Atr-16 syndrome |
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Abnormal erythrocyte morphology |
DECIPHER:65 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
Diamond-Blackfan Anemia 18 |
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Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
Iron-Refractory Iron Deficiency Anemia |
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Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
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 |
Overhydrated Hereditary Stomatocytosis |
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Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... |
ORPHA:3203 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... |
OMIM:615631 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte morphology, Macrocytic anemia, A... |
ORPHA:86841 |
Hemoglobin D Disease |
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Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Rh-Null, Amorph Type |
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Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis |
OMIM:617970 |
Anemia, Sideroblastic, 5 |
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Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
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Neutropenia |
OMIM:617014 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
Neutropenia, Lethal Congenital, With Eosinophilia |
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Eosinophilia, Neutropenia |
OMIM:257100 |
Neutropenia, Severe Congenital, 10, Autosomal Recessive |
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Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
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B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
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Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hepatosplenomegaly, Erythroid hyperplasia, Splenomegaly, Anisocytosis, Hypochromia, Anemia, Decre... |
OMIM:616860 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... |
OMIM:224120 |
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, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
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Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
Refractory Anemia |
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Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... |
ORPHA:98826 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... |
OMIM:300908 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
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Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
Congenital Dyserythropoietic Anemia Type Iii |
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Increased mean corpuscular volume, Abnormal erythrocyte morphology, Anisocytosis, Poikilocytosis,... |
ORPHA:98870 |
X-Linked Severe Congenital Neutropenia |
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Monocytopenia, Neutropenia |
ORPHA:86788 |
Orotic Aciduria |
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Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Thrombocytopenia 5 |
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Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... |
OMIM:616959 |
Diamond-Blackfan Anemia 4 |
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Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Macrocytic anemia |
OMIM:612527 |
Acquired Idiopathic Sideroblastic Anemia |
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Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
Rh Deficiency Syndrome |
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Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... |
ORPHA:71275 |
Chronic Myeloid Leukemia |
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Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
Amegakaryocytic Thrombocytopenia, Congenital, 2 |
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Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
Neutropenia, Severe Congenital, X-Linked |
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Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Immunodeficiency 21 |
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Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Anemia, Neutropenia, B lymphocyt... |
OMIM:614172 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
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Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos... |
OMIM:301310 |
Felty Syndrome |
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Splenomegaly, Neutropenia |
OMIM:134750 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
Pyropoikilocytosis, Hereditary |
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Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis |
OMIM:266140 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
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Anisocytosis |
OMIM:604273 |
Dominant Beta-Thalassemia |
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Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Anisocytosis, Poikilocytosis, ... |
OMIM:618278 |
Congenital Erythropoietic Porphyria |
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Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,... |
ORPHA:79277 |