Hemoglobin E-Beta-Thalassemia Syndrome |
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Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Hemoglobin D Disease |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Iron-Refractory Iron Deficiency Anemia |
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Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Hemoglobin-Delta locus |
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Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... |
OMIM:616860 |
Thalassemia, Beta+, Silent Allele |
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Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
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Persistence of hemoglobin F |
OMIM:141749 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
Hemoglobin H Disease |
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Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Delta-Beta-Thalassemia |
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Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Acetophenetidin Sensitivity |
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Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Overhydrated Hereditary Stomatocytosis |
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Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Hemoglobin E Disease |
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Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Hypobetalipoproteinemia, Familial, 1 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
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Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Hypertriglyceridemia 2 |
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Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Methemoglobinemia, Beta Type |
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Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Methemoglobinemia |
OMIM:617973 |
Pancreatic Lipase Deficiency |
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Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S... |
OMIM:224120 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
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Persistence of hemoglobin F, Splenomegaly, Anemia |
ORPHA:46532 |
Congenital Dyserythropoietic Anemia Type Iii |
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Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... |
OMIM:300908 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Alpha-Thalassemia Myelodysplasia Syndrome |
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Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Maturity-Onset Diabetes Of The Young, Type 14 |
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Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
Congenital Amegakaryocytic Thrombocytopenia |
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Thrombocytopenia, Abnormal hemoglobin, Anemia |
ORPHA:3319 |
Chylomicron Retention Disease |
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Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Hypercholesterolemia, Diabetes mellitus |
OMIM:608320 |
Rh Deficiency Syndrome |
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Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Glycogen Storage Disease Vi |
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Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia |
OMIM:232700 |
Maturity-Onset Diabetes Of The Young, Type 13 |
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Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Diabetes Mellitus, Permanent Neonatal, 4 |
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Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Cyanosis, Transient Neonatal |
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Reticulocytosis, Methemoglobinemia, Anemia |
OMIM:613977 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
Hypertriglyceridemia 1 |
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Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Diabetes Mellitus, Transient Neonatal, 3 |
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Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Orotic Aciduria |
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Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-responsive megaloblastic anemi... |
OMIM:258900 |
Alpha-Thalassemia |
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Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia |
ORPHA:846 |
Morbid Obesity And Spermatogenic Failure |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Increased LDL ... |
OMIM:615703 |
X-Linked Sideroblastic Anemia |
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Anemia, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis |
ORPHA:75563 |
Beta-Thalassemia |
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Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
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Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Sickle Cell Anemia |
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Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... |
ORPHA:232 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Dominant Beta-Thalassemia |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231226 |
Hypercholesterolemia, Familial, 4 |
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Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
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Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Chylomicron Retention Disease |
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Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Diamond-Blackfan Anemia 3 |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Hemochromatosis, Type 4 |
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Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin concentration, Elev... |
OMIM:606069 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnorma... |
ORPHA:96180 |
Hyperlipidemia, Familial Combined, 3 |
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Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosplenomegaly, Hy... |
OMIM:612526 |
Hyperlipoproteinemia, Type V |
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Decreased HDL cholesterol concentration, Diabetes mellitus, Increased VLDL cholesterol concentrat... |
OMIM:144650 |
Glycogen Storage Disease Ixa1 |
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Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Conjugated hyperbilirubinemia, Splenomegaly, Hypocholesterolemia, Steatorrhea |
OMIM:607765 |
Beta-Thalassemia |
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Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... |
ORPHA:848 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
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Anisocytosis |
OMIM:604273 |
Peroxisome Biogenesis Disorder 3B |
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Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
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Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Squalene Synthase Deficiency |
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Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Potocki-Lupski Syndrome |
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Hypocholesterolemia |
OMIM:610883 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... |
OMIM:618278 |
Sitosterolemia 1 |
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Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Tangier Disease |
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Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:31150 |
Bone Marrow Failure Syndrome 6 |
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Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Mody |
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Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu... |
ORPHA:552 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Hb Bart'S Hydrops Fetalis |
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Splenomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Beta-Thalassemia Intermedia |
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Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Diabetes mellitus, Anemia of inadequate ... |
ORPHA:231222 |
Hepatic Lipase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Abetalipoproteinemia |
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Decreased HDL cholesterol concentration, Reticulocytosis, Acanthocytosis, Decreased LDL cholester... |
ORPHA:14 |
Primary Familial Polycythemia |
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Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hypocholesterolemia |
OMIM:618810 |
Congenital Erythropoietic Porphyria |
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Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... |
ORPHA:79277 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
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Methemoglobinemia, Polycythemia |
OMIM:250800 |
Apolipoprotein C-Ii Deficiency |
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Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyperch... |
OMIM:615812 |
Hypercholesterolemia, Familial, 3 |
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Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Alg12-Cdg |
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Hyponatremia, Recurrent hypoglycemia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Th... |
ORPHA:79324 |
Congenital Disorder Of Glycosylation, Type Ia |
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Thrombocytosis, Hypoalbuminemia, Steatorrhea, Hypocholesterolemia |
OMIM:212065 |
Beta-Thalassemia Major |
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Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Diabetes melli... |
ORPHA:231214 |
Hypercholesterolemia, Familial, 2 |
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Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Secondary Intestinal Lymphangiectasia |
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Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... |
ORPHA:90363 |
Diamond-Blackfan Anemia 6 |
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Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Dubowitz Syndrome |
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Acute lymphoblastic leukemia, Aplastic anemia, Hypocholesterolemia |
OMIM:223370 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Microcytic anemia |
ORPHA:98791 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Steatorrhea, Persistence of hemoglobin F,... |
OMIM:260400 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
Lead Poisoning |
|
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... |
ORPHA:330015 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin |
ORPHA:423479 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Bone Marrow Failure Syndrome 3 |
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Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Smith-Lemli-Opitz Syndrome |
|
Splenomegaly, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol concentration, Hypochole... |
OMIM:270400 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Thymoma |
|
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:847 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |