Atr-16 syndrome |
|
Abnormal erythrocyte morphology |
DECIPHER:65 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
Diamond-Blackfan Anemia-Like |
|
Steroid-responsive anemia, Pure red cell aplasia |
OMIM:617911 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
Diamond-Blackfan Anemia 19 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Anemia |
OMIM:618312 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Transient Erythroblastopenia Of Childhood |
|
Transient erythroblastopenia, Anemia |
OMIM:227050 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increas... |
OMIM:616860 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Anemia, Sideroblastic, 4 |
|
Abnormal erythrocyte morphology, Sideroblastic anemia |
OMIM:182170 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Increased circulati... |
ORPHA:766 |
Hemoglobin-Delta locus |
|
Imbalanced hemoglobin synthesis, Anemia |
OMIM:142000 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Heinz Body Anemias |
|
Nonspherocytic hemolytic anemia, Heinz bodies, Heinz body anemia |
OMIM:140700 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Anemia, Abnormality of iron homeostasis |
ORPHA:75563 |
Tn Polyagglutination Syndrome |
|
Abnormal erythrocyte morphology |
OMIM:300622 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia, Increased hepatic glyco... |
OMIM:232700 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... |
OMIM:603358 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Diamond-Blackfan Anemia 17 |
|
Anemia |
OMIM:617409 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Reticulocytopenia, A... |
ORPHA:300298 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... |
OMIM:231100 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Abnormal hemoglobin, Anemia |
ORPHA:231249 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Delta-Beta-Thalassemia |
|
Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231237 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hemophagocytosis, Granulocytopenia, Anemia |
OMIM:608898 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis, Hepatic steatosis |
OMIM:614480 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Woronets Trait |
|
Red blood cell keratocytosis |
OMIM:194320 |
Neonatal Hemochromatosis |
|
Increased circulating ferritin concentration, Increased serum iron, Congenital hepatic fibrosis, ... |
ORPHA:446 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... |
ORPHA:848 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
ORPHA:79230 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Dietary Iron Overload Disease |
|
Hepatic steatosis, Hepatomegaly, Viral hepatitis, Increased circulating ferritin concentration, E... |
ORPHA:139507 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
OMIM:604250 |
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin |
|
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production |
OMIM:603529 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Anisocytosis, Abnormal erythrocyte morphology, Melena, Increased s... |
ORPHA:98870 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia |
ORPHA:231242 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... |
ORPHA:231222 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... |
OMIM:212050 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Papular Xanthoma |
|
Hyperlipidemia, Histiocytosis |
ORPHA:158008 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
OMIM:603552 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly, Anemia |
ORPHA:294 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... |
OMIM:603902 |
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 |
Adenylate Kinase Deficiency, Hemolytic Anemia Due To |
|
Hemolytic anemia |
OMIM:612631 |
Hemolytic Anemia With Thermal Sensitivity Of Red Cells |
|
Congenital hemolytic anemia |
OMIM:235370 |
Hemoglobin--Variants For Which The Chain Carrying The Mutation Is Unknown Or Uncertain |
|
Compensated hemolytic anemia |
OMIM:142309 |
6-Phosphogluconolactonase Deficiency |
|
Hemolytic anemia |
OMIM:172150 |
Adenosine Triphosphate, Elevated, Of Erythrocytes |
|
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia |
OMIM:102900 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr... |
OMIM:606069 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Compensated hemolytic anemia |
OMIM:614164 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia |
ORPHA:75234 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... |
OMIM:612526 |
Chromosome 5Q Deletion Syndrome |
|
Erythroid hypoplasia, Anemia of inadequate production, Refractory macrocytic anemia |
OMIM:153550 |
Mednik Syndrome |
|
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... |
ORPHA:171851 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Hemoglobin H Disease |
|
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin |
OMIM:613978 |
Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Hepatic steatosis, V... |
ORPHA:101330 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... |
OMIM:602390 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:615703 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia |
OMIM:245900 |
Aceruloplasminemia |
|
Anemia, Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron |
OMIM:604290 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Immunodeficiency 109 With Lymphoproliferation |
|
Pancytopenia, Generalized lymphadenopathy, Hypertriglyceridemia, Splenomegaly, Absent circulating... |
OMIM:620282 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce... |
OMIM:610717 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Increased circulating ferritin... |
OMIM:300635 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Anemia |
OMIM:121270 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
Beta-Thalassemia |
|
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Aceruloplasminemia |
|
Refractory anemia, Decreased circulating ceruloplasmin concentration, Decreased circulating coppe... |
ORPHA:48818 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia |
OMIM:300448 |
Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Copper accumulation in liver, Anemia, Elevated hepatic iron concentration, Increased hepatic glyc... |
OMIM:614946 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
Ovalocytosis, Hereditary Hemolytic, With Defective Erythropoiesis |
|
Hemolytic anemia, Elliptocytosis, Anemia of inadequate production |
OMIM:166910 |
Irida Syndrome |
|
Intrahepatic cholestasis, Decreased circulating copper concentration, Abnormal intestine morphology |
ORPHA:209981 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Anemia, Congenital Dyserythropoietic, Type Iiib, Autosomal Recessive |
|
Macrocytic anemia, Macrocytic dyserythropoietic anemia |
OMIM:619789 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Spherocytosis, Type 3 |
|
Hemolytic anemia, Spherocytosis |
OMIM:270970 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:231393 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
Familial Benign Copper Deficiency |
|
Decreased circulating copper concentration, Anemia |
ORPHA:1551 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Iron-Refractory Iron Deficiency Anemia |
|
Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis |
OMIM:206200 |
Pyropoikilocytosis, Hereditary |
|
Pyropoikilocytosis, Hemolytic anemia, Microspherocytosis, Elliptocytosis |
OMIM:266140 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion |
OMIM:183350 |
Asplenia, Isolated Congenital |
|
Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia |
ORPHA:46532 |
Ovalocytosis, Southeast Asian |
|
Hemolytic anemia, Elliptocytosis |
OMIM:166900 |
Beta-Thalassemia Major |
|
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... |
ORPHA:231214 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N... |
OMIM:214900 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased h... |
OMIM:613027 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... |
ORPHA:158057 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Hyperammonemia, Ballooning hepatocyte degeneration, Hy... |
OMIM:603471 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Increased C-peptide level |
OMIM:615238 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Cholestasis, Increased serum... |
OMIM:620010 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acanthocytosis, Decreased LDL chol... |
OMIM:615558 |
Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Hepatomegaly |
OMIM:601979 |
Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Hypertriglyceridemia, Cholelithiasis |
OMIM:177000 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:278000 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
Erythrocytosis, Familial, 3 |
|
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin |
OMIM:609820 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Splenomegaly |
OMIM:619813 |
Erythrocytosis, Familial, 7 |
|
Increased hematocrit, Polycythemia |
OMIM:617981 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Decreased serum iron, Chronic hepatitis, Colitis, Cirrhosis |
OMIM:614602 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... |
ORPHA:158061 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:617395 |
Cryohydrocytosis |
|
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis |
OMIM:185020 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Erythrocytosis, Familial, 6 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617980 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly, Lymphocytosis |
OMIM:606445 |
Immunodeficiency 16 |
|
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia |
OMIM:615593 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Cog2-Cdg |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... |
ORPHA:435934 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cholangiocarcinoma, Hepatomegaly, Portal hypertension, Increased circulating ferritin concentrati... |
ORPHA:465508 |
Red Cell Permeability Defect |
|
Elliptocytosis |
OMIM:179650 |
Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Spleno... |
OMIM:235200 |
Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis |
OMIM:619013 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia |
OMIM:608600 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hypertriglyceridemia, Hepatic fibrosis |
ORPHA:280356 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... |
OMIM:133180 |
Erythrocytosis, Familial, 8 |
|
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:222800 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Huppke-Brendel Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Galactosemia Iii |
|
Splenomegaly, Hepatomegaly, Jaundice, Hypergalactosemia |
OMIM:230350 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... |
ORPHA:3202 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida |
ORPHA:2476 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co... |
OMIM:603553 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hypocalcemia, Hepatic bridging fibrosis, E... |
OMIM:619658 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Increased mean platelet volume, Abnormality of the pancreas, Splen... |
OMIM:222470 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypocalcemia, Ascites, Anemia |
ORPHA:100025 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
Tyrosinemia Type 1 |
|
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
Erythrocytosis, Familial, 5 |
|
Increased hematocrit, Polycythemia, Increased hemoglobin |
OMIM:617907 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia |
OMIM:610539 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... |
ORPHA:444463 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... |
ORPHA:209902 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:79085 |
Syndromic Diarrhea |
|
Hepatomegaly, Villous atrophy, Gastritis, Increased mean platelet volume, Splenomegaly, Abnormali... |
ORPHA:84064 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hyperlipidemia, Jaundice, Biliary tract abnormal... |
ORPHA:1414 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Reticulocytosis |
OMIM:130600 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatic stea... |
ORPHA:247585 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Decreased serum iron, Esophageal stricture, Dysphagia, Anemia,... |
ORPHA:89842 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Decreased hemoglobin concentration, Circulating nucleated red blood cells, Hemolyti... |
OMIM:613673 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Alpha-1-Antitrypsin Deficiency |
|
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hyperammonemia |
ORPHA:664 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia |
OMIM:617441 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:540 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hypocalcemia |
ORPHA:172 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Portal Hypertension, Noncirrhotic, 1 |
|
Splenomegaly, Hepatomegaly, Portal hypertension |
OMIM:617068 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... |
ORPHA:328 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia |
OMIM:261750 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Ascites, Hypoalbuminemia, Anemia |
OMIM:603278 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Sp... |
OMIM:618892 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration |
ORPHA:521411 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Decreased serum iron |
ORPHA:391372 |
Trimethylaminuria |
|
Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... |
ORPHA:567548 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Hypocalcemia, Lym... |
OMIM:619991 |
Glut1 Deficiency Syndrome 2 |
|
Splenomegaly, Hemolytic anemia, Reduced haptoglobin level, Reticulocytosis |
OMIM:612126 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Cirrhosis |
ORPHA:363400 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Cirrhosis, Hepatic ... |
OMIM:604367 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Elevated circulating creatine kinase conce... |
ORPHA:435660 |
Immunodeficiency 42 |
|
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus |
OMIM:616622 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hyperlipidemia, Hepatic fibrosis, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... |
ORPHA:79477 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis |
ORPHA:66661 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder |
OMIM:607685 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... |
ORPHA:158048 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis |
OMIM:269600 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Unconjugated hyperbilirubine... |
OMIM:300908 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Cirrhosis, Hepatic steatosis, Pa... |
ORPHA:79083 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Decreased circu... |
OMIM:300972 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Acanthocytosis, Increased hepatocellular lipid droplets, Steatorrhea, Hypoc... |
ORPHA:71 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... |
OMIM:242150 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Abnormal ... |
ORPHA:264580 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
Immunodeficiency 84 |
|
Splenomegaly, B lymphocytopenia |
OMIM:619437 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Recurrent... |
ORPHA:444490 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... |
OMIM:209950 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
ORPHA:79240 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Immunodeficiency 48 |
|
Absence of CD8-positive T cells, Hepatomegaly, Splenomegaly |
OMIM:269840 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia,... |
OMIM:617591 |
Neural Tube Defects, Susceptibility To |
|
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly |
OMIM:182940 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... |
OMIM:617093 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Decreased serum iron, Abnorma... |
ORPHA:447 |
Acalvaria |
|
Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
|
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Cirrhosis, Hypercholesterolemia, Hepatic steatosis, Increased... |
ORPHA:528 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Thrombocy... |
ORPHA:31150 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Leukocytosis, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... |
OMIM:602347 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaun... |
OMIM:607765 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi... |
OMIM:194380 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Hyperbilirubinemia, Steatorrhea |
OMIM:235555 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Spina bifida, Mitral valve prolapse |
OMIM:211960 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... |
ORPHA:541423 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... |
OMIM:615559 |
Thoraco-Abdominal Enteric Duplication |
|
Meningocele, Abnormal tricuspid valve morphology, Dextrocardia |
ORPHA:1759 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
OMIM:615381 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Microvesicular hepatic steatosis, High palate, Cirrhosis, Elevated hepatic iron con... |
OMIM:300868 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... |
OMIM:615631 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia |
OMIM:619164 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia |
ORPHA:100024 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... |
OMIM:615513 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Hepatic steatosis, Elevated circulating... |
OMIM:615980 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hyperlipidemia, Portal fibrosis, Hepatic fibrosis, Cirrhosis, Hepatocellular carcin... |
ORPHA:369 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent... |
OMIM:601847 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hyperpro... |
ORPHA:90041 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... |
ORPHA:64743 |
Reni Syndrome |
|
Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
|
Splenomegaly, Increased B cell count |
OMIM:616452 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Hypoalbuminemia, Hepati... |
OMIM:277900 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... |
OMIM:616050 |
Thrombocythemia 1 |
|
Splenomegaly, Thrombocytosis |
OMIM:187950 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia |
ORPHA:231401 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Abnormal granulocyte morphology, Abno... |
ORPHA:98907 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Microvesicular hepatic steatosis, Splenomeg... |
OMIM:619418 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Lymph... |
ORPHA:507 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
ORPHA:85414 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Splenomeg... |
OMIM:613327 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulating serine co... |
ORPHA:470 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele |
ORPHA:101030 |
Craniorachischisis |
|
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism |
ORPHA:63260 |
Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia |
ORPHA:66628 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... |
OMIM:611134 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98853 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Hypophosphatemia, Abnormal hepatic glycogen storage, Hepatoce... |
ORPHA:2088 |
Acquired Purpura Fulminans |
|
Shock, Elevated circulating C-reactive protein concentration, Intracranial hemorrhage, Prolonged ... |
ORPHA:49566 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... |
ORPHA:167 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Hypertriglyceridemia |
ORPHA:179494 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Hepatomegaly, Decreased serum zinc |
OMIM:201100 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Cirrhosis, Abnormal circulating lipid con... |
ORPHA:79086 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90037 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... |
OMIM:211600 |
Rhabdoid Tumor |
|
Hypertension, Hypercalcemia, Internal hemorrhage |
ORPHA:69077 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Microvesicular hepatic... |
ORPHA:275761 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Chronic active hepatitis, Hypertriglycerid... |
OMIM:203800 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, Biliary hyperplasia, Hyperlipid... |
ORPHA:567983 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... |
OMIM:612840 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Internal hemorrhage, Prolonged prothrombin time, Gingival bleedin... |
ORPHA:335 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... |
OMIM:613812 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Autoimmune thrombocy... |
ORPHA:77293 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Schisis Association |
|
Encephalocele, Anencephaly, Spina bifida |
ORPHA:63862 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Ascites |
OMIM:618183 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Steatorrhea, Exocrine panc... |
OMIM:612714 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... |
ORPHA:381 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration |
OMIM:620306 |
Adult-Onset Still Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-reactive protein ... |
ORPHA:829 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur... |
ORPHA:90308 |
Wolman Disease |
|
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Steatorrhea, Ascites, Anemia |
ORPHA:75233 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... |
OMIM:601859 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation |
OMIM:618042 |
Elliptocytosis 1 |
|
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis |
OMIM:611804 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepati... |
ORPHA:280365 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Hydrocephalus, Spina bifida |
OMIM:207950 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... |
OMIM:619375 |
Portal Hypertension, Noncirrhotic, 2 |
|
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... |
OMIM:619463 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Nevus Comedonicus Syndrome |
|
Spina bifida occulta, Spina bifida |
ORPHA:64754 |
Isolated Posterior Meningocele |
|
Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia, Occipital meni... |
ORPHA:268810 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:231154 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
H Syndrome |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy, Enlarged kidney, Hi... |
ORPHA:168569 |
Sea-Blue Histiocytosis |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia |
ORPHA:158029 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Acute pancreatitis, ... |
OMIM:151660 |
Caudal Duplication |
|
Myelomeningocele, Spina bifida |
ORPHA:1756 |
Polycythemia Vera |
|
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... |
OMIM:263300 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Hypertriglyceridemia, Hepatic steatosis, Elevated hemoglobin A1c |
OMIM:617253 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Cholelithias... |
OMIM:611881 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Hepatocellular adenoma, ... |
ORPHA:79259 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Hyperammonemia, Hepatic bridging fibrosis, Hep... |
OMIM:618641 |
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Splenomegaly, Pancytopenia |
OMIM:614979 |
Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Hepatomegaly, Hypertriglyceridemi... |
OMIM:619573 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Wildervanck Syndrome |
|
Meningocele |
ORPHA:3456 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome... |
OMIM:251880 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
High nonceruloplasmin-bound serum copper, Thrombocytopenia |
ORPHA:457351 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Holoprosencephaly |
ORPHA:588 |
Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Spina bifida |
ORPHA:2345 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Spina bifida, Anomalous pulmonary venous return, Abnormal aortic valve mor... |
ORPHA:1120 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia |
ORPHA:163596 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Abnormal circulating creatine kinase co... |
ORPHA:98908 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis |
ORPHA:66518 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Slc39A8-Cdg |
|
Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc concentration |
ORPHA:468699 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... |
ORPHA:53035 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Meningocele, Anencephaly |
OMIM:603194 |
Humero-Radial Synostosis |
|
Meningocele |
ORPHA:3265 |
Sacral Defect With Anterior Meningocele |
|
Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hydromyelia |
OMIM:600145 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Splenomegaly, Ci... |
OMIM:269700 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Splenomegaly, Cirrhosis, Hepatic steatosis |
OMIM:608594 |
Acropectorovertebral Dysplasia |
|
Spina bifida |
ORPHA:957 |
Triploidy |
|
Polyhydramnios, Hydrocephalus, Meningocele, Abnormal cardiac septum morphology, Holoprosencephaly |
ORPHA:3376 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Lym... |
OMIM:602450 |
Czeizel-Losonci Syndrome |
|
Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus, Spina bifida occulta |
ORPHA:2437 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Anemia |
OMIM:620296 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... |
OMIM:301078 |
Hereditary Spherocytosis |
|
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... |
ORPHA:822 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Hyperlipidemia, Xanthe... |
OMIM:232220 |
Myelofibrosis |
|
Splenomegaly, Myeloproliferative disorder |
OMIM:254450 |
Hemorrhagic Fever-Renal Syndrome |
|
Shock, Tachycardia, Epistaxis, Hematemesis, Elevated circulating creatinine concentration, Hyperk... |
ORPHA:340 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Abnormal intrahepatic bile duct morphology, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Budd-Chiari Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... |
ORPHA:131 |
Fountain Syndrome |
|
Facial edema, Spina bifida occulta, Spina bifida |
ORPHA:3219 |
Iniencephaly |
|
Encephalocele, Spina bifida, Polyhydramnios, Hydrocephalus, Myelomeningocele, Anencephaly, Spinal... |
ORPHA:63259 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... |
ORPHA:99827 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Spina bifida |
ORPHA:1327 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hyperglycerolemia, Chronic pancreatitis |
OMIM:307030 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Elevated circulating... |
OMIM:256040 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hyperlipidemia, V... |
ORPHA:565612 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Joubert Syndrome 14 |
|
Encephalocele, Hydrocephalus, Meningocele, Ventricular septal defect |
OMIM:614424 |
Anophthalmia Plus Syndrome |
|
Spina bifida |
ORPHA:1104 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Anal fissure, Gastrointestinal inflammation, Anemia, Iron deficiency anemia, Decreased serum zinc... |
ORPHA:79408 |
Wiskott-Aldrich Syndrome |
|
Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He... |
ORPHA:906 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Isolated Biliary Atresia |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
Cerebrocostomandibular Syndrome |
|
Ventricular septal defect, Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly |
ORPHA:1393 |
Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Polyhydramnios, Spina bifida, Abnormal heart valve morph... |
ORPHA:99776 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Umbilical hernia, Meningocele, Spina bifida occulta, Anomalous pulmonary venous return |
ORPHA:2311 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hepatocellular carcinoma, Cholestasis, Reduced number of intrahepatic bile ... |
OMIM:118450 |
Marburg Hemorrhagic Fever |
|
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Elevated circulating creatine kinase concent... |
ORPHA:99826 |
Neu-Laxova Syndrome 2 |
|
Polyhydramnios, Spina bifida, Edema |
OMIM:616038 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Spina bifida |
ORPHA:894 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated hemoglobin A1c, Macrovesicular hepatic steatosis, Le... |
OMIM:619127 |
Sirenomelia |
|
Spina bifida, Sirenomelia |
ORPHA:3169 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatocellular carcinoma, Pancreatitis,... |
OMIM:232200 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Hepatocellu... |
OMIM:276700 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Anemia, Gastroesophageal reflux, Decreased serum iron, Dysphagia |
ORPHA:438213 |
Occipital Horn Syndrome |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hi... |
OMIM:304150 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Limb Body Wall Complex |
|
Encephalocele, Ventricular septal defect, Spina bifida, Myelomeningocele, Hydrocephalus, Anenceph... |
ORPHA:2369 |
Neurocutaneous Melanocytosis |
|
Meningocele |
ORPHA:2481 |
Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Hydrocephalus, Meningocele, Umbilical hernia |
OMIM:130720 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Hydrocephalus, Anencephaly, Hydrops fetalis, Atrial septal defect, Occipital meni... |
OMIM:616546 |
Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Hydrocephalus, Spina bifida |
ORPHA:2839 |
Yellow Fever |
|
Abnormal bleeding, Shock, Elevated circulating creatine kinase concentration, Supraventricular ar... |
ORPHA:99829 |
Reynolds Syndrome |
|
Calcinosis, Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Hyperbilirubine... |
OMIM:613471 |
Lateral Meningocele Syndrome |
|
Umbilical hernia, Meningocele, Ventricular septal defect |
ORPHA:2789 |
Chromosome 17P13.1 Deletion Syndrome |
|
Umbilical hernia, Hydrocephalus, Spina bifida, Oligohydramnios |
OMIM:613776 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Meningocele |
ORPHA:2031 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemi... |
OMIM:232240 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia, Incre... |
ORPHA:189427 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Meningocele |
ORPHA:2003 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele |
ORPHA:1827 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Lymphedema |
ORPHA:2874 |
Trisomy 18 |
|
Ventricular septal defect, Spina bifida, Anencephaly, Holoprosencephaly, Atrial septal defect, Ol... |
ORPHA:3380 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Hellp Syndrome |
|
Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension |
ORPHA:244242 |
Acute Transverse Myelitis |
|
Paralytic ileus, Decreased circulating copper concentration |
ORPHA:139417 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hydrocephalus, Polyhydramnios, Spina bifida |
ORPHA:3412 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia, Recurrent pancreatitis |
OMIM:606721 |
Pagod Syndrome |
|
Encephalocele, Spina bifida, Situs inversus totalis, Meningocele, Hypoplastic left heart |
ORPHA:991 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Ascites, Hypoalbuminemia |
ORPHA:567546 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Hypoplasia of the thymus |
OMIM:264090 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:79474 |
Trisomy 20P |
|
Umbilical hernia, Spina bifida |
ORPHA:261318 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia |
ORPHA:199276 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Superficial Siderosis |
|
Abnormal bleeding, Persistent bleeding after trauma, Internal hemorrhage, Subarachnoid hemorrhage |
ORPHA:247245 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Spina bifida, Stillbirth, Short umbilical cord, Small ... |
OMIM:256520 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia, Hepatomegaly |
OMIM:248370 |
Focal Dermal Hypoplasia |
|
Umbilical hernia, Abnormal cardiac septum morphology, Ventricular septal defect, Spina bifida |
ORPHA:2092 |
Neu-Laxova Syndrome |
|
Polyhydramnios, Spina bifida |
ORPHA:2671 |
Fibular Hemimelia |
|
Spina bifida, Abnormal heart morphology |
ORPHA:93323 |
22Q11.2 Deletion Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Spina bifida, Polyhydramnios, Hyd... |
ORPHA:567 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia |
ORPHA:90154 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Meningocele |
ORPHA:397715 |
Basal Cell Nevus Syndrome 1 |
|
Cardiac rhabdomyoma, Hydrocephalus, Cardiac fibroma, Spina bifida |
OMIM:109400 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal defect, Perimembranou... |
ORPHA:508498 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:3455 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Spina bifida, Edema of the dorsum of hand... |
OMIM:274000 |
Waardenburg Syndrome, Type 1 |
|
Myelomeningocele, Spina bifida |
OMIM:193500 |
Phocomelia, Schinzel Type |
|
Meningocele, Hydrops fetalis |
ORPHA:2879 |
Cloacal Exstrophy |
|
Myelomeningocele, Spina bifida |
ORPHA:93929 |
Nail-Patella Syndrome |
|
Spina bifida |
OMIM:161200 |
Fanconi Anemia |
|
Spina bifida, Hydrocephalus, Abnormal cardiac septum morphology, Abnormal aortic valve morphology... |
ORPHA:84 |
Curry-Jones Syndrome |
|
Occipital meningocele, Lipomyelomeningocele |
OMIM:601707 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Spina bifida, Hydrocephalus, Abnormal heart mor... |
ORPHA:363958 |
Split Cord Malformation |
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Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydrocephalus, Hydrom... |
ORPHA:573278 |
Wrinkly Skin Syndrome |
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High palate, High nonceruloplasmin-bound serum copper |
ORPHA:2834 |
Lathosterolosis |
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Meningocele |
ORPHA:46059 |
Hallermann-Streiff Syndrome |
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Spina bifida |
OMIM:234100 |
Orofaciodigital Syndrome Vi |
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Occipital meningocele, Hypoplastic left heart |
OMIM:277170 |
Jacobsen Syndrome |
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Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Spina bifida |
ORPHA:2308 |
Aromatase Deficiency |
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Enlarged polycystic ovaries, Hyperlipidemia, Hepatic steatosis |
ORPHA:91 |
Campomelic Dysplasia |
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Polyhydramnios, Spina bifida, Hydrocephalus, Abnormal heart morphology, Spinal dysraphism |
OMIM:114290 |
Rubinstein-Taybi Syndrome 1 |
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Ventricular septal defect, Spina bifida, Polyhydramnios, Mitral valve prolapse, Perimembranous ve... |
OMIM:180849 |
Holoprosencephaly 7 |
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Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... |
OMIM:610828 |
Neurofibromatosis, Type I |
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Aqueductal stenosis, Hydrocephalus, Spina bifida |
OMIM:162200 |
Alström Syndrome |
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Hepatomegaly, Hypertriglyceridemia, Portal hypertension, Splenomegaly, Hyperlipidemia, Hepatitis,... |
ORPHA:64 |
Vater/Vacterl Association |
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Occipital encephalocele, Ventricular septal defect, Spina bifida, Transposition of the great arte... |
OMIM:192350 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Atrioventricular canal defect, Spina bifida |
OMIM:619480 |
Marfan Syndrome |
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Mitral valve calcification, Meningocele, Mitral valve prolapse |
ORPHA:558 |
Aicardi Syndrome |
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Spina bifida |
OMIM:304050 |
Tuberous Sclerosis Complex |
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Hypertension, Internal hemorrhage |
ORPHA:805 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
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Meningocele |
ORPHA:1010 |
Vascular Ehlers-Danlos Syndrome |
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Abnormal bleeding, Telangiectasia of the skin, Transient ischemic attack, Short stature, Renovasc... |
ORPHA:286 |
Knobloch Syndrome 1 |
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Occipital meningocele, Occipital encephalocele, Spina bifida occulta |
OMIM:267750 |
Otopalatodigital Syndrome, Type Ii |
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Spina bifida, Hydrocephalus, Stillbirth, Atrial septal defect, Umbilical hernia |
OMIM:304120 |
Arima Syndrome |
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Occipital meningocele |
OMIM:243910 |
Exstrophy-Epispadias Complex |
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Hydrocephalus, Spina bifida, Abnormal heart morphology |
ORPHA:322 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis |
ORPHA:391665 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Occipital meningocele |
OMIM:276820 |