Hydrops Fetalis, Nonimmune |
|
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:236750 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
Transient Erythroblastopenia Of Childhood |
|
Anemia, Transient erythroblastopenia |
OMIM:227050 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Fetal pericardial effusion, Fetal ascites, Splenomegaly, Hydrops fetalis, Polyhydramnios, Fetal p... |
OMIM:619462 |
Fetal Parvovirus Syndrome |
|
Ascites, Increased nuchal translucency, Thrombocytopenia, Anemia, Hydrops fetalis |
ORPHA:295 |
Nuchal Bleb, Familial |
|
Hydrops fetalis, Fetal cystic hygroma |
OMIM:257350 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... |
ORPHA:766 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Heinz Body Anemias |
|
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia |
OMIM:140700 |
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:613124 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Diamond-Blackfan Anemia 13 |
|
Normocytic anemia, Elevated red cell adenosine deaminase activity |
OMIM:615909 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Hyperkalemia |
OMIM:614495 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reduced erythrocyte adenylate kinase activity |
OMIM:612631 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Anemia, Sideroblastic anemia, Decreased mean corpuscular volume, Hypochromia |
OMIM:205950 |
Hb Bart'S Hydrops Fetalis |
|
Oligohydramnios, Polyhydramnios, Splenomegaly, Abnormal hemoglobin, Anemia, Hydrops fetalis |
ORPHA:163596 |
Lymphatic Malformation 8 |
|
Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion |
OMIM:618773 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Hyperkalemia |
OMIM:614496 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Anemia, Hydrops fetalis, Polyhydramnios, Single umbilical artery |
ORPHA:3405 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Diffuse Neonatal Hemangiomatosis |
|
Ascites, Polyhydramnios, Thrombocytopenia, Anemia, Hydrops fetalis, Premature birth |
ORPHA:2123 |
Alpha-Thalassemia |
|
Generalized edema, Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplen... |
ORPHA:846 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Hyperkalemia, Decreased circulating renin level |
OMIM:614492 |
Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Refractory macrocytic anemia, Anemia of inadequate production |
OMIM:153550 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrops f... |
OMIM:616738 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Thrombocytopenia, Anemia, Hydrops fetalis, Edema |
ORPHA:101028 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Indomethacin Embryofetopathy |
|
Oligohydramnios, Hydrops fetalis, Premature birth |
ORPHA:1909 |
Developmental And Epileptic Encephalopathy 96 |
|
Hydrops fetalis |
OMIM:619340 |
Lymphatic Malformation 12 |
|
Fetal pericardial effusion, Fetal ascites, Fetal chylothorax, Lymphedema, Nonimmune hydrops fetal... |
OMIM:620014 |
Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Polyhydramnios, Hydrops fetalis, Splenomegaly |
ORPHA:2204 |
Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic dyserythropoietic anemia, Macrocytic anemia |
OMIM:619789 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Premature birth, Nonimmune hydrops fetalis |
OMIM:618838 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Non... |
OMIM:266200 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia |
OMIM:206100 |
Congenital Pulmonary Lymphangiectasia |
|
Ascites, Pleural effusion, Splenomegaly, Hydrops fetalis, Chylopericardium |
ORPHA:2414 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Fetal pericardial effusion, Increased mean corpuscular volume, Extramedullary hematopoiesis, Asci... |
OMIM:617021 |
Dohle Bodies And Leukemia |
|
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies, Lymphedema |
OMIM:223350 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly |
OMIM:312500 |
Anemia, Sideroblastic, 1 |
|
Sideroblastic anemia, Hypochromic microcytic anemia, Anemia of inadequate production, Macrocytic ... |
OMIM:300751 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Leukocytosis |
OMIM:619398 |
Hydrops Fetalis |
|
Generalized edema, Increased placental thickness, Lymphedema, Ascites, Pleural effusion, Nonimmun... |
ORPHA:1041 |
Congenital Enterovirus Infection |
|
Fetal ascites, Fetal distress, Leukopenia, Leukocytosis, Abnormal macrophage morphology, Pleural ... |
ORPHA:292 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia |
OMIM:133180 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Achondrogenesis, Type Ib |
|
Polyhydramnios, Breech presentation, Hydrops fetalis, Edema |
OMIM:600972 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Ascites, Hydrops fetalis |
OMIM:619433 |
Long Qt Syndrome 3 |
|
Hydrops fetalis, Nonimmune hydrops fetalis |
OMIM:603830 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Abnormality of the amniotic fluid, Splenomegaly, Nonimmune hydrops fetalis |
OMIM:608540 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Anemia |
OMIM:611283 |
Hereditary Elliptocytosis |
|
Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Reticulocytosis, Sp... |
ORPHA:288 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Fetal ascites, Hydrops fetalis, Premature birth |
OMIM:215045 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:300971 |
Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
Sialidosis Type 2 |
|
Ascites, Hydrops fetalis, Splenomegaly, Pedal edema |
ORPHA:87876 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Infantile Sialic Acid Storage Disease |
|
Ascites, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis, Premature birth |
OMIM:269920 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
OMIM:131400 |
Fetal Gaucher Disease |
|
Abnormality of the spleen, Pancytopenia, Splenomegaly, Decreased fetal movement, Fetal akinesia s... |
ORPHA:85212 |
Congenital Heart Block |
|
Oligohydramnios, Pleural effusion, Peripheral edema, Vaginal birth after Caesarian, Pericardial e... |
ORPHA:60041 |
Glycogen Storage Disease Iv |
|
Ascites, Hepatosplenomegaly, Decreased fetal movement, Polyhydramnios, Hydrops fetalis, Edema |
OMIM:232500 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Fetal akinesia sequence, Hydrops fetalis |
OMIM:618815 |
Lymphatic Malformation 1 |
|
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Nonimmune hydrops fetalis |
OMIM:153100 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... |
OMIM:265300 |
Achondrogenesis |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:932 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Congenital Atransferrinemia |
|
Anemia |
ORPHA:1195 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Predominantly lower limb lymphedema, Ascites, Pleural effusion, Palpebral edema, Hydrops fetalis |
ORPHA:69735 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis |
OMIM:266140 |
Idiopathic Neonatal Atrial Flutter |
|
Hydrops fetalis, Fetal distress |
ORPHA:45452 |
Ulnar Agenesis And Endocardial Fibroelastosis |
|
Hydrops fetalis |
OMIM:276822 |
Hyperbilirubinemia, Shunt, Primary |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis |
OMIM:237800 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Anemia |
OMIM:618313 |
Refractory Anemia |
|
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... |
ORPHA:98826 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Achondrogenesis Type 1B |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:93298 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Bleeding Disorder, Platelet-Type, 16 |
|
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Anemia, Macrothrombocytopenia |
OMIM:187800 |
Neuraminidase Deficiency |
|
Facial edema, Ascites, Bone-marrow foam cells, Splenomegaly, Vacuolated lymphocytes, Hydrops fetalis |
OMIM:256550 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anemia, Thrombocytopenia, Neutropenia, Monocytosis |
OMIM:620534 |
Achondrogenesis Type 1A |
|
Polyhydramnios, Hydrops fetalis, Thickened nuchal skin fold |
ORPHA:93299 |
Alg8-Cdg |
|
Ascites, Oligohydramnios, Thrombocytopenia, Anemia, Hydrops fetalis, Edema, Premature birth |
ORPHA:79325 |
Diamond-Blackfan Anemia 12 |
|
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... |
OMIM:615550 |
Diamond-Blackfan Anemia 9 |
|
Anemia |
OMIM:613308 |
Klippel-Trénaunay Syndrome |
|
Microcytic anemia, Hydrops fetalis, Edema, Ascites |
ORPHA:90308 |
Acute Erythroid Leukemia |
|
Erythroid hypoplasia, Pancytopenia, Anemia, Leukopenia |
ORPHA:318 |
Boomerang Dysplasia |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:1263 |
Hemochromatosis, Neonatal |
|
Oligohydramnios, Nonimmune hydrops fetalis |
OMIM:231100 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis |
OMIM:617441 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia |
OMIM:608898 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Nonimmune hydrops fetalis, Hypoplasia of the thymus, Impaired ... |
OMIM:619313 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Polyhydramnios, Hydrops fetalis, Decreased fetal movement |
OMIM:255320 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Nonimmune hydrops fetalis |
ORPHA:477774 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Premature birth, Nonimmune hydrops fetalis |
OMIM:618835 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Premature birth, Nonimmune hydrops fetalis |
OMIM:618839 |
Bleeding Disorder, Platelet-Type, 19 |
|
Anemia, Macrothrombocytopenia, Thrombocytopenia |
OMIM:616176 |
Overhydrated Hereditary Stomatocytosis |
|
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Free Sialic Acid Storage Disease |
|
Ascites, Hydrops fetalis, Splenomegaly |
ORPHA:834 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Trimethylaminuria |
|
Anemia, Splenomegaly, Neutropenia |
OMIM:602079 |
Spherocytosis, Type 5 |
|
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... |
OMIM:612690 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Nonimmune hydrops fetalis |
OMIM:619003 |
Congenital Disorder Of Glycosylation, Type Il |
|
Ascites, Fetal skin edema, Splenomegaly, Decreased fetal movement, Pericardial effusion, Hydrops ... |
OMIM:608776 |
Lymphatic Malformation 6 |
|
Facial edema, Generalized edema, Chylothorax, Lymphedema, Ascites, Pleural effusion, Splenomegaly... |
OMIM:616843 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Anemia, Hepatosplenomegaly |
OMIM:273680 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
OMIM:214700 |
Acute Myelomonocytic Leukemia |
|
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia |
ORPHA:517 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Pleural effusion, Edema, Ascites |
OMIM:603278 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemoglobin concentrat... |
ORPHA:3202 |
Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
OMIM:601927 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Chronic hemolytic anemia, Elliptocytosis |
OMIM:617948 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia |
OMIM:615285 |
Rh-Null, Amorph Type |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
Mulibrey Nanism |
|
Ascites, Hydrops fetalis |
OMIM:253250 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ascites, Pleural effusion, Single umbilical artery, Polyhydramnios, Hydrops fetalis |
OMIM:616897 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:185020 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia |
OMIM:613090 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Reticulocytopenia, Neutropen... |
OMIM:557000 |
Immunodeficiency 69 |
|
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Thrombocytosis, A... |
OMIM:618963 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Predominantly lower limb lymphedema, Palpebral edema, Nonimmune hydrops fetalis |
OMIM:607823 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
Achondrogenesis, Type Ii |
|
Polyhydramnios, Hydrops fetalis, Edema |
OMIM:200610 |
Mucopolysaccharidosis Type 7 |
|
Ascites, Hydrops fetalis, Splenomegaly, Lymphedema |
ORPHA:584 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Sideroblastic anemia, Splenomegaly, Hypochromia, Poikilocytosis, Anemia, Decreased mean corpuscul... |
OMIM:615234 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... |
OMIM:616860 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia |
OMIM:616649 |
Platyspondylic Dysplasia, Torrance Type |
|
Polyhydramnios, Hydrops fetalis |
ORPHA:85166 |
Gaucher Disease, Perinatal Lethal |
|
Desquamation of skin soon after birth, Ascites, Hepatosplenomegaly, Polyhydramnios, Splenomegaly,... |
OMIM:608013 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Splenomegaly, Reticulocytosis, Nonspherocytic hemolytic anemia, Reduced erythr... |
OMIM:235700 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
Galactosialidosis |
|
Hepatosplenomegaly, Nonimmune hydrops fetalis |
OMIM:256540 |
Formiminoglutamic Aciduria |
|
Anemia, Megaloblastic anemia |
ORPHA:51208 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Ascites, Hepatosplenomegaly, Nonimmune hydrops fetalis, Fetal akinesia sequence, Polyhydramnios |
ORPHA:367 |
Trisomy 1Q |
|
Polyhydramnios, Hydrops fetalis, Increased nuchal translucency |
ORPHA:261344 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Ascites, Pleural effusion, Nonimmune hydrops fetalis |
OMIM:617049 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis |
OMIM:300367 |
Campomelia, Cumming Type |
|
Oligohydramnios, Hydrops fetalis, Lymphedema |
ORPHA:1318 |
Farber Disease |
|
Ascites, Hepatosplenomegaly, Joint swelling, Thrombocytopenia, Anemia, Hydrops fetalis |
ORPHA:333 |
Trisomy 13 |
|
Hydrops fetalis |
ORPHA:3378 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Spherocytosis, Splenomegaly, Reticulocytosis |
OMIM:612653 |
Congenital Syphilis |
|
Extramedullary hematopoiesis, Hepatosplenomegaly, Large placenta, Thrombocytopenia, Anemia, Hydro... |
ORPHA:499009 |
Lethal Congenital Contracture Syndrome 10 |
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Fetal akinesia sequence, Hypoplasia of the thymus, Oligohydramnios, Hydrops fetalis |
OMIM:617022 |
Orthostatic Hypotension 2 |
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Anemia |
OMIM:618182 |
Rh Deficiency Syndrome |
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Stomatocytosis, Hepatosplenomegaly, Oligohydramnios, Reticulocytosis, Macrocytic anemia, Anisocyt... |
ORPHA:71275 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
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Facial edema, Hemophagocytosis, Pancytopenia, Splenomegaly, Anemia |
OMIM:618398 |
Immunodeficiency 21 |
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Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Macular edema, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thr... |
OMIM:616959 |
Familial Pseudohyperkalemia |
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Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia |
ORPHA:90044 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
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Nonimmune hydrops fetalis |
OMIM:618265 |
Combined Oxidative Phosphorylation Deficiency 57 |
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Fetal pleural effusion, Nonimmune hydrops fetalis |
OMIM:620167 |
Gm1-Gangliosidosis, Type I |
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Vacuolated lymphocytes, Hydrops fetalis, Splenomegaly |
OMIM:230500 |
Gm1 Gangliosidosis |
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Hepatosplenomegaly, Hydrops fetalis, Splenomegaly, Premature birth |
ORPHA:354 |
Lymphoproliferative Syndrome 1 |
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Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... |
OMIM:613011 |
Lymphatic Malformation 13 |
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Fetal pericardial effusion, Lymphedema, Ascites, Nonimmune hydrops fetalis, Single umbilical arte... |
OMIM:620244 |
Gaucher Disease Type 3 |
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Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia, Hydrops fetalis, Pericardial effusion |
ORPHA:77261 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
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Increased placental thickness, Hydrops fetalis, Single umbilical artery |
ORPHA:1865 |
Diamond-Blackfan Anemia |
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Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Cardiomyopathy, Familial Hypertrophic, 27 |
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Nonimmune hydrops fetalis |
OMIM:618052 |
Mitochondrial Trifunctional Protein Deficiency 1 |
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Hydrops fetalis, Abnormality of the amniotic fluid |
OMIM:609015 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
Long-Olsen-Distelmaier Syndrome |
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Premature rupture of membranes, Nonimmune hydrops fetalis |
OMIM:620609 |
Osteogenesis Imperfecta, Type Ii |
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Premature birth, Nonimmune hydrops fetalis |
OMIM:166210 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Hypokalemia, Hyperchloriduria, Hyponatremia, Hypochloremia |
OMIM:602522 |
Mosaic Trisomy 9 |
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Oligohydramnios, Single umbilical artery, Polyhydramnios, Asplenia, Hydrops fetalis |
ORPHA:99776 |
Achondrogenesis, Type Ia |
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Polyhydramnios, Hydrops fetalis, Increased nuchal translucency, Absence of stomach bubble on feta... |
OMIM:200600 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
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Ascites, Hydrops fetalis |
OMIM:614091 |
Autoimmune Lymphoproliferative Syndrome |
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Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Autoimmune hemol... |
ORPHA:3261 |
Bartter Syndrome, Type 1, Antenatal |
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Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H... |
OMIM:601678 |
Rh-Null, Regulator Type |
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Stomatocytosis, Hemolytic anemia |
OMIM:268150 |
S-Adenosylhomocysteine Hydrolase Deficiency |
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Hydrops fetalis |
ORPHA:88618 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
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Palpebral edema, Nonimmune hydrops fetalis, Lymphedema |
OMIM:137940 |
Schneckenbecken Dysplasia |
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Polyhydramnios, Nonimmune hydrops fetalis |
OMIM:269250 |
Fraser Syndrome 3 |
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Ascites, Oligohydramnios, Sonographic non-visualized fetal bladder, Nonimmune hydrops fetalis |
OMIM:617667 |
Bartter Syndrome Type 4 |
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Hypomagnesemia, Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level |
ORPHA:89938 |
Gm1 Gangliosidosis Type 1 |
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Hepatosplenomegaly, Abnormal placenta morphology, Hydrops fetalis |
ORPHA:79255 |
Congenital Dyserythropoietic Anemia Type Iii |
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Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... |
ORPHA:98870 |
Fanconi Anemia, Complementation Group V |
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Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Greenberg Dysplasia |
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Hepatosplenomegaly, Large placenta, Increased nuchal translucency, Nonimmune hydrops fetalis, Pol... |
OMIM:215140 |
Congenital Erythropoietic Porphyria |
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Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Nonimmune hydrops... |
ORPHA:79277 |
Autoinflammatory Disease, Systemic, With Vasculitis |
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Periorbital edema, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Thromb... |
OMIM:620376 |
Congenital Disorder Of Glycosylation, Type Ia |
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Nonimmune hydrops fetalis, Thrombocytosis, Pericardial effusion, Abnormality of the amniotic flui... |
OMIM:212065 |
Fibrochondrogenesis 1 |
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Hydrops fetalis |
OMIM:228520 |
Mucopolysaccharidosis, Type Vii |
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Hydrops fetalis, Splenomegaly |
OMIM:253220 |
Bartter Syndrome, Type 2, Antenatal |
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Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypochloremia, I... |
OMIM:241200 |
Lymphedema-Distichiasis Syndrome |
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Predominantly lower limb lymphedema, Chylothorax, Nonimmune hydrops fetalis, Lymphedema |
OMIM:153400 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
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Megaloblastic anemia, Thrombocytopenia, Neutropenia, Hydrops fetalis, Dehydration |
ORPHA:79282 |
Idiopathic Aplastic Anemia |
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Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia |
ORPHA:88 |
Congenital Myopathy 22B, Severe Fetal |
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Ascites, Pleural effusion, Decreased fetal movement, Nonimmune hydrops fetalis, Breech presentati... |
OMIM:620369 |
Hennekam Syndrome |
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Chylothorax, Lymphedema, Ascites, Lymphopenia, Splenomegaly, Pericardial effusion, Hydrops fetalis |
ORPHA:2136 |
Pearson Syndrome |
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Pancytopenia, Reticulocytosis, Splenomegaly, Corneal stromal edema, Neutropenia, Thrombocytopenia... |
ORPHA:699 |
Tafro Syndrome |
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Anasarca, Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Thrombocytop... |
ORPHA:457077 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Lymphedema, Pleural effusion, Nonimmune hydrops fetalis, Periorbital edema, Pericardial effusion |
OMIM:235510 |
Mgat2-Cdg |
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Hydrops fetalis, Impaired lymphocyte transformation with phytohemagglutinin |
ORPHA:79329 |
Hepatoerythropoietic Porphyria |
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Erythroid hyperplasia, Splenomegaly, Nonimmune hydrops fetalis, Hemolytic anemia, Abnormality of ... |
ORPHA:95159 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
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Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production |
OMIM:105600 |
Alg9-Cdg |
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Oligohydramnios, Decreased fetal movement, Thickened nuchal skin fold, Pericardial effusion, Hydr... |
ORPHA:79328 |
Blomstrand Lethal Chondrodysplasia |
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Polyhydramnios, Hydrops fetalis, Premature birth |
ORPHA:50945 |
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
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Cerebral edema, Hydrops fetalis, Splenic cyst |
OMIM:620371 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Fetal distress, Bilateral fetal pyelectasis, Breech presentation, Polyhydramnios, Hydrops fetalis |
OMIM:300868 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
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Polyhydramnios, Hydrops fetalis |
OMIM:616546 |
Multiple Pterygium Syndrome, Escobar Variant |
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Hydrops fetalis, Decreased fetal movement |
OMIM:265000 |
Capillary Malformation-Arteriovenous Malformation |
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Chylothorax, Nonimmune hydrops fetalis, Lymphedema |
ORPHA:137667 |
Mycophenolate Mofetil Embryopathy |
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Hydrops fetalis |
ORPHA:268249 |
Gaucher Disease |
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Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Splenic rupture, Thrombocytopenia, An... |
ORPHA:355 |
Cranioectodermal Dysplasia 2 |
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Polyhydramnios, Hydrops fetalis, Splenomegaly, Polysplenia |
OMIM:613610 |
Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
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Anemia, Edema |
ORPHA:329971 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Hyponatremia, Hyperkalemia, Hypochloremia |
ORPHA:90794 |
Fetal Akinesia Deformation Sequence 1 |
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Small placenta, Increased nuchal translucency, Short umbilical cord, Decreased fetal movement, No... |
OMIM:208150 |
Noonan Syndrome 2 |
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Increased nuchal translucency, Polyhydramnios, Nonimmune hydrops fetalis, Leukemia, Acute lymphob... |
OMIM:605275 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Hydrops fetalis |
OMIM:263520 |
Phocomelia, Schinzel Type |
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Hydrops fetalis |
ORPHA:2879 |
Niemann-Pick Disease Type C |
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Fetal ascites, Ascites, Hepatosplenomegaly, Splenomegaly, Hydrops fetalis, Bone-marrow foam cells |
ORPHA:646 |
Cardiac Valvular Dysplasia 1 |
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Hydrops fetalis, Edema |
OMIM:212093 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Pleural effusion, Nonimmune hydrops fetalis, Single umbilical artery, Thickened nuchal skin fold,... |
OMIM:265380 |
Yunis-Varon Syndrome |
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Polyhydramnios, Hydrops fetalis, Increased nuchal translucency |
ORPHA:3472 |
Generalized Arterial Calcification Of Infancy |
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Fetal distress, Ascites, Polyhydramnios, Hydrops fetalis, Pericardial effusion, Edema |
ORPHA:51608 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hydrops fetalis |
ORPHA:93271 |
Yunis-Varon Syndrome |
|
Polyhydramnios, Hydrops fetalis, Premature birth |
OMIM:216340 |