Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration |
ORPHA:231249 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Hemoglobin D Disease |
|
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... |
ORPHA:90039 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Diamond-Blackfan Anemia 19 |
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Anemia, Erythroid hypoplasia, Steroid-responsive anemia |
OMIM:618312 |
Acetophenetidin Sensitivity |
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Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Transient Erythroblastopenia Of Childhood |
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Anemia, Transient erythroblastopenia |
OMIM:227050 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Hemoglobin H Disease |
|
Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Beta-Thalassemia, Dominant Inclusion Body Type |
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Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Incre... |
OMIM:603902 |
Anemia, Sideroblastic, 4 |
|
Sideroblastic anemia, Abnormal erythrocyte morphology |
OMIM:182170 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin |
ORPHA:231393 |
Erythrocytosis, Familial, 8 |
|
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... |
OMIM:222800 |
Erythrocytosis, Familial, 3 |
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Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:609820 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... |
ORPHA:79506 |
Erythrocytosis, Familial, 7 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617981 |
Erythrocytosis, Familial, 6 |
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Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617980 |
Hemoglobin E Disease |
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Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... |
ORPHA:2133 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Erythrocytosis, Familial, 5 |
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Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:617907 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Persistence of hemoglobin F |
ORPHA:46532 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Glutathione Peroxidase Deficiency |
|
Compensated hemolytic anemia, Neonatal hyperbilirubinemia, Heinz bodies |
OMIM:614164 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Erythrocytosis, Familial, 4 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia |
OMIM:611783 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Sideroblastic anemia, Hypochromia, Anemia, Elevated... |
OMIM:205950 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Heinz Body Anemias |
|
Heinz bodies, Nonspherocytic hemolytic anemia, Heinz body anemia |
OMIM:140700 |
Cyanosis, Transient Neonatal |
|
Anemia, Methemoglobinemia, Reticulocytosis |
OMIM:613977 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... |
OMIM:610629 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... |
OMIM:263300 |
Sitosterolemia 2 |
|
Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... |
ORPHA:251380 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia |
ORPHA:231401 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis |
OMIM:603529 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating iron concentration, Reduced red cell pyruvate kinase level, Increased circu... |
ORPHA:766 |
Erythrocytosis, Familial, 1 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Splenomegaly, Increased red... |
OMIM:133100 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Elevated circulating hepcidin concentration, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Hypercholesterolemia, Familial, 4 |
|
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:603813 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased circulating iron concentration, Erythroid hyperplasia, Hypochromia, Elevated hepatic ir... |
OMIM:206100 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... |
OMIM:301083 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato... |
OMIM:613673 |
Hyperlipidemia, Familial Combined, 3 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Diamond-Blackfan Anemia 12 |
|
Reticulocytopenia, Normochromic anemia, Macrocytic anemia, Elevated red cell adenosine deaminase ... |
OMIM:615550 |
Sitosterolemia 1 |
|
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Xanthelasma, Reticulocytosis, Splen... |
OMIM:210250 |
Dehydrated Hereditary Stomatocytosis |
|
Neonatal hyperbilirubinemia, Increased mean corpuscular volume, Polycythemia, Increased mean corp... |
ORPHA:3202 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... |
OMIM:300946 |
Beta-Thalassemia |
|
Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormality of ir... |
ORPHA:848 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hypoalbuminemia, Increased total bilirubin, Splenomegaly, Increased serum bile acid concentration... |
OMIM:619868 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Alpha-Thalassemia |
|
Extramedullary hematopoiesis, Microcytic anemia, Hemoglobin Barts, Hepatosplenomegaly, Hypersplen... |
ORPHA:846 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Decreased HD... |
OMIM:615703 |
Rh-Null, Amorph Type |
|
Stomatocytosis, Hyperbilirubinemia, Reticulocytosis, Anisocytosis, Hemolytic anemia |
OMIM:617970 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia |
OMIM:618849 |
Cryohydrocytosis |
|
Pseudohyperkalemia, Stomatocytosis, Splenomegaly, Reticulocytosis, Hemolytic anemia |
OMIM:185020 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis, Elliptocytosis |
OMIM:130600 |
Erythrocytosis, Familial, 2 |
|
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass |
OMIM:263400 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... |
OMIM:616689 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Splenomegaly, Abnormal hemoglobin |
ORPHA:163596 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Splenomegaly, Hyperuricemia, Hypertriglyceridemia |
OMIM:306000 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Elevated hemoglobin A1c |
OMIM:616511 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Anemia of inadequate production, Elliptocytosis |
OMIM:166910 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Hypocalcemia, Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:612526 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Hemolytic anemia |
OMIM:616649 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Splenomegaly, Hypertriglyceridemia |
ORPHA:75234 |
Apolipoprotein C-Ii Deficiency |
|
Increased circulating chylomicron concentration, Splenomegaly, Decreased circulating apolipoprote... |
OMIM:207750 |
Pyropoikilocytosis, Hereditary |
|
Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis, Elliptocytosis |
OMIM:266140 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatosplenomegaly, Increased LDL cholesterol concentration, Splenomegaly, Elevated circulating c... |
OMIM:616828 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Sickle Cell Anemia |
|
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... |
ORPHA:232 |
Analbuminemia |
|
Hypoalbuminemia, Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulat... |
OMIM:616000 |
Familial Pseudohyperkalemia |
|
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... |
ORPHA:90044 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomeg... |
OMIM:278000 |
Ziegler-Huang Syndrome |
|
Neutropenia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:620501 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Increased C-peptide level, Hypercholesterolemia, Hyperammonemia |
OMIM:620211 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatosplenomegaly, Hyperbilirubinemia, Hyperthreoninemia, Increased LDL cholesterol concentratio... |
ORPHA:247598 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Cog4-Cdg |
|
Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia |
ORPHA:263501 |
Beta-Thalassemia Intermedia |
|
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, Erythroid hyperpla... |
ORPHA:231222 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular volume |
OMIM:616943 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Increased circulating chylomicron concentration, Hepatosplenomegaly, Hyperlipid... |
OMIM:238600 |
Gaisböck Syndrome |
|
Increased red blood cell count, Increased mean corpuscular hemoglobin concentration, Increased he... |
ORPHA:90041 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypermethioninemia, Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemi... |
OMIM:605814 |
Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
Microcytic anemia, HbH hemoglobin |
ORPHA:98791 |
Dominant Beta-Thalassemia |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231226 |
Galactokinase Deficiency |
|
Hepatosplenomegaly, Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma |
ORPHA:79237 |
Beta-Thalassemia Major |
|
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomega... |
ORPHA:231214 |
Shwachman-Diamond Syndrome 1 |
|
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:260400 |
Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia |
ORPHA:254531 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:617101 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal erythrocyte enzyme con... |
ORPHA:264580 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Splenomegaly, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertrig... |
ORPHA:79240 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Citrullinemia Type Ii |
|
Hypoalbuminemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Acute hyperammonemia, H... |
ORPHA:247585 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... |
ORPHA:567548 |
Lead Poisoning |
|
Imbalanced hemoglobin synthesis, Increased LDL cholesterol concentration, Abnormal T cell morphol... |
ORPHA:330015 |
Lysinuric Protein Intolerance |
|
Abnormal circulating serine concentration, Hemophagocytosis, Increased circulating ferritin conce... |
ORPHA:470 |
Bone Marrow Failure Syndrome 3 |
|
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... |
OMIM:617052 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Thymoma |
|
Leukemia, Pure red cell aplasia, Aplastic anemia, Imbalanced hemoglobin synthesis |
ORPHA:99867 |
Diamond-Blackfan Anemia |
|
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... |
ORPHA:124 |
Ataxia With Vitamin E Deficiency |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:277460 |
Immunodeficiency 47 |
|
Accessory spleen, Normocytic anemia, Leukopenia, Splenomegaly, Hypercholesterolemia, Thrombocytop... |
OMIM:300972 |
Congenital Analbuminemia |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia, Hypoproteinemia, Increased alpha-globulin |
ORPHA:86816 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... |
ORPHA:64753 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Leukocytosis, Hypercholesterolemia |
ORPHA:90065 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Lysosomal Acid Lipase Deficiency |
|
Hyperkalemia, Hepatosplenomegaly, Hypersplenism, Xanthelasma, Hyponatremia, Hypercholesterolemia,... |
ORPHA:275761 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilir... |
OMIM:619662 |
Dysbetalipoproteinemia |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia,... |
ORPHA:412 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia |
ORPHA:528 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:2457 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Diamond-Blackfan Anemia 1 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami... |
OMIM:105650 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:847 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Xanthelasma, Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Anemia, A... |
ORPHA:79259 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:301040 |
Primary Biliary Cholangitis |
|
Hypoalbuminemia, Abnormal circulating lipid concentration, Xanthelasma, Splenomegaly, Hypercholes... |
ORPHA:186 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hypercholesterolemia, Hyperammonemia |
OMIM:620454 |
Prader-Willi Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:176270 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Neonatal hyperbilirubinemia, Hypercholesterolemia |
ORPHA:90674 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammone... |
ORPHA:534 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:151660 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, Hypercholesterolemia, Calcinosis |
OMIM:248370 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Alkaptonuria |
|
Methemoglobinemia, Hemolytic anemia |
ORPHA:56 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated amniotic fluid alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hy... |
OMIM:309000 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating creatinine co... |
OMIM:619534 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |