Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Cervical Rib |
|
Cervical ribs |
OMIM:117900 |
Fish-Eye Disease |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:136120 |
Polycystic Kidney Disease 5 |
|
Hepatosplenomegaly, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney,... |
OMIM:617610 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Enlarged kidney, Anemia, Extramedullary hematopoiesis, Hepatomegaly, Failure to thriv... |
OMIM:615285 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:253240 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Hepatorenocardiac Degenerative Fibrosis |
|
Hepatosplenomegaly, Renal interstitial fibrosis, Hepatocellular carcinoma, Jaundice, Enlarged kid... |
OMIM:619902 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Nephronophthisis 16 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kid... |
OMIM:615382 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:615872 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... |
ORPHA:79506 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Scoliosis, Elevated circulating cr... |
OMIM:616516 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R... |
ORPHA:93109 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Recurrent bronchitis, Atelectasis |
OMIM:300455 |
Immunodeficiency, Common Variable, 6 |
|
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Autoimmune t... |
OMIM:613496 |
Glycoprotein Storage Disease |
|
Splenomegaly |
OMIM:232900 |
Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia, Neonatal death |
OMIM:265430 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent lower respiratory tract infections, Recurrent pneumonia, Bronchiectasis, R... |
OMIM:616726 |
Ciliary Dyskinesia, Primary, 21 |
|
Recurrent pneumonia, Bronchiectasis, Atelectasis |
OMIM:615294 |
Bardet-Biedl Syndrome 11 |
|
Abnormality of the kidney, Obesity |
OMIM:615988 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Bronchiectasis, Atelectasis |
OMIM:619466 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Obesity |
OMIM:615991 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Morbid Obesity And Spermatogenic Failure |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration |
OMIM:610947 |
Bardet-Biedl Syndrome 10 |
|
Obesity, Renal insufficiency, Renal cyst |
OMIM:615987 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Obesity |
OMIM:615995 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly, Elevated urinary delta-aminolevulinic acid |
OMIM:206400 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... |
OMIM:144250 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Overgrowth, Nephroblastoma, Large for gestational age, Enlarged kidney |
OMIM:618272 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly, Obesity |
ORPHA:88643 |
Hemoglobin H Disease |
|
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly |
OMIM:613978 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Hypoplastic left heart, Ventricular septal defect, Atrial septal defect, Renal in... |
OMIM:615996 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Acute kidney injury, Enlarged kidney, Chronic kidney dise... |
ORPHA:85445 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia |
ORPHA:46532 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Enlarged kidney, Pulmonic stenosis, Asplenia, Cholestasis, Hepatic fibros... |
OMIM:615415 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
Nephronophthisis 2 |
|
Renal cortical microcysts, Chronic tubulointerstitial nephritis, Absence of renal corticomedullar... |
OMIM:602088 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion |
OMIM:183350 |
Meconium Aspiration Syndrome |
|
Transient pulmonary infiltrates, Aspiration pneumonia, Atelectasis, Intrauterine growth retardati... |
ORPHA:70588 |
Renal Dysplasia |
|
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... |
ORPHA:93108 |
Hepatic Veno-Occlusive Disease |
|
Jaundice, Renal insufficiency, Hepatomegaly, Increased body weight, Ascites |
ORPHA:890 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Polycystic kidney dysplasia, Enlarged kidney, ... |
OMIM:263200 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Recurrent pancreatitis, Splenomegaly |
OMIM:118830 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Acute Interstitial Pneumonia |
|
Ground-glass opacification, Reticulonodular pattern on pulmonary HRCT, Pleural effusion, Atelecta... |
ORPHA:79126 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Pancreatic islet-cell hyperplasia, Nesidioblastosis, Large for gestational age |
OMIM:601820 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Atelectasis |
OMIM:267450 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:256450 |
Niemann-Pick Disease, Type B |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:607616 |
Familial Nasal Acilia |
|
Bronchiectasis, Atelectasis, Recurrent upper respiratory tract infections |
ORPHA:922 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Situs inversus totalis, Polycystic kidney dysplasia, Enlarged kidney, Atrial septal defect, Chole... |
OMIM:208540 |
Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Carcinoma Of Esophagus |
|
Lymphadenopathy, Weight loss, Obesity |
ORPHA:70482 |
Hypereosinophilic Syndrome, Idiopathic |
|
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia, Restrictive cardiomyopathy... |
OMIM:607685 |
Nephronophthisis 19 |
|
Renal interstitial fibrosis, Stage 5 chronic kidney disease, Cholestasis, Bile duct proliferation... |
OMIM:616217 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy, Obesity |
ORPHA:99976 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Hepatomegaly, Splenomegaly, Lymphocytosis |
OMIM:606445 |
Bardet-Biedl Syndrome 16 |
|
Stage 5 chronic kidney disease, Renal cyst, Renal insufficiency, Renal dysplasia, Renal agenesis,... |
OMIM:615993 |
Mu-Heavy Chain Disease |
|
Abnormal B cell count, Bence Jones Proteinuria, Anemia, Hepatomegaly, Nephropathy, Lymphadenopath... |
ORPHA:100024 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia |
OMIM:617885 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Immunodeficiency 16 |
|
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia |
OMIM:615593 |
Bronchopulmonary Dysplasia |
|
Abnormal lung morphology, Pulmonary sequestration, Atelectasis, Emphysema |
ORPHA:70589 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... |
OMIM:603902 |
Mast Cell Sarcoma |
|
Mastocytosis, Hepatomegaly, Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly, Weight loss |
ORPHA:66661 |
Asbestos Intoxication |
|
Ground-glass opacification, Atelectasis, Interlobular septal thickening, Pulmonary fibrosis, Pleu... |
ORPHA:2302 |
Bardet-Biedl Syndrome 8 |
|
Renal dysplasia, Situs inversus totalis, Obesity, Hypospadias |
OMIM:615985 |
Tyrosinemia Type 1 |
|
Hepatocellular carcinoma, Hepatomegaly, Splenomegaly, Generalized aminoaciduria |
ORPHA:882 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Hyperechogenic kidneys, Pericardial effusion, Enlarged kidney |
OMIM:613885 |
Erythroleukemia, Familial, Susceptibility To |
|
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... |
OMIM:133180 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
OMIM:618620 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... |
OMIM:615558 |
Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Polycystic liver disease, Stage 5 chronic kidney disease, Enl... |
ORPHA:730 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231242 |
Immunodeficiency 69 |
|
Hepatosplenomegaly, Leukocytosis, Anemia, Failure to thrive, Pancytopenia, Thrombocytosis, Spleno... |
OMIM:618963 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia |
OMIM:612526 |
Hyperbilirubinemia, Shunt, Primary |
|
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... |
OMIM:237800 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... |
OMIM:207750 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Ground-glass opacification, Recurrent respiratory infections, Atelectasis, Pulmonary fibrosis, El... |
OMIM:610978 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Small for gestational age, Atrial septal defect, Anemia, Perimembranous ventricular septal defect... |
OMIM:620135 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:603552 |
Amyloidosis, Familial Visceral |
|
Proteinuria, Cholestasis, Nephropathy, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly |
OMIM:105200 |
Attrv30M Amyloidosis |
|
Abnormal renal physiology, Cardiomyopathy, Nephropathy, Cardiomegaly, Weight loss |
ORPHA:85447 |
Bronchogenic Cyst |
|
Atelectasis, Abnormal pleura morphology, Bronchogenic cyst, Pulmonary cyst, Pneumonia, Abnormal p... |
ORPHA:2357 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Atelectasis, Hypersensitivity pneumonitis, Parenchymal consolidation, Pleural effusion, Abnormal ... |
ORPHA:2902 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Infant Acute Respiratory Distress Syndrome |
|
Pulmonary edema, Respiratory tract infection, Pneumonia, Atelectasis |
ORPHA:70587 |
Red Cell Phospholipid Defect With Hemolysis |
|
Intermittent jaundice, Splenomegaly, Reticulocytosis |
OMIM:179700 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
OMIM:615863 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Obesity |
OMIM:240900 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis |
ORPHA:254361 |
Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Atelectasis, Neonatal death |
OMIM:300219 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:300635 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... |
OMIM:605814 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:613101 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity |
OMIM:184700 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Scoliosis, Hypoalbuminemia |
OMIM:619013 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Bronchitis, Atelectasis, Recurrent pneumonia, Pneumonia |
ORPHA:3348 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hypoplastic left heart, Enlarged kidney, Ventricular septal defect, Horseshoe kidney, Atrial sept... |
OMIM:306955 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Proteinuria, Leukopenia, Enlarged kidney, Atrial septal defect, Anemia, Bo... |
OMIM:617303 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Supernumerary ribs, Six lumbar vertebrae |
OMIM:619122 |
Recurrent Respiratory Papillomatosis |
|
Recurrent pneumonia, Abnormal lung morphology, Atelectasis, Recurrent upper respiratory tract inf... |
ORPHA:60032 |
Obesity And Hypopigmentation |
|
Overgrowth, Hepatic steatosis, Obesity |
OMIM:620195 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Scoliosis, Kyphosis, Elevated circulating creatine kinas... |
ORPHA:98855 |
Nephronophthisis 15 |
|
Nephronophthisis, Obesity |
OMIM:614845 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Scoliosis, Vertebral fusion, Supernumerary vertebrae, Short neck, Hemivertebrae, Block vertebrae |
OMIM:271520 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Scoliosis, Short neck, Kyphosis, Elevated circulating cr... |
ORPHA:98863 |
Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Enlarged kidney, Abnormal spleen morphology, Anemia, Multiple renal cysts, Ab... |
ORPHA:464329 |
Portal Hypertension, Noncirrhotic, 1 |
|
Portal hypertension, Hepatomegaly, Splenomegaly |
OMIM:617068 |
Lcat Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... |
ORPHA:650 |
Bardet-Biedl Syndrome 4 |
|
Obesity, Abnormality of the kidney, Renal cyst |
OMIM:615982 |
Temple Syndrome |
|
Hypertriglyceridemia, Scoliosis, Hypercholesterolemia |
OMIM:616222 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hypertriglyceridemia |
OMIM:608600 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Episodic hemolytic anemia, Proteinuria, Enlarged kidney, Macroscopic hematuria, Membranoprolifera... |
ORPHA:251004 |
Tyrosinemia, Type I |
|
Hepatocellular carcinoma, Nephrocalcinosis, Enlarged kidney, Anemia, Renal Fanconi syndrome, Rena... |
OMIM:276700 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Scoliosis, Kyphosis, Elevated circulating creatine kinas... |
ORPHA:98853 |
Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Scoliosis, Kyphosis, Elevated circulating creatine kinas... |
ORPHA:261 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperargininemia, Hyperammonemia, Elevated plasma citrulline |
OMIM:603471 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Dextrocardia, Enlarged kidney, Atrioventricular canal defect, Urethral atresia, T... |
OMIM:314390 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:79085 |
Tangier Disease |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... |
OMIM:205400 |
Glycogen Storage Disease Ib |
|
Hepatocellular carcinoma, Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Pan... |
OMIM:232220 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Polycystic kidney dysplasia, Hydronephrosis, Enlarged kidney, Renal insufficiency, Hepatomegaly, ... |
OMIM:608836 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Scoliosis, Hypercholesterolemia |
OMIM:182290 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Scoliosis, Kyphosis |
OMIM:615381 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly |
OMIM:224100 |
Non Rare In Europe: Central Precocious Puberty |
|
Obesity, Overgrowth, Increased body weight |
ORPHA:759 |
Meacham Syndrome |
|
Dextrocardia, Hypoplastic left heart, Enlarged kidney, Atrial septal defect, Horseshoe kidney, Ve... |
OMIM:608978 |
Body Mass Index Quantitative Trait Locus 20 |
|
Tall stature, Obesity |
OMIM:618406 |
Beckwith-Wiedemann Syndrome |
|
Renal cortical cysts, Nephrocalcinosis, Enlarged kidney, Cardiomyopathy, Overgrowth, Hepatomegaly... |
OMIM:130650 |
Hyperlipoproteinemia, Type Id |
|
Decreased LDL cholesterol concentration, Hyperlipoproteinemia, Hypertriglyceridemia, Decreased HD... |
OMIM:615947 |
Bardet-Biedl Syndrome 2 |
|
Obesity, Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect |
OMIM:615981 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating lipid concentration, Increased LDL cholesterol concentration, Hyperammonemia... |
ORPHA:247598 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Increased total bilirubin, Hypertriglyc... |
OMIM:267700 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Atelectasis, Respiratory tract infection, Pulmonary situs amb... |
ORPHA:244 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperuricemia |
OMIM:604367 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:363400 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... |
ORPHA:567548 |
Waardenburg Syndrome Type 3 |
|
Atelectasis |
ORPHA:896 |
Wilson Disease |
|
Acute hepatitis, Jaundice, Anemia, Hepatomegaly, Cirrhosis, Failure to thrive, Hepatitis, Thrombo... |
ORPHA:905 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Postnatal growth retardation, Abnormal heart morphology, Obesity |
ORPHA:254525 |
Autosomal Recessive Polycystic Kidney Disease |
|
Polycystic kidney dysplasia, Enlarged kidney, Cholestasis, Recurrent urinary tract infections, He... |
ORPHA:731 |
Hyperlipoproteinemia, Type I |
|
Increased circulating chylomicron concentration, Hyperlipidemia, Hypercholesterolemia, Lactescent... |
OMIM:238600 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hyperbilirubinemia, Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated ... |
ORPHA:158057 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Small for gestational age, Ventricular septal defect, Overgrowth, Abnormal heart morphology, Post... |
ORPHA:254534 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:615812 |
Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Hepatic fibrosis, Hepatomegaly, Polysplenia, Pancreatic fibrosis, Cystic renal d... |
OMIM:200995 |
Citrullinemia Type Ii |
|
Hypoproteinemia, Acute hyperammonemia, Elevated plasma citrulline, Hypertriglyceridemia, Hyperlip... |
ORPHA:247585 |
Diaphanospondylodysostosis |
|
Enlarged kidney, Horseshoe kidney, Nephroblastomatosis, Abnormal liver lobulation, Cystic renal d... |
OMIM:608022 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:618398 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia |
ORPHA:435651 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Chronic kidney disease, Ventricular septal defect, Cholestasis, Hepatic fibrosis, Hepatomegaly, N... |
OMIM:615630 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Enlarged tonsils, Large for gestational age, Increased hepatic glycogen content |
ORPHA:293964 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Ciliary Dyskinesia, Primary, 1 |
|
Recurrent bronchitis, Bronchiectasis, Pneumonia, Atelectasis |
OMIM:244400 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Scoliosis, Hypercholesterolemia, Abnormal form of the vertebral bodies |
ORPHA:819 |
Lymphoid Interstitial Pneumonia |
|
Enlarged kidney, Hepatomegaly, Failure to thrive, Mediastinal lymphadenopathy, Weight loss |
ORPHA:79128 |
Erythrocytosis, Familial, 8 |
|
Increased hemoglobin, Increased hematocrit, Splenomegaly, Polycythemia |
OMIM:222800 |
Glycogen Storage Disease Ia |
|
Hepatocellular carcinoma, Proteinuria, Enlarged kidney, Decreased glomerular filtration rate, Pan... |
OMIM:232200 |
Cardiac-Urogenital Syndrome |
|
Dysplastic tricuspid valve, Mesocardia, Dextrocardia, Penoscrotal hypospadias, Micropenis, Enlarg... |
OMIM:618280 |
Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Obesity |
OMIM:600151 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Spherocytosis, Type 5 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... |
OMIM:612690 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Lumbar hyperlordosis, Elevated circulat... |
OMIM:615980 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Cholestasis, Hepatic fibrosis, Neph... |
OMIM:616629 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormality of the lymphatic system, Nephroblastoma, Enlarged kidney, Overgrowth |
ORPHA:276280 |
Familial Atrial Myxoma |
|
Jaundice, Bacterial endocarditis, Pulmonic valve myxoma, Cholestasis, Cardiac myxoma, Cardiomegal... |
ORPHA:615 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Heparan sulfate excretion in urine, Proteinuria, Leukopenia, Enlarged kidney,... |
ORPHA:505248 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... |
OMIM:618052 |
Bardet-Biedl Syndrome 21 |
|
Horseshoe kidney, Overweight, Obesity |
OMIM:617406 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Ground-glass opacification, Atelectasis, Recurrent lower respiratory tract infections, Bronchiect... |
OMIM:620233 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Igg4-Related Kidney Disease |
|
Enlarged kidney, Urethritis, Albuminuria, Abnormality of mesentery morphology, Sclerosing cholang... |
ORPHA:449395 |
Postaxial Acrofacial Dysostosis |
|
Supernumerary vertebrae |
OMIM:263750 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Large for gestational age, Bifid ureter, Enlarged kidney, Ventricular septal defect, Chronic neut... |
ORPHA:500095 |
Sickle Cell Disease |
|
Jaundice, Leukocytosis, Target cells, Hemolytic anemia, Splenic infarction, Renal insufficiency, ... |
OMIM:603903 |
Beckwith-Wiedemann Syndrome |
|
Polycythemia, Enlarged kidney, Multiple renal cysts, Hepatomegaly, Hypertrophic cardiomyopathy, N... |
ORPHA:116 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anisocytosis, Bite cells, Small for gestational age, Reticulocytosis, Hemolytic anemia, Hepatomeg... |
OMIM:224120 |
Waardenburg Syndrome, Type 1 |
|
Supernumerary vertebrae, Supernumerary ribs |
OMIM:193500 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal pulmonary valve morphology, Small for gestational age, Abnormal ventriculoarterial conne... |
ORPHA:860 |
Cholesteryl Ester Storage Disease |
|
Increased LDL cholesterol concentration, Steatorrhea, Hypertriglyceridemia, Decreased HDL cholest... |
OMIM:278000 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body weight, Increased body mass index, Anemia |
OMIM:614450 |
Macrocephaly/Autism Syndrome |
|
Penile freckling, Large for gestational age, Overgrowth, Hepatomegaly, Lymphopenia, Splenomegaly,... |
OMIM:605309 |
Denys-Drash Syndrome |
|
Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Enlarged kidney, Nephropathy, Nephro... |
OMIM:194080 |
Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
ORPHA:412 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Increased myocardial glycogen content, Cardiomyopathy, Biventricular hypertrophy... |
OMIM:261740 |
Alstrom Syndrome |
|
Scoliosis, Hyperuricemia, Kyphosis, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:203800 |
Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia |
OMIM:613027 |
3Q29 Microdeletion Syndrome |
|
Six lumbar vertebrae |
ORPHA:65286 |
Macrophage Activation Syndrome |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Elevated circulating C-reacti... |
ORPHA:158061 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in childhood, Atelectasis, Umbilical hernia, Pulmonary hypoplasia, Death in infancy, Periph... |
OMIM:613177 |
Farber Disease |
|
Nodular pattern on pulmonary HRCT, Diffuse reticular or finely nodular infiltrations, Atelectasis... |
ORPHA:333 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Cryohydrocytosis |
|
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia |
OMIM:185020 |
H Syndrome |
|
Hepatosplenomegaly, Abnormality of the kidney, Micropenis, Enlarged kidney, Histiocytosis, Microc... |
ORPHA:168569 |
Blue Diaper Syndrome |
|
Blue urine, Nephrocalcinosis, Increased body weight |
ORPHA:94086 |
Nephrotic Syndrome, Type 14 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
Werner Syndrome |
|
Elevated hemoglobin A1c, Hypertriglyceridemia, Low back pain |
OMIM:277700 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia |
OMIM:617441 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Scoliosis, Elevated circulating creatine kinase concentration, Spinal rigidity, Hypertriglyceride... |
OMIM:613327 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Jaundice, Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemo... |
OMIM:616689 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:619313 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Abnormal myeloid leukocyte morphology, Hepatocellular carcinoma, Proteinuria, Nephrocalcinosis, E... |
ORPHA:79259 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Nephropathy, Hypospadias, Nephroblastoma, Obesity |
OMIM:194072 |
Mucolipidosis Ii Alpha/Beta |
|
Mucopolysacchariduria, Enlarged kidney, Severe postnatal growth retardation, Hepatomegaly, Failur... |
OMIM:252500 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Atelectasis |
ORPHA:2314 |
Congenital Tricuspid Valve Dysplasia |
|
Small for gestational age, Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse,... |
ORPHA:555874 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Proteinuria, Nephrocalcinosis, Glycosuria, Hepatomegaly, Aminoaciduria, Hyperphosphaturia, Large ... |
OMIM:616026 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
Bardet-Biedl Syndrome 6 |
|
Obesity, Hypospadias, Renal cyst |
OMIM:605231 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hypoproteinemia, Increased total bilirubin, Hypertriglyceridemia, Increased circulating ferritin ... |
OMIM:603553 |
Short-Rib Thoracic Dysplasia 12 |
|
Atelectasis, Pulmonary hypoplasia, Intrauterine growth retardation, Anencephaly, Neonatal death |
OMIM:269860 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperuricemia |
ORPHA:79083 |
Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Vesicoureteral reflux, Renal agen... |
ORPHA:261222 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Jaundice, Reticulocytosis, Normocytic anemia, Cholecystitis, Normochromic anemia, Nonspherocytic ... |
OMIM:235700 |
Alg9-Cdg |
|
Hydronephrosis, Enlarged kidney, Hypoplasia of the bladder, Ventricular septal defect, Atrial sep... |
ORPHA:79328 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hypertriglyceridemia |
ORPHA:2348 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Increased body weight |
ORPHA:276608 |
Spherocytosis, Type 4 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly |
OMIM:612653 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia |
ORPHA:66628 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Proteinuria, Glycosuria, Renal Fanconi syndrome, Pancreatic islet-cell hyperplasia, Hepatomegaly,... |
ORPHA:263455 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Pulmonary lymphangiomyomatosis, Emphysema, Pneumot... |
ORPHA:538 |
Hyperparathyroidism, Transient Neonatal |
|
Unilateral renal agenesis, Splenic cyst, Enlarged kidney |
OMIM:618188 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
Spherocytosis, Type 1 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly |
OMIM:182900 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia, Scoliosis, Short neck |
ORPHA:289522 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatocellular carcinoma, Increased body weight, Hepatocellular adenoma, Anemia, Hepatic fibrosis... |
ORPHA:79240 |
Low Phospholipid-Associated Cholelithiasis |
|
Hepatocellular carcinoma, Cholangitis, Overweight, Liver abscess, Neoplasm of the liver, Intrahep... |
ORPHA:69663 |
Elliptocytosis 1 |
|
Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia |
OMIM:611804 |
Mody |
|
Pancreatic hypoplasia, Abnormality of the kidney, Overweight, Hepatocellular adenoma, Glycosuria,... |
ORPHA:552 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia |
ORPHA:540 |
Leprechaunism |
|
Nephrocalcinosis, Enlarged kidney, Hepatomegaly, Enlarged ovaries, Hypercalciuria, Failure to thr... |
ORPHA:508 |
Spherocytosis, Type 2 |
|
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly |
OMIM:616649 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Abnormal erythrocyte enzyme level, Hepatocellular adenoma, Increased body weight, Anemia, Cholest... |
ORPHA:264580 |
Bardet-Biedl Syndrome 17 |
|
Situs inversus totalis, Dextrocardia, Stage 5 chronic kidney disease, Micropenis, Renal cyst, Pol... |
OMIM:615994 |
Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:619802 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Renal dysplasia, Polycystic kidney dysplasia, Micropenis, Enlarged kidney |
OMIM:613091 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight |
ORPHA:589905 |
Whim Syndrome |
|
Atelectasis, Respiratory tract infection, Recurrent pneumonia, Bronchiectasis, Pneumonia, Recurre... |
ORPHA:51636 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased urinary cortisol level, Increased body weight |
OMIM:615954 |
Pseudohypoparathyroidism, Type Ib |
|
Low urinary cyclic AMP response to PTH administration, Obesity |
OMIM:603233 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Abdominal mass, Hydroureter, Cystic renal dysplasia, Obesity |
OMIM:615989 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Ogden Syndrome |
|
Global glomerulosclerosis, Polycystic kidney dysplasia, Secundum atrial septal defect, Jaundice, ... |
OMIM:300855 |
Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Hypophosphatemia |
ORPHA:2088 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Anemia, Bone marrow hypocellularity, Failure to thrive, Thrombocytopenia, Ketonuria, Aminoaciduri... |
OMIM:614520 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
ORPHA:370 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Microphallus, Enlarged kidney, Hypospadias |
OMIM:612651 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypertriglyceridemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypoalbuminemia |
OMIM:618183 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Atelectasis, Recurrent pneumonia, Bronchiectasis, Pulmonary art... |
OMIM:615067 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Splenomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Mitral stenos... |
OMIM:231005 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Death in childhood, Recurrent respiratory infections, Atelectasis, Pulmonary fibrosis |
OMIM:618278 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Enuresis nocturna, Enlarged kidney, Atrial septal defect, Tru... |
OMIM:615873 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Sacral dimple, Kyphosis, Hypertriglyceridemia, Thoracic scoliosis, Kyphoscoliosis |
ORPHA:536532 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Horseshoe kidney, Micropenis, Increased body weight |
OMIM:300860 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Zygomycosis |
|
Atelectasis, Air crescent sign, Pulmonary infiltrates, Pneumothorax, Acute infectious pneumonia, ... |
ORPHA:73263 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Repeated pneumothoraces, Pulmonary hypoplasia, Atelectasis |
ORPHA:536467 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Enlarged kidney, Duplication of renal pelvis, Ventricular septal defect, Atrial septal defect, Ca... |
OMIM:312870 |
Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Hyperlipidemia, Increased circulating chylomicron concentration |
ORPHA:444490 |
Granulomatous Disease, Chronic, X-Linked |
|
Pleural effusion, Recurrent pneumonia, Atelectasis, Air bronchogram |
OMIM:306400 |
Lysinuric Protein Intolerance |
|
Increased LDL cholesterol concentration, Hyperammonemia, Hyperglutaminemia, Steatorrhea, Hyperala... |
ORPHA:470 |
Lujo Hemorrhagic Fever |
|
Atelectasis |
ORPHA:319213 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Recurrent lower respiratory tract infections, Atelectasis |
ORPHA:258 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98907 |
Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Abnormal circulating lipid concentration |
ORPHA:79086 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Scoliosis, Hypercalcemia |
ORPHA:369837 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Small for gestational age, Increased body weight |
OMIM:274300 |
Joubert Syndrome 8 |
|
Hepatomegaly, Prolonged neonatal jaundice, Obesity |
OMIM:612291 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
ORPHA:280365 |
Joubert Syndrome 39 |
|
Polycystic kidney dysplasia, Overweight, Hypoplastic left heart |
OMIM:619562 |
Seckel Syndrome 10 |
|
Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:617253 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia |
OMIM:617591 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Sotos Syndrome |
|
Abnormality of the kidney, Atrial septal defect, Ventricular septal defect, Overgrowth, Prolonged... |
OMIM:117550 |
Gaisböck Syndrome |
|
Increased circulating renin level, Hyperuricemia, Hyperproteinemia, Hypertriglyceridemia, Hyperch... |
ORPHA:90041 |
22Q11.2 Deletion Syndrome |
|
Occipital myelomeningocele, Atelectasis, Spina bifida, Meningocele, Umbilical hernia, Intrauterin... |
ORPHA:567 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Hyponatremia, Hyperkalemia, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
ORPHA:275761 |
Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoproteinemia, Hypoalbuminemia |
OMIM:256300 |
Congenital Analbuminemia |
|
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Oculocerebrorenal Syndrome Of Lowe |
|
Umbilical hernia, Death in infancy, Atelectasis, Recurrent respiratory infections |
ORPHA:534 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration |
ORPHA:158048 |
Thauvin-Robinet-Faivre Syndrome |
|
Bifid ureter, Renal cyst, Ventricular septal defect, Overgrowth, Transient neutropenia, Renal dys... |
OMIM:617107 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Hyponatremia |
ORPHA:167 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Hyperlipidemia |
ORPHA:2089 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory tract infection, Atelectasis |
ORPHA:365 |
Alagille Syndrome 1 |
|
Hemivertebrae, Hypertriglyceridemia, Butterfly vertebral arch, Hypercholesterolemia |
OMIM:118450 |
Chand Syndrome |
|
Atelectasis |
ORPHA:1401 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Renal cell carcinoma, Nephrolithiasis, Hepatic steatosis, Increased urinary cortisol level, Incre... |
ORPHA:189427 |
Perlman Syndrome |
|
Renal hamartoma, Large for gestational age, Pancreatic islet-cell hyperplasia, Nephroblastomatosi... |
OMIM:267000 |
Obsolete: Primary Pigmented Nodular Adrenocortical Disease |
|
Nephrolithiasis, Hepatic steatosis, Increased urinary cortisol level, Increased body weight, Card... |
ORPHA:189439 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hemoglobin A1c, Hypertriglyceridemia, Supernumerary ribs |
OMIM:619127 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Increased body weight |
ORPHA:97279 |
Retinitis Pigmentosa 74 |
|
Abnormal renal morphology, Obesity |
OMIM:616562 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia |
OMIM:619418 |
Hellp Syndrome |
|
Proteinuria, Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic anemia, Decreased ... |
ORPHA:244242 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Hyperglycerolemia |
OMIM:307030 |
Insulin-Resistance Syndrome Type B |
|
Proteinuria, Increased body weight, Leukopenia, Glycosuria, Decreased body weight, Enlarged ovari... |
ORPHA:2298 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia |
ORPHA:79477 |
Immunodeficiency 87 And Autoimmunity |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Hypokalemia |
OMIM:619573 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Increased LDL cholesterol concentration, Abnormal circulating lipid concentration, Hypertriglycer... |
ORPHA:77293 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Relapsing Polychondritis |
|
Atelectasis |
ORPHA:728 |
Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
Adrenocortical Carcinoma |
|
Abnormality of urine homeostasis, Increased urinary cortisol level, Weight loss, Increased body w... |
ORPHA:1501 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Back pain |
ORPHA:439232 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased body weight |
OMIM:615830 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Micropenis, Atrial septal defect, Failure to thrive, Increased body weight, Abdominal obesity |
ORPHA:398069 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:269700 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating C-reactive pr... |
OMIM:256040 |
Wiedemann-Rautenstrauch Syndrome |
|
Cervical vertebral dysplasia, Hypoplastic vertebral bodies, Irregular sclerotic endplates, Hypert... |
ORPHA:3455 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia, Scoliosis, Short neck |
OMIM:264090 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Decreased plasma free carnitine, Elevated circulating acylcarnitine concentration, Elevated circu... |
ORPHA:157 |
Digeorge Syndrome |
|
Umbilical hernia, Recurrent pneumonia, Atelectasis, Recurrent sinusitis |
OMIM:188400 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia, Intervertebral disc degeneration |
ORPHA:79474 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hypertriglyceridemia |
OMIM:608594 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hyperammonemia, Decreased plasma free carnitine, Elevated circulating acylcarnitine concentration... |
ORPHA:228308 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:235400 |
X-Linked Lymphoproliferative Disease |
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Hypertriglyceridemia, Increased circulating ferritin concentration |
ORPHA:2442 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Parenteral Nutrition-Associated Cholestasis |
|
Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia |
ORPHA:567983 |
Cushing Disease |
|
Leukocytosis, Truncal obesity, Decreased eosinophil count, Lymphopenia, Increased urinary cortiso... |
ORPHA:96253 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Leukocytosis, Truncal obesity, Neoplasm of the thymus, Lymphopenia, Decreased eosinophil count, P... |
ORPHA:99889 |
Glycogen Storage Disease Ic |
|
Hyperlipidemia, Xanthelasma, Hyperuricemia |
OMIM:232240 |
Alström Syndrome |
|
Lumbar scoliosis, Kyphosis, Hypertriglyceridemia, Hyperlipidemia, Thoracic scoliosis |
ORPHA:64 |
Carney Complex |
|
Hepatocellular carcinoma, Neoplasm of the pancreas, Tall stature, Increased body weight, Cardiac ... |
ORPHA:1359 |
Weaver Syndrome |
|
Tall stature, Hypoplasia of penis |
ORPHA:3447 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:391665 |
Weaver Syndrome |
|
Overgrowth |
OMIM:277590 |