| Hemoglobin D Disease |
|
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... |
ORPHA:90039 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Abnormal bone structure, Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... |
OMIM:603902 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Decreased skull ossification, Abnormal hemoglobin |
ORPHA:3319 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Hemoglobin E Disease |
|
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... |
ORPHA:2133 |
| Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
| Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:231393 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance, Osteoporosis |
OMIM:610947 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young, Elevated hemoglobin A1c |
OMIM:616511 |
| Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Elevated hemoglobin A1c, ... |
OMIM:616329 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... |
ORPHA:251380 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Diamond-Blackfan Anemia 3 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia |
ORPHA:231401 |
| Orthostatic Hypotension 2 |
|
Hypoglycemia, Anemia |
OMIM:618182 |
| Bone Marrow Failure Syndrome 6 |
|
Osteopenia, Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, ... |
OMIM:618849 |
| Beta-Thalassemia |
|
Reduced bone mineral density, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Microc... |
ORPHA:848 |
| Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... |
OMIM:613673 |
| Alpha-Thalassemia |
|
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Hepatosplenomegaly, Splenomegaly,... |
ORPHA:846 |
| Beta-Thalassemia Intermedia |
|
Osteopenia, Reduced bone mineral density, Extramedullary hematopoiesis, Anemia of inadequate prod... |
ORPHA:231222 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Broad-based gait, Increased bone mineral density, Coronal craniosynostosis, Increased HbA2 hemogl... |
OMIM:616943 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:300946 |
| Mody |
|
Neonatal hypoglycemia, Hypoinsulinemia, Glycosuria, Hyperglycemia, Transient neonatal diabetes me... |
ORPHA:552 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
| Sickle Cell Anemia |
|
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... |
ORPHA:232 |
| Dominant Beta-Thalassemia |
|
Hypochromic microcytic anemia, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobi... |
ORPHA:231226 |
| Hereditary Methemoglobinemia |
|
Athetosis, Methemoglobinemia |
ORPHA:621 |
| Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
| Beta-Thalassemia Major |
|
Anisopoikilocytosis, Hypochromic microcytic anemia, Extramedullary hematopoiesis, Decreased mean ... |
ORPHA:231214 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Limb ataxia, Truncal ataxia, Persistence of hemoglobin F, Broad-based gait |
OMIM:617101 |
| Ziegler-Huang Syndrome |
|
Persistence of hemoglobin F, Macrocytic anemia, Neutropenia |
OMIM:620501 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Polycythemia, Methemoglobinemia |
OMIM:250800 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
| Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Reduced bone mineral density, Anemia, Acute myeloid leukemia, Pancytopenia, Incr... |
OMIM:617052 |
| Shwachman-Diamond Syndrome 1 |
|
Anemia, Acute myeloid leukemia, Pancytopenia, Irregular ossification at anterior rib ends, Persis... |
OMIM:260400 |
| Diamond-Blackfan Anemia |
|
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... |
ORPHA:124 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Lead Poisoning |
|
Abnormal T cell morphology, Cranial hyperostosis, Imbalanced hemoglobin synthesis, Anemia |
ORPHA:330015 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Thymoma |
|
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leukemia |
ORPHA:99867 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
| Diamond-Blackfan Anemia 1 |
|
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:105650 |
| Alkaptonuria |
|
Reduced bone mineral density, Hemolytic anemia, Methemoglobinemia |
ORPHA:56 |
| Nephrotic Syndrome, Type 9 |
|
|
OMIM:615573 |
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
|
ORPHA:656 |
