Eosinophilia, Familial |
|
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia |
OMIM:131400 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Acute Myelomonocytic Leukemia |
|
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia |
ORPHA:517 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Follicular hyperplasia, Splenomegaly... |
OMIM:614470 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Ichthyosis-Prematurity Syndrome |
|
Eosinophilia |
ORPHA:88621 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... |
OMIM:212050 |
Generalized Eruptive Histiocytosis |
|
Leukemia, Hypereosinophilia, Lymphadenopathy, Histiocytosis |
ORPHA:157991 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Myalgia-Eosinophilia Syndrome Associated With Tryptophan |
|
Lymphopenia, Eosinophilia |
ORPHA:2582 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Splenomegaly, Eosinophilia |
OMIM:607685 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Juvenile Temporal Arteritis |
|
Leukocytosis, Eosinophilia |
ORPHA:26137 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Leukocytosis, Anemia |
OMIM:619398 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Dysplasia Of Head Of Femur, Meyer Type |
|
Leukocytosis |
ORPHA:168621 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:611783 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... |
OMIM:619041 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb... |
OMIM:226990 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Cinca Syndrome |
|
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia |
OMIM:607115 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... |
OMIM:601859 |
Kimura Disease |
|
Lymphadenopathy, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin |
OMIM:133100 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Poikilocytosis, Fava bean-induced hemo... |
OMIM:300908 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Aicardi-Goutieres Syndrome 2 |
|
Lymphocytosis |
OMIM:610181 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neutropenia |
OMIM:615387 |
Eosinophilopenia |
|
Decreased eosinophil count |
OMIM:131430 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, S... |
OMIM:224120 |
Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Myeloproliferative Syndrome, Transient |
|
Leukocytosis, Transient myeloproliferative syndrome |
OMIM:159595 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Neut... |
OMIM:618849 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, Autoimmune thro... |
OMIM:603909 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Lymphocytosis |
OMIM:606445 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia |
OMIM:618963 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... |
ORPHA:169154 |
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities |
|
Eosinophilia, Abnormally low T cell receptor excision circle level |
OMIM:618092 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Omenn Syndrome |
|
Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morphology, Anemia |
ORPHA:39041 |
Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
Hyperbilirubinemia, Shunt, Primary |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production, Erythroid hyperplasia |
OMIM:237800 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Esophagitis, Eosinophilic, 1 |
|
Eosinophilia |
OMIM:610247 |
Esophagitis, Eosinophilic, 2 |
|
Eosinophilia |
OMIM:613412 |
Eosinophilic Gastroenteritis |
|
Leukocytosis, Eosinophilia, Anemia |
ORPHA:2070 |
Wells Syndrome |
|
Eosinophilia |
ORPHA:901 |
Immunodeficiency 11B With Atopic Dermatitis |
|
Eosinophilia |
OMIM:617638 |
Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
Myelolymphatic Insufficiency |
|
Leukopenia, Hyposegmentation of neutrophil nuclei |
OMIM:310350 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Lymphadenopathy, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Autoimmune thrombocytopenia, Lymphadenopathy, Anemia, Coombs-positive hemolytic ane... |
OMIM:304790 |
Omenn Syndrome |
|
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hypoplas... |
OMIM:603554 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 |
|
Eosinophilia |
OMIM:253600 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Refractory Anemia |
|
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... |
ORPHA:98826 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Cyclic Neutropenia |
|
Cyclic neutropenia |
OMIM:162800 |
Eosinophilic Fasciitis |
|
Abnormal eosinophil morphology, Eosinophilia |
ORPHA:3165 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia |
OMIM:615285 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... |
ORPHA:75564 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:263400 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... |
ORPHA:911 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
Fanconi Anemia, Complementation Group G |
|
Thrombocytopenia, Leukemia, Anemia, Neutropenia |
OMIM:614082 |
Immunodeficiency 25 |
|
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia |
OMIM:610163 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Lymphade... |
ORPHA:331206 |
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections |
|
Eosinophilia |
OMIM:618523 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hemophagocytosis, Granulocytopenia, Anemia, Hepatosplenomegaly |
OMIM:608898 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Whim Syndrome 2 |
|
Chronic neutropenia |
OMIM:619407 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Immunodeficiency 50 |
|
Lymphopenia, Neutropenia |
OMIM:300988 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal eosinophil morphology |
ORPHA:724 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Eosinophilia, Cutaneous abscess |
OMIM:147060 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Hereditary Folate Malabsorption |
|
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia |
ORPHA:90045 |
Acute Erythroid Leukemia |
|
Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocellularity, Anemia |
ORPHA:318 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Immunodeficiency 49 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... |
OMIM:617237 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly |
ORPHA:169160 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Orotic Aciduria |
|
Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis |
OMIM:179700 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
O'Sullivan-Mcleod Syndrome |
|
Eosinophilia |
ORPHA:99965 |
Glutamate-Cysteine Ligase Deficiency |
|
Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis |
ORPHA:33574 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lymph node hypopl... |
OMIM:602450 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Neutropenia |
OMIM:616022 |
Peeling Skin Syndrome 1 |
|
Eosinophilia |
OMIM:270300 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Bone Marrow Failure Syndrome 2 |
|
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia |
OMIM:615715 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Neutropenia |
ORPHA:90023 |
Neutropenia, Chronic Familial |
|
Neutropenia |
OMIM:162700 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilia, Hepatosplenomegaly |
OMIM:618999 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Reticulocytosis, Anemia of inadequate production |
OMIM:224100 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased mean corpuscular volume, Elliptocytosis, Poikilocytosis, Anemia |
OMIM:616959 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia |
OMIM:603552 |
Roifman Syndrome |
|
Splenomegaly, Eosinophilia, Lymphadenopathy |
OMIM:616651 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
Roifman Syndrome |
|
Lymphadenopathy, Eosinophilia, Hepatosplenomegaly |
ORPHA:353298 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
Hypermanganesemia With Dystonia 1 |
|
Polycythemia |
OMIM:613280 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612126 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Leukocytosis, Hypereosinophilia |
ORPHA:2902 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
Acute Generalized Exanthematous Pustulosis |
|
Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia |
OMIM:243700 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia |
OMIM:133180 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... |
OMIM:159550 |
Acute Monoblastic/Monocytic Leukemia |
|
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... |
ORPHA:514 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Neutropenia |
ORPHA:70592 |
Diamond-Blackfan Anemia 4 |
|
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia |
OMIM:612527 |
Immunodeficiency 46 |
|
Neutropenia, Anemia, Intermittent thrombocytopenia |
OMIM:616740 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil chemotaxis, Lymphadenitis, Neutrop... |
OMIM:618986 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Pontocerebellar Hypoplasia, Type 15 |
|
Thrombocytopenia, Chronic neutropenia, Anemia |
OMIM:619302 |
Cyclic Neutropenia |
|
Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Lymphadenopathy, Decreased eosino... |
ORPHA:2686 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia |
OMIM:617388 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis |
ORPHA:90064 |
Pgm3-Cdg |
|
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... |
ORPHA:443811 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Sterile abscess, Eosinophilia, Cutaneous abscess |
OMIM:618282 |
Folate Malabsorption, Hereditary |
|
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia |
OMIM:229050 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis |
ORPHA:79087 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis, Bone marrow hypocellularity |
ORPHA:98827 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Schnitzler Syndrome |
|
Splenomegaly, Leukocytosis, Anemia, Lymphadenopathy |
ORPHA:37748 |
Livedoid Vasculopathy |
|
Leukocytosis, Pancytopenia, Polycythemia, Anemia |
ORPHA:542643 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnormal lymph node... |
OMIM:612840 |
Thrombocythemia 2 |
|
Thrombocytosis |
OMIM:601977 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia |
OMIM:615816 |
Glutamate Formiminotransferase Deficiency |
|
Hypersegmentation of neutrophil nuclei, Megaloblastic anemia |
OMIM:229100 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Neutropenia |
OMIM:610798 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Fanconi Anemia, Complementation Group V |
|
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Thrombocytopenia |
ORPHA:848 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Eosinophilia, Lymphocytosis, Lymphadenopathy |
ORPHA:139402 |
Phosphoglycerate Kinase 1 Deficiency |
|
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis |
OMIM:300653 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... |
OMIM:102700 |
Spherocytosis, Type 4 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:612653 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Absent circulating B cells, Abnormal T cell morphology |
OMIM:613501 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis |
OMIM:616649 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Lymphocytosis, Hemophagocytosis, Ne... |
OMIM:308240 |
Allergic Bronchopulmonary Aspergillosis |
|
Abnormal eosinophil morphology |
ORPHA:1164 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia |
OMIM:616738 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
Wolfram Syndrome, Mitochondrial Form |
|
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia |
OMIM:598500 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... |
OMIM:150550 |
Autoimmune Lymphoproliferative Syndrome |
|
Reticulocytosis, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy... |
ORPHA:3261 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormal lymph node morphology, Anemia |
ORPHA:54251 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Iga Pemphigus |
|
Eosinophilia, Cutaneous abscess |
ORPHA:555905 |
Transcobalamin Deficiency |
|
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia |
ORPHA:859 |
Loeffler Endocarditis |
|
Eosinophilia |
ORPHA:75566 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Agammaglobulinemia 7, Autosomal Recessive |
|
Reduced natural killer cell count, Neutropenia |
OMIM:615214 |
Spherocytosis, Type 1 |
|
Splenomegaly, Hemolytic anemia, Spherocytosis, Reticulocytosis |
OMIM:182900 |
Igg4-Related Aortitis |
|
Hypereosinophilia |
ORPHA:449400 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Nonspherocytic hemolytic a... |
OMIM:235700 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Lymphopenia, Eosinophilia |
OMIM:617425 |
Aspergillosis |
|
Eosinophilia, Neutropenia |
ORPHA:1163 |
Harderoporphyria |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:618892 |
Hemochromatosis, Type 3 |
|
Lymphopenia, Anemia, Neutropenia |
OMIM:604250 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Immunodeficiency 89 And Autoimmunity |
|
Decreased eosinophil count, Hypochromic microcytic anemia |
OMIM:619632 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopathy, Myeloprol... |
ORPHA:3226 |
Acute Panmyelosis With Myelofibrosis |
|
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... |
ORPHA:86843 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Lymphadenopathy |
OMIM:611762 |
Netherton Syndrome |
|
Hypereosinophilia |
OMIM:256500 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Primary Myelofibrosis |
|
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... |
ORPHA:824 |
Poems Syndrome |
|
Thrombocytosis, Polycythemia, Lymphadenopathy |
ORPHA:2905 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
Thrombotic Thrombocytopenic Purpura |
|
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:54057 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... |
OMIM:266200 |
Dohle Bodies And Leukemia |
|
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia |
OMIM:223350 |
Imerslund-Gräsbeck Syndrome |
|
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... |
ORPHA:35858 |
Pseudo-Torch Syndrome 3 |
|
Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia |
OMIM:618886 |
Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... |
ORPHA:86839 |
Cystic Echinococcosis |
|
Eosinophilia, Abscess, Peritoneal abscess, Splenic cyst |
ORPHA:400 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis |
OMIM:611590 |
Immunodeficiency 92 |
|
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Lymphocyt... |
OMIM:619652 |
Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
Tularemia |
|
Brain abscess, Mediastinal lymphadenopathy, Leukocytosis, Cervical lymphadenopathy, Lymphadenopat... |
ORPHA:3392 |
Alveolar Echinococcosis |
|
Liver abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Cutaneous abscess |
ORPHA:284 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
Idiopathic Aplastic Anemia |
|
Pancytopenia, Reticulocytopenia, Anemia, Bone marrow hypocellularity, Neutropenia, Thrombocytopenia |
ORPHA:88 |
Agammaglobulinemia 4, Autosomal Recessive |
|
Neutropenia, Abnormal T cell morphology |
OMIM:613502 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis |
OMIM:618042 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center, Neutropenia |
OMIM:606843 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Eosinophilia |
ORPHA:2314 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... |
ORPHA:288 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Macrocytic anemia, Eosinophilia |
ORPHA:199299 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... |
ORPHA:101096 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari... |
OMIM:127550 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Neutropenia |
OMIM:617056 |
Von Hippel-Lindau Syndrome |
|
Polycythemia |
OMIM:193300 |
Idiopathic Hypereosinophilic Syndrome |
|
Neutrophilia, Generalized lymphadenopathy, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenome... |
ORPHA:3260 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hemophagocytosis, ... |
OMIM:301078 |
Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... |
ORPHA:158057 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Splenomegaly, Thrombocytopenia, Anemia, Neutropenia |
ORPHA:79312 |
Aggressive Systemic Mastocytosis |
|
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy,... |
ORPHA:98850 |
Angiostrongyliasis |
|
Hypereosinophilia |
ORPHA:74 |
Agammaglobulinemia 10, Autosomal Dominant |
|
Transient neutropenia, Absent circulating B cells |
OMIM:619707 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Increased red... |
OMIM:194380 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Thrombocytopenia, Anemia, Neutropenia |
ORPHA:289916 |
Megaloblastic Anemia, Folate-Responsive |
|
Episodic hemolytic anemia, Schistocytosis, Folate-responsive megaloblastic anemia, Hypersegmentat... |
OMIM:601775 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia |
OMIM:616949 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
3-Methylglutaconic Aciduria, Type Viia |
|
Anisopoikilocytosis, Anemia, Neutropenia |
OMIM:619835 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Polycythemia |
ORPHA:309854 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Leukopenia, Poikilocytosis, Erythr... |
ORPHA:79277 |
Fumarase Deficiency |
|
Polycythemia |
OMIM:606812 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Reticulocytosis |
OMIM:232800 |
Hereditary Spherocytosis |
|
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... |
ORPHA:822 |
Mucoepithelial Dysplasia, Hereditary |
|
Eosinophilia |
OMIM:158310 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Letterer-Siwe Disease |
|
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly |
OMIM:246400 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Eosinophilia |
ORPHA:183 |
Onychotrichodysplasia And Neutropenia |
|
Lymphocytosis, Chronic neutropenia, Neutropenia |
OMIM:258360 |
Igg4-Related Pachymeningitis |
|
Lymphadenitis, Eosinophilia |
ORPHA:449427 |
Sickle Cell Disease |
|
Hemolytic anemia, Splenomegaly, Leukocytosis, Splenic infarction, Increased red cell sickling ten... |
OMIM:603903 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Cinca Syndrome |
|
Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal granulocyte mor... |
ORPHA:1451 |
Incontinentia Pigmenti |
|
Leukocytosis, Eosinophilia |
OMIM:308300 |
Macrophage Activation Syndrome |
|
Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cel... |
ORPHA:158061 |
Neutropenia, Severe Congenital, 8, Autosomal Dominant |
|
Neutropenia |
OMIM:618752 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Thrombocytopenia, Bone marrow hypocellularity, Anemia, Neutropenia |
OMIM:614520 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Leukocytosis, Lymphadenopathy, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:520 |
Muckle-Wells Syndrome |
|
Leukocytosis |
OMIM:191900 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Leukocytosis |
OMIM:120100 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
|
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis |
OMIM:300367 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Diffuse Cutaneous Mastocytosis |
|
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Lymphadenopathy |
ORPHA:79456 |
Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro... |
ORPHA:508533 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy |
OMIM:617099 |
Adult-Onset Still Disease |
|
Generalized lymphadenopathy, Neutrophilia, Splenomegaly, Leukocytosis, Bone marrow hypocellularity |
ORPHA:829 |
Thrombocytopenia-Absent Radius Syndrome |
|
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia |
OMIM:274000 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
Diffuse Alveolar Hemorrhage |
|
Thrombocytopenia, Leukocytosis, Anemia |
ORPHA:90060 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Perianal abscess, Iron deficiency anemia, Lymphocytosis, Thrombocytosis, Reduced natural killer c... |
OMIM:301074 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... |
OMIM:260400 |
Lymphatic Filariasis |
|
Lymphadenitis, Hypereosinophilia, Lymphadenopathy |
ORPHA:2035 |
Felty Syndrome |
|
Splenomegaly, Lymphadenopathy, Anemia, Bone marrow hypocellularity, Neutropenia, Abnormal lymphoc... |
ORPHA:47612 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Diamond-Blackfan Anemia 11 |
|
Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia |
OMIM:614900 |
Herpes Simplex Virus Encephalitis |
|
Leukocytosis, Neutrophilia |
ORPHA:1930 |
Wolcott-Rallison Syndrome |
|
Iron deficiency anemia, Lymphocytosis, Neutropenia |
ORPHA:1667 |
Neonatal Lupus Erythematosus |
|
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:398124 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagocytosis, Neutro... |
ORPHA:158048 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased proportion of class-switched memory B cells, B lymphocytopenia, Absent circulating B ce... |
OMIM:619705 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia |
ORPHA:292 |
Transcobalamin Ii Deficiency |
|
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia |
OMIM:275350 |
Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Perianal abscess, Leukocytosis, Bone marrow hypocellularity, Abnormality ... |
ORPHA:2968 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... |
OMIM:617718 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Von Hippel-Lindau Disease |
|
Polycythemia |
ORPHA:892 |
Igg4-Related Submandibular Gland Disease |
|
Eosinophilia, Lymphadenopathy |
ORPHA:449432 |
Kasabach-Merritt Syndrome |
|
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... |
ORPHA:2330 |
High Altitude Pulmonary Edema |
|
Leukocytosis |
ORPHA:330012 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:274150 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Majeed Syndrome |
|
Splenomegaly, Leukocytosis, Hypochromic microcytic anemia, Congenital hypoplastic anemia |
ORPHA:77297 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:235400 |
Beta-Thalassemia Major |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
Incontinentia Pigmenti |
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Eosinophilia |
ORPHA:464 |
Coccidioidomycosis |
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Eosinophilia, Abscess, Abnormality of the spleen, Mediastinal lymphadenopathy, Lymphadenopathy, G... |
ORPHA:228123 |
Hereditary Chronic Pancreatitis |
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Leukocytosis |
ORPHA:676 |
Elliptocytosis 1 |
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Splenomegaly, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
Chediak-Higashi Syndrome |
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Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Lymphaden... |
OMIM:214500 |
Pyropoikilocytosis, Hereditary |
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Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
16Q24.3 Microdeletion Syndrome |
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Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Wiskott-Aldrich Syndrome |
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Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... |
ORPHA:906 |
Spherocytosis, Type 3 |
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Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Amoebiasis Due To Entamoeba Histolytica |
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Leukocytosis, Liver abscess, Lung abscess, Anemia |
ORPHA:67 |
Thymoma |
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Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Methylmalonic Aciduria, Cblb Type |
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Thrombocytopenia, Pancytopenia, Anemia, Neutropenia |
OMIM:251110 |
Sweet Syndrome |
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Acute myeloid leukemia, Neutrophilia, Leukocytosis, Chronic lymphatic leukemia, Anemia, Sterile a... |
ORPHA:3243 |
Anterior Cutaneous Nerve Entrapment Syndrome |
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Leukocytosis |
ORPHA:51890 |
Diamond-Blackfan Anemia 1 |
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Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
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Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Leukocyt... |
OMIM:243150 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
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Leukocytosis, Thrombocytopenia |
ORPHA:83601 |
Sarcoidosis |
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Hemolytic anemia, Eosinophilia, Increased T cell count, Lymphadenopathy, Anemia, Leukopenia, Abno... |
ORPHA:797 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
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Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... |
ORPHA:508542 |
Lig4 Syndrome |
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Leukocytosis, Lymphadenopathy, Pancytopenia, Acute leukemia |
ORPHA:99812 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
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HbH hemoglobin |
ORPHA:423479 |
Immunodeficiency 67 |
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Liver abscess, Transient neutropenia |
OMIM:607676 |
Mevalonic Aciduria |
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Normocytic hypoplastic anemia, Fluctuating splenomegaly, Leukocytosis, Hepatosplenomegaly, Anemia... |
OMIM:610377 |
Staphylococcal Necrotizing Pneumonia |
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Leukopenia, Leukocytosis, Neutrophilia |
ORPHA:36238 |
Cogan Syndrome |
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Thrombocytosis, Leukocytosis, Anemia |
ORPHA:1467 |
Ogden Syndrome |
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Iron deficiency anemia, Polycythemia, Thrombocytopenia |
OMIM:300855 |
Ovalocytosis, Southeast Asian |
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Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Igg4-Related Ophthalmic Disease |
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Eosinophilia, Lymphadenopathy |
ORPHA:449563 |
Kikuchi-Fujimoto Disease |
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Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Lymphadenopathy, Anemia, Leu... |
ORPHA:50918 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
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Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Thrombocytop... |
OMIM:613989 |
Ivic Syndrome |
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Leukocytosis, Thrombocytopenia |
ORPHA:2307 |
Immunodeficiency 55 |
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Absent natural killer cells, Lymphopenia, Lymphadenopathy, Neutropenia |
OMIM:617827 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Necrotizing Enterocolitis |
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Leukocytosis, Thrombocytopenia, Neutropenia |
ORPHA:391673 |
Lead Poisoning |
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Imbalanced hemoglobin synthesis, Anemia, Abnormal T cell morphology |
ORPHA:330015 |
Hyper-Igd Syndrome |
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Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenitis, Hepatosplenomegaly, Lymphadenopathy |
OMIM:260920 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Splenomegaly, Leukocytosis, Lymphadenitis, Lymphadenopathy, Anemia |
OMIM:615895 |
Pyomyositis |
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Recurrent cutaneous abscess formation, Leukocytosis |
ORPHA:764 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Brain abscess, Polycythemia, Anemia |
OMIM:600376 |
Autoinflammatory Disease, Systemic, X-Linked |
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Neutropenia, B lymphocytopenia, Hepatosplenomegaly |
OMIM:301081 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Perianal abscess, Thrombocytosis, Leukocytosis, Hypochromic anemia |
OMIM:618213 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
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Splenomegaly, Neutrophilia, Abscess |
OMIM:612852 |
Beckwith-Wiedemann Syndrome |
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Splenomegaly, Polycythemia |
ORPHA:116 |
Sepsis In Premature Infants |
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Splenomegaly, Leukocytosis, Anemia, Neutropenia, Thrombocytopenia |
ORPHA:90051 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Reticulocytosis, Leukocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:90038 |
Osteopetrosis, Autosomal Recessive 5 |
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Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an... |
OMIM:259720 |
Systemic Capillary Leak Syndrome |
|
Leukocytosis |
ORPHA:188 |
Igg4-Related Kidney Disease |
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Lymphadenitis, Eosinophilia, Lymphadenopathy |
ORPHA:449395 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
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Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Lymphadenopathy, Leukopenia, Bone m... |
OMIM:615688 |
Urachal Cyst |
|
Leukocytosis, Abscess |
ORPHA:488 |
Leukocyte Adhesion Deficiency, Type I |
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Leukocytosis, Rectal abscess |
OMIM:116920 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
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Brain abscess, Polycythemia, Anemia |
OMIM:187300 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Abnormal hemoglobin, Anemia |
ORPHA:847 |
Cushing Disease |
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Decreased eosinophil count, Leukocytosis, Lymphopenia |
ORPHA:96253 |
Tropical Endomyocardial Fibrosis |
|
Splenomegaly, Eosinophilia |
ORPHA:75565 |
Familial Mediterranean Fever |
|
Splenomegaly, Leukocytosis, Neutrophilia |
OMIM:249100 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Generalized Pustular Psoriasis |
|
Leukocytosis, Lymphopenia |
ORPHA:247353 |
Leukocyte Adhesion Deficiency Type Ii |
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Leukocytosis, Neutrophilia, Anemia, Microcytic anemia |
ORPHA:99843 |
Agammaglobulinemia 1, Autosomal Recessive |
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B lymphocytopenia, Rectal abscess, Neutropenia |
OMIM:601495 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Paroxysmal Nocturnal Hemoglobinuria |
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Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... |
ORPHA:447 |
Nk-Cell Enteropathy |
|
Increased T cell count |
ORPHA:263665 |
Primary Sclerosing Cholangitis |
|
Splenomegaly, Histiocytosis, Abnormal eosinophil morphology, Hepatosplenomegaly |
ORPHA:171 |
Caroli Syndrome |
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Liver abscess, Hypersplenism, Leukocytosis, Leukopenia, Thrombocytopenia |
ORPHA:480520 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Decreased eosinophil count, Leukocytosis, Lymphopenia, Abnormal lymph node morphology |
ORPHA:99889 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Splenomegaly, Anemia, Bone marrow hypocellularity, Neutropenia, Hy... |
ORPHA:699 |
Dermatomyositis |
|
Abnormal eosinophil morphology |
ORPHA:221 |
Viss Syndrome |
|
Hypereosinophilia |
OMIM:619472 |
Eisenmenger Syndrome |
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Iron deficiency anemia, Brain abscess, Hypochromic microcytic anemia, Increased mean corpuscular ... |
ORPHA:97214 |
Abetalipoproteinemia |
|
Reticulocytosis, Anemia, Acanthocytosis |
ORPHA:14 |
Marburg Hemorrhagic Fever |
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Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Lymphadenopathy, Leukopenia,... |
ORPHA:99826 |
Yellow Fever |
|
Leukocytosis, Neutrophilia, Thrombocytopenia |
ORPHA:99829 |
Liver Disease, Severe Congenital |
|
Thrombocytopenia, Splenomegaly, Leukopenia, Lymphocytosis, Anemia |
OMIM:619991 |
Crimean-Congo Hemorrhagic Fever |
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Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Leukopenia, Thrombocytop... |
ORPHA:99827 |