lymphadenopathy, Leukocytosis, Splenomegaly |
OMIM:611762 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
Ketamine-Induced Biliary Dilatation |
|
Dysuria, Abnormal biliary tract morphology |
ORPHA:293807 |
Gaucher Disease, Type Ii |
|
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly |
OMIM:230900 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Failure to thrive, Neutropenia |
OMIM:608809 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Autoimmune thr... |
ORPHA:1959 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Infection associated neutropenia, Hepatic steatosis, Neutropenia |
ORPHA:445038 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Neutropenia |
OMIM:600351 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly |
OMIM:306000 |
Necrotizing Enterocolitis |
|
Leukocytosis, Small for gestational age, Peritonitis, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
Essential Thrombocythemia |
|
Splenomegaly, Myocardial infarction, Abnormal platelet morphology, Transient ischemic attack, Acu... |
ORPHA:3318 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Anemia of inadequate production, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, A... |
OMIM:612714 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Leukopenia, Pancytopenia, Weight loss, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:520 |
Hemophagocytic Syndrome Associated With An Infection |
|
Neutropenia, Hepatomegaly, Abnormal T cell subset distribution, Hemophagocytosis, Splenomegaly, P... |
ORPHA:158048 |
Spherocytosis, Type 4 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
Saul-Wilson Syndrome |
|
Neutropenia |
OMIM:618150 |
Wolman Disease |
|
Hepatomegaly, Splenomegaly, Hepatic failure, Anemia, Bone-marrow foam cells, Ascites |
ORPHA:75233 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Lymphadenopathy, Hepatomegaly, Splenomegaly |
ORPHA:85414 |
Caspase 8 Deficiency |
|
Lymphadenopathy, Decreased CD4:CD8 ratio, Splenomegaly |
OMIM:607271 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Splenomegaly, Leukopenia, Mediastinal lymphadenopathy, Nephropathy, Myocarditis, He... |
ORPHA:809 |
Omenn Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte m... |
ORPHA:39041 |
Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Lymphopenia, Pancreatitis, Small for gestational age, Abnormal proportion of n... |
ORPHA:1830 |
Free Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Proteinuria, Ascites |
ORPHA:834 |
Spherocytosis, Type 2 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:616649 |
Q Fever |
|
Abnormal left ventricular function, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Endocarditis,... |
ORPHA:781 |
Sepsis In Premature Infants |
|
Decreased liver function, Decreased body weight, Hepatomegaly, Leukocytosis, Splenomegaly, Small ... |
ORPHA:90051 |
Shwachman-Diamond Syndrome 2 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Hyperechogenic pancreas, Norm... |
OMIM:617941 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Arrhythmia, Myocarditis, Lymphadenopathy, Cardiomyopathy, Congestive ... |
ORPHA:3386 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Splenomegaly |
OMIM:614979 |
Immunodeficiency 36 |
|
Lymphopenia, Enlarged tonsils, Splenomegaly, B lymphocytopenia, Chronic lymphatic leukemia, Decre... |
OMIM:616005 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Myeloproli... |
ORPHA:98849 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Brain abscess, Abnormality of the pancreas, Elevated hepatic transaminase, Weight l... |
ORPHA:54251 |
Triploidy |
|
Abnormal cardiac septum morphology, Hepatomegaly, Hypoplasia of penis, Hypospadias, Abnormality o... |
ORPHA:3376 |
Prolidase Deficiency |
|
Petechiae, Hepatomegaly, Diffuse telangiectasia, Splenomegaly, Elevated circulating aspartate ami... |
OMIM:170100 |
X-Linked Lymphoproliferative Disease |
|
Hemophagocytosis, Hepatic failure, Cervical lymphadenopathy, Aplastic anemia, B lymphocytopenia, ... |
ORPHA:2442 |
Senior-Boichis Syndrome |
|
Chronic kidney disease, Reduced renal corticomedullary differentiation, Anemia, Cirrhosis, Hepato... |
ORPHA:84081 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anemia, Anisopoikilocytosis, Neutropenia |
OMIM:619835 |
Dominant Beta-Thalassemia |
|
Hypoparathyroidism, Decreased mean corpuscular volume, High-output congestive heart failure, Sple... |
ORPHA:231226 |
Tangier Disease |
|
Left ventricular hypertrophy, Hepatomegaly, Myocardial infarction, Splenomegaly |
OMIM:205400 |
Exudative Vitreoretinopathy 4 |
|
Vitreous hemorrhage |
OMIM:601813 |
Trichothiodystrophy 3, Photosensitive |
|