| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Hemoglobin H Disease |
|
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly |
ORPHA:46532 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
| Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Cyanosis, Transient Neonatal |
|
Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly |
OMIM:613977 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
| 3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
| Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia, Decreased glomerular filtration rate |
OMIM:618182 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Hepatomegaly, Hypoglycemia |
OMIM:615158 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
| Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia |
ORPHA:163596 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia |
OMIM:261650 |
| Propionic Acidemia |
|
Hepatomegaly, Organic aciduria, Hypoglycemia, Cardiomyopathy |
ORPHA:35 |
| Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Hypertrophic cardiomy... |
ORPHA:848 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Hypoglycemia, Anemia, Cardiomegaly |
OMIM:618838 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hypoglycemia |
ORPHA:664 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per... |
OMIM:612561 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinemia, Diabetic ketoaci... |
OMIM:262190 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Diabetes mellitus, Anemia ... |
ORPHA:231222 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
| Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Leukocytosis, Sp... |
OMIM:603903 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias |
OMIM:250790 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Nephrocalcinosis, ... |
OMIM:616026 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Hypospadias, Microcytic anemia |
ORPHA:98791 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Persistence of hemoglobi... |
OMIM:260400 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Ventricular septal defect, Hypospadias, Pure red cell aplasia, Erythroid ... |
ORPHA:124 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F, Atrial septal defect, Ventricular septal defect |
OMIM:619769 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Ventricular septal defect, Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcyti... |
OMIM:301040 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
| Thymoma |
|
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leuk... |
ORPHA:99867 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Lead Poisoning |
|
Chronic kidney disease, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Renal tubula... |
ORPHA:330015 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... |
OMIM:105650 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hydronephrosis, Hypoplasia of penis, Abnormal hemoglobin, Anemia |
ORPHA:847 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin |
ORPHA:423479 |
