Diamond-Blackfan Anemia 19 |
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Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Fetal Cytomegalovirus Syndrome |
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Splenomegaly, Anemia, Hepatomegaly |
ORPHA:294 |
Transient Erythroblastopenia Of Childhood |
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Transient erythroblastopenia, Anemia |
OMIM:227050 |
Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
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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Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
Fetal Parvovirus Syndrome |
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Increased nuchal translucency, Hydrops fetalis, Anemia, Intrauterine growth retardation, Hypertro... |
ORPHA:295 |
Reticuloendotheliosis, X-Linked |
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Jaundice, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Hemoglobin H Disease |
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Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Hemoglobin-Delta locus |
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Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
Cyanosis, Transient Neonatal |
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Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Alpha-Thalassemia |
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Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Erythroleukemia, Familial, Susceptibility To |
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Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Congenital Atransferrinemia |
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Abnormality of the pancreas, Anemia |
ORPHA:1195 |
Hemoglobin E Disease |
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Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Thanatophoric Dysplasia, Glasgow Variant |
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Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
Hemoglobin E-Beta-Thalassemia Syndrome |
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Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hyperbilirubinemia, Shunt, Primary |
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Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... |
OMIM:237800 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Isobutyryl-Coa Dehydrogenase Deficiency |
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Dilated cardiomyopathy, Anemia |
OMIM:611283 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenome... |
OMIM:616860 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Hydrops Fetalis, Nonimmune |
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Hydrops fetalis, Nonimmune hydrops fetalis, Anemia |
OMIM:236750 |
Congenital Amegakaryocytic Thrombocytopenia |
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Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Diamond-Blackfan Anemia 16 |
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Atrial septal defect, Pulmonic stenosis, Anemia |
OMIM:617408 |
Eosinophilia, Familial |
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Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia |
OMIM:131400 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Decreased mean corpuscular volume, Elevated hepatic iron concentration, Erythroid hyperplasia, Hy... |
OMIM:206100 |
Hemochromatosis, Type 2B |
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Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cardiomyopathy, Hepatic fibrosis, Cirr... |
OMIM:613313 |
Hb Bart'S Hydrops Fetalis |
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Hepatomegaly, Pericarditis, Abnormal hemoglobin, Polyhydramnios, Splenomegaly, Hydrops fetalis, A... |
ORPHA:163596 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
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Hepatomegaly, Edema, Splenomegaly, Jaundice, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Transaldolase Deficiency |
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Edema, Hydrops fetalis, Hepatosplenomegaly, Anemia, Biventricular hypertrophy, Cirrhosis, Atrial ... |
ORPHA:101028 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
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Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Delta-Beta-Thalassemia |
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Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Diffuse Neonatal Hemangiomatosis |
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Hepatomegaly, Polyhydramnios, Hydrops fetalis, Anemia, Ascites, Thrombocytopenia |
ORPHA:2123 |
Trimethylaminuria |
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Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Vitamin B12-Responsive Methylmalonic Acidemia |
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Hepatomegaly, Anemia, Dehydration |
ORPHA:28 |
Congenital Toxoplasmosis |
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Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Jaundice, Anemia, Intrauterine growth ... |
ORPHA:858 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... |
OMIM:224120 |
Dehydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... |
ORPHA:3202 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
Anemia, Congenital Dyserythropoietic, Type Ii |
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Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Dehydrated Hereditary Stomatocytosis 2 |
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Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Pyruvate Kinase Deficiency Of Red Cells |
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Decreased hemoglobin concentration, Reticulocytosis, Hepatomegaly, Nonimmune hydrops fetalis, Red... |
OMIM:266200 |
Alpha-Heavy Chain Disease |
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Splenomegaly, Ascites, Anemia, Hepatomegaly |
ORPHA:100025 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... |
OMIM:615234 |
Immunodeficiency 69 |
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Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
Beta-Thalassemia |
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Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Anemia, Cholelithi... |
ORPHA:848 |
Dohle Bodies And Leukemia |
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Acute myeloid leukemia, Leukocyte inclusion bodies, Lymphedema, Secundum atrial septal defect, An... |
OMIM:223350 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Intrauterine growth... |
OMIM:620135 |
Anemia, Sideroblastic, 5 |
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Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Hemochromatosis, Type 4 |
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Hepatomegaly, Cardiomyopathy, Cirrhosis, Hepatic steatosis, Anemia |
OMIM:606069 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Nonimmune hydrops fetalis, ... |
OMIM:617021 |
Acute Erythroid Leukemia |
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Anemia, Erythroid hypoplasia, Pancytopenia, Leukopenia |
ORPHA:318 |
Hemochromatosis, Type 3 |
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Elevated hepatic transaminase, Cardiomyopathy, Cirrhosis, Neutropenia, Lymphopenia, Anemia |
OMIM:604250 |
Mu-Heavy Chain Disease |
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Splenomegaly, Abnormal B cell count, Anemia, Hepatomegaly |
ORPHA:100024 |
Infantile Liver Failure Syndrome 1 |
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Acute hepatic failure, Hepatomegaly, Macrocytic anemia, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
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Hepatomegaly, Macrocytic anemia, Dehydration, Anemia, Leukopenia, Cardiomyopathy, Pancreatitis, T... |
ORPHA:27 |
Hepatoportal Sclerosis |
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Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Hy... |
ORPHA:64743 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Formiminoglutamic Aciduria |
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Atrial septal defect, Anemia, Megaloblastic anemia |
ORPHA:51208 |
Lymphatic Malformation 7 |
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Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Spherocytosis, Type 5 |
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Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Diamond-Blackfan Anemia 20 |
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Erythroid hypoplasia, Total anomalous pulmonary venous return, Anemia |
OMIM:618313 |
Anemia, Sideroblastic, 1 |
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Sideroblastic anemia, Macrocytic anemia, Anemia of inadequate production, Hypochromic microcytic ... |
OMIM:300751 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
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Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... |
OMIM:235700 |
Transaldolase Deficiency |
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Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Micronodular cirrhosis, Hepa... |
OMIM:606003 |
Congenital Disorder Of Glycosylation, Type Ih |
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Hepatomegaly, Edema, Cholestasis, Anemia, Perimembranous ventricular septal defect, Decreased liv... |
OMIM:608104 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Lymphoproliferative Syndrome 1 |
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Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial... |
OMIM:613011 |
Combined Oxidative Phosphorylation Deficiency 40 |
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Nonimmune hydrops fetalis, Decreased liver function, Neonatal death, Intrauterine growth retardat... |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
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Nonimmune hydrops fetalis, Cardiomyopathy, Decreased liver function, Neonatal death, Intrauterine... |
OMIM:618839 |
Neonatal Lupus Erythematosus |
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Elevated hepatic transaminase, Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Spl... |
ORPHA:398124 |
Bleeding Disorder, Platelet-Type, 16 |
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Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Thrombocytopenia |
OMIM:187800 |
Focal Segmental Glomerulosclerosis 1 |
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Pleural effusion, Ascites, Anemia, Edema |
OMIM:603278 |
Osteopetrosis, Autosomal Recessive 8 |
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Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly |
OMIM:615085 |
Cholesteryl Ester Storage Disease |
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Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:278000 |
Hereditary Elliptocytosis |
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Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Hydro... |
ORPHA:288 |
Wolman Disease |
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Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Hepatic failure, Anemia |
ORPHA:75233 |
Rh Deficiency Syndrome |
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Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
Wilson Disease |
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Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
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Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Abnormal tricuspid valve morphology, ... |
ORPHA:3405 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Congenital Enterovirus Infection |
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Abnormal macrophage morphology, Polyhydramnios, Fetal ascites, Pericardial effusion, Myocarditis,... |
ORPHA:292 |
Hereditary Spherocytosis |
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Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Restri... |
ORPHA:822 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia |
OMIM:612840 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
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Hydrops fetalis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia |
OMIM:616738 |
Osteopetrosis, Autosomal Recessive 4 |
|
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia |
OMIM:611490 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... |
OMIM:226990 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Intrauterine growth retardation, Nonimmune hydrops fetalis, Anemia, Cardiomegaly |
OMIM:618838 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis |
OMIM:182900 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis |
OMIM:616649 |
Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Pericardial effusion, Pedal edema, Anemi... |
ORPHA:77259 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Facial edema, Splenomegaly, Hemophagocytosis, Anemia |
OMIM:618398 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Increased mean corp... |
ORPHA:98870 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Anemia, Hepatomegaly |
OMIM:620296 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decrea... |
ORPHA:300298 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Edema, Iron deficiency anemia, Thrombocytosis, Ascites, Anemia, Generalized edema |
OMIM:226300 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Ascites, Anemia |
ORPHA:83469 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... |
ORPHA:100026 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransf... |
OMIM:611881 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... |
OMIM:557000 |
Hemochromatosis, Type 5 |
|
Anemia, Elevated hepatic iron concentration |
OMIM:615517 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... |
OMIM:603554 |
Letterer-Siwe Disease |
|
Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia |
OMIM:246400 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:615486 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Jaundice, Anemia of inadequate production, Congenital hypoplastic anemia |
OMIM:105600 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Malformation of the hepatic ductal plate, Con... |
ORPHA:84081 |