Atr-16 syndrome |
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Abnormal erythrocyte morphology |
DECIPHER:65 |
Methemoglobin Reductase Deficiency |
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Abnormal erythrocyte morphology |
OMIM:250700 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:206100 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
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Hypochromia, Decreased mean corpuscular volume, Hepatosplenomegaly, Sideroblastic anemia, Pyridox... |
OMIM:206000 |
Diamond-Blackfan Anemia-Like |
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Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Hemoglobin D Disease |
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Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Diamond-Blackfan Anemia 19 |
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Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Hypochromia, Decreased mean corpuscular volume, Anemia, Sideroblastic anemia |
OMIM:205950 |
Transient Erythroblastopenia Of Childhood |
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Anemia, Transient erythroblastopenia |
OMIM:227050 |
Diamond-Blackfan Anemia 3 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Dehydrated Hereditary Stomatocytosis 2 |
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Increased mean corpuscular volume, Splenomegaly, Anisopoikilocytosis, Acanthocytosis, Increased m... |
OMIM:616689 |
Intrinsic Factor Deficiency |
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Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
Hemoglobin E Disease |
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Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Diamond-Blackfan Anemia 13 |
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Normocytic anemia, Elevated red cell adenosine deaminase level |
OMIM:615909 |
Hemoglobin-Delta locus |
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Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Anemia, Sideroblastic, 4 |
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Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Familial Pseudohyperkalemia |
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Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis |
ORPHA:90044 |
Elliptocytosis 3 |
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Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
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Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Thalassemia, Beta+, Silent Allele |
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Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
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Persistence of hemoglobin F |
OMIM:141749 |
Heinz Body Anemias |
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Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Overhydrated Hereditary Stomatocytosis |
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Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Diamond-Blackfan Anemia 8 |
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Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Sickle Cell Anemia |
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Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Acetophenetidin Sensitivity |
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Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Oslam Syndrome |
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Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Dehydrated Hereditary Stomatocytosis |
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Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Delta-Beta-Thalassemia |
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Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Woronets Trait |
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Red blood cell keratocytosis |
OMIM:194320 |
Congenital Dyserythropoietic Anemia Type Iii |
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Increased mean corpuscular volume, Anisocytosis, Poikilocytosis, Anemia, Abnormal erythrocyte mor... |
ORPHA:98870 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
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Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
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Nonspherocytic hemolytic anemia |
OMIM:206300 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
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Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
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Congenital hemolytic anemia |
OMIM:235370 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
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Hemolytic anemia |
OMIM:612631 |
6-Phosphogluconolactonase Deficiency |
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Hemolytic anemia |
OMIM:172150 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hypochromia, Decreased mean corpuscular volume, Splenomegaly, Anisocytosis, Hepatosplenomegaly, A... |
OMIM:616860 |
Diamond-Blackfan Anemia 6 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Majeed Syndrome |
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Anemia of inadequate production, Decreased mean corpuscular volume, Hepatosplenomegaly, Microcyti... |
OMIM:609628 |
Beta-Thalassemia |
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Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
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Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
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Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
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Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Spherocytosis, Type 3 |
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Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Methylcobalamin Deficiency Type Cble |
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Pancytopenia, Neutropenia, Increased mean corpuscular volume, Macrocytic anemia |
ORPHA:2169 |
Immunodeficiency 96 |
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Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Pyropoikilocytosis, Hereditary |
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Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Decreased mean corpuscular volume, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia |
OMIM:616959 |
Ovalocytosis, Southeast Asian |
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Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
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Hemolytic anemia, Decreased mean corpuscular volume, Hepatosplenomegaly, Reticulocytosis |
OMIM:611590 |
Iron-Refractory Iron Deficiency Anemia |
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Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Diamond-Blackfan Anemia 7 |
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Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
Erythrocytosis, Familial, 3 |
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Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Erythrocytosis, Familial, 7 |
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Polycythemia, Increased hematocrit |
OMIM:617981 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Decreased mean corpuscular volume, Hepatosplenomegaly, Anisopoikilocytosis, Dysplastic erythropoe... |
ORPHA:300298 |
Erythrocytosis, Familial, 6 |
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Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Refractory Anemia With Excess Blasts |
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Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Thrombocytopenia... |
ORPHA:86839 |
Shwachman-Diamond Syndrome |
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Increased mean corpuscular volume, Neutropenia, Leukopenia, Aplastic anemia, Normocytic anemia, I... |
ORPHA:811 |
Cryohydrocytosis |
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Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Blackfan-Diamond Anemia |
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Increased mean corpuscular volume, Neutropenia, Persistence of hemoglobin F, Leukopenia, Erythroi... |
ORPHA:124 |
Red Cell Permeability Defect |
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Elliptocytosis |
OMIM:179650 |
16Q24.3 Microdeletion Syndrome |
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Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Beta-Thalassemia Intermedia |
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Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Dominant Beta-Thalassemia |
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Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Beta-Thalassemia Major |
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Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... |
OMIM:618278 |
Castleman Disease |
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Decreased mean corpuscular volume, Anemia, Thrombocytopenia |
ORPHA:160 |
Eisenmenger Syndrome |
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Increased mean corpuscular volume, Hypochromic microcytic anemia, Iron deficiency anemia |
ORPHA:97214 |