Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Anisocytosis, Poikilocytosis, Oval macrocytosis, Anemia of inadequate production |
OMIM:603529 |
Iron-Refractory Iron Deficiency Anemia |
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Anisocytosis, Poikilocytosis, Hypochromic microcytic anemia, Elevated hepcidin level |
OMIM:206200 |
Atr-16 syndrome |
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Abnormal erythrocyte morphology |
DECIPHER:65 |
Methemoglobin Reductase Deficiency |
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Abnormal erythrocyte morphology |
OMIM:250700 |
Diamond-Blackfan Anemia 19 |
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Anemia, Steroid-responsive anemia, Erythroid hypoplasia |
OMIM:618312 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Increased serum iron, Congenital hemolytic anemia, Reduced red cell pyruvate kinase level, Unconj... |
ORPHA:766 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Hypertriglyceridemia 2 |
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Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Hemoglobin E-Beta-Thalassemia Syndrome |
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Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:205950 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Erythroid hyperplasia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Macrocytic dy... |
OMIM:224120 |
Overhydrated Hereditary Stomatocytosis |
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Stomatocytosis, Abnormal mean corpuscular volume, Splenomegaly, Anisocytosis, Reticulocytosis, He... |
ORPHA:3203 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Erythroid hyperplasia, Anemia, Splenomegaly, Anisocytosis, Poikilocytosis, Reticulocytosis, Anemi... |
OMIM:615631 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hypochromia, Erythroid hyperplasia, Elevated hepatic iron concentration, Anemia, Splenomegaly, In... |
OMIM:616860 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Glutathione Peroxidase Deficiency |
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Heinz bodies, Compensated hemolytic anemia, Neonatal hyperbilirubinemia |
OMIM:614164 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Thrombocytosis, Macrocytic anemia, Leukopenia, Erythroid hypoplasia, Acute myeloid leukemia, Anis... |
ORPHA:86841 |
Heinz Body Anemias |
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Heinz bodies, Heinz body anemia, Nonspherocytic hemolytic anemia |
OMIM:140700 |
Hemoglobin D Disease |
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Reduced alpha/beta synthesis ratio, Imbalanced hemoglobin synthesis, Sickled erythrocytes, Anemia... |
ORPHA:90039 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Leukocytosis, Unconjugated hyperbilirubinemia, Decreased glucose-6-phosphate dehydrogenase level ... |
OMIM:300908 |
Congenital Dyserythropoietic Anemia Type Iii |
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Increased serum iron, Increased mean corpuscular volume, Anemia, Hyperbilirubinemia, Anisocytosis... |
ORPHA:98870 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypocholesterolemia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Chylomicron Retention Disease |
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Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... |
OMIM:246700 |
Sitosterolemia 2 |
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Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Delta-Beta-Thalassemia |
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Microcytic anemia, Anemia, Abnormal hemoglobin |
ORPHA:231237 |
Rh Deficiency Syndrome |
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Hemolytic anemia, Reduced haptoglobin level, Macrocytic anemia, Hypochromia, Stomatocytosis, Hype... |
ORPHA:71275 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Anemia, Decreased serum iron, Anisocytosis, Poikilocytosis, Decreased mean corpuscular volume, El... |
OMIM:616959 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Splenomegaly, Persistence of hemoglobin F, Microcytic anemia, Erythrocyte inclusion bodies, Decre... |
OMIM:603902 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Microcytic anemia, Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Hypercholesterolemia, Familial, 4 |
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Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Orotic Aciduria |
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Hypochromia, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megaloblastic anemia, Folate-unr... |
OMIM:258900 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hyperlipidemia, Familial Combined, 3 |
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Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Hypocholesterolemia, Decreased LDL cholesterol concentration |
OMIM:616834 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
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Anisopoikilocytosis, Elevated red cell adenosine deaminase level, Stomatocytosis, Hyperuricemia, ... |
OMIM:102730 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Anisocytosis, Poikilocytosis, Chronic hemolytic anemia, Reticulocytosis, Decreased mean corpuscul... |
OMIM:618278 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
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Poikilocytosis, Heinz body anemia, Nonspherocytic hemolytic anemia, Elliptocytosis |
OMIM:141700 |
Dominant Beta-Thalassemia |
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Abnormality of iron homeostasis, Hypochromic microcytic anemia, Splenomegaly, Persistence of hemo... |
ORPHA:231226 |
Elliptocytosis 2 |
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Reticulocytosis, Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia |
OMIM:130600 |
Chylomicron Retention Disease |
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Hypocholesterolemia, Steatorrhea, Acanthocytosis |
ORPHA:71 |
Squalene Synthase Deficiency |
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Hypocholesterolemia, Decreased LDL cholesterol concentration, Increased circulating farnesol conc... |
OMIM:618156 |
Pyropoikilocytosis, Hereditary |
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Hemolytic anemia, Pyropoikilocytosis, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Sitosterolemia 1 |
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Stomatocytosis, Episodic hemolytic anemia, Elevated circulating sitosterol concentration, Splenom... |
OMIM:210250 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
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Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... |
OMIM:605814 |
Peroxisome Biogenesis Disorder 3B |
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Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Hypocholesterolemia, Steatorrhea, Hyperbilirubinemia, Splenomegaly |
OMIM:607765 |
Hepatic Lipase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Elevated circulating creatine kinase concentration, Hypocholesterolemia, Acanthocytosis, Abetalip... |
ORPHA:96180 |
Solute carrier family 4 (anion exchanger), member 1 |
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Hemolytic anemia, Acanthocytosis, Stomatocytosis, Hyperbilirubinemia, Splenomegaly, Reticulocytos... |
OMIM:109270 |
Potocki-Lupski Syndrome |
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Hypocholesterolemia |
OMIM:610883 |
Hypercholesterolemia, Familial, 3 |
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Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Ataxia With Vitamin E Deficiency |
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Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Tangier Disease |
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Hypocholesterolemia, Anemia, Hepatosplenomegaly, Hypertriglyceridemia, Thrombocytopenia |
ORPHA:31150 |
Hypercholesterolemia, Familial, 2 |
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Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Congenital Erythropoietic Porphyria |
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Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Leukopenia, Erythroid hyperplasia, Sp... |
ORPHA:79277 |
Abetalipoproteinemia |
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Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Abnormal circulatin... |
ORPHA:14 |
Apolipoprotein C-Ii Deficiency |
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Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprotein C-... |
OMIM:207750 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hypocholesterolemia |
OMIM:618810 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hypocholesterolemia, Thrombocytosis, Hypoalbuminemia |
OMIM:212065 |
Alg12-Cdg |
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Hyponatremia, B lymphocytopenia, Hypocholesterolemia, Hypoalbuminemia, Thrombocytopenia |
ORPHA:79324 |
Secondary Intestinal Lymphangiectasia |
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Decreased prealbumin level, Reduced circulating transferrin concentration, Hypocholesterolemia, S... |
ORPHA:90363 |
Kaufman Oculocerebrofacial Syndrome |
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Hypocholesterolemia |
OMIM:244450 |
Smith-Lemli-Opitz Syndrome |
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Hypocholesterolemia, Elevated 7-dehydrocholesterol |
OMIM:270400 |