Atr-16 syndrome |
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Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia-Like |
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Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Diamond-Blackfan Anemia 19 |
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Steroid-responsive anemia, Erythroid hypoplasia, Anemia |
OMIM:618312 |
Transient Erythroblastopenia Of Childhood |
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Anemia, Transient erythroblastopenia |
OMIM:227050 |
Hemoglobin-Delta locus |
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Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Anemia, Sideroblastic, 4 |
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Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
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 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
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Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Heinz Body Anemias |
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Heinz body anemia, Heinz bodies, Nonspherocytic hemolytic anemia |
OMIM:140700 |
Tn Polyagglutination Syndrome |
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Abnormal erythrocyte morphology |
OMIM:300622 |
Diamond-Blackfan Anemia 3 |
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Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Acetophenetidin Sensitivity |
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Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Hemoglobin E-Beta-Thalassemia Syndrome |
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Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Delta-Beta-Thalassemia |
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Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Woronets Trait |
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Red blood cell keratocytosis |
OMIM:194320 |
Hemoglobin D Disease |
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Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... |
ORPHA:90039 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... |
OMIM:619041 |
Dehydrated Hereditary Stomatocytosis 2 |
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Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Hemoly... |
OMIM:616689 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Anisocytosis, Poikilocytosis, Anemia of inadequate production, Oval macrocytosis |
OMIM:603529 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
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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Erythrocyte inclusion bodies, Persistence of hemoglobin F, Microcytic anemia, Increased HbA2 hemo... |
OMIM:603902 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Familial Pseudohyperkalemia |
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Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Intrinsic Factor Deficiency |
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Increased mean corpuscular volume, Increased RBC distribution width, Megaloblastic erythroid hype... |
OMIM:261000 |
Thrombocytopenia 5 |
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Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... |
OMIM:616216 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
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Increased mean corpuscular volume, Pancytopenia, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Diamond-Blackfan Anemia 8 |
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Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612563 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
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Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Alpha-Thalassemia Myelodysplasia Syndrome |
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Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:300448 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
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Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Sickle Cell Anemia |
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Reticulocytosis, Leukocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
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Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
Spherocytosis, Type 3 |
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Spherocytosis, Hemolytic anemia |
OMIM:270970 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Persistence of he... |
OMIM:300946 |
Dehydrated Hereditary Stomatocytosis |
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Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... |
ORPHA:3202 |
Pyropoikilocytosis, Hereditary |
|
Microspherocytosis, Pyropoikilocytosis, Elliptocytosis, Hemolytic anemia |
OMIM:266140 |
Bone Marrow Failure Syndrome 6 |
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Anemia, Persistence of hemoglobin F, Lymphopenia, Increased mean corpuscular volume, Neutropenia |
OMIM:618849 |
Asplenia, Isolated Congenital |
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Howell-Jolly bodies, Asplenia, Thrombocytosis |
OMIM:271400 |
Iron-Refractory Iron Deficiency Anemia |
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Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis |
OMIM:206200 |
Ovalocytosis, Southeast Asian |
|
Elliptocytosis, Hemolytic anemia |
OMIM:166900 |
Oslam Syndrome |
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Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reticulocytosis, Hemolytic anemia, Reduced erythrocyte adenosine triphosphate concentration, Stom... |
OMIM:301083 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass |
OMIM:609820 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Overhydrated Hereditary Stomatocytosis |
|
Reticulocytosis, Hemolytic anemia, Increased mean corpuscular volume, Stomatocytosis, Splenomegaly |
OMIM:185000 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Anemia, Increased mean corpuscular volume, Poikilo... |
ORPHA:98870 |
Cryohydrocytosis |
|
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:185020 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly |
OMIM:222800 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Th... |
OMIM:617021 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Megaloblastic anemia |
OMIM:613839 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Pancytopenia, Macrocytic anemia, Neutropenia |
ORPHA:2169 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Bone Marrow Failure Syndrome 3 |
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Aplastic anemia, Anemia, Persistence of hemoglobin F, Neutropenia, Increased mean corpuscular vol... |
OMIM:617052 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Leukopenia, Aplastic anemia, Anemia, Lymphopenia, Increased mean corpuscular volume, Thrombocytop... |
OMIM:127550 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Macrocytic anemia, Neutropenia |
OMIM:612562 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Aplastic anemia, Leukopenia, Anemia, Leukemia, Chronic neutropenia, Neutropeni... |
ORPHA:811 |
Diamond-Blackfan Anemia |
|
Leukopenia, Pure red cell aplasia, Persistence of hemoglobin F, Neutropenia, Reticulocytopenia, I... |
ORPHA:124 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Diamond-Blackfan Anemia 1 |
|
Persistence of hemoglobin F, Reticulocytopenia, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
Eisenmenger Syndrome |
|
Hypochromic microcytic anemia, Increased mean corpuscular volume, Iron deficiency anemia |
ORPHA:97214 |