Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
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Anemia of inadequate production, Anisocytosis, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Iron-Refractory Iron Deficiency Anemia |
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Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis |
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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Steroid-responsive anemia, Anemia, Erythroid hypoplasia |
OMIM:618312 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Hypertriglyceridemia 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Hemoglobin E-Beta-Thalassemia Syndrome |
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Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Overhydrated Hereditary Stomatocytosis |
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Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Anemia of inadequate production, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Reticulocyto... |
OMIM:615631 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Spl... |
OMIM:616860 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
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Hypochromia, Decreased mean corpuscular volume, Increased circulating ferritin concentration, Ane... |
OMIM:205950 |
Glutathione Peroxidase Deficiency |
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Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
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Anisocytosis, Leukopenia, Erythroid hypoplasia, Macrocytic anemia, Thrombocytosis, Acute myeloid ... |
ORPHA:86841 |
Anemia, Congenital Dyserythropoietic, Type Iv |
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Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
Heinz Body Anemias |
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Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
Hemoglobin D Disease |
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Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Anemia, Congenital Dyserythropoietic, Type Ia |
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Anemia of inadequate production, Hyperbilirubinemia, Splenomegaly, Anisocytosis, Schistocytosis, ... |
OMIM:224120 |
Congenital Dyserythropoietic Anemia Type Iii |
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Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
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Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Chylomicron Retention Disease |
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Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
Hypobetalipoproteinemia, Familial, 1 |
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Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypoc... |
OMIM:615558 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia |
OMIM:619855 |
Rh Deficiency Syndrome |
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Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
Delta-Beta-Thalassemia |
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Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
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Decreased mean corpuscular volume, Anisocytosis, Decreased serum iron, Poikilocytosis, Elliptocyt... |
OMIM:616959 |
Hemoglobin C-Beta-Thalassemia Syndrome |
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Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Orotic Aciduria |
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Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Poikilocytosis, Pyrimidine-r... |
OMIM:258900 |
Hypercholesterolemia, Familial, 4 |
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Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Hyperlipidemia, Familial Combined, 3 |
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Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
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Polycythemia, Reduced erythrocyte 2,3-diphosphoglycerate concentration |
OMIM:102900 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
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Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
Hemolytic Poikilocytic Anemia Due To Reduced Ankyrin Binding Sites |
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Nonspherocytic hemolytic anemia, Poikilocytosis, Elliptocytosis, Heinz body anemia |
OMIM:141700 |
Dominant Beta-Thalassemia |
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Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... |
ORPHA:231226 |
Elliptocytosis 2 |
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Hemolytic anemia, Reticulocytosis, Elliptocytosis, Neonatal hyperbilirubinemia |
OMIM:130600 |
Chylomicron Retention Disease |
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Hypocholesterolemia, Acanthocytosis, Steatorrhea |
ORPHA:71 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
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Anisocytosis |
OMIM:604273 |
Squalene Synthase Deficiency |
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Hypocholesterolemia, Increased circulating farnesol concentration, Decreased LDL cholesterol conc... |
OMIM:618156 |
Peroxisome Biogenesis Disorder 3B |
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Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Pyropoikilocytosis, Hereditary |
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Hemolytic anemia, Pyropoikilocytosis, Elliptocytosis, Microspherocytosis |
OMIM:266140 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Decreased mean corpuscular volume, Leukocytosis, Anisocytosis, Hepatosplenomegaly, Hemolytic anem... |
OMIM:618278 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Steatorrhea, Hypocholesterolemia, Hyperbilirubinemia, Splenomegaly |
OMIM:607765 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
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Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Hepatic Lipase Deficiency |
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Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Acanthocytosis, Decreas... |
ORPHA:96180 |
Sitosterolemia 1 |
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Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Chronic hemolytic anemia, Elevated circ... |
OMIM:210250 |
Potocki-Lupski Syndrome |
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Hypocholesterolemia |
OMIM:610883 |
Hypercholesterolemia, Familial, 3 |
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Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Hypercholesterolemia, Familial, 2 |
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Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Tangier Disease |
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Hepatosplenomegaly, Hypertriglyceridemia, Hypocholesterolemia, Anemia, Thrombocytopenia |
ORPHA:31150 |
Congenital Erythropoietic Porphyria |
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Splenomegaly, Anisocytosis, Leukopenia, Increased erythrocyte protoporphyrin concentration, Hemol... |
ORPHA:79277 |
Abetalipoproteinemia |
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Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steatorrhea, Reticulocytos... |
ORPHA:14 |
Apolipoprotein C-Ii Deficiency |
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Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... |
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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Thrombocytosis, Hypocholesterolemia, Hypoalbuminemia, Steatorrhea |
OMIM:212065 |
Alg12-Cdg |
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B lymphocytopenia, Hypocholesterolemia, Hypoalbuminemia, Hyponatremia, Thrombocytopenia |
ORPHA:79324 |
Secondary Intestinal Lymphangiectasia |
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Reduced circulating transferrin concentration, Lymphopenia, Secondary hyperaldosteronism, Decreas... |
ORPHA:90363 |
Dubowitz Syndrome |
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Hypocholesterolemia, Acute lymphoblastic leukemia, Aplastic anemia |
OMIM:223370 |
Kaufman Oculocerebrofacial Syndrome |
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Hypocholesterolemia |
OMIM:244450 |
Smith-Lemli-Opitz Syndrome |
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Hypocholesterolemia, Elevated 7-dehydrocholesterol, Hypoalbuminemia, Splenomegaly |
OMIM:270400 |