Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Diamond-Blackfan Anemia-Like |
|
Pure red cell aplasia, Steroid-responsive anemia |
OMIM:617911 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Anemia, Steroid-responsive anemia |
OMIM:618312 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Anisocytosis, Anemia of inadequate production, Oval macrocytosis, Poikilocytosis |
OMIM:603529 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Iron-Refractory Iron Deficiency Anemia |
|
Hypochromic microcytic anemia, Anisocytosis, Poikilocytosis |
OMIM:206200 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies |
OMIM:140700 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Splenomegaly, Hepatomegaly |
OMIM:619175 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Poikilocytosis, Anisocytosis, Hypochromic anemia, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
Overhydrated Hereditary Stomatocytosis |
|
Stomatocytosis, Hemolytic anemia, Abnormal mean corpuscular volume, Decreased mean corpuscular he... |
ORPHA:3203 |
Acetophenetidin Sensitivity |
|
Methemoglobinemia, Hemolytic anemia |
OMIM:200300 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Delta-Beta-Thalassemia |
|
Anemia, Abnormal hemoglobin, Microcytic anemia |
ORPHA:231237 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Anemia, Congenital hemolytic anemia, Reticulocytosis, Poikilocytosis, Abnormal erythrocyte morpho... |
ORPHA:766 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hepatomegaly, Hypercholesterolemia |
OMIM:232700 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Hemoglobin D Disease |
|
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... |
ORPHA:90039 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosis, Anemia of inadequat... |
OMIM:615631 |
Lipoid Congenital Adrenal Hyperplasia |
|
Adrenogenital syndrome, Hypospadias, Renal salt wasting, Congenital adrenal hyperplasia |
OMIM:201710 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Hypopituitarism, Increased VLDL cholesterol concentration |
OMIM:144600 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Hypopituitarism, Increased VLDL cholesterol concentration |
OMIM:145750 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Anemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Hypertriglyceridemia |
OMIM:608898 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia |
ORPHA:231242 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
Anemia, Nonspherocytic Hemolytic, Associated With Abnormality Of Red Cell Membrane |
|
Nonspherocytic hemolytic anemia |
OMIM:206300 |
Adenosine Triphosphatase Deficiency, Anemia Due To |
|
Nonspherocytic hemolytic anemia |
OMIM:102800 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Elliptocytosis, Poikilocytosis, Anisocytosis, Macrocytic anemia, Thrombocytopenia, Neutropenia, A... |
OMIM:300835 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Anemia, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:607616 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Decreased HDL cholesterol concentration, Proteinuria, Renal insufficiency, Hype... |
OMIM:245900 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he... |
OMIM:603902 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypercholesterolemia, Adrenal calcification, Hypertriglyceridemia, Splenomegaly |
ORPHA:75234 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger |
OMIM:618010 |
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Erythroid hypoplasia, A... |
ORPHA:86841 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Anemia, Hypertriglyceridemia, Lymphadenopathy, Increased circulating ferritin concentration, Hemo... |
OMIM:603552 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia, Splenomegaly, Hepatomegaly |
OMIM:614480 |
Hyperaldosteronism, Familial, Type I |
|
Hyperaldosteronism, Decreased circulating renin level, Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:103900 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatosplenomegaly, Diabetes mellitus, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hypertri... |
OMIM:612526 |
Lipase Deficiency, Combined |
|
Type II diabetes mellitus, Hypertriglyceridemia |
OMIM:246650 |
Papular Xanthoma |
|
Histiocytosis, Hyperlipidemia |
ORPHA:158008 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Hepatomegaly, Hypercholesterolemia, Hypertriglyceridemia, Splenomegaly |
OMIM:306000 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anemia, Erythroid hyperplasia, Hepatosplenomegaly, Decreased mean corpuscular volume, Anisocytosi... |
OMIM:616860 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Macrocytic dyserythropoietic anemia, Po... |
OMIM:224120 |
Neutral Lipid Storage Disease With Myopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Hepatomegaly, Elevated circulating creatine kinase conce... |
OMIM:610717 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Increased circulating ferritin concentration, Hemoph... |
OMIM:613101 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabetes mellitus |
ORPHA:436182 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia, Reduced hematocrit, Hemolytic anemia, Circulating nucleated red blood cells, Erythroid hy... |
OMIM:613673 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio |
OMIM:604131 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio |
OMIM:300448 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hepatomegaly, Aplas... |
OMIM:300635 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemia, Hypertriglyceridemia |
ORPHA:71529 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Elliptocytosis, Anemia of inadequate production, Hemolytic anemia |
OMIM:166910 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co... |
ORPHA:280356 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Hypospadias, Renal salt wasting, Adrenal hyperplasia |
OMIM:201910 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... |
ORPHA:79085 |
Familial Hyperaldosteronism Type Ii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Abnormal circulating renin, A... |
ORPHA:404 |
Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Adrenocortical hypoplasia, Increased urinary glycerol, Cryptorchidism, Hyp... |
OMIM:307030 |
Apolipoprotein C-Ii Deficiency |
|
Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholesterolemia, Incr... |
OMIM:207750 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Hypopituitarism, Hepatosplenomegaly, Arachnodactyly, Hypertriglyceridemia, Microc... |
OMIM:619013 |
Lcat Deficiency |
|
Renal insufficiency, Hemolytic anemia, Acute kidney injury, Stage 5 chronic kidney disease, Decre... |
ORPHA:650 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Hypertriglyceridemia, Increased serum leptin, Hyperlipidemia |
OMIM:617885 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Heinz bodies, Fava bean-induced hemolytic anemia, Reticulocytosis, Poikilocytosis, Anisocytosis, ... |
OMIM:300908 |
Pyropoikilocytosis, Hereditary |
|
Elliptocytosis, Hemolytic anemia, Microspherocytosis, Pyropoikilocytosis |
OMIM:266140 |
Asplenia, Isolated Congenital |
|
Asplenia, Howell-Jolly bodies, Thrombocytosis |
OMIM:271400 |
Hyperaldosteronism, Familial, Type Iii |
|
Hyperaldosteronism, Decreased circulating renin level, Hypokalemia, Adrenal hyperplasia, Polyuria... |
OMIM:613677 |
Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Diabetic ketoacidosis, Decreased serum leptin, Decreased adiponectin l... |
OMIM:615238 |
Nephrotic Syndrome, Type 14 |
|
Hypothyroidism, Hypertriglyceridemia, Hypogonadism, Nephrotic syndrome, Stage 5 chronic kidney di... |
OMIM:617575 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia, Hemolytic anemia, Cholelithiasis |
OMIM:177000 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Autoimmune Polyendocrinopathy Type 1 |
|
Decreased circulating aldosterone level, Increased circulating cortisol level, Adrenal hyperplasi... |
ORPHA:3453 |
Ovalocytosis, Southeast Asian |
|
Elliptocytosis, Hemolytic anemia |
OMIM:166900 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Anemia, Reduced natural killer cell count, Hypertriglyceridemia, Hyperbil... |
ORPHA:158057 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:66628 |
Familial Hyperaldosteronism Type I |
|
Hypokalemia, Abnormal circulating renin, Adrenal hyperplasia, Secretory adrenocortical adenoma, D... |
ORPHA:403 |
Focal Segmental Glomerulosclerosis 1 |
|
Anemia, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental glomeruloscl... |
OMIM:603278 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anemia, Poikilocytosis, Abnormal erythrocyte morphology, Anisocytosis, Increased mean corpuscular... |
ORPHA:98870 |
Orotic Aciduria |
|
Pyrimidine-responsive megaloblastic anemia, Poikilocytosis, Anisocytosis, Folate-unresponsive meg... |
OMIM:258900 |
Nephrotic Syndrome, Type 2 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental ... |
OMIM:600995 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Decreased ... |
ORPHA:179494 |
Lysosomal Acid Lipase Deficiency |
|
Leukopenia, Anemia, Adrenal insufficiency, Hypersplenism, Steatorrhea, Hepatosplenomegaly, Adrena... |
OMIM:278000 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Precocious puberty, Small hand, Decreased testicular ... |
OMIM:616222 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Anemia, Pancytopenia, Increased circulating ferritin concentration, Hemophagocytosis, Hypertrigly... |
OMIM:618398 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Reduced natural killer cell count, Hypoplasia of the thymus, T lymphocytopenia, B lymphocytopenia... |
OMIM:619313 |
Erythrocytosis, Familial, 3 |
|
Increased hematocrit, Increased red blood cell mass, Increased hemoglobin |
OMIM:609820 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:618620 |
Familial Hyperaldosteronism Type Iii |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Left ventricular hypertrophy,... |
ORPHA:251274 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Cidec-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet... |
ORPHA:435651 |
Rh Deficiency Syndrome |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Anisocytosis, Macrocytic a... |
ORPHA:71275 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Lymphade... |
OMIM:267700 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Lipodystrophy, Familial Partial, Type 1 |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatomegaly |
OMIM:608600 |
Diamond-Blackfan Anemia 3 |
|
Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol... |
OMIM:610629 |
Tangier Disease |
|
Left ventricular hypertrophy, Decreased HDL cholesterol concentration, Hepatomegaly, Decreased ci... |
OMIM:205400 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Decreased HDL cholesterol concentration, Hy... |
OMIM:615558 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anemia, Elliptocytosis, Poikilocytosis, Decreased mean corpuscular volume, Anisocytosis |
OMIM:616959 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Increased hemoglobin, Polycythemia |
OMIM:617980 |
Cryohydrocytosis |
|
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:185020 |
Isolated Anencephaly |
|
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes |
ORPHA:563609 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn... |
ORPHA:567548 |
Lipe-Related Familial Partial Lipodystrophy |
|
Elevated circulating creatine kinase concentration, Decreased serum leptin, Polycystic ovaries, D... |
ORPHA:435660 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Scrotal hypospadias, Elevated circulating 17-hydroxyprogesterone concentration, Hyponatremia, Mic... |
OMIM:201810 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Hyperuricemia, Type II diabetes mellitus, Maternal diabetes, Polycystic ovaries... |
OMIM:604367 |
Immunodeficiency 97 With Autoinflammation |
|
Reduced natural killer cell count, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T ... |
OMIM:619802 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Bile duct proliferation, Splenomegaly, Hepatomegaly |
OMIM:613027 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Macrophage Activation Syndrome |
|
Abnormal natural killer cell count, Anemia, Hypertriglyceridemia, Lymphadenopathy, Increased circ... |
ORPHA:158061 |
Hyperlipidemia, Familial Combined, 3 |
|
Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... |
ORPHA:90793 |
Erythrocytosis, Familial, 8 |
|
Increased hematocrit, Splenomegaly, Increased hemoglobin, Polycythemia |
OMIM:222800 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Elliptocytosis, Chronic hemolytic anemia, Pyropoikilocytosis |
OMIM:617948 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:219080 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Adrenal hyperplasia |
OMIM:202110 |
Hyperlipoproteinemia, Type Id |
|
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Decreased HDL cholesterol concentr... |
OMIM:615947 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased circulating cortisol level, Decreased circulating ACT... |
OMIM:615954 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Diabetes mellitus, Primary hypercortisolism, Adrenal hyperp... |
OMIM:615830 |
Primary Unilateral Adrenal Hyperplasia |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Decreased circulating renin level, Hypokal... |
ORPHA:231580 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Hepatosplenomegaly, ... |
ORPHA:247598 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemia, Increased circulating... |
OMIM:238600 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Leukopenia, Anemia, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy,... |
OMIM:603553 |
Smith-Magenis Syndrome |
|
Brachydactyly, Abnormality of the thyroid gland, Hypercholesterolemia, Short palm, Hypertriglycer... |
OMIM:182290 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Hypertriglyceridemia, Hepatomegaly |
ORPHA:363400 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Elevated circulating... |
ORPHA:90791 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Male hypogonadism, Diabetes mellitus, Hepatomegaly, Cryptorchidism, Hypertriglyceridemia |
OMIM:615381 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Abnormal circulating renin, Dexamethasone-s... |
ORPHA:369929 |
Alstrom Syndrome |
|
Tubulointerstitial nephritis, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased res... |
OMIM:203800 |
Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Increased circulating free fatty acid level, Acroosteolysis of distal phalanges... |
ORPHA:2457 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level... |
ORPHA:189439 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Hyperinsulinemia, Increased C-peptide level, Diabetes mellitus, Po... |
ORPHA:528 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Humeroradial synostosis, Narr... |
ORPHA:95699 |
Fanconi-Bickel Syndrome |
|
Renal tubular acidosis, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Generalized aminoaciduri... |
ORPHA:2088 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
Citrullinemia, Type Ii, Adult-Onset |
|
Argininosuccinic aciduria, Hyperammonemia, Hyperargininemia, Hypertriglyceridemia, Elevated plasm... |
OMIM:603471 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hyperuricemia, Maternal diabetes, Diabetes mellitus, Polycystic ovaries, Hepatomegaly, Insulin-re... |
ORPHA:79083 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hypoalbuminemia, ... |
ORPHA:247585 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... |
ORPHA:189427 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Slender long bone, Hydrocele testis, Congenital adrenal hyper... |
ORPHA:96181 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypothyroidism, Precocious puberty, Toe syndactyly, Hand polydactyly, Clino... |
ORPHA:819 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev... |
OMIM:202010 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Finger swelling, Anemia, Lymphopenia, Lymphadenopathy, Hepatomegaly, Thrombocytopenia, Hypertrigl... |
OMIM:617591 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia |
OMIM:214900 |
Dysbetalipoproteinemia |
|
Hypercholesterolemia, Hypothyroidism, Diabetes mellitus, Increased LDL cholesterol concentration,... |
ORPHA:412 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Anemia, Hypertriglyceridemia, Abnormal renal physiology, Lymphadenopathy, Increased circulating f... |
ORPHA:540 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Diabetes mellitus, Polycystic ovaries, Hepatomegaly, Hypertriglyceridemia, Splenomegaly |
ORPHA:2348 |
Seckel Syndrome 10 |
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Glycosuria, Slender long bone, Diabetes mellitus, Metaphyseal widening, Elevated circulating lute... |
OMIM:617253 |
Xp21 Deletion Syndrome |
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Hypertriglyceridemia, Adrenal insufficiency, Primary adrenal insufficiency, Elevated circulating ... |
ORPHA:261476 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Cholesterol gallstones, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hyperchole... |
ORPHA:209902 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hyperch... |
OMIM:615812 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
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Macroorchidism, Increased circulating ACTH level, Decreased circulating cortisol level, Hyperkale... |
ORPHA:90790 |
H Syndrome |
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Hypertriglyceridemia, Hallux valgus, Hypogonadism, Decreased testicular size, Enlarged kidney, Ca... |
ORPHA:168569 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Hypertriglyceridemia, Renal tubular acidosis, Abnormal erythrocyte enzyme level, Elevated circula... |
ORPHA:370 |
Hemophagocytic Syndrome Associated With An Infection |
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Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia... |
ORPHA:158048 |
Dominant Beta-Thalassemia |
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Hypersplenism, Reduced hemoglobin A, Decreased mean corpuscular hemoglobin concentration, Hepatos... |
ORPHA:231226 |
Diarrhea 10, Protein-Losing Enteropathy Type |
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Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Polyuria, Cryptor... |
OMIM:618183 |
Chylomicron Retention Disease |
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Hypocholesterolemia, Hypertriglyceridemia, Steatorrhea, Acanthocytosis |
ORPHA:71 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
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Anisocytosis |
OMIM:604273 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Anemia, Hypertriglyceridemia, Renal tubular acidosis, Abnormal erythrocyte enzyme level, Elevated... |
ORPHA:264580 |
Lysinuric Protein Intolerance |
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Hyperlysinuria, Ornithinuria, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Hypercholeste... |
ORPHA:470 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Anemia, Hypertriglyceridemia, Renal tubular acidosis, Elevated circulating creatine kinase concen... |
ORPHA:79240 |
Generalized Glucocorticoid Resistance Syndrome |
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Precocious puberty, Decreased circulating aldosterone level, Increased circulating cortisol level... |
ORPHA:786 |
Lysosomal Acid Lipase Deficiency |
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Abnormal urine potassium concentration, Hypercholesterolemia, Anemia, Hypersplenism, Hyperkalemia... |
ORPHA:275761 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
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Osteolytic defects of the phalanges of the hand, Acroosteolysis of distal phalanges (feet), Decre... |
ORPHA:280365 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Decreased testicular size, Hypospadias, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Acquired Generalized Lipodystrophy |
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Hyperinsulinemia, Abnormal circulating lipid concentration, Polycystic ovaries, Insulin-resistant... |
ORPHA:79086 |
Gaisböck Syndrome |
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Increased mean corpuscular hemoglobin concentration, Hyperproteinemia, Hyperuricemia, Increased r... |
ORPHA:90041 |
Griscelli Syndrome Type 2 |
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Pancytopenia, Lymphadenopathy, Hemophagocytosis, Hepatomegaly, Hyperlipidemia, Neutropenia, Splen... |
ORPHA:79477 |
Nephrotic Syndrome, Type 1 |
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Hypothyroidism, Congenital nephrotic syndrome, Glomerular sclerosis, Hypoproteinemia, Diffuse mes... |
OMIM:256300 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Hyperinsulinemia, Hyperlipidemia |
ORPHA:329249 |
Ataxia With Vitamin E Deficiency |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hypercholesterolemia, Chronic neutropenia, Anemia, Hypothyroidism, Hyperuricemia, Stage 5 chronic... |
ORPHA:79259 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hemolytic anemia, Elliptocytosis, Reticulocytosis, Hepatosplenomegaly, Poikilocytosis, Anisocytos... |
OMIM:618278 |
Familial Chylomicronemia Syndrome |
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Hepatosplenomegaly, Diabetes mellitus, Hyperlipidemia, Increased circulating chylomicron concentr... |
ORPHA:444490 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Shoulder dislocation, Hallux valgus, Hip dislocation, Hammertoe, Abnormal toe morphology, Diabete... |
ORPHA:536532 |
Glycogen Storage Disease Iii |
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Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Tangier Disease |
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Anemia, Left ventricular hypertrophy, Hepatosplenomegaly, Hypocholesterolemia, Chronic noninfecti... |
ORPHA:31150 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
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Upper limb undergrowth, Congenital megaureter, Precocious puberty, Slender long bone, Renal cyst,... |
ORPHA:369837 |
Lipodystrophy, Familial Partial, Type 2 |
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Hypercholesterolemia, Hyperinsulinemia, Type II diabetes mellitus, Polycystic ovaries, Decreased ... |
OMIM:151660 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98863 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:261 |
Microtriplication 11Q24.1 |
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Genu valgum, Small hand, Clinodactyly of the 5th finger, Metatarsus adductus, Hyperlipidemia, Sho... |
ORPHA:289522 |
Werner Syndrome |
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Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c, Hypogonadism |
OMIM:277700 |
Lipodystrophy, Congenital Generalized, Type 4 |
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Hyperinsulinemia, Elevated circulating creatine kinase concentration, Hepatomegaly, Hypertriglyce... |
OMIM:613327 |
Chédiak-Higashi Syndrome |
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Anemia, Hypertriglyceridemia, Neutropenia, Pancytopenia, Hepatosplenomegaly, Lymphadenopathy, Inc... |
ORPHA:167 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
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Delayed puberty, Proteinuria, Hyperlipidemia, Hepatomegaly |
ORPHA:369 |
Lipodystrophy, Familial Partial, Type 6 |
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Diabetes mellitus, Abnormal circulating lipid concentration, Hyperlipidemia, Elevated circulating... |
OMIM:615980 |
X-Linked Lymphoproliferative Disease |
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T lymphocytopenia, Hepatosplenomegaly, Increased T cell count, Bone marrow hypocellularity, Cervi... |
ORPHA:2442 |
Neutral Lipid Storage Disease With Ichthyosis |
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Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Hepatomegaly, Abnormal ... |
ORPHA:98907 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Camptodactyly of finger, Finger swelling, Hypertriglyceridemia, Elevated circulating thyroid-stim... |
OMIM:256040 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Abnormal circulating lipid concentration, Hypersplenism, Acute promyelocytic leukemia, Autoimmune... |
ORPHA:77293 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Osteolytic defects of the phalanges of the hand, Genu valgum, Hypertriglyceridemia, Short femoral... |
OMIM:619127 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
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Bifid sternum |
OMIM:140850 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Hypospadias, Adrenal gland agenesis |
OMIM:611812 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
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Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Schimke Immuno-Osseous Dysplasia |
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Nephrotic range proteinuria, Anemia, Neutropenia, Abnormality of thyroid physiology, Microscopic ... |
ORPHA:1830 |
Cholestasis-Lymphedema Syndrome |
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Abnormality of urine homeostasis, Hyperlipidemia, Splenomegaly, Hepatomegaly |
ORPHA:1414 |
Proteus-Like Syndrome |
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Abnormality of the parathyroid gland, Polycystic ovaries, Thymus hyperplasia, Splenomegaly |
ORPHA:2969 |
Lipodystrophy, Congenital Generalized, Type 1 |
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Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Decreased serum leptin, Polycys... |
OMIM:608594 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
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Anemia, Polysplenia, Lymphadenopathy, Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Splen... |
OMIM:619418 |
Alagille Syndrome 1 |
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Vesicoureteral reflux, Hypertriglyceridemia, Multiple small medullary renal cysts, Renal tubular ... |
OMIM:118450 |
Lipodystrophy, Congenital Generalized, Type 2 |
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Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Type II diabetes mellitus, Decr... |
OMIM:269700 |
19P13.12 Microdeletion Syndrome |
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Hypothyroidism, Precocious puberty, Finger syndactyly, Clinodactyly of the 5th finger, Toe clinod... |
ORPHA:254346 |
Griscelli Syndrome Type 1 |
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Hyperlipidemia |
ORPHA:79476 |
Glycogen Storage Disease Ib |
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Hyperuricemia, Enlarged kidney, Focal segmental glomerulosclerosis, Delayed puberty, Pancreatic f... |
OMIM:232220 |
Immunodeficiency 87 And Autoimmunity |
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Decreased CD4:CD8 ratio, Hemolytic anemia, Hypokalemia, Lymphopenia, Decreased proportion of CD4-... |
OMIM:619573 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Microangiopathic hemolytic anemia, Reticu... |
OMIM:235400 |
Hydrolethalus Syndrome 1 |
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Upper limb undergrowth, Preaxial hand polydactyly, Proximal tibial hypoplasia, Duplication of pha... |
OMIM:236680 |
Tetraamelia Syndrome 1 |
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Asplenia, Hypoplastic pelvis, Urethral atresia, Adrenal gland agenesis |
OMIM:273395 |
Cushing Disease |
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Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Increased circulating... |
ORPHA:96253 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Hypercholesterolemia, Hyperinsulinemia, Coxa valga, Acroosteolysis of distal phalanges (feet), Ca... |
OMIM:248370 |
Neutral Lipid Storage Myopathy |
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Abnormal circulating creatine kinase concentration, Pineal cyst, Diabetes mellitus, Hepatomegaly,... |
ORPHA:98908 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
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Glycosuria, Hyperlipidemia, Ketonuria |
ORPHA:2089 |
Atypical Werner Syndrome |
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Osteolytic defects of the phalanges of the hand, Hyperinsulinemia, Hypertriglyceridemia, Abnormal... |
ORPHA:79474 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Short phalanx of finger, Hyperinsulinemia, Acroosteolysis of distal phalanges (feet), Stage 5 chr... |
OMIM:608612 |
Congenital Erythropoietic Porphyria |
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Leukopenia, Hemolytic anemia, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocytosi... |
ORPHA:79277 |
Wiedemann-Rautenstrauch Syndrome |
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Genu varum, Hypertriglyceridemia, Hypoplasia of the thymus, Hypoplastic ilia, Increased serum tes... |
OMIM:264090 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Abnormal lymph node morphology, Pituitary corticotropic cell adenoma, Decreased eosinophil count,... |
ORPHA:99889 |
Carnitine Palmitoyltransferase Ii Deficiency |
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Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... |
ORPHA:157 |
Doors Syndrome |
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11 pairs of ribs, Triphalangeal thumb, Short 5th finger, Abnormal finger morphology, Aplasia/Hypo... |
ORPHA:79500 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
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Thymus hyperplasia, Arachnodactyly |
OMIM:619036 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Tubulointerstitial nephritis, Elevated circulating acylcarnitine concentration, Decreased plasma ... |
ORPHA:228308 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Pulmonary carcinoid tumor, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Primary Lipodystrophy |
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Type II diabetes mellitus, Polycystic ovaries, Splenomegaly, Hyperlipidemia |
ORPHA:90970 |
Wiedemann-Rautenstrauch Syndrome |
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Camptodactyly of finger, 2-3 toe syndactyly, Dilatation of renal calices, Short humerus, Short fe... |
ORPHA:3455 |
Glycogen Storage Disease Ia |
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Hyperuricemia, Enlarged kidney, Delayed puberty, Decreased glomerular filtration rate, Hepatomega... |
OMIM:232200 |
Parenteral Nutrition-Associated Cholestasis |
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Biliary hyperplasia, Abnormal circulating fatty-acid concentration, Hepatomegaly, Cholelithiasis,... |
ORPHA:567983 |
Aapoaiv Amyloidosis |
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Abnormal renal medulla morphology, Glomerular sclerosis, Diabetes mellitus, Hyperlipidemia, Eleva... |
ORPHA:439232 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Hydrocele testis, Chronic kidn... |
ORPHA:567546 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
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Abnormal fingertip morphology, Acroosteolysis of distal phalanges (feet), Calcinosis, Delayed pub... |
ORPHA:90154 |
Congenital Analbuminemia |
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Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Aromatase Deficiency |
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Genu valgum, Enlarged polycystic ovaries, Type II diabetes mellitus, Macroorchidism, postpubertal... |
ORPHA:91 |
Craniorachischisis |
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Bifid sternum |
ORPHA:63260 |
Combined Deficiency Of Factor V And Factor Viii |
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Hyperuricemia, Hematuria, Hyperlipidemia |
ORPHA:35909 |
Glycogen Storage Disease Ic |
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Hyperuricemia, Hematuria, Delayed puberty, Decreased glomerular filtration rate, Cyclic neutropen... |
OMIM:232240 |
Woodhouse-Sakati Syndrome |
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Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular size, Diabet... |
OMIM:241080 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Acroosteolysis of distal phalanges (feet), Breast aplasia, Osteolytic defects of the distal phala... |
ORPHA:90153 |
Proteus Syndrome |
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Metatarsus valgus, Macroorchidism, Diabetes insipidus, Neoplasm of the thymus, Hallux valgus, Abn... |
ORPHA:744 |
Woodhouse-Sakati Syndrome |
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Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:3464 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypertriglyceridemia, Polyuria, Type I diabetes mellitus, Hypercholesterolemia |
OMIM:606721 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Elevated circulating creatine kinase concentration, Diabetes mellitus, Hepatomegaly, Hyperlipidem... |
ORPHA:565612 |
Familial Multiple Lipomatosis |
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Bowing of the long bones, Hyperlipidemia |
ORPHA:199276 |
Alström Syndrome |
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Hepatosplenomegaly, Glomerulonephritis, Decreased circulating T4 concentration, Hepatomegaly, Hyp... |
ORPHA:64 |
Porphyria, Acute Hepatic |
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Hemolytic anemia |
OMIM:612740 |
Fabry Disease |
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Diabetes insipidus, Anemia, Abnormal circulating lipid concentration, Nephrotic syndrome, Left ve... |
ORPHA:324 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Central hypothyroidism, Increased circulating prolactin concentration, Gonadotropin deficiency, D... |
ORPHA:293987 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Short 4th metacarpal, Increased circulating gonadotropin level, Abnormal forearm bone morphology,... |
ORPHA:99413 |
Turner Syndrome |
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Short 4th metacarpal, Increased circulating gonadotropin level, Abnormal forearm bone morphology,... |
ORPHA:881 |
Mosaic Monosomy X |
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Short 4th metacarpal, Increased circulating gonadotropin level, Abnormal forearm bone morphology,... |
ORPHA:99228 |
Monosomy X |
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Short 4th metacarpal, Increased circulating gonadotropin level, Abnormal forearm bone morphology,... |
ORPHA:99226 |
Coffin-Lowry Syndrome |
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Coxa valga, Tapered finger, Short metacarpal, Hyperextensibility of the finger joints, Narrow ili... |
OMIM:303600 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hyperlipidemia, Renal artery stenosis, Hypercholesterolemia |
ORPHA:391665 |
Porphyria Due To Ala Dehydratase Deficiency |
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Abnormal erythrocyte enzyme level, Myeloproliferative disorder |
ORPHA:100924 |