| Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin |
ORPHA:231249 |
| Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
| Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
| Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617907 |
| Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
| Erythrocytosis, Familial, 4 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:611783 |
| Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
| Polycythemia Vera |
|
Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen... |
OMIM:263300 |
| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
| Erythrocytosis, Familial, 1 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin, Splenomegaly |
OMIM:133100 |
| Dehydrated Hereditary Stomatocytosis |
|
Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Congenital hemoly... |
ORPHA:3202 |
| Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
| Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F |
ORPHA:46532 |
| Anemia, Sideroblastic, 5 |
|
Anemia, Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Neutropenia |
OMIM:619523 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Decreased skull ossification |
ORPHA:3319 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated re... |
OMIM:613673 |
| Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva... |
ORPHA:766 |
| Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
| Chronic Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia |
ORPHA:529799 |
| Erythrocytosis, Familial, 2 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:263400 |
| Glycogen Storage Disease Vi |
|
Hypoglycemia, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Hemoglobin H Disease |
|
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:613978 |
| Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
| Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231393 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Neutropenia, Hyponatremia |
OMIM:616949 |
| Hemoglobin E Disease |
|
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi... |
ORPHA:2133 |
| Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
| Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
| Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
| Tempi Syndrome |
|
Increased hematocrit, Polycythemia |
ORPHA:284227 |
| Hyperbilirubinemia, Shunt, Primary |
|
Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate production, Sple... |
OMIM:237800 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, ... |
OMIM:615751 |
| Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level... |
OMIM:618858 |
| Gaisböck Syndrome |
|
Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... |
ORPHA:90041 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Hypercholesterolemia |
OMIM:608320 |
| Sickle Cell Anemia |
|
Osteomyelitis, Hemolytic anemia, Unconjugated hyperbilirubinemia, Reticulocytosis, Persistence of... |
ORPHA:232 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Neuroleptic Malignant Syndrome |
|
Hyperphosphatemia, Hyperuricemia, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kinas... |
ORPHA:94093 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Diabetes mellitus... |
OMIM:613845 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
| Primary Familial Polycythemia |
|
Abnormal hemoglobin, Polycythemia |
ORPHA:90042 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... |
OMIM:610582 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
| Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia |
OMIM:143860 |
| Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity, Polycy... |
OMIM:613280 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
| Hypoadrenocorticism, Familial |
|
Hypoglycemia, Hyperkalemia, Hyponatremia |
OMIM:240200 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyperkalemia, Increased circulating renin level, Increased circulating 18-hydroxycortisone level,... |
OMIM:610600 |
| Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Splenomegaly, Reticulocytosis |
OMIM:179700 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Increase... |
OMIM:267700 |
| Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Hypoglycemic seizures,... |
ORPHA:199296 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Increased LDL cholesterol concentration, Decreased... |
OMIM:615703 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620126 |
| Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Anemia, Reticulocytosis |
OMIM:613977 |
| Exudative Vitreoretinopathy 7 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment |
OMIM:617572 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:620125 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Hy... |
OMIM:606176 |
| Glucose-Galactose Malabsorption |
|
Hypernatremia, Hypercalcemia |
ORPHA:35710 |
| Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Hypoglycemia, Neonatal hyperb... |
ORPHA:3008 |
| Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hypoglycemia, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
OMIM:306000 |
| Beta-Thalassemia |
|
Anemia, Abnormality of iron homeostasis, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly, Mic... |
ORPHA:848 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia |
ORPHA:3225 |
| Familial Drusen |
|
Macular drusen, Hypoautofluorescent macular lesion, Hyperautofluorescent macular lesion, Macular ... |
ORPHA:75376 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Insulin resistance, Hepatosplenomegaly, Diabetes mellitus, Hypercholesterolemia, Hypocalcemia, Hy... |
OMIM:612526 |
| Exudative Vitreoretinopathy 3 |
|
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment |
OMIM:605750 |
| Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper... |
OMIM:616689 |
| Sitosterolemia 1 |
|
Stomatocytosis, Hypercholesterolemia, Anemia, Reduced haptoglobin level, Arthritis, Reticulocytos... |
OMIM:210250 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia |
OMIM:304800 |
| Immunodeficiency 105 |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
OMIM:619924 |
| Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:301083 |
| Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic... |
ORPHA:251380 |
| Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
| Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hypoglycemia, Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
OMIM:614736 |
| Growth Hormone Insensitivity Syndrome |
|
Type II diabetes mellitus, Insulin resistance, Diabetes mellitus, Hypoglycemia, Hypercholesterolemia |
ORPHA:181393 |
| Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:616511 |
| Late-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Hypon... |
ORPHA:556037 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... |
OMIM:144250 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Splenom... |
OMIM:619868 |
| Familial Pseudohyperkalemia |
|
Stomatocytosis, Hyperkalemia, Reticulocytosis, Episodic hemolytic anemia, Increased mean corpuscu... |
ORPHA:90044 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Increased circul... |
OMIM:603553 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia |
OMIM:615508 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ... |
OMIM:618838 |
| Late-Onset Isolated Acth Deficiency |
|
Generalized bone demineralization, Hyperuricemia, Normocytic anemia, Decreased circulating cortis... |
ORPHA:199299 |
| Webb-Dattani Syndrome |
|
Hypernatremia |
OMIM:615926 |
| Glycogen Storage Disease Vii |
|
Increased total bilirubin, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hyperuricemi... |
OMIM:232800 |
| Early-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Hyperkalemia, Increased circulating renin level, Hypon... |
ORPHA:556030 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:203400 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperaldosteronism, Hyperkalemia, Increased circulating renin level, Hyponatremia |
OMIM:177735 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal circulating porphyrin concentration, Abnormal erythrocyte enzyme level, Increased erythr... |
ORPHA:100924 |
| Alpha-Thalassemia |
|
Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:846 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Reduced natural killer cell count, Anemia, Osteomyelitis, T lymphocytopenia, B lymphocytopenia, O... |
OMIM:619381 |
| Hepatocellular Carcinoma |
|
Anemia, Type II diabetes mellitus, Hypokalemia, Hyperbilirubinemia, Polycythemia, Hypoglycemia, T... |
ORPHA:88673 |
| Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon... |
OMIM:300539 |
| Intermediate Osteopetrosis |
|
Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Hypocalcemia, ... |
ORPHA:210110 |
| Glut1 Deficiency Syndrome 2 |
|
Reduced haptoglobin level, Hemolytic anemia, Splenomegaly, Reticulocytosis |
OMIM:612126 |
| Beta-Thalassemia Intermedia |
|
Increased susceptibility to fractures, Abnormality of iron homeostasis, Increased HbA2 hemoglobin... |
ORPHA:231222 |
| Necrotizing Enterocolitis |
|
Abnormal glucose homeostasis, Leukocytosis, Hyponatremia, Hyperglycemia, Thrombocytopenia, Neutro... |
ORPHA:391673 |
| Mirage Syndrome |
|
Leukopenia, Anemia, Radial club hand, Hyperkalemia, Lymphopenia, Hypoglycemia, Thrombocytopenia, ... |
OMIM:617053 |
| Neonatal Hemochromatosis |
|
Hypoglycemia, Increased circulating ferritin concentration, Increased serum iron |
ORPHA:446 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremia |
ORPHA:223 |
| Hereditary Coproporphyria |
|
Abnormal circulating porphyrin concentration, Anemia, Hyponatremia |
ORPHA:79273 |
| Spherocytosis, Type 2 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Acanthocytosis, Spherocytosis |
OMIM:616649 |
| Elliptocytosis 2 |
|
Elliptocytosis, Neonatal hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
OMIM:130600 |
| Livedoid Vasculopathy |
|
Anemia, Abnormal circulating lipid concentration, Hyperhomocystinemia, Polycythemia, Pancytopenia... |
ORPHA:542643 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hemolytic anemia, Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular vo... |
OMIM:611590 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:610021 |
| B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Increased B cell count, Splenomegaly |
OMIM:616452 |
| Spherocytosis, Type 4 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:612653 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia |
ORPHA:231401 |
| Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Lymphocytosis, Hyperbilirubinemia, Hyperammonemia, ... |
ORPHA:1667 |
| Herpes Simplex Virus Encephalitis |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hyponatremia |
ORPHA:1930 |
| Abcd Syndrome |
|
Polycythemia |
OMIM:600501 |
| Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
| Hyperkalemic Periodic Paralysis |
|
Flexion contracture, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentratio... |
ORPHA:682 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
| Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
| Poems Syndrome |
|
Sclerosis of foot bone, Polycythemia, Diabetes mellitus, Thrombocytosis, Sclerosis of hand bone, ... |
ORPHA:2905 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra... |
OMIM:616828 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperaldosteronism, Hyperkalemia, Hyponatremia |
OMIM:264350 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Osteomyelitis, Hyperkalemia, Increased cir... |
ORPHA:171876 |
| Bone Marrow Failure Syndrome 6 |
|
Anemia, Lymphopenia, Persistence of hemoglobin F, Osteopenia, Increased mean corpuscular volume, ... |
OMIM:618849 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Increased B cell count, Increased proportion of memory T cells, Hepatosplenomegaly |
OMIM:618982 |
| Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia |
OMIM:300971 |
| Osteopetrosis, Autosomal Recessive 4 |
|
Anemia, Recurrent fractures, Increased bone mineral density, Reticulocytosis, Thrombocytopenia, O... |
OMIM:611490 |
| Alg8-Cdg |
|
Thrombocytopenia, Camptodactyly, Anemia, Hyponatremia |
ORPHA:79325 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Unconjugated hyperbilirubinemia, Fava bean-induced hemolytic anemia, Reticulocytosi... |
OMIM:300908 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyseryth... |
OMIM:224120 |
| Orthostatic Hypotension 2 |
|
Anemia, Hypoglycemia |
OMIM:618182 |
| Spherocytosis, Type 1 |
|
Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly, Spherocytosis |
OMIM:182900 |
| Fumarase Deficiency |
|
Hyperbilirubinemia, Polycythemia |
OMIM:606812 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis, Splenomegaly |
OMIM:185000 |
| Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Hyperbilirubinemia, Reticulocytosis, Nonspherocytic hemolytic anemia, Splenome... |
OMIM:235700 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Erythroid hyperplasia, Reticulocytosi... |
OMIM:266200 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Thrombocytopenia, Leukocytosis, Hyponatremia |
ORPHA:83601 |
| Renal Hypoplasia, Bilateral |
|
Glycosuria, Anemia, Hyperkalemia, Hyponatremia |
ORPHA:97362 |
| Snakebite Envenomation |
|
Thrombocytopenia, Hyponatremia |
ORPHA:449285 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Splenomegaly, Increased total iron binding capacity, Hyperglycinemia, Polycythemia, Abnormal tran... |
ORPHA:309854 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Reticulocytosis,... |
ORPHA:90038 |
| Addison Disease |
|
Generalized bone demineralization, Hyperuricemia, Normocytic anemia, Decreased circulating cortis... |
ORPHA:85138 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen... |
OMIM:314050 |
| Central Diabetes Insipidus |
|
Hyponatremia |
ORPHA:178029 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Hypoglycemia, Hyponatremia |
OMIM:608688 |
| Harderoporphyria |
|
Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Neonatal hyperbi... |
OMIM:618892 |
| Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
| Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
| Acute Interstitial Pneumonia |
|
Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circulating C-reactiv... |
ORPHA:79126 |
| Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
| Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost... |
OMIM:241520 |
| Whipple Disease |
|
Anemia, Arthritis, Insulin resistance, Hyponatremia, Splenomegaly |
ORPHA:3452 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Abnormal platelet count, Abnormal leukocyte count, Splenomegal... |
OMIM:612690 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia |
OMIM:214700 |
| Colchicine Poisoning |
|
Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Leukocytosis, Hyponatremia, Hypo... |
ORPHA:31824 |
| Acute Adrenal Insufficiency |
|
Hyperuricemia, Normocytic anemia, Decreased circulating cortisol level, Hyperkalemia, Increased c... |
ORPHA:95409 |
| Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia |
ORPHA:75234 |
| Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Hyperostosis frontalis interna, Diabetes mellitus, Hypercholesterolemia, Osteoporo... |
ORPHA:77296 |
| Posttransplant Acute Limbic Encephalitis |
|
Hyponatremia |
ORPHA:163921 |
| Shigellosis |
|
Arthritis, Microangiopathic hemolytic anemia, Abnormal blood ion concentration, Hypoglycemia, Leu... |
ORPHA:810 |
| Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Hepatosplenomegaly,... |
ORPHA:79237 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Splenomegaly |
ORPHA:664 |
| Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly |
ORPHA:33574 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Anemia, Ketotic hypoglycemia, Elevated circulating creatine kinase concentration, Osteoporosis, R... |
ORPHA:79240 |
| Apolipoprotein C-Ii Deficiency |
|
Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia, Increased circulat... |
OMIM:207750 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia |
ORPHA:91354 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:618620 |
| Hereditary Elliptocytosis |
|
Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia... |
ORPHA:288 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Increased mean corpuscular volume, Elevated red cell adenosine deaminase level, Macrocytic anemia... |
OMIM:300946 |
| Thrombotic Thrombocytopenic Purpura |
|
Thrombocytopenia, Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis |
ORPHA:54057 |
| Pituitary Apoplexy |
|
Increased circulating cortisol level, Hypoglycemia, Normochromic anemia, Hyponatremia |
ORPHA:95613 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Hypoglycemia, Elevated circulating creatinine concentration, Pancy... |
OMIM:617872 |
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
Anemia of inadequate production, Splenomegaly, Reticulocytosis |
OMIM:224100 |
| Combined Oxidative Phosphorylation Deficiency 40 |
|
Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ... |
OMIM:618835 |
| Combined Oxidative Phosphorylation Deficiency 42 |
|
Anemia, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase ... |
OMIM:618839 |
| Rh Deficiency Syndrome |
|
Stomatocytosis, Reduced haptoglobin level, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis,... |
ORPHA:71275 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Joint hypermobility, Hypercholesterolemia |
ORPHA:254531 |
| Hartsfield Syndrome |
|
Hypernatremia, Craniosynostosis |
OMIM:615465 |
| Alg12-Cdg |
|
Abnormal bone ossification, B lymphocytopenia, Camptodactyly, Recurrent hypoglycemia, Hyponatremi... |
ORPHA:79324 |
| Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Leukopenia, Hyperostosis cranialis interna, Increased bone mineral density, Myelofibrosis, Refrac... |
OMIM:231095 |
| Cholera |
|
Hypokalemia, Abnormal blood ion concentration, Hypoglycemia, Hyponatremia, Hypocalcemia |
ORPHA:173 |
| Chédiak-Higashi Syndrome |
|
Anemia, Hypertriglyceridemia, Neutropenia, Pancytopenia, Hepatosplenomegaly, Increased circulatin... |
ORPHA:167 |
| 3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Hypoglycemia, Hyperammonemia, Abnormal circulating leucine concentration |
ORPHA:6 |
| Laron Syndrome |
|
Hypoglycemia, Osteoarthritis, Hypercholesterolemia |
ORPHA:633 |
| Porphyria Variegata |
|
Abnormal circulating porphyrin concentration, Anemia, Hyponatremia |
ORPHA:79473 |
| Familial Glucocorticoid Deficiency |
|
Ketotic hypoglycemia, Decreased circulating cortisol level, Hyperkalemia, Hypoglycemic seizures, ... |
ORPHA:361 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased B cell count, Autoimmune thrombocytopenia, Hepatosplenomegaly, Increased proportion aut... |
OMIM:615559 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Hyperkalemia, Autoimmune thrombocytopenia, Severe B lymphoc... |
ORPHA:293978 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Increased circulating renin level, Neonatal h... |
ORPHA:90791 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Increased red ce... |
OMIM:194380 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Anemia, Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Os... |
ORPHA:264580 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 2 |
|
Diabetes mellitus, Elevated hemoglobin A1c |
OMIM:619278 |
| Glycogen Storage Disease Ixb |
|
Hypoglycemia, Hyperuricemia, Splenomegaly |
OMIM:261750 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... |
ORPHA:247598 |
| Duodenal Neuroendocrine Tumor |
|
Increased hematocrit, Iron deficiency anemia |
ORPHA:100076 |
| Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Anemia, Hypersplenism, Hyperkalemia, Steatorrhea, Hepatosplenomegaly, Xanth... |
ORPHA:275761 |
| Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Abnormality of iron homeostasis, Incr... |
OMIM:231100 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hypoglycemia, Decreased circulating cortisol level, Hyperkalemia, Hyponatremia |
ORPHA:90790 |
| Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Increased LDL cholesterol con... |
OMIM:278000 |
| Mody |
|
Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Glucose intolerance, Neo... |
ORPHA:552 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Normochromic anemia, Hyponatremia |
ORPHA:95512 |
| Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:163596 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
| Familial Hypoaldosteronism |
|
Hyperkalemia, Increased circulating renin level, Hyponatremia |
ORPHA:427 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Hypokalemia, Osteopenia, Hyponatremia, Hypocalcemia, Splenomegaly |
OMIM:617913 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... |
ORPHA:168558 |
| Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Contractures of the large joints, Increased circulating free fatty acid level, ... |
ORPHA:2457 |
| Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Increased C-peptide level, Hyperinsulinemia, Insulin resistance, Diabetes m... |
ORPHA:528 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Abnormal circulating cholesterol concentration, Decreased circulating cortisol level, Hyperkalemi... |
ORPHA:289548 |
| Dominant Beta-Thalassemia |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular ... |
ORPHA:231226 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypergl... |
OMIM:615812 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hyperbilirubinemia, Hemolytic anemia, Reticulocytosis |
ORPHA:713 |
| Temple Syndrome |
|
Flexion contracture, Joint hypermobility, Maturity-onset diabetes of the young, Hypercholesterole... |
OMIM:616222 |
| Legionnaires Disease |
|
Splenomegaly, Lymphopenia, Hyponatremia |
ORPHA:549 |
| Beta-Thalassemia Major |
|
Abnormality of iron homeostasis, Hypersplenism, Reduced hemoglobin A, Anisopoikilocytosis, Decrea... |
ORPHA:231214 |
| Sheehan Syndrome |
|
Hypoglycemia, Decreased circulating cortisol level, Normochromic anemia, Hyponatremia |
ORPHA:91355 |
| Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Flexion contracture, Acroosteolysis of distal phalanges (feet), Hyperglycemia, ... |
OMIM:248370 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Normochromic anemia, Hyponatremia |
ORPHA:95513 |
| Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia |
OMIM:613090 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hyponatremia |
OMIM:300200 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Increased B cell count, Coombs-positive hemolytic anemia, Neutropenia in presence of anti-neutrop... |
OMIM:603909 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia |
OMIM:618183 |
| Cog4-Cdg |
|
Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly |
ORPHA:263501 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Septic arthritis, Hemolytic anemia, Hypocalcemia, Hyperkalemia, Diabetes mellitus, Leukocytosis, ... |
ORPHA:544482 |
| Hereditary Spherocytosis |
|
Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Hyperb... |
ORPHA:822 |
| Hypercholesterolemia, Familial, 3 |
|
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:603776 |
| Juvenile Nephropathic Cystinosis |
|
Hypocalcemic tetany, Glycosuria, Hypophosphatemia, Hypokalemia, Hyponatremia, Elevated circulatin... |
ORPHA:411634 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia |
OMIM:616267 |
| Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:235400 |
| Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, Increased circulating... |
OMIM:238600 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
| Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Tracheomalacia, Macrocytic anemia, Persistence of hemoglobin F |
OMIM:612561 |
| Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis |
OMIM:300653 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
| Glycogen Storage Disease Ixc |
|
Fasting hypoglycemia, Hypoglycemia, Hypertriglyceridemia, Splenomegaly |
OMIM:613027 |
| Cystinosis, Nephropathic |
|
Reduced blood urea nitrogen, Glycosuria, Decreased plasma carnitine, Hypophosphatemia, Hypokalemi... |
OMIM:219800 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Hypophosphatemia, Rickets, Diabetes mellitus, Hypoglycemia, Hypouricemia |
OMIM:616026 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Abnormal erythrocyte enzyme level, Elevated circulating creatine kinase concentration, Hyperchole... |
ORPHA:370 |
| Infant Botulism |
|
Hyponatremia |
ORPHA:178478 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
| Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, Reticulocytosis, Pa... |
ORPHA:35858 |
| Lysinuric Protein Intolerance |
|
Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Increased serum zinc, Hyperalaninemia... |
ORPHA:470 |
| Hereditary Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:621 |
| Familial Dysautonomia |
|
Osteolysis, Recurrent fractures, Hyponatremia |
ORPHA:1764 |
| Japanese Encephalitis |
|
Elbow flexion contracture, Neutrophilia, Stiff neck, Hyponatremia |
ORPHA:79139 |
| Ogden Syndrome |
|
Hyperbilirubinemia, Maternal diabetes, Polycythemia, Iron deficiency anemia, Thrombocytopenia |
OMIM:300855 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Anemia, Hyperaldosteronism, Hyponatremia, Recurrent fractures, Osteomalacia, Arthritis, Hypophosp... |
ORPHA:534 |
| Dysbetalipoproteinemia |
|
Hypercholesterolemia, Gout, Diabetes mellitus, Increased LDL cholesterol concentration, Decreased... |
ORPHA:412 |
| Von Hippel-Lindau Syndrome |
|
Polycythemia |
OMIM:193300 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis... |
OMIM:274150 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Joint hypermobility, Hypercholesterolemia |
ORPHA:96184 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Leukocytosis, Hypercholesterolemia |
ORPHA:90065 |
| Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Flexion contracture, Microcytic anemia |
ORPHA:98791 |
| Holoprosencephaly |
|
Diabetes mellitus, Hypoglycemia, Joint hyperflexibility, Hyponatremia, Abnormality of the spleen |
ORPHA:2162 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Anemia, Hyperuricemia, Increased susceptibility to fractures, Abnormal myelo... |
ORPHA:79259 |
| Beckwith-Wiedemann Syndrome |
|
Polycythemia, Neonatal hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Hypogl... |
ORPHA:116 |
| Congenital Analbuminemia |
|
Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
| Leukocyte Adhesion Deficiency |
|
Acute myeloid leukemia, Osteomyelitis, Impaired neutrophil chemotaxis, Coronal craniosynostosis, ... |
ORPHA:2968 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hyponatremia, Hyperammonemia, Elevated circulating creatine kinase concentration |
OMIM:610505 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
| Bartter Syndrome Type 4 |
|
Hyperaldosteronism, Hypokalemia, Increased circulating renin level, Hypochloremia, Hyponatremia, ... |
ORPHA:89938 |
| Shwachman-Diamond Syndrome 1 |
|
Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Pancytopenia, Persis... |
OMIM:260400 |
| Liver Disease, Severe Congenital |
|
Leukopenia, Anemia, Hyperalaninemia, Lymphocytosis, Hyperbilirubinemia, Elevated hepatic iron con... |
OMIM:619991 |
| Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... |
ORPHA:247585 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Hypercholesterolemia |
ORPHA:401923 |
| Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypokalemia, Hyperchloriduria, Hypochloremia, Hyponatremia |
OMIM:602522 |
| X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
HbH hemoglobin, Elevated amniotic fluid alpha-fetoprotein |
ORPHA:423479 |
| Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
| Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Joint hypermobility, Persistence of hemoglobin F |
OMIM:617101 |
| Immunodeficiency 47 |
|
Leukopenia, Normocytic anemia, Decreased circulating copper concentration, Joint hypermobility, A... |
OMIM:300972 |
| Lead Poisoning |
|
Abnormal T cell morphology, Anemia, Imbalanced hemoglobin synthesis, Increased LDL cholesterol co... |
ORPHA:330015 |
| Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... |
OMIM:619662 |
| Autoimmune Lymphoproliferative Syndrome |
|
Increased B cell count, Abnormal proportion of CD8-positive T cells, Coombs-positive hemolytic an... |
ORPHA:3261 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Methemoglobinemia |
OMIM:250790 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Type II diabetes mellitus, Decreased HDL cholesterol concentration, Insulin-res... |
OMIM:151660 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Hyperkalemia, Hyponatremia |
OMIM:201810 |
| Von Hippel-Lindau Disease |
|
Polycythemia |
ORPHA:892 |
| Acute Intermittent Porphyria |
|
Hyponatremia |
ORPHA:79276 |
| Congenital Erythropoietic Porphyria |
|
Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Hemolytic an... |
ORPHA:79277 |
| Megalocornea-Intellectual Disability Syndrome |
|
Joint hyperflexibility, Osteopenia, Hypercholesterolemia |
ORPHA:2479 |
| X-Linked Lymphoproliferative Disease |
|
Increased B cell count, Reduced natural killer cell count, T lymphocytopenia, B lymphocytopenia, ... |
ORPHA:2442 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,... |
ORPHA:447 |
| Smith-Magenis Syndrome |
|
Joint stiffness, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Hypersplenism, Hepatosplenomegaly, Increased serum bile acid concentration, Hyponatremia, Thrombo... |
ORPHA:731 |
| Acquired Methemoglobinemia |
|
Methemoglobinemia |
ORPHA:464453 |
| Megalocornea-Mental Retardation Syndrome |
|
Osteopenia, Hypercholesterolemia |
OMIM:249310 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Humeroradial synostosis, Joint contracture of the hand, Decreased circulating renin level, Decrea... |
OMIM:201750 |
| Glycogen Storage Disease Ib |
|
Hyperuricemia, Gout, Osteoporosis, Hypoglycemia, Hyperlipidemia, Xanthelasma, Neutropenia, Spleno... |
OMIM:232220 |
| Abetalipoproteinemia |
|
Anemia, Decreased LDL cholesterol concentration, Hyperbilirubinemia, Reticulocytosis, Abnormal ci... |
ORPHA:14 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:209902 |
| Thymoma |
|
Leukemia, Rheumatoid arthritis, Imbalanced hemoglobin synthesis, Aplastic anemia, Pure red cell a... |
ORPHA:99867 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Hypokalemia, Hyponatremia |
OMIM:618426 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Reduced hematocrit, Normocytic anemia, Elevated circulating C-reactive protein concentration, Ele... |
ORPHA:91500 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperglycemia, Hyperkalemia, Hyperlipidemia, Hyponatremia |
ORPHA:293987 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytosis, Reticulocytosis, Hepatosplenom... |
OMIM:618278 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Hyperkalemia, Neonatal hypoglycemia, Hypochloremia, Hyponat... |
ORPHA:90794 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of hemoglobin F |
OMIM:619769 |
| Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
| Low Phospholipid-Associated Cholelithiasis |
|
Diabetes mellitus, Hypercholesterolemia |
ORPHA:69663 |
| Primary Fanconi Renotubular Syndrome |
|
Increased susceptibility to fractures, Osteomalacia, Glycosuria, Hypophosphatemia, Hypokalemia, D... |
ORPHA:3337 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Anemia, Flexion contracture, Abnormal hemoglobin, Joint stiffness |
ORPHA:847 |
| Blackfan-Diamond Anemia |
|
Acute myeloid leukemia, Leukopenia, Reticulocytopenia, Pure red cell aplasia, Erythroid hypoplasi... |
ORPHA:124 |
| Lowe Oculocerebrorenal Syndrome |
|
Camptodactyly of finger, Elevated maternal serum alpha-fetoprotein, Joint contracture of the hand... |
OMIM:309000 |
| Pearson Syndrome |
|
Anemia, Hyperalaninemia, Glycosuria, Hypophosphatemia, Hypokalemia, Hypocalcemia, Reticulocytosis... |
ORPHA:699 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Anemia, Polycythemia |
OMIM:600376 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Delayed proximal femoral epiphyseal ossification, Neona... |
ORPHA:90674 |
| Marburg Hemorrhagic Fever |
|
Leukopenia, Arthritis, Hypokalemia, Reticulocytosis, Lymphopenia, Elevated circulating creatine k... |
ORPHA:99826 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Anemia, Polycythemia |
OMIM:187300 |
| Kasabach-Merritt Syndrome |
|
Leukopenia, Anemia, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Neutrop... |
ORPHA:2330 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:301040 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Impaired glucose tolerance, Insulin resistance, Type I diabetes mellitus, Hypercholesterolemia, H... |
OMIM:606721 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
| Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hyperinsulinemia, Insulin resistance, Hypercholesterolemia |
ORPHA:273 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Joint hypermobility, Increased circulating ferritin concentration, Osteopenia... |
OMIM:619534 |
| Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
| Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |
