Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Iron-Refractory Iron Deficiency Anemia |
|
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... |
OMIM:206200 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:619175 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia |
OMIM:245900 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... |
OMIM:607616 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... |
OMIM:616860 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc... |
OMIM:610947 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha... |
OMIM:603552 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Vitamin D-Dependent Rickets, Type 3 |
|
Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Poikilocytosis, Ery... |
OMIM:615631 |
Neutral Lipid Storage Disease With Myopathy |
|
Cardiomyopathy, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Pericardial eff... |
OMIM:619313 |
Hypercalcemia, Infantile, 2 |
|
Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S... |
OMIM:224120 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:614480 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Mental deterioration, Hypertriglyceridemia |
OMIM:615924 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Acute myeloid leukemia, Macrocytic anemia, Anisocytosis, Abnormal erythrocyte morphology, Erythro... |
ORPHA:86841 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Congestive heart failure, Leukocytosis, Hypovolemia, Abnormal blood io... |
ORPHA:31824 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Iron deficiency anemia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia |
OMIM:177000 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Cognitive impairment, Hypophosphatemia |
OMIM:300555 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Glycogen Storage Disease Ixa1 |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... |
OMIM:300908 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Splenomegaly, Increased circulating ferritin... |
OMIM:300635 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Pancytopenia, Hypertriglyceridemia, Absent circulating B cells |
OMIM:620282 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Orotic Aciduria |
|
Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-res... |
OMIM:258900 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Linear Verrucous Nevus Syndrome |
|
Mental deterioration, Hypophosphatemia |
ORPHA:2611 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Hypophosphatemia |
OMIM:612287 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Confusion, Depression, Abnormal left ventricular function, Irritability, H... |
ORPHA:36913 |
Cholesteryl Ester Storage Disease |
|
Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:618913 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Hypertriglyceridemia |
ORPHA:71529 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... |
ORPHA:71275 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hypophosphatemia |
OMIM:612286 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:603233 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci... |
OMIM:207750 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Familial Isolated Hyperparathyroidism |
|
Hypercalcemia, Hypophosphatemia |
ORPHA:99879 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia |
OMIM:308990 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia |
OMIM:239200 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... |
OMIM:619743 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph... |
ORPHA:157215 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia |
OMIM:619013 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... |
ORPHA:158061 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen |
ORPHA:94059 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertension, Hypertriglyceridemia |
ORPHA:280356 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertension, Hypertriglyceridemia, Progressive psychomotor deterioration, Cognitive impairment |
ORPHA:363400 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
OMIM:264700 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertension, Hypertriglyceridemia |
OMIM:613877 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Confusion, H... |
ORPHA:247585 |
Fanconi Renotubular Syndrome 1 |
|
Hypokalemia, Hypophosphatemia |
OMIM:134600 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:241530 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
OMIM:603553 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Cystinosis |
|
Hypokalemia, Portal hypertension, Hypophosphatemia |
ORPHA:213 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98855 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... |
OMIM:278000 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:261 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Cardiomyopathy, Hyperlipidemia, Elevated circulating creatine kinase con... |
OMIM:232400 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Confusion, Hyperammonemia, Hyperargininemia, Elevated plasma citrulline |
OMIM:603471 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia |
OMIM:307800 |
Vitamin D-Dependent Rickets, Type 2A |
|
Irritability, Hypocalcemic seizures, Hypophosphatemia |
OMIM:277440 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertension, Hypertriglyceridemia |
OMIM:608600 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Abnormal heart morphology |
OMIM:182290 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Depression, Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Hypercalcemia |
ORPHA:94086 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Pulmonary embolism, Hyperlipidemia, Hepatosplenomegaly, Depression, Dementi... |
ORPHA:444490 |
Pearson Syndrome |
|
Reticulocytosis, Pancytopenia, Cardiac conduction abnormality, Thrombocytopenia, Splenomegaly, Ne... |
ORPHA:699 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Leukocyto... |
OMIM:618278 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia |
OMIM:127000 |
Chylomicron Retention Disease |
|
Acanthocytosis, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... |
OMIM:614022 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Hypertriglyceridemia, Elevated circulating creatine kinase concentrati... |
ORPHA:98863 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Irritability, Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia |
ORPHA:289157 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decreased LDL choles... |
OMIM:615947 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Congestive heart failure, Splenomegaly, Hypertension, Hyperuricemia, Hypert... |
ORPHA:79083 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Fanconi Renotubular Syndrome 2 |
|
Hypophosphatemia |
OMIM:613388 |
Tangier Disease |
|
Hypertriglyceridemia, Thrombocytopenia, Hepatosplenomegaly, Hypocholesterolemia, Left ventricular... |
ORPHA:31150 |
Malignant Hyperthermia Of Anesthesia |
|
High-output congestive heart failure, Ventricular tachycardia, Hyperkalemia, Cardiomyocyte mitoch... |
ORPHA:423 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Congestive heart failure, Hypercholesterolemia, Hypertrophic cardiomyopathy... |
ORPHA:528 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Hypertriglyceridemia |
ORPHA:2348 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Emotional lability, Hypertriglyceridemia, Or... |
ORPHA:179494 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:300554 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Elevated circulating creatine kinase concentration, Pulmonary embolism... |
ORPHA:94093 |
Fanconi-Bickel Syndrome |
|
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... |
OMIM:227810 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Splenomegaly, Hypovolemia, Increase... |
ORPHA:90041 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
Oncogenic Osteomalacia |
|
Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:79445 |
Hemophagocytic Syndrome Associated With An Infection |
|
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:158048 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Epistaxis, Peric... |
ORPHA:167 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertension, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:604367 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Irritability, Hypertrophic cardiomyopathy, Hyperlipidemia |
ORPHA:369 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... |
ORPHA:540 |
Reni Syndrome |
|
Mental deterioration, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Pseudohypoparathyroidism, Type Ic |
|
Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Cognitive impairment |
OMIM:612462 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Pulmonary embolism, Hypoalbuminemia, Hypercholesterolemia, Abnormal circula... |
ORPHA:567548 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal erythrocyte en... |
ORPHA:264580 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia,... |
OMIM:277460 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hematochezia, Hypoalbuminemia, Hypocalc... |
OMIM:618183 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Depression, Hyperphosphatemia, Hypocalcemia, Hypotension, Hypomagnesemi... |
ORPHA:428 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Hypertriglyceridemia, Elevated hemoglobin A1c, Congestive heart failure,... |
OMIM:617253 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Shortened PR interval, H... |
ORPHA:79102 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia, Cognitive impairment |
ORPHA:364 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Hypophosphatemia, Pulmonary arte... |
ORPHA:667 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Hypovolemia, Elevated circulating creatinine concentration, Hypokalem... |
ORPHA:411634 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu... |
ORPHA:363618 |
Glycogen Storage Disease Ixc |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:613027 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Psychomotor deterioration, Hypertriglyceridemia, Hypercholesterolemia, Bone-marrow ... |
ORPHA:275761 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Abnormal circulating serine concentration, H... |
ORPHA:470 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hyp... |
ORPHA:94089 |
Hereditary Fructose Intolerance |
|
Hypermagnesemia, Hyperuricemia, Hypophosphatemia |
ORPHA:469 |
Infantile Nephropathic Cystinosis |
|
Hypokalemia, Abnormal blood ion concentration, Cognitive impairment, Hypophosphatemia |
ORPHA:411629 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... |
OMIM:619573 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Congestive heart failure, Dilated ... |
OMIM:203800 |
Mccune-Albright Syndrome |
|
Primary hypercortisolism, Increased circulating cortisol level, Pancytopenia, Hypophosphatemia |
ORPHA:562 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Cardiomyopathy, Hypertriglyceridemia, Abnormal granulocyte morphology, Abnormal circulating creat... |
ORPHA:98907 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia |
OMIM:214900 |
Dent Disease 1 |
|
Hypophosphatemia |
OMIM:300009 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Hypertension, Hypophosphatemia |
OMIM:104200 |
Calciphylaxis |
|
Hyperphosphatemia |
ORPHA:280062 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Abnormal cardiovascular system physiology, Cardiomyopathy, Hypertension, Ab... |
ORPHA:79086 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Hyperphosphatemia, Hypercalcemia |
OMIM:617994 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, H... |
OMIM:235400 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Arrhythmia |
ORPHA:99845 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia |
OMIM:617591 |
Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:79085 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia, Orthostatic hypotensio... |
ORPHA:66628 |
Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Hyperphosphatemia, Cognitive impairment |
OMIM:103580 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Telangiectasia of the skin |
OMIM:615381 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc... |
ORPHA:3337 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal heart valve morphology, A... |
ORPHA:77293 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Attention deficit hyperactivity disorder |
ORPHA:819 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal atrioventricular conducti... |
ORPHA:280365 |
Methanol Poisoning |
|
Confusion, Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atria... |
ORPHA:31825 |
Opsismodysplasia |
|
Hypophosphatemia |
OMIM:258480 |
Fibrous Dysplasia Of Bone |
|
Increased circulating cortisol level, Hypercalcemia, Hypophosphatemia |
ORPHA:249 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Depression, Anemia, Hypokalemia, Hyperaldosteronism, Attention defic... |
ORPHA:534 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Confusion, Hematemesis, Thrombocytopenia, Leukocytosis, Elevated c... |
ORPHA:340 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Angina pectoris, Increased LDL cho... |
ORPHA:412 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Anisocytosis |
OMIM:604273 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperchol... |
ORPHA:79240 |
Cystinosis, Nephropathic |
|
Hyponatremia, Progressive neurologic deterioration, Splenomegaly, Reduced blood urea nitrogen, Hy... |
OMIM:219800 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Calcinosis, Confusion, Depression, Irritability, Hyperphosphatemia, Hypoca... |
ORPHA:79444 |
Familial Hypocalciuric Hypercalcemia |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures |
ORPHA:405 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:435651 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Elevated circulating creatine kinase concentration, Confusion, Hyperkalemi... |
ORPHA:466650 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elevated circulati... |
OMIM:613327 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia |
OMIM:211900 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Confusion, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Raine Syndrome |
|
Hypophosphatemia |
OMIM:259775 |
Griscelli Syndrome Type 2 |
|
Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia |
ORPHA:79477 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hypertension, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating crea... |
OMIM:615980 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Achalasia, Depression, ... |
ORPHA:324 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Epistaxis, Chronic neutropenia, Hyperlipidemia, Hypertension, Xanthelasma, ... |
ORPHA:79259 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Abnormal heart morphology, Atrial septal defect, Restrictive... |
ORPHA:369837 |
H Syndrome |
|
Hypertriglyceridemia, Microcytic anemia, Abnormal cardiovascular system physiology, Hepatosplenom... |
ORPHA:168569 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hypertriglyceridemia, Ventricular septal defect, Splenomegaly, Polysplenia, Anemia |
OMIM:619418 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Calcinosis, Confusion, Depression, Hypertension, Irritability, Hyperphosph... |
ORPHA:79443 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Shortened QT interval, Hypercalcemia, Hypophosphatemia |
ORPHA:99880 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia |
OMIM:229600 |
Parathyroid Carcinoma |
|
Shortened QT interval, Hypercalcemia, Hypophosphatemia |
ORPHA:143 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia... |
ORPHA:565612 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia |
ORPHA:2323 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia |
OMIM:239000 |
Congenital Erythropoietic Porphyria |
|
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... |
ORPHA:79277 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures |
ORPHA:93325 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia |
ORPHA:289176 |
Dent Disease |
|
Renal hypophosphatemia, Elevated circulating creatine kinase concentration |
ORPHA:1652 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Irritability, Hyperlipidemia |
ORPHA:2089 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Mitral valve calcification, Tricuspid regurgitation, Hypertriglyceridemia, Elevated hemoglobin A1... |
OMIM:619127 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Ventricular septal hypertrophy, Hype... |
OMIM:269700 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Depre... |
ORPHA:189427 |
Neutral Lipid Storage Myopathy |
|
Cardiomyopathy, Hypertriglyceridemia, Congestive heart failure, Abnormal circulating creatine kin... |
ORPHA:98908 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Elevated circulati... |
ORPHA:228308 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Hypertriglyceridemia, Mitral valve prolapse |
ORPHA:536532 |
X-Linked Hypophosphatemia |
|
Hypophosphatemia |
ORPHA:89936 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Hyperlipidemia, Mitral regurgitation, Atrial sep... |
ORPHA:254346 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Splenomegaly, Hyperlipidemia, Portal hypertension |
ORPHA:1414 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertension, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... |
OMIM:256040 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Congestive heart failure, Hyperlipidemia, Thrombocytopenia, Hypertensi... |
ORPHA:1830 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Combined Deficiency Of Factor V And Factor Viii |
|
Gastrointestinal hemorrhage, Epistaxis, Hyperlipidemia, Intracranial hemorrhage, Hyperuricemia, J... |
ORPHA:35909 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Splenomegaly, Cardiomyopathy, Hypertriglyceridemia |
OMIM:608594 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Hyperphosphatemia |
OMIM:101800 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Ventricular septal defect, Atrial septal defect, Hypercholesterolemia, Tetr... |
OMIM:118450 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia, Abnormal tricuspid valve morphology |
ORPHA:199276 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia, Telangiectasia of the skin, Congestive heart failure, Aortic valve calcific... |
ORPHA:79474 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hyperglycerolemia |
OMIM:307030 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Hypertension, Pulmonary arterial hypertension, Hyp... |
OMIM:606721 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Confusion, Congenital malformation of the left heart, Pulmonic stenosis, Dy... |
ORPHA:3455 |
Wiedemann-Rautenstrauch Syndrome |
|
Secundum atrial septal defect, Hypertriglyceridemia, Hypoplasia of the thymus |
OMIM:264090 |
Glycogen Storage Disease Ib |
|
Splenomegaly, Hyperlipidemia, Hypertension, Xanthelasma, Hyperuricemia, Neutropenia |
OMIM:232220 |
Parenteral Nutrition-Associated Cholestasis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circul... |
ORPHA:567983 |
Glycogen Storage Disease Ic |
|
Cyclic neutropenia, Spider hemangioma, Hyperlipidemia, Hypertension, Xanthelasma, Hyperuricemia, ... |
OMIM:232240 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Sudden cardiac death, Myocardial infarction, Hyperlipidemia, Heart murmur, Abnor... |
ORPHA:391665 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia |
ORPHA:90154 |
Glycogen Storage Disease Ia |
|
Hypertension, Hyperlipidemia, Hyperuricemia, Xanthelasma |
OMIM:232200 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hypertension, Hyperlipidemia, Hypoalbuminemia, Pulmonary embolism |
ORPHA:567546 |
Alström Syndrome |
|
Hypertriglyceridemia, Portal hypertension, Congestive heart failure, Hyperlipidemia, Dilated card... |
ORPHA:64 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Hyperlipidemia, Hyperkalemia, Depression, Emotional lability |
ORPHA:293987 |
Woodhouse-Sakati Syndrome |
|
Mental deterioration, Abnormal T-wave, Hyperlipidemia |
ORPHA:3464 |
Woodhouse-Sakati Syndrome |
|
Abnormal T-wave, Hyperlipidemia |
OMIM:241080 |