Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Myelolymphatic Insufficiency |
|
Recurrent bacterial infections, Leukopenia, Hyposegmentation of neutrophil nuclei, Recurrent vira... |
OMIM:310350 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive |
|
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis |
OMIM:619398 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Hemoglobin H Disease |
|
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly |
OMIM:613978 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
|
Recurrent candida infections, Recurrent bacterial infections, T lymphocytopenia |
OMIM:242870 |
Immunodeficiency 34 |
|
Recurrent mycobacterial infections, Severe recurrent varicella |
OMIM:300645 |
Immunodeficiency 30 |
|
Recurrent mycobacterial infections, Recurrent infections |
OMIM:614891 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... |
OMIM:603902 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Splenomegaly |
ORPHA:46532 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... |
OMIM:614868 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Neutrop... |
OMIM:616022 |
Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Failure to thrive, Leukocytosis, Splenomegaly, Hepa... |
OMIM:618963 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections |
OMIM:308220 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Splenomegaly, Anisopoikilocytosis, Acantho... |
OMIM:616689 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Neutrophil Actin Dysfunction |
|
Recurrent bacterial infections |
OMIM:257150 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent otitis media, Recurr... |
OMIM:613501 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Reticulocytosis, Anemia |
OMIM:613977 |
Granulomatous disease with defect in neutrophil chemotaxis |
|
Recurrent staphylococcal infections, Impaired neutrophil killing of staphylococci |
OMIM:233670 |
Dehydrated Hereditary Stomatocytosis |
|
Increased circulating ferritin concentration, Anemia of inadequate production, Increased mean cor... |
ORPHA:3202 |
Intrinsic Factor Deficiency |
|
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Erythrocytosis, Familial, 5 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617907 |
Cd8 Deficiency, Familial |
|
Recurrent bacterial infections, Absence of CD8-positive T cells, Recurrent respiratory infections... |
OMIM:608957 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit |
OMIM:609820 |
Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Recurrent bacterial infections, Hyposegmentation of neutrophil nuc... |
OMIM:245480 |
Erythrocytosis, Familial, 4 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:611783 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Erythrocytosis, Familial, 6 |
|
Polycythemia, Increased hemoglobin, Increased hematocrit |
OMIM:617980 |
Myeloproliferative Syndrome, Transient |
|
Transient myeloproliferative syndrome, Leukocytosis |
OMIM:159595 |
Alpha-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, Hypersplenism |
ORPHA:846 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Recurrent bacter... |
OMIM:202700 |
Erythrocytosis, Familial, 7 |
|
Polycythemia, Increased hematocrit |
OMIM:617981 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... |
ORPHA:90044 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
X-Linked Severe Congenital Neutropenia |
|
Recurrent bacterial infections, Monocytopenia, Neutropenia |
ORPHA:86788 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Immunodeficiency 21 |
|
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... |
OMIM:614172 |
Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Erythrocytosis, Familial, 1 |
|
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit, Splenomegaly |
OMIM:133100 |
Erythrocytosis, Familial, 2 |
|
Increased red blood cell mass, Failure to thrive, Increased hemoglobin, Increased hematocrit |
OMIM:263400 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age |
OMIM:618858 |
Neutropenia, Severe Congenital, X-Linked |
|
Recurrent bacterial infections, Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia |
OMIM:300299 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... |
ORPHA:848 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Immunodeficiency 27A |
|
Histiocytosis, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Weight loss, Hypoa... |
OMIM:209950 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Small for gestational age |
OMIM:606176 |
Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Elevated hemoglobin A1c, Small for gestational age |
OMIM:619278 |
Juvenile Arthritis |
|
Thrombocytosis, Leukocytosis |
OMIM:618795 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
OMIM:206200 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Small for gestational age |
ORPHA:621 |
Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypomethioninemia, Macrocytic ... |
ORPHA:2169 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Leukocytosis, Splenome... |
OMIM:618042 |
Leukocyte Adhesion Deficiency, Type I |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Recurrent bacterial infectio... |
OMIM:116920 |
Eosinophilic Gastroenteritis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Weight loss, H... |
ORPHA:2070 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Hyperhomocystinemia, ... |
OMIM:277410 |
Juvenile Temporal Arteritis |
|
Eosinophilia, Leukocytosis |
ORPHA:26137 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Immunodeficiency 67 |
|
Recurrent staphylococcal infections, Recurrent streptococcal infections, Liver abscess, Transient... |
OMIM:607676 |
Diamond-Blackfan Anemia 12 |
|
Elevated red cell adenosine deaminase level, Normochromic anemia, Reticulocytopenia, Macrocytic a... |
OMIM:615550 |
Acute Monoblastic/Monocytic Leukemia |
|
Lymphocytosis, Leukocytosis, Hypochromic anemia, Acute monocytic leukemia, Weight loss, Anemia |
ORPHA:514 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Recurrent sinusitis, Thrombocytosis, ... |
OMIM:619281 |
Tempi Syndrome |
|
Polycythemia, Increased hematocrit |
ORPHA:284227 |
Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... |
ORPHA:86839 |
Erythrocytosis, Familial, 8 |
|
Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, Normochromic anemia |
OMIM:222800 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Primary Myelofibrosis |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly, Thrombocy... |
ORPHA:824 |
Cinca Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hepatosplenome... |
OMIM:607115 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Hepatosplenomegaly, Recurrent bacterial... |
OMIM:612840 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Failure to thrive, Microcytic anemia |
ORPHA:98791 |
Immunodeficiency 96 |
|
Increased mean corpuscular volume, Increased proportion of gamma-delta T cells |
OMIM:619774 |
Shwachman-Diamond Syndrome |
|
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypoamylasemia, Leukopenia, Ap... |
ORPHA:811 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
Beta-Thalassemia Intermedia |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... |
ORPHA:231222 |
Pericardial Effusion, Chronic |
|
Polycythemia |
OMIM:260900 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decreased HDL cholesterol conce... |
OMIM:618620 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... |
ORPHA:91547 |
Pseudo-Torch Syndrome 3 |
|
Increased circulating ferritin concentration, Anemia, Congenital thrombocytopenia, Leukocytosis |
OMIM:618886 |
Shwachman-Diamond Syndrome 1 |
|
Failure to thrive, Small for gestational age, Persistence of hemoglobin F, Pancytopenia, Neutrope... |
OMIM:260400 |
Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... |
ORPHA:98850 |
Gaisböck Syndrome |
|
Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Increased circulating renin l... |
ORPHA:90041 |
Blackfan-Diamond Anemia |
|
Increased mean corpuscular volume, Neutropenia, Small for gestational age, Persistence of hemoglo... |
ORPHA:124 |
Abcd Syndrome |
|
Polycythemia, Large for gestational age |
OMIM:600501 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Weight loss, ... |
ORPHA:3226 |
Diffuse Alveolar Hemorrhage |
|
Leukocytosis, Anemia, Elevated circulating creatinine concentration, Weight loss, Thrombocytopenia |
ORPHA:90060 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Overweight |
OMIM:619769 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... |
ORPHA:231214 |
Omenn Syndrome |
|
Failure to thrive, Leukocytosis, Splenomegaly, Eosinophilia, Abnormal lymphocyte morphology, Anemia |
ORPHA:39041 |
Unclassified Myelodysplastic Syndrome |
|
Acute myeloid leukemia, Leukocytosis |
ORPHA:98827 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Weight loss, Hypoalbuminemia, Anemia, Lung abscess, Liver abscess |
ORPHA:67 |
Diamond-Blackfan Anemia 7 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612562 |
Cryptogenic Organizing Pneumonia |
|
Weight loss, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
ORPHA:1302 |
Thymoma |
|
Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Weight loss, Leukemia |
ORPHA:99867 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Myeloproliferative disor... |
ORPHA:98849 |
Majeed Syndrome |
|
Failure to thrive, Leukocytosis, Congenital hypoplastic anemia, Splenomegaly, Cachexia, Hypochrom... |
ORPHA:77297 |
Mevalonic Aciduria |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, Fluctuating splenomegal... |
OMIM:610377 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Acute Promyelocytic Leukemia |
|
Leukocytosis, Leukopenia, Pancytopenia, Weight loss, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:520 |
Congenital Enterovirus Infection |
|
Leukocytosis, Hyperammonemia, Leukopenia, Abnormal macrophage morphology, Hypoalbuminemia, Neutro... |
ORPHA:292 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Increased prop... |
OMIM:617099 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
HbH hemoglobin, Obesity, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:141750 |
Hypermanganesemia With Dystonia 1 |
|
Increased total iron binding capacity, Hypermanganesemia, Unconjugated hyperbilirubinemia, Polycy... |
OMIM:613280 |
Lead Poisoning |
|
Increased LDL cholesterol concentration, Small for gestational age, Decreased HDL cholesterol con... |
ORPHA:330015 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Pyomyositis |
|
Sepsis, Recurrent infections, Leukocytosis, Recurrent cutaneous abscess formation |
ORPHA:764 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Decreased mean corpuscular volume, Failure to thrive, Leukocytosis, Anisocytosis, Hepatosplenomeg... |
OMIM:618278 |
Primary Hyperoxaluria Type 1 |
|
Failure to thrive, Abnormality of circulating enzyme level, Hyperoxaluria, Calcinosis, Anemia |
ORPHA:93598 |
Necrotizing Enterocolitis |
|
Leukocytosis, Small for gestational age, Hyponatremia, Neutropenia, Thrombocytopenia |
ORPHA:391673 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Failure to thrive, Leukocytosis, Hypoproteinemia, Splenomegaly, Elevated circulating creatine kin... |
OMIM:615895 |
Sickle Cell Anemia |
|
Leukocytosis, Splenomegaly, Hemolytic anemia, Target cells, Increased red cell sickling tendency |
OMIM:603903 |
Psoriasis 14, Pustular |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis |
OMIM:614204 |
Immunodeficiency 92 |
|
Lymphocytosis, Leukocytosis, B lymphocytopenia, Thrombocytosis, Decreased proportion of class-swi... |
OMIM:619652 |
Hereditary Chronic Pancreatitis |
|
Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:676 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Decreased body weight, Leukocytosis |
ORPHA:51890 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hypokalemia, Leukocytosis, Schistocytosis, Elevated circulating creatinine concentration, Unconju... |
ORPHA:90038 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Failure to thrive, Leukocytosis, Hypochromic anemia, Thrombocytosis, Perianal abscess |
OMIM:618213 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:301040 |
Cogan Syndrome |
|
Thrombocytosis, Anemia, Leukocytosis |
ORPHA:1467 |
Eisenmenger Syndrome |
|
Increased mean corpuscular volume, Elevated circulating C-reactive protein concentration, Brain a... |
ORPHA:97214 |
Duodenal Neuroendocrine Tumor |
|
Increased hematocrit, Iron deficiency anemia |
ORPHA:100076 |
Urachal Cyst |
|
Abscess, Elevated circulating C-reactive protein concentration, Leukocytosis |
ORPHA:488 |