Diamond-Blackfan Anemia 19 |
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Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
Transient Erythroblastopenia Of Childhood |
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Anemia, Transient erythroblastopenia |
OMIM:227050 |
Hemoglobin D Disease |
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Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Diamond-Blackfan Anemia 17 |
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Anemia |
OMIM:617409 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Fetal Parvovirus Syndrome |
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Ascites, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Increased nuchal transluce... |
ORPHA:295 |
Reticuloendotheliosis, X-Linked |
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Anemia, Jaundice, Hepatosplenomegaly |
OMIM:312500 |
Hemoglobin H Disease |
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HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia |
OMIM:613978 |
Hemoglobin-Delta locus |
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Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... |
OMIM:603902 |
Cyanosis, Transient Neonatal |
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Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice |
OMIM:613977 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
Erythroleukemia, Familial, Susceptibility To |
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Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... |
OMIM:133180 |
Congenital Atransferrinemia |
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Anemia, Abnormality of the pancreas |
ORPHA:1195 |
Hemoglobin E Disease |
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Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Intrauteri... |
ORPHA:2133 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Hemoglobin E-Beta-Thalassemia Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Thanatophoric Dysplasia, Glasgow Variant |
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Anemia, Hepatosplenomegaly, Neonatal death |
OMIM:273680 |
Hyperbilirubinemia, Shunt, Primary |
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Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... |
OMIM:237800 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... |
OMIM:616860 |
Isobutyryl-Coa Dehydrogenase Deficiency |
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Anemia, Dilated cardiomyopathy |
OMIM:611283 |
Hydrops Fetalis, Nonimmune |
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Anemia, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
Congenital Amegakaryocytic Thrombocytopenia |
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Anemia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Diamond-Blackfan Anemia 16 |
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Anemia, Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Eosinophilia, Familial |
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Leukocytosis, Eosinophilia, Thrombocytopenia, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Alpha-Thalassemia |
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Generalized edema, Cholelithiasis, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Ba... |
ORPHA:846 |
Hemochromatosis, Type 2B |
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Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Spleno... |
OMIM:613313 |
Transaldolase Deficiency |
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Biventricular hypertrophy, Hepatosplenomegaly, Cirrhosis, Atrial septal defect, Thrombocytopenia,... |
ORPHA:101028 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Erythroid hyperplasia, Elevated hepatic iron concentration, Hypochromia, Anemia, Decreased mean c... |
OMIM:206100 |
Hb Bart'S Hydrops Fetalis |
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Oligohydramnios, Polyhydramnios, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Hydrops... |
ORPHA:163596 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Hemophagocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Jaundice, Edema |
OMIM:603552 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... |
OMIM:615285 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia |
OMIM:608898 |
Delta-Beta-Thalassemia |
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Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomyopathy, Hepat... |
OMIM:613673 |
Diffuse Neonatal Hemangiomatosis |
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Ascites, Polyhydramnios, Hepatomegaly, Thrombocytopenia, Anemia, Hydrops fetalis |
ORPHA:2123 |
Trimethylaminuria |
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Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
Vitamin B12-Responsive Methylmalonic Acidemia |
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Anemia, Hepatomegaly, Dehydration |
ORPHA:28 |
Dehydrated Hereditary Stomatocytosis |
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Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... |
ORPHA:3202 |
Congenital Toxoplasmosis |
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Elevated circulating hepatic transaminase concentration, Ascites, Intrauterine growth retardation... |
ORPHA:858 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice |
OMIM:224100 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Sideroblastic anemia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilocytosis, Anemia, Elevated h... |
OMIM:615234 |
Alpha-Heavy Chain Disease |
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Anemia, Hepatomegaly, Splenomegaly, Ascites |
ORPHA:100025 |
Pyruvate Kinase Deficiency Of Red Cells |
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Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Intrauterine growt... |
OMIM:266200 |
Dehydrated Hereditary Stomatocytosis 2 |
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Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Dohle Bodies And Leukemia |
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Secundum atrial septal defect, Leukocyte inclusion bodies, Lymphedema, Acute myeloid leukemia, An... |
OMIM:223350 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Cardiomegaly, Peri... |
OMIM:620135 |
Beta-Thalassemia |
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Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... |
ORPHA:848 |
Immunodeficiency 69 |
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Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
Anemia, Sideroblastic, 5 |
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Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... |
OMIM:235700 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Increased mean corpuscular volume, Extramedullary hematopoiesis, Decreased liver function, Ascite... |
OMIM:617021 |
Hemochromatosis, Type 4 |
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Cardiomyopathy, Hepatic steatosis, Hepatomegaly, Cirrhosis, Anemia |
OMIM:606069 |
Hemochromatosis, Type 3 |
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Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Lymphopenia, Cirrhosis, ... |
OMIM:604250 |
Mu-Heavy Chain Disease |
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Anemia, Hepatomegaly, Abnormal B cell count, Splenomegaly |
ORPHA:100024 |
Infantile Liver Failure Syndrome 1 |
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Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Hepatic steatosis... |
OMIM:615438 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
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Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrops f... |
OMIM:616738 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
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Cardiomyopathy, Leukopenia, Macrocytic anemia, Hepatomegaly, Pancreatitis, Thrombocytopenia, Anem... |
ORPHA:27 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Hepatoportal Sclerosis |
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Nodular regenerative hyperplasia of liver, Periportal fibrosis, Elevated circulating hepatic tran... |
ORPHA:64743 |
Overhydrated Hereditary Stomatocytosis |
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Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Lymphatic Malformation 7 |
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Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Congenital Disorder Of Glycosylation, Type Ih |
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Decreased liver function, Cholestasis, Ascites, Intrauterine growth retardation, Oligohydramnios,... |
OMIM:608104 |
Transaldolase Deficiency |
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Hepatic fibrosis, Micronodular cirrhosis, Decreased liver function, Hepatosplenomegaly, Pancytope... |
OMIM:606003 |
Spherocytosis, Type 5 |
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Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
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Anemia, Thrombocytopenia, Neutropenia, Monocytosis |
OMIM:620534 |
Diamond-Blackfan Anemia 20 |
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Erythroid hypoplasia, Anemia, Total anomalous pulmonary venous return |
OMIM:618313 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
Acute Erythroid Leukemia |
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Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia |
ORPHA:318 |
Lymphoproliferative Syndrome 1 |
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Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:613011 |
Combined Oxidative Phosphorylation Deficiency 40 |
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Decreased liver function, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Nonimmune... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Cardiomyopathy, Decreased liver function, Intrauterine growth retardation, Nonimmune hydrops feta... |
OMIM:618839 |
Anemia, Sideroblastic, 1 |
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Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... |
OMIM:300751 |
Formiminoglutamic Aciduria |
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Anemia, Megaloblastic anemia, Atrial septal defect |
ORPHA:51208 |
Bleeding Disorder, Platelet-Type, 16 |
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Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia |
OMIM:187800 |
Focal Segmental Glomerulosclerosis 1 |
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Anemia, Pleural effusion, Edema, Ascites |
OMIM:603278 |
Neonatal Lupus Erythematosus |
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Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Dilate... |
ORPHA:398124 |
Cholesteryl Ester Storage Disease |
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Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Increased hepa... |
OMIM:278000 |
Osteopetrosis, Autosomal Recessive 8 |
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Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia |
OMIM:615085 |
Rh Deficiency Syndrome |
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Stomatocytosis, Hepatosplenomegaly, Intrauterine growth retardation, Oligohydramnios, Reticulocyt... |
ORPHA:71275 |
Wolman Disease |
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Hepatic failure, Ascites, Splenomegaly, Hepatomegaly, Anemia, Bone-marrow foam cells |
ORPHA:75233 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
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Abnormal tricuspid valve morphology, Polyhydramnios, Ventricular septal defect, Anemia, Hydrops f... |
ORPHA:3405 |
Wilson Disease |
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Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Acute ... |
ORPHA:905 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Congenital Enterovirus Infection |
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Hepatic failure, Fetal ascites, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, Leukocytosis,... |
ORPHA:292 |
Hereditary Spherocytosis |
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Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... |
ORPHA:822 |
Fetal Cytomegalovirus Syndrome |
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Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterine growth retardati... |
ORPHA:294 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Anemia |
OMIM:612840 |
Combined Oxidative Phosphorylation Deficiency 41 |
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Anemia, Intrauterine growth retardation, Cardiomegaly, Nonimmune hydrops fetalis |
OMIM:618838 |
Immunodeficiency 32B |
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Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen... |
OMIM:226990 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:182900 |
Tafro Syndrome |
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Anasarca, Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Hepatomegaly... |
ORPHA:457077 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia |
OMIM:616649 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Increased mean corpuscular volume, Splenomegaly, Reticulocytosis, Hepatomegaly, P... |
OMIM:185000 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Anemia, Hepatomegaly, Splenomegaly |
OMIM:620296 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Facial edema, Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia |
OMIM:618398 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor... |
ORPHA:98870 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Generalized edema, Ascites, Hepatomegaly, Iron deficiency anemia, Thrombocytosis, Anemia, Edema |
OMIM:226300 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Reticulocytopenia, D... |
ORPHA:300298 |
Desmoplastic Small Round Cell Tumor |
|
Ascites, Hepatomegaly, Abnormal peritoneum morphology, Anemia, Neoplasm of the pancreas |
ORPHA:83469 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Cholelithiasis, Splenomegaly, Cholecystitis, Decreased erythrocyte fructose-1,... |
OMIM:611881 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
Gamma-Heavy Chain Disease |
|
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Thromboc... |
ORPHA:100026 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Macular edema, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thr... |
OMIM:616959 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatic failure, Elevated circulating hepatic transaminase concentration, Exocrine pancreatic ins... |
OMIM:557000 |
Hemochromatosis, Type 5 |
|
Anemia, Elevated hepatic iron concentration |
OMIM:615517 |
Amoebiasis Due To Entamoeba Histolytica |
|
Elevated circulating hepatic transaminase concentration, Abnormal pericardium morphology, Leukocy... |
ORPHA:67 |
Omenn Syndrome |
|
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Thrombocytopenia, B l... |
OMIM:603554 |
Interstitial Lung And Liver Disease |
|
Hepatic fibrosis, Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase c... |
OMIM:615486 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... |
OMIM:210250 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Jaundice, Congenital hypoplastic anemia, Anemia of inadequate production |
OMIM:105600 |
Senior-Boichis Syndrome |
|
Malformation of the hepatic ductal plate, Hepatic fibrosis, Elevated circulating hepatic transami... |
ORPHA:84081 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |