Diamond-Blackfan Anemia 13 |
|
Elevated red cell adenosine deaminase level, Normocytic anemia |
OMIM:615909 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Diamond-Blackfan Anemia 19 |
|
Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive |
|
Hypochromia, Sideroblastic anemia, Hepatosplenomegaly, Decreased mean corpuscular volume, Pyridox... |
OMIM:206000 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Methemoglobin Reductase Deficiency |
|
Abnormal erythrocyte morphology |
OMIM:250700 |
Protoporphyria, Erythropoietic, 2 |
|
Iron deficiency anemia |
OMIM:618015 |
Anemia, Sideroblastic, 1 |
|
Macrocytic anemia, Hypochromic microcytic anemia, Sideroblastic anemia, Anemia of inadequate prod... |
OMIM:300751 |
Chromosome 5Q Deletion Syndrome |
|
Anemia of inadequate production, Refractory macrocytic anemia, Erythroid hypoplasia |
OMIM:153550 |
Delta-Beta-Thalassemia |
|
Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Hemoglobin E Disease |
|
Hypochromia, Hypochromic microcytic anemia, Increased red blood cell count, Abnormal hemoglobin, ... |
ORPHA:2133 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Iron-Refractory Iron Deficiency Anemia |
|
Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia |
OMIM:206200 |
Atransferrinemia |
|
Hypochromic anemia |
OMIM:209300 |
Breath-Holding Spells |
|
Iron deficiency anemia |
OMIM:607578 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Bone marrow hypocellulari... |
ORPHA:98826 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Hemoglobin D Disease |
|
Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Heinz Body Anemias |
|
Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia |
OMIM:140700 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Pulmonary Hemosiderosis |
|
Iron deficiency anemia |
OMIM:178550 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Protoporphyria, Erythropoietic, X-Linked |
|
Iron deficiency anemia |
OMIM:300752 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Splenomegaly, Erythroid hyperplasia, Anemia of inadequate production |
OMIM:237800 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Erythroid hyperplasia, Pappenheimer bodies, Sideroblastic anemia, Hypochromic anemia, Microcytic ... |
OMIM:600462 |
Sickle Cell Anemia |
|
Leukocytosis, Abnormality of the spleen, Thrombocytosis, Increased mean corpuscular volume, Iron ... |
ORPHA:232 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Megaloblastic anemia |
OMIM:243320 |
Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Normochromic anemia, Elevated red cell adenosine deaminase level, Reticulocyto... |
OMIM:615550 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Erythroid hyperplasia, Anemia, Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:613673 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... |
OMIM:224120 |
Pernicious Anemia |
|
Megaloblastic anemia |
OMIM:170900 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Hypochromic anemia |
OMIM:257790 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... |
OMIM:615631 |
Vascular Malformation, Primary Intraosseous |
|
Hypochromic anemia |
OMIM:606893 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Diamond-Blackfan Anemia 3 |
|
Macrocytic anemia, Reticulocytopenia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:610629 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Hypochromic microcytic anemia, Sideroblastic anemia |
OMIM:301310 |
Autoimmune Lymphoproliferative Syndrome |
|
Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Imerslund-Grasbeck Syndrome 2 |
|
Megaloblastic anemia |
OMIM:618882 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Splenomegaly, Anemia of inadequate production |
OMIM:224100 |
Glutamate Formiminotransferase Deficiency |
|
Megaloblastic anemia, Hypersegmentation of neutrophil nuclei |
OMIM:229100 |
Alpha-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Hypersplenism, Microcytic anemia, Hemolytic anemia |
ORPHA:846 |
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 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Microcytic anemia, Hypochromic anemia |
OMIM:618451 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Thrombocytosis, Macrocytic anemia, Leukopenia, Bone marrow hypocellularity, Erythroid hypoplasia,... |
ORPHA:86841 |
Acute Erythroid Leukemia |
|
Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia, Pancytopenia |
ORPHA:318 |
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Thrombocytosis, Macrocytic anemia, Megaloblastic anemia, Decreased circulating antibody level, Ly... |
OMIM:617780 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production |
OMIM:300367 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Neutropenia, Reticulocytopenia, Erythroid hypoplasia |
OMIM:612527 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Intrinsic Factor Deficiency |
|
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume |
OMIM:261000 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Abnormal platelet function, Acute myelomonocytic leukemia, Decreased circulat... |
ORPHA:2585 |
Erythrocytosis, Familial, 8 |
|
Normocytic anemia, Polycythemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia |
OMIM:222800 |
Nephronophthisis |
|
Anemia |
ORPHA:655 |
Reticuloendotheliosis, X-Linked |
|
Hepatosplenomegaly, Anemia |
OMIM:312500 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Normochromic anemia, Hemolytic anemia |
OMIM:245900 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Congenital hypoplastic anemia, Anemia of inadequate production |
OMIM:105600 |
Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia |
OMIM:615715 |
Dehydrated Hereditary Stomatocytosis |
|
Congenital hemolytic anemia, Macrocytic anemia, Schistocytosis, Increased mean corpuscular volume... |
ORPHA:3202 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Normochromic anemia, Splenomegaly, Nonspherocytic hemolytic anemia, Reticulocy... |
OMIM:235700 |
Majeed Syndrome |
|
Erythroid hyperplasia, Hepatosplenomegaly, Microcytic anemia, Decreased mean corpuscular volume, ... |
OMIM:609628 |
Diamond-Blackfan Anemia 5 |
|
Macrocytic anemia, Reticulocytopenia, Leukopenia, Erythroid hypoplasia |
OMIM:612528 |
Acute Monoblastic/Monocytic Leukemia |
|
Leukocytosis, Anemia, Hypochromic anemia, Lymphocytosis, Acute monocytic leukemia |
ORPHA:514 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Increased circulating antibody level, Extramedulla... |
OMIM:615285 |
Formiminoglutamic Aciduria |
|
Megaloblastic anemia, Anemia |
ORPHA:51208 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia |
OMIM:133180 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Reduced natural killer cell activity, Anemia, Hepatosplenomegaly, Granulocytopenia, Hemophagocytosis |
OMIM:608898 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612563 |
Diamond-Blackfan Anemia 16 |
|
Anemia |
OMIM:617408 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Thrombocytosis, Neutropenia, Monocytosis, Congenital agranulocytosis, Anemia, Increased circulati... |
OMIM:202700 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Bone marrow hypocellularity, Acute myeloi... |
OMIM:619041 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
|
Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis |
OMIM:141700 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Iron deficiency anemia, Splenomegaly |
OMIM:616278 |
Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Anemia, Splenomegaly, Anisoc... |
ORPHA:766 |
Refractory Celiac Disease |
|
Macrocytic anemia, Normocytic anemia, Iron deficiency anemia, Increased proportion of HLA DR+ T c... |
ORPHA:398063 |
Fanconi Anemia, Complementation Group T |
|
Pancytopenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity |
OMIM:616435 |
Immunodeficiency 89 And Autoimmunity |
|
Hypochromic microcytic anemia, Increased circulating IgA level, Increased circulating IgG level, ... |
OMIM:619632 |
Jervell And Lange-Nielsen Syndrome |
|
Iron deficiency anemia |
ORPHA:90647 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Imerslund-Grasbeck Syndrome 1 |
|
Megaloblastic anemia |
OMIM:261100 |
Diamond-Blackfan Anemia 20 |
|
Anemia, Erythroid hypoplasia |
OMIM:618313 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Macrocytic anemia |
OMIM:300946 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Microcytic anemia, Splenomegaly |
OMIM:618852 |
Plummer-Vinson Syndrome |
|
Iron deficiency anemia, Hypochromic microcytic anemia |
ORPHA:54028 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Diamond-Blackfan Anemia 11 |
|
Anemia, Neutropenia, Bone marrow hypocellularity, Anemia of inadequate production |
OMIM:614900 |
Wt Limb-Blood Syndrome |
|
Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia |
OMIM:194350 |
Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Schistocytosis, Folate-respons... |
OMIM:601775 |
Orotic Aciduria |
|
Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo... |
OMIM:258900 |
Cryohydrocytosis |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Splenomegaly |
OMIM:185020 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Iron deficiency anemia, Impaired platelet aggregation |
OMIM:618372 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Megaloblastic anemia |
OMIM:601815 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pancytopenia, Thrombocytosis, Hepatosplenomegaly, Microcytic anemia |
OMIM:604416 |
Imerslund-Gräsbeck Syndrome |
|
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... |
ORPHA:35858 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Anisopoikilocytosis, Elevated red cell adenosine deaminase level |
OMIM:102730 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia |
ORPHA:89937 |
Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Thrombocytopenia |
ORPHA:848 |
Blue Rubber Bleb Nevus |
|
Iron deficiency anemia, Thrombocytopenia |
OMIM:112200 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
B lymphocytopenia, Hypochromic microcytic anemia, Schistocytosis, Decreased circulating antibody ... |
OMIM:616084 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Chronic hemolytic anemia, Pyropoikilocytosis, Elliptocytosis |
OMIM:617948 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Anisopoikilocytosis, Increased mean corpuscular volume, Acanthocytosis, Splenomegaly, Increased m... |
OMIM:616689 |
Acquired Von Willebrand Syndrome |
|
Refractory anemia, Normocytic anemia, Hypochromic anemia |
ORPHA:99147 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Thrombocytosis, Decreased circulating antibody level |
OMIM:226300 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... |
OMIM:600903 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of neutrophils, Hypochromic anemia |
ORPHA:2720 |
Glycogen Storage Disease Xii |
|
Normochromic anemia, Normocytic anemia, Nonspherocytic hemolytic anemia, Splenomegaly |
OMIM:611881 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Leukocytosis, Macrocytic anemia, Abnormally low T cell receptor excision circle level, Reduction ... |
OMIM:608203 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Hypochromia, Stomatocytosis, Hepatosplenomegaly, Anisocytosi... |
ORPHA:71275 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Macrocytic anemia |
OMIM:615578 |
Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemoglobin F, Hy... |
ORPHA:231214 |
Spherocytosis, Type 5 |
|
Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly |
OMIM:612690 |
Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Persistence of hemoglobin F, Splenomegaly, Hypersplenism, Hepatosp... |
ORPHA:231226 |
Refractory Anemia With Excess Blasts |
|
Leukocytosis, Abnormal mean corpuscular volume, Bone marrow hypocellularity, Acute myeloid leukem... |
ORPHA:86839 |
Idiopathic Pulmonary Hemosiderosis |
|
Iron deficiency anemia, Hepatosplenomegaly |
ORPHA:99931 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Thrombocytopenia, Neutropenia, Bone marrow hypocellularity |
OMIM:617243 |
Elliptocytosis 2 |
|
Reticulocytosis, Hemolytic anemia, Elliptocytosis |
OMIM:130600 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Splenomegaly, Anemia, Anemia of inadequate production |
OMIM:612714 |
Hamamy Syndrome |
|
Microcytic anemia, Hypochromic anemia |
OMIM:611174 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Autosomal Erythropoietic Protoporphyria |
|
Microcytic anemia |
ORPHA:79278 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Thrombocytopenia, Hypochromic microcytic anemia |
ORPHA:3240 |
Infantile Liver Failure Syndrome 1 |
|
Macrocytic anemia, Anemia |
OMIM:615438 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Anemia, Thrombocytopenia, Leukopenia |
ORPHA:27 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level,... |
OMIM:275350 |
Majeed Syndrome |
|
Leukocytosis, Congenital hypoplastic anemia, Hypochromic microcytic anemia, Splenomegaly |
ORPHA:77297 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Thrombocytopenia, Thiamine-responsive megaloblastic anemia, Sideroblastic anemia |
OMIM:249270 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Microcytic anemia |
OMIM:618811 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hemolytic anemia, Acanthocytosis, Stomatocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, E... |
OMIM:109270 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hypochromic microcytic anemia |
OMIM:619423 |
Blue Rubber Bleb Nevus |
|
Microcytic anemia |
ORPHA:1059 |
Wiskott-Aldrich Syndrome |
|
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Spherocytosis, Type 2 |
|
Acanthocytosis, Splenomegaly, Spherocytosis, Reticulocytosis, Hemolytic anemia |
OMIM:616649 |
Celiac Disease, Susceptibility To, 1 |
|
Iron deficiency anemia, Thrombocytosis, Decreased circulating IgA level, Macrocytic anemia |
OMIM:212750 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Anemia, Hypochromic microcytic anemia |
OMIM:619147 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Abnormal erythrocyte morphology, Megaloblastic anemia, Folate-unresponsive megaloblastic anemia |
ORPHA:2575 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Neutropenia |
OMIM:251900 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... |
OMIM:618213 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:141750 |
Ménétrier Disease |
|
Hypochromic microcytic anemia |
ORPHA:2494 |
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Megaloblastic anemia |
OMIM:250940 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia |
ORPHA:309108 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Megaloblastic anemia |
OMIM:236270 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Sideroblastic anemia |
OMIM:613561 |
Isolated Sedoheptulokinase Deficiency |
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Anemia, Hypochromic microcytic anemia |
ORPHA:440713 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Neutropenia |
ORPHA:1667 |
Beta-Thalassemia Intermedia |
|
Leukocytosis, Erythroid hyperplasia, Persistence of hemoglobin F, Splenomegaly, Hepatosplenomegal... |
ORPHA:231222 |
Diamond-Blackfan Anemia 6 |
|
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F |
OMIM:612561 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Thrombocytopenia, Megaloblastic anemia |
ORPHA:49827 |
Dilated Cardiomyopathy With Ataxia |
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Hypochromic microcytic anemia, Normochromic microcytic anemia |
ORPHA:66634 |
Folate Malabsorption, Hereditary |
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Thrombocytopenia, Neutropenia, Leukopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Microcytic anemia |
OMIM:618805 |
Triosephosphate Isomerase Deficiency |
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Normocytic anemia, Normochromic anemia, Splenomegaly, Chronic hemolytic anemia, Hemolytic anemia |
OMIM:615512 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Iron deficiency anemia |
OMIM:618885 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
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Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Iron deficiency anemia, Spleno... |
ORPHA:37042 |
Dermatitis Herpetiformis |
|
Microcytic anemia |
ORPHA:1656 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Iron deficiency anemia, Asplenia |
OMIM:269200 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Normochromic anemia, Chronic myelomo... |
ORPHA:98849 |
Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Thrombocytopenia, Eosin... |
ORPHA:90045 |
Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia |
OMIM:614294 |
Congenital Disorder Of Glycosylation, Type Iq |
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Microcytic anemia |
OMIM:612379 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Macrocytic anemia, Splenomegaly |
OMIM:619046 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
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Hepatosplenomegaly, Microcytic anemia |
OMIM:619013 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
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HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Aceruloplasminemia |
|
Refractory anemia, Hypochromic microcytic anemia |
ORPHA:48818 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
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Macrocytic anemia, Granulocytopenia |
OMIM:606164 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Acatalasemia |
|
Microcytic anemia |
ORPHA:926 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Microcytic anemia |
OMIM:618972 |
Wolfram Syndrome 1 |
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Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia |
OMIM:222300 |
Peutz-Jeghers Syndrome |
|
Iron deficiency anemia |
OMIM:175200 |
3-Methylglutaconic Aciduria, Type V |
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Normochromic microcytic anemia |
OMIM:610198 |
Pulmonary Arteriovenous Malformation |
|
Iron deficiency anemia |
ORPHA:2038 |
Srd5A3-Cdg |
|
Microcytic anemia |
ORPHA:324737 |
Myopathy With Lactic Acidosis, Hereditary |
|
Sideroblastic anemia |
OMIM:255125 |
Pyridoxal Phosphate-Responsive Seizures |
|
Pyridoxine-responsive sideroblastic anemia |
ORPHA:79096 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Anemia, Reticulocytopenia |
OMIM:613309 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Iron deficiency anemia |
ORPHA:309031 |
Methylcobalamin Deficiency Type Cble |
|
Pancytopenia, Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
ORPHA:2169 |
Neuroendocrine Tumor Of Stomach |
|
Iron deficiency anemia |
ORPHA:100075 |
Cartilage-Hair Hypoplasia |
|
Macrocytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Neutropenia, Conge... |
OMIM:250250 |
Duodenal Neuroendocrine Tumor |
|
Iron deficiency anemia, Increased hematocrit |
ORPHA:100076 |
Niemann-Pick Disease, Type A |
|
Microcytic anemia, Bone-marrow foam cells, Sea-blue histiocytosis, Splenomegaly |
OMIM:257200 |
Klippel-Trénaunay Syndrome |
|
Microcytic anemia |
ORPHA:90308 |
Ileal Neuroendocrine Tumor |
|
Iron deficiency anemia |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Iron deficiency anemia |
ORPHA:100077 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Iron deficiency anemia |
ORPHA:93315 |
Monosomy 22 |
|
Aplasia of the thymus, Hepatosplenomegaly, Hypochromic microcytic anemia |
ORPHA:96123 |
Vexas Syndrome |
|
Macrocytic anemia, Thrombocytopenia |
OMIM:301054 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Megaloblastic anemia, Increased mean corpuscular volume |
OMIM:277410 |
Shwachman-Diamond Syndrome |
|
Chronic neutropenia, Macrocytic anemia, Neutropenia, Normocytic anemia, Leukopenia, Increased mea... |
ORPHA:811 |
Degcags Syndrome |
|
Leukopenia, Iron deficiency anemia, Congenital hypoplastic anemia, Anemia, Abnormal spleen morpho... |
OMIM:619488 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Macrocytic anemia |
ORPHA:98673 |
Blackfan-Diamond Anemia |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Increased mean corpuscu... |
ORPHA:124 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Neutropenia, Increased mean corpuscular volume |
OMIM:612562 |
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion |
|
Iron deficiency anemia |
ORPHA:261584 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Pancytopenia, Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277380 |
Mevalonic Aciduria |
|
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Anemia, Hepatosplenomegaly... |
OMIM:610377 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Thrombocytopenia, Normochromic anemia |
OMIM:618775 |
Kearns-Sayre Syndrome |
|
Sideroblastic anemia |
OMIM:530000 |
Pearson Marrow-Pancreas Syndrome |
|
Refractory sideroblastic anemia |
OMIM:557000 |
Immunodeficiency 47 |
|
Normocytic anemia, Decreased circulating total IgA, Leukopenia, Decreased circulating total IgG, ... |
OMIM:300972 |
Wiskott-Aldrich Syndrome |
|
Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem... |
ORPHA:906 |
Gitelman Syndrome |
|
Iron deficiency anemia |
ORPHA:358 |
Somatostatinoma |
|
Hypochromic microcytic anemia |
ORPHA:97283 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Normochromic anemia, Normocytic anemia |
ORPHA:247691 |
Autoimmune Polyendocrinopathy Type 4 |
|
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Decreased circulating antibody l... |
ORPHA:227990 |
Shwachman-Diamond Syndrome 2 |
|
Thrombocytopenia, Normocytic anemia, Neutropenia |
OMIM:617941 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Leukemia, Monoclonal immunoglobulin M proteinemia, Splenomegaly, Abnormality o... |
ORPHA:33226 |
Ichthyosis And Male Hypogonadism |
|
Hyperchromic macrocytic anemia |
OMIM:308200 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Microcytic anemia |
ORPHA:293967 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
T lymphocytopenia, Microcytic anemia |
ORPHA:2959 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Iron deficiency anemia, Anemia |
ORPHA:79408 |
Non-Functioning Pituitary Adenoma |
|
Anemia of inadequate production |
ORPHA:91349 |
Autoimmune Polyendocrinopathy Type 3 |
|
Macrocytic anemia, Leukopenia, Aplasia/Hypoplasia of the spleen, Decreased circulating antibody l... |
ORPHA:227982 |
Late-Onset Isolated Acth Deficiency |
|
Macrocytic anemia, Eosinophilia, Normocytic anemia |
ORPHA:199299 |
Eisenmenger Syndrome |
|
Iron deficiency anemia, Increased mean corpuscular volume, Hypochromic microcytic anemia |
ORPHA:97214 |
Arthrogryposis Multiplex Congenita 5 |
|
Acanthocytosis, Poikilocytosis, Normocytic anemia |
OMIM:618947 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Neutropenia |
ORPHA:79284 |
Leukocyte Adhesion Deficiency Type Ii |
|
Leukocytosis, Abnormal isohemagglutinin level, Anemia, Neutrophilia, Microcytic anemia |
ORPHA:99843 |
H Syndrome |
|
Hepatosplenomegaly, Microcytic anemia, Histiocytosis |
ORPHA:168569 |
Lesch-Nyhan Syndrome |
|
Megaloblastic anemia |
OMIM:300322 |
Adenohypophysitis |
|
Normochromic anemia |
ORPHA:95512 |
Pituitary Apoplexy |
|
Normochromic anemia |
ORPHA:95613 |
Panhypophysitis |
|
Normochromic anemia |
ORPHA:95513 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia |
OMIM:277400 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Megaloblastic anemia |
ORPHA:79351 |
Sheehan Syndrome |
|
Normochromic anemia |
ORPHA:91355 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Leukopenia, Normochromic anemia, Decreased circulating antibody level, Increas... |
ORPHA:289390 |
Diamond-Blackfan Anemia 1 |
|
Thrombocytosis, Elevated red cell adenosine deaminase level, Neutropenia, Congenital hypoplastic ... |
OMIM:105650 |
Hereditary Hemorrhagic Telangiectasia |
|
Microcytic anemia |
ORPHA:774 |
Igg4-Related Retroperitoneal Fibrosis |
|
Normocytic anemia |
ORPHA:49041 |
Acute Adrenal Insufficiency |
|
Normocytic anemia |
ORPHA:95409 |
Glucagonoma |
|
Acanthocytosis, Normochromic anemia |
ORPHA:97280 |
Addison Disease |
|
Thiamine-responsive megaloblastic anemia, Normocytic anemia |
ORPHA:85138 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Thrombocytopenia, Megaloblastic anemia, Neutropenia |
ORPHA:79282 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating IgA level, Increased circulating IgG level, Splenomegaly, Increased circula... |
OMIM:256040 |
Vipoma |
|
Normochromic anemia |
ORPHA:97282 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Thrombocytopenia, Microcytic anemia, Anemia, Splenomegaly |
OMIM:619525 |
Fanconi Anemia |
|
Thrombocytopenia, Anemia, Pyridoxine-responsive sideroblastic anemia, Leukopenia |
ORPHA:84 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Normocytic anemia, Normochromic anemia, Increased circulating IgG level, Incr... |
ORPHA:91500 |
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation |
|
Megaloblastic anemia |
OMIM:219721 |
Aarskog Syndrome, Autosomal Dominant |
|
Macrocytic anemia |
OMIM:100050 |