Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... |
OMIM:308990 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased proinsul... |
ORPHA:94086 |
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... |
ORPHA:69076 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Decreased serum insulin-like growth factor 1, Insulin resistance, Delayed puberty |
ORPHA:140941 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy |
OMIM:615092 |
Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Mody |
|
Abnormality of the kidney, Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin... |
ORPHA:552 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Asymptomatic hyperammonemia, Hypoglycemic seizures, Hy... |
OMIM:606762 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco... |
OMIM:618913 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... |
OMIM:615703 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... |
OMIM:614817 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Ketonuria, Glycosuria |
OMIM:618857 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... |
ORPHA:324575 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Insulin resistance, Hyperinsulinemia, Hypertension, Hepatic stea... |
ORPHA:79084 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Tachycardia, Proteinuria, Abnormal circulating fatty-acid concentration, Hyperinsul... |
ORPHA:263455 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Increased C-peptide level... |
ORPHA:276575 |
Cardiomyopathy, Dilated, 1Gg |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... |
OMIM:613642 |
Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia |
ORPHA:2089 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Excessive insulin response to glucagon test, Maternal diabetes, Increa... |
ORPHA:276580 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria |
OMIM:606528 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Cataract 47 |
|
Glycosuria |
OMIM:612018 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, Hypoglycemia, Hypouricemia, Hypo... |
OMIM:616026 |
Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance |
ORPHA:2398 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Decreased circulating parathyroid hormone... |
OMIM:618883 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re... |
OMIM:613388 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertension, Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Premature pubarche |
OMIM:614662 |
Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypo... |
OMIM:603233 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceride... |
ORPHA:2088 |
Pseudohypoparathyroidism, Type Ii |
|
Hypocalcemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hyperphos... |
OMIM:203330 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperp... |
ORPHA:276608 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Increased C-peptide level, Episodic hyperhidros... |
ORPHA:276556 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Hypote... |
ORPHA:369873 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia,... |
OMIM:145600 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Hypocalcemia, Autosomal Dominant 1 |
|
Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, Nephrocalcinosi... |
OMIM:601198 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenital... |
ORPHA:2239 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Calcinosis, Pseudohypoparathyroidism, Elevated circulating parathyroid hor... |
ORPHA:94090 |
Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia, Hyperlipidemia |
ORPHA:329249 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Insulin-resis... |
ORPHA:280356 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Hypoparathyroidism, Decreased circulating parathyroid hormone level, Nephrocalcinosis, Hyperphosp... |
OMIM:146200 |
Glucose/Galactose Malabsorption |
|
Abnormal oral glucose tolerance, Glycosuria |
OMIM:606824 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Intrahepatic cholestasis, ... |
OMIM:227810 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Abnormal response to glucagon stimu... |
ORPHA:79644 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hypertension, Hepa... |
OMIM:613877 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... |
OMIM:262400 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia, Hypergonadotropic hypogonadism, Male hypogonadism |
OMIM:307500 |
Essential Fructosuria |
|
Abnormal urine carbohydrate level, Hyperglycemia |
ORPHA:2056 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, Eleva... |
OMIM:617253 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Retinal detachment, Hypertriglyceridemia |
ORPHA:436182 |
Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, ... |
ORPHA:3337 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Proteinuria, Insulin resistance, Microscopic hematuria, Hepatic steatosis |
ORPHA:79087 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Glucose intolerance, Hypoalbuminemia, Fasting hypoglycemia, Hyperglycem... |
ORPHA:2298 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Post-Traumatic Pituitary Deficiency |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Hypogonadotropic hypogonadis... |
ORPHA:95619 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Chronic kidney disease, Hyperkalemia, Oliguria, Renal hypoplasia, Rena... |
ORPHA:97362 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... |
OMIM:601494 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314811 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resistance, Hepatosp... |
OMIM:612526 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Hypoglycemia, Cardiac arrest, Elevated circulating creatine ... |
OMIM:212138 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren... |
OMIM:262700 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Hepatomegaly, Proteinuria, Nephrogenic diabetes insipidus, Conjugated hyper... |
OMIM:613404 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... |
ORPHA:556037 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Long penis, Hyperinsulinem... |
OMIM:262190 |
Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
Juvenile Nephropathic Cystinosis |
|
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Hypoglycemia, Recurrent myoglobinuria, Cerebral hemorrhage, Increased ci... |
OMIM:620300 |
Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Cayler Cardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hypoglycemia, Hepatic steatosis, Renal steatosis |
OMIM:261650 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Hypoplastic left heart, Ao... |
OMIM:615779 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Elevated circulating creatine kinase concentration, Insulin resistance, Hyperl... |
OMIM:615980 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... |
OMIM:231680 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, E... |
ORPHA:556030 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Transient neonatal diabetes mellitus, Reduced C-pepti... |
OMIM:610582 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Elevate... |
OMIM:612462 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Calcium nephrolithiasis, Autoimmune hypoparathyroidism, Abnormal left vent... |
ORPHA:36913 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosis, Type I diabetes mellitus... |
OMIM:618858 |
Transient Neonatal Diabetes Mellitus |
|
Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoa... |
OMIM:264350 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia |
OMIM:620195 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Hyperammonemia, Cardiomyopathy, Organic aciduria, Arrhythmia |
ORPHA:35 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension, D... |
OMIM:203400 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:79085 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Hyponatremia, Recurrent urinary tract... |
ORPHA:361 |
Cranioacrofacial Syndrome |
|
Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Abnormal... |
ORPHA:446 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Cardiomyopathy, Atrial septal defect, Oligohydramnios |
ORPHA:1909 |
Corticosteroid-Binding Globulin Deficiency |
|
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... |
OMIM:611489 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... |
OMIM:617228 |
Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Hypoglycem... |
OMIM:229600 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, E... |
OMIM:137920 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Type I diabetes mellitus, Hy... |
OMIM:606176 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, 3-Methylglutaconic aciduria, Hypoglycemia |
ORPHA:67046 |
Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hype... |
OMIM:608600 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulatin... |
ORPHA:159 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... |
ORPHA:3282 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Hyperalaninemia, Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Penoscrotal hypospadias, Hypospadias, Renal s... |
ORPHA:90791 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Hypocalcemia, Elevated circulating parathyroid hormone level... |
ORPHA:79445 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Hypoglycemia, Decreased glomerular filtration rate |
OMIM:618182 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Ketotic hypoglycemia, Elevated circulating acylcarnitine concentration, Di... |
ORPHA:79159 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro... |
ORPHA:85445 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Exocrine pancreatic... |
OMIM:609812 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... |
ORPHA:411629 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypoglycemia, Hypergonadotropic hypogonadism, Hyperinsulinemia, Hepatosplenomegaly,... |
ORPHA:79237 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Alaninuria, Hepatomegaly, Hypoglycemia |
OMIM:615158 |
Pseudohypoparathyroidism, Type Ia |
|
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism, Hyperphos... |
OMIM:103580 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Delayed thelarche, Delayed puberty, Hyperinsulinemic hypoglycemia |
OMIM:616033 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ... |
ORPHA:99885 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated urinary dopamin... |
ORPHA:230 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... |
ORPHA:436271 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension |
OMIM:620125 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia |
OMIM:618856 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Insulin-resistant diabetes m... |
ORPHA:79086 |
Familial Hypoaldosteronism |
|
Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hypovolem... |
ORPHA:427 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Tachycardia, Proteinuria, Urinary incontinence, Elevated circulating creatine kinas... |
ORPHA:94093 |
Eng-Strom Syndrome |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1937 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Abnormal circulating insuli... |
ORPHA:293964 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Enlarged kidney, Elevated circulating gr... |
ORPHA:90301 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Insulin resistance, Hyperinsulinemia, Hypertension, Cirrhosis... |
ORPHA:363400 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... |
ORPHA:91354 |
Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
Nemaline Myopathy 9 |
|
Arthrogryposis multiplex congenita, Nemaline bodies, Ventricular septal defect, Polyhydramnios |
OMIM:615731 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Hypophosph... |
ORPHA:213 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Megabladder, Congenital |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... |
OMIM:618719 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:178370 |
Calciphylaxis |
|
Hyperphosphatemia, Stage 5 chronic kidney disease, Secondary hyperparathyroidism |
ORPHA:280062 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri... |
ORPHA:99879 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Spinal Muscular Atrophy, Type I |
|
Ventricular septal defect, Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness... |
OMIM:253300 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Decreased circulating cortisol level, Hypoglycemia, Orthostati... |
ORPHA:95409 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Pseudohypoaldosteronism, Hypera... |
OMIM:177735 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Hypertrophic cardiomyopa... |
OMIM:220110 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... |
OMIM:252011 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Abnormal circulating leucine concentration, Organic aciduria, Hypoglycemia, Hyperammonemia |
ORPHA:6 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome, Hyper... |
OMIM:201910 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... |
OMIM:616501 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Maternal diabetes, Splenomegaly, Insulin-r... |
ORPHA:79083 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Autosomal Dominant Hypocalcemia |
|
Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypo... |
ORPHA:428 |
Pseudohypoparathyroidism Type 1B |
|
Prolonged QT interval, Calcinosis, Decreased response to growth hormone stimulation test, Pseudoh... |
ORPHA:94089 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, I... |
ORPHA:71212 |
Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Mitral regurgitation, Pulmonic ste... |
OMIM:607941 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, ... |
ORPHA:199299 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Palpitations, Type II diabetes mellitu... |
OMIM:619290 |
Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Necrotizing Enterocolitis |
|
Shock, Hyponatremia, Peritonitis, Bradycardia, Hypotension, Abnormal glucose homeostasis, Hypergl... |
ORPHA:391673 |
Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Acute tubulointerstitial nephritis, Hyperhidrosis, Tubulointerstitial nephritis, Intracra... |
ORPHA:340 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Hypop... |
OMIM:300555 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... |
OMIM:241410 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
Scorpion Envenomation |
|
Bundle branch block, Increased circulating NT-proBNP concentration, Hyperhidrosis, Prominent U wa... |
ORPHA:466677 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Vasculitis, Diabetic ketoacidosis, Hypotension, Pancreatitis |
ORPHA:70578 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Elevated... |
ORPHA:435660 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious ... |
OMIM:614736 |
Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
Cholera |
|
Hyponatremia, Tachycardia, Abnormality of renal excretion, Hypoglycemia, Abnormal blood ion conce... |
ORPHA:173 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperamyla... |
OMIM:619386 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
Myasthenia Gravis |
|
Hyperthyroidism, Raynaud phenomenon, Primary adrenal insufficiency, Hepatitis, Abnormal thymus mo... |
ORPHA:589 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria |
OMIM:268315 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Congestive ... |
ORPHA:528 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Parathyroid hyperplasia, Elevated circulating parathyroid hormone level, Hypercalcemia, Hyperphos... |
OMIM:617994 |
Endocardial Fibroelastosis |
|
Hypoplasia of penis, Hypoglycemia, Congestive heart failure, Restrictive cardiomyopathy, Anterior... |
ORPHA:2022 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
Snakebite Envenomation |
|
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral is... |
ORPHA:449285 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Renal tubular dysfunction, Glucose intolerance, Cirrhosis, Glycosuria, H... |
OMIM:616539 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, High-output congestive heart failure, Ventricular tachyc... |
ORPHA:423 |
Retinitis Pigmentosa |
|
Hypogonadism, Hypoplasia of penis, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... |
OMIM:615954 |
Pituitary Apoplexy |
|
Hyponatremia, Hypoglycemia, Decreased response to growth hormone stimulation test, Reduced circul... |
ORPHA:95613 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbuminemia, Hepatic steato... |
OMIM:277900 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... |
OMIM:616000 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hypoglycemia, Hyperammonemia |
ORPHA:664 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Hypoalbuminemia... |
ORPHA:79319 |
Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
Addison Disease |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Decreased urinar... |
ORPHA:85138 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati... |
ORPHA:168558 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Myocardial infarction, Pulmonary embolism, Dec... |
ORPHA:447 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Hyperhidrosis, Glucose into... |
ORPHA:358 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Torticollis, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Abnormal pancreas morphology, Hyperinsulinemia, Nephroblastoma |
ORPHA:2849 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Hyperammonemia, Hypertension, Hyperuricemia, Hypotension, ... |
ORPHA:134 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... |
OMIM:262600 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Glomerulopathy, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Splenomegaly, Insulin resi... |
ORPHA:2348 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Alstrom Syndrome |
|
Hepatic steatosis, Renal insufficiency, Chronic active hepatitis, Hepatomegaly, Decreased respons... |
OMIM:203800 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hepatomegaly, Diabetes mellitus, Telangiectasia of the skin, Hypertriglyceridemia, Insulin resist... |
OMIM:615381 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Hyperphosphaturia, Decreased circulating parathyroid hor... |
ORPHA:157215 |
Vitamin D-Dependent Rickets, Type 3 |
|
Elevated circulating parathyroid hormone level, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Oliguria, ... |
ORPHA:31824 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... |
OMIM:615812 |
Pseudohypoparathyroidism Type 1C |
|
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79444 |
Hjv Or Hamp-Related Hemochromatosis |
|
Diabetes mellitus, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Dil... |
ORPHA:79230 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis,... |
OMIM:231100 |
Diarrhea 13 |
|
Recurrent hypoglycemia, Hepatic steatosis, Hypoalbuminemia |
OMIM:620357 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal tricu... |
ORPHA:1354 |
Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Transposition of the great arteries, At... |
ORPHA:1209 |
Donohue Syndrome |
|
Precocious puberty, Long penis, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pancreatic islet... |
OMIM:246200 |
Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Hepatomegaly, Increased urine succinate level, Hypoglycemia, Congestive heart fa... |
OMIM:619048 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopathy, Mitral re... |
OMIM:619167 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:3085 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Nephrolithiasis, Cystinuria, Hypogonadism, Hypocalcemia |
ORPHA:163693 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria, Ketotic hypoglycemia |
OMIM:616095 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Hyponatremia, Myocardial infarction, Spl... |
ORPHA:3452 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Ventricular septal defect, Edema, Polyhydramnios, Dilated cardiomyopathy... |
OMIM:607598 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Congestive heart f... |
OMIM:613313 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Hypertension, Increased circulating cortisol leve... |
OMIM:615962 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Hyperphosphatemia, Hy... |
OMIM:239000 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Abnormality of the kidney, Proteinuria, Hepatocellular carcinoma, Hyp... |
ORPHA:369 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h... |
ORPHA:79443 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Hyp... |
ORPHA:90794 |
Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Vasculitis |
OMIM:601979 |
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
Glucocorticoid Deficiency 2 |
|
Recurrent hypoglycemia, Decreased circulating cortisol level, Increased circulating ACTH level |
OMIM:607398 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Dicarboxylic aciduria, Hypoglycemia |
OMIM:615026 |
Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulating thyroid-stimulat... |
OMIM:617872 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Staphylococcal Necrotizing Pneumonia |
|
Shock, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Hypotension, Inc... |
ORPHA:36238 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... |
OMIM:151660 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Hypoplasia of penis, Hyperphosphatemia, Hypocalcemia, Congenital hypoparathyr... |
ORPHA:2323 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Impaired myocardial contractility, Adrenocortical adenoma, Postprandial hyp... |
ORPHA:681 |
Fetal Minoxidil Syndrome |
|
Ventricular septal defect |
ORPHA:1918 |
Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
Legionnaires Disease |
|
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Jaundice, Myocarditis... |
ORPHA:549 |
Placental Insufficiency |
|
Insulin resistance |
ORPHA:439167 |
Relapsing Fever |
|
Tachycardia, Epistaxis, Elevated circulating C-reactive protein concentration, Jaundice, Elevated... |
ORPHA:91547 |
Hypoadrenocorticism, Familial |
|
Hyponatremia, Hypoglycemia, Adrenal hypoplasia, Hyperkalemia, Adrenal insufficiency |
OMIM:240200 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... |
ORPHA:293978 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Decreased serum iron, Dilated cardiomyopathy, Flexion contracture, Decre... |
ORPHA:89842 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Hypercalcemia, Renal phosphate wasting, Hypophosphatemic rickets, Elevated c... |
OMIM:612089 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... |
ORPHA:769 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Organic aciduria, Hypoglycemia |
OMIM:614741 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Nonketotic hypoglycemia, Hepatomegaly, Acute pancreatitis, Ketonuria, Cardiac arrest, Jaundice, D... |
ORPHA:20 |
Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Unilateral renal agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congen... |
OMIM:101800 |
Feingold Syndrome Type 2 |
|
Ventricular septal defect |
ORPHA:391646 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Congestive heart failure, Dilated cardiomyopathy, C... |
OMIM:602390 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia |
OMIM:616276 |
Lymphatic Malformation 8 |
|
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge... |
OMIM:618773 |
Gitelman Syndrome |
|
Prolonged QT interval, Polyuria, Renal magnesium wasting, Hypomagnesemia, Ventricular tachycardia... |
OMIM:263800 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Hyperuricemia, Increased hepatic glycogen content |
OMIM:261750 |
3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Hypoglycemia |
ORPHA:67048 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Abnormal circulating creatine k... |
ORPHA:521411 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was... |
OMIM:610600 |
Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Anhidrosis, Sinus tachycardia, Elevated circulating creatine kinase concen... |
ORPHA:466650 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Elevated circulating growth hormone concentration, Right v... |
ORPHA:97287 |
Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyroto... |
ORPHA:79102 |
Mandibuloacral Dysplasia |
|
Hypertriglyceridemia, Increased circulating free fatty acid level, Insulin resistance, Insulin-re... |
ORPHA:2457 |
Fixed Subaortic Stenosis |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyper... |
OMIM:239200 |
Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios |
ORPHA:3469 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Increased... |
ORPHA:100080 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Transaldolase Deficiency |
|
Edema, Hydrops fetalis, Telangiectasia, Biventricular hypertrophy, Abnormal circulating glutamine... |
ORPHA:101028 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Feingold Syndrome 2 |
|
Ventricular septal defect |
OMIM:614326 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Hypoglycemia, Hyperammonemia, Elevated circulating suberic acid concent... |
OMIM:615160 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Hypotension, Arrhythmia, Pancreatitis, ... |
ORPHA:188 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Hyperam... |
OMIM:618120 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Glycogen Storage Disease Iii |
|
Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concentration, Hyperlipidemia, C... |
OMIM:232400 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Insulin resistance, Hypoglycemia, Neonatal hyperbilirubinemia |
ORPHA:73272 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Hydrops fetalis, Ventricular septal defect, Abnormal tricuspid valve morphology, Polyhydramnios |
ORPHA:3405 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... |
ORPHA:542323 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... |
OMIM:261740 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Ventricular septal defect |
OMIM:614876 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Pulmonic stenosis, Camptodactyly, Atrial septal defect, Arthrogryposis... |
OMIM:614262 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypoplasia, Decreased circulating... |
ORPHA:453533 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Abnormal cardiac ventricular fun... |
ORPHA:2394 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Prolonged QTc interval, Hyp... |
ORPHA:90065 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:615297 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis, Hyperalani... |
OMIM:266150 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:617992 |
Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
Microphthalmia, Syndromic 12 |
|
Neonatal death, Hypoplastic left atrium, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:615524 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Reactive hypoglycemia, Episodic hyperhidrosis, Jaundice, Chron... |
ORPHA:469 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Hypoargininemia, Jaundice, Low p... |
OMIM:615751 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitati... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitati... |
ORPHA:100082 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Polyuria, Hypercalcemia,... |
OMIM:601678 |
Atypical Werner Syndrome |
|
Renal neoplasm, Diabetes mellitus, Telangiectasia of the skin, Hypertriglyceridemia, Abnormal cir... |
ORPHA:79474 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614432 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concentration, Hypercholester... |
OMIM:238600 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, D... |
ORPHA:280365 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Hypertriglyceridemia, Elev... |
OMIM:613327 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia, Stage 5 chronic kidney dis... |
OMIM:608612 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Hyp... |
OMIM:602579 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis, Hyperammonemia |
OMIM:620137 |
Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... |
ORPHA:66529 |
Combined Malonic And Methylmalonic Acidemia |
|
Dicarboxylic acidemia, Methylmalonic acidemia, Dicarboxylic aciduria, Hypoglycemia, Methylmalonic... |
ORPHA:289504 |
Mmep Syndrome |
|
Ventricular septal defect |
ORPHA:3434 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Low plasma citrulline, Renal steatosis, Increased hepatic ... |
OMIM:261680 |
Hydroxykynureninuria |
|
Renal tubular acidosis, Tachycardia, Abnormal circulating tryptophan concentration, Hypotension |
ORPHA:79155 |
Monosomy 13Q34 |
|
Epistaxis, Hypercalcemia, Insulin resistance, Fetal pyelectasis, Hematochezia, Pulmonic stenosis,... |
ORPHA:96168 |
Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:1388 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Diabetes mellitus, Hypogonadotropic hypogonadism, Decreased ser... |
ORPHA:465508 |
Mercury Poisoning |
|
Tachycardia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury |
ORPHA:330021 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Dicarboxylic aciduria, Dilated cardiomyopathy, Hepatic necrosis, Hypoglycemic seizures, Hypertrop... |
OMIM:231530 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, Hypoalbuminemia, Oligohydram... |
OMIM:617093 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... |
OMIM:201400 |
Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage, Elevated circulating erythropo... |
OMIM:263400 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemic rickets, Hypophosphatemia |
OMIM:193100 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect |
OMIM:608227 |
46,Xx Sex Reversal 5 |
|
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect, Aplasia of the ... |
OMIM:618901 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... |
ORPHA:95459 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hyperalaninemia, Hypoglycemia, Aciduria |
OMIM:617950 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Hypoglycemia, Sudden cardiac death, Renal tubular acidosis, Arrhythmia, Transient h... |
ORPHA:156 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Decreased circulating parathyroid hormone level, Abnormal circulating ca... |
OMIM:241530 |
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect |
OMIM:209770 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Glycogen Storage Disease Ixd |
|
Hypoglycemia, Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria |
OMIM:300559 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated circu... |
OMIM:619355 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Ventricular septal defect, Increased variability in muscle fiber diameter |
OMIM:616816 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, 2-ethylhydracylic aciduria |
OMIM:610006 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect |
OMIM:235750 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia |
OMIM:127000 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Pedal edema, Sinus bradycardia |
OMIM:126320 |
Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... |
ORPHA:90695 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Tricuspid regurgitation, Right ventricular failure, Hematemesis, Cardiogenic shock,... |
ORPHA:100075 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Dilated cardiomyopathy, Ventric... |
OMIM:600649 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Hypoglycemia, Proteinuria, Mesangial hypercell... |
OMIM:617575 |
Infant Botulism |
|
Hyponatremia, Cardiac arrest, Xerostomia, Hypertension, Hypotension |
ORPHA:178478 |
Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Ventricular septal defect |
OMIM:613759 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Congestive h... |
ORPHA:31826 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Long Qt Syndrome 16 |
|
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... |
OMIM:618782 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N... |
OMIM:300554 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Insulin resistance |
OMIM:214150 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Ventricular septal defect |
ORPHA:79094 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, Hyperam... |
OMIM:246450 |
Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... |
ORPHA:91347 |
Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoprote... |
ORPHA:99828 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Tachycardia, Ventricular septal defect, Abnormal pulmona... |
ORPHA:860 |
Fadd-Related Immunodeficiency |
|
Ventricular septal defect |
ORPHA:306550 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bile duct proliferation, Fasting ... |
OMIM:613027 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Arrhythmia, Cardio... |
OMIM:606069 |
Polysyndactyly With Cardiac Malformation |
|
Atrial septal defect, Stillbirth, Ventricular septal defect, Polyhydramnios |
OMIM:263630 |
Leprechaunism |
|
Hepatomegaly, Insulin resistance, Long penis, Hyperinsulinemia, Hypercalciuria, Central hypothyro... |
ORPHA:508 |
Noonan Syndrome 12 |
|
Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios, Supravalvular aortic stenosis |
OMIM:618624 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Absent gallbladder, Diabetes mellitus, Biliary atresia, Pulmonic stenosis, ... |
OMIM:600001 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Atrial flutter, Overriding aorta, Ventricular septal defect, Lymphedema, Hydrops fetalis, Atrial ... |
OMIM:601927 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia, Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Methylmaloni... |
OMIM:248360 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Hypophosphatemia |
OMIM:241520 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy, Jaundice, Hypoglycemia, Hyperammonemia |
OMIM:616483 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Edema, Portal hypertension, Polyhydramnios, Hydrops fetalis, Cardiomyopa... |
OMIM:232500 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia |
ORPHA:2158 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Hyperphosphatemia, Hypocalcemic tetany, Congenital hypoparathyroidism, Abnormal circulating folli... |
ORPHA:93325 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Perry Syndrome |
|
Hypotension |
ORPHA:178509 |
Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Ventricular septal defect |
OMIM:619717 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension |
OMIM:267430 |
Hemochromatosis, Type 1 |
|
Cardiomegaly, Increased circulating ferritin concentration, Congestive heart failure, Telangiecta... |
OMIM:235200 |
Scrub Typhus |
|
Renal insufficiency, Myocarditis, Splenomegaly, Hyperhidrosis, Hypotension |
ORPHA:83317 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Retinopathy, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Elevated circulating branched chain amino acid concent... |
OMIM:248600 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Secundum atrial septal defect, Complete atrioventricular canal defect,... |
OMIM:613854 |
Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Abnormal circulating calcium concentration, Renal phosphate wasting, Renal tubular dysfunction, E... |
OMIM:307800 |
Cocaine Intoxication |
|
Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Prolonged QRS complex, Myoca... |
ORPHA:90068 |
Nipah Virus Disease |
|
Hypotension |
ORPHA:99825 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:261243 |
Slc39A8-Cdg |
|
Elbow flexion contracture, Hypomanganesemia, Abnormal blood zinc concentration, Knee flexion cont... |
ORPHA:468699 |
Short Syndrome |
|
Insulin resistance, Glucose intolerance, Hyperglycemia, Insulin-resistant diabetes mellitus |
OMIM:269880 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Neonatal hypoglycemia, Reduced circulating prolacti... |
OMIM:223360 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Decreased serum zinc, Oligohydramnios |
ORPHA:541423 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Polyhydramnios, Pleural effusion, Mitral regurgitation, Pulmonic steno... |
OMIM:615355 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Reduced C-peptide level, Neoplasm of the liver, Rec... |
ORPHA:2126 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Hyperlipidemia |
ORPHA:199276 |
Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Hematuria, Intracranial hemorrhage,... |
ORPHA:99147 |
Meningococcal Meningitis |
|
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypotension |
ORPHA:33475 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methyl... |
OMIM:210200 |
Bacterial Toxic-Shock Syndrome |
|
Shock, Renal insufficiency, Recurrent urinary tract infections, Tachycardia, Glomerulonephritis, ... |
ORPHA:36234 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Insulin resistance, Dilated cardiom... |
OMIM:616541 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Werner Syndrome |
|
Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Insu... |
ORPHA:902 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Stage 5 chronic kidney... |
OMIM:251000 |
Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Bradycardia, Cardiac arrest, Hypotension |
ORPHA:70587 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Shortened QT inte... |
ORPHA:99880 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:357225 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Adrenal calcification, Renal salt wasti... |
ORPHA:275761 |
Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia, Retinopathy |
ORPHA:79476 |
Mccune-Albright Syndrome |
|
Hyperphosphaturia, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocious... |
ORPHA:562 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Ventricular tachycardia, Atrioven... |
OMIM:601005 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Silver-Russell Syndrome |
|
Hypospadias, Precocious puberty, Insulin resistance, Hyperhidrosis, Recurrent hypoglycemia, Abnor... |
ORPHA:813 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Ketonuria, Hypoglycemia, Hyperammonemia |
OMIM:615453 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Annular pancreas, Biliary atresia, Cholestasis, Acholic st... |
OMIM:615710 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Impaired glucose tolerance, Insulin-resistant diabetes mellitus, Hyperl... |
OMIM:248370 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Insulin-... |
ORPHA:435651 |
Parathyroid Carcinoma |
|
Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Shortened QT inte... |
ORPHA:143 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hypoglycemia, Hepatocellular carcinoma, Hyperlipidemia, Nephrolithiasi... |
OMIM:232200 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Elevated hemoglobin A... |
OMIM:616113 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina... |
OMIM:241200 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Extrahepatic cholestasis, Smal... |
ORPHA:100078 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Transposition of the great arteries |
OMIM:231060 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Hypertriglyceridemia, Decreased serum leptin... |
OMIM:608594 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Hypocalcemia, Secondar... |
OMIM:264700 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Tachycardia, Hypergonadotropic hypogonadism |
OMIM:619737 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Hypokalemia, Second degree at... |
OMIM:615474 |
Marbach-Rustad Progeroid Syndrome |
|
Right bundle branch block, Insulin resistance, Pulmonary insufficiency |
OMIM:619322 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Pde4D Haploinsufficiency Syndrome |
|
Elevated circulating parathyroid hormone level, Hypospadias, Hypotension |
ORPHA:439822 |
Woodhouse-Sakati Syndrome |
|
Decreased serum testosterone concentration, Streak ovary, Decreased response to growth hormone st... |
ORPHA:3464 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarboxylic aciduria, Hepatic steatosis |
OMIM:201450 |
Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:616898 |
Congenital Enterovirus Infection |
|
Myocarditis, Hepatitis, Cholestasis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia, Hypotension |
ORPHA:292 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia |
OMIM:249270 |
Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ... |
OMIM:212093 |
Marburg Hemorrhagic Fever |
|
Shock, Renal insufficiency, Tachycardia, Hypoglycemia, Pericarditis, Elevated circulating creatin... |
ORPHA:99826 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Insulin resistance, Hyperlipidemia, Delayed puberty |
ORPHA:90154 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Cardiofaciocutaneous Syndrome 3 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Bardet-Biedl Syndrome 19 |
|
Atrial septal defect, Ventricular septal defect, Hypoplastic left heart, Partial atrioventricular... |
OMIM:615996 |
14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:261120 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
Alexander Disease |
|
Diabetes mellitus, Sudden cardiac death, Precocious puberty, Hyperhidrosis, Hypertension, Hypoten... |
ORPHA:58 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypophosphate... |
OMIM:619743 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Elevated hemoglobin A1c, Decreased serum ... |
OMIM:269700 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Overriding aorta, Ventricular septal defect, Nonimmune hydrops fetalis, Hypertension, Second degr... |
OMIM:617021 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Elevated circulating creatine kinase concentration, Hyperhidrosis, Abnormal ... |
ORPHA:99827 |
Pancreatic Agenesis 1 |
|
Neonatal insulin-dependent diabetes mellitus, Reduced C-peptide level, Exocrine pancreatic insuff... |
OMIM:260370 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Ventricular septal defect |
OMIM:620393 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, H... |
ORPHA:79456 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased serum zinc |
OMIM:201100 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hypoparathyroidism, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophosp... |
OMIM:156400 |
Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter |
OMIM:210740 |
Serkal Syndrome |
|
Congenital diaphragmatic hernia, Ventricular septal defect, Pulmonic stenosis, Oligohydramnios |
ORPHA:139466 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, E... |
ORPHA:26793 |
Short Syndrome |
|
Insulin resistance, Diabetes mellitus |
ORPHA:3163 |
Serotonin Syndrome |
|
Tachycardia, Hyperhidrosis, Hypertension, Hypotension, Acute kidney injury |
ORPHA:43116 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:2476 |
Lujo Hemorrhagic Fever |
|
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Myocarditis, F... |
ORPHA:319213 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect, Hypomagnesemia |
OMIM:619908 |
Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Ectopic posterior pituitary, Hypoglycemia, Adrenal hypoplasia, Hypothyroidis... |
ORPHA:95496 |
Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Elevated circulating C-reactive protein concentration, Splenomegaly, J... |
ORPHA:90051 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Complete... |
OMIM:208530 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Neonatal death, Ventricular septal defect |
OMIM:613730 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Hypersplenism, Hepatosplenomegaly, Hypotension |
ORPHA:98850 |
Linear Verrucous Nevus Syndrome |
|
Abnormality of the kidney, Hypophosphatemia |
ORPHA:2611 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Abnormal heart morphology |
ORPHA:254534 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect |
OMIM:617044 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Increased urinary glycerol, Hypoglycemia |
OMIM:229700 |
Hadziselimovic Syndrome |
|
Atrial septal defect, Ventricular hypertrophy, Tetralogy of Fallot, Ventricular septal defect |
OMIM:612946 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... |
ORPHA:1686 |
Beta-Thalassemia |
|
Hypertrophic cardiomyopathy, Abnormality of iron homeostasis |
ORPHA:848 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, H... |
OMIM:131100 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Hyperglycemia |
OMIM:615986 |
Li-Campeau Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:619189 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract... |
OMIM:613870 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steatosis, Congestive heart failure, ... |
OMIM:611126 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... |
OMIM:618652 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypoglycemia, Decreased response t... |
ORPHA:95494 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618330 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Hypoglycemia, Proteinuria, Spider hemangioma, Chronic pancreat... |
OMIM:232240 |
Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
Acute Liver Failure |
|
Gastrointestinal hemorrhage, Shock, Hypoglycemia, Jaundice, Hepatitis, Hepatic necrosis, Hepatoce... |
ORPHA:90062 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Hypoglycemia, Proteinuria, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomeg... |
OMIM:232220 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine... |
OMIM:618839 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Generalized aminoaciduria, Elevated circulating parathyroid hormone level, Hypocalcemia, Secondar... |
ORPHA:289157 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:228399 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect |
ORPHA:94066 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Hypoglycemia, Elevated circula... |
OMIM:618835 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect |
OMIM:212090 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect |
ORPHA:1455 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, ... |
OMIM:612561 |
Greig Cephalopolysyndactyly Syndrome |
|
Hyperglycemia, Hypospadias |
OMIM:175700 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:601355 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Ventricular septal defect |
OMIM:618506 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes insipidus, Insulin resistance,... |
OMIM:209900 |
Lambert Syndrome |
|
Ventricular septal defect |
ORPHA:1296 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Insulin r... |
ORPHA:96182 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Retinal degeneration |
OMIM:277700 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Nephrolithiasis, Hypocalcemia, Hypophosphatemia |
ORPHA:93160 |
Smith-Magenis Syndrome |
|
Retinal detachment, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Hypertyrosinemia, Hypoglycemia, E... |
OMIM:276700 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Hypertension, Pollakisuria, Hypotension, Urinary bladder sphincter dysfunction, Hypothyroidism |
ORPHA:93256 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Diabetes mellitus, Precocious puberty in females, Elevated circulating growth ho... |
ORPHA:249 |
Refractory Celiac Disease |
|
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia, Abnormal spleen... |
ORPHA:398063 |
Aromatase Deficiency |
|
Hypergonadotropic hypogonadism, Insulin resistance, Hyperlipidemia, Type II diabetes mellitus, He... |
ORPHA:91 |
Hellp Syndrome |
|
Proteinuria, Cerebral hemorrhage, Hemoglobinuria, Hypotension, Acute kidney injury, Internal hemo... |
ORPHA:244242 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypoketotic h... |
ORPHA:5 |
Aica-Ribosuria Due To Atic Deficiency |
|
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Hyponatremia, Hypoglycemia |
OMIM:608688 |
Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenos... |
OMIM:220210 |
Delpire-Mcneill Syndrome |
|
Ventricular septal defect |
OMIM:619083 |
King-Denborough Syndrome |
|
Ventricular septal defect, Elevated circulating creatine kinase concentration, Centrally nucleate... |
OMIM:619542 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Abnormal heart morphology |
ORPHA:401935 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:617049 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Tricuspid stenosis, Heart murmur, Adrenocorticotropic hormone excess, Palpitations,... |
ORPHA:100079 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia |
ORPHA:90153 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k... |
ORPHA:94059 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension |
ORPHA:247257 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con... |
OMIM:618775 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Hypoglycemia, Cardiac arrest, Premature thelarche, Elevated circulating creatine kinas... |
OMIM:616878 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:1166 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Increased urinary glycerol, Hypoglycemia, Hyperuricemia, Fasting hypog... |
ORPHA:348 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Hypoplast... |
OMIM:617205 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Hypoglycemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, Mi... |
OMIM:617156 |
Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Joint contracture of the hand, Pulmonic stenosis, Camptodactyly, Atria... |
OMIM:179613 |
Vitamin D-Dependent Rickets, Type 2A |
|
Hypocalcemic seizures, Elevated circulating parathyroid hormone level, Secondary hyperparathyroid... |
OMIM:277440 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia |
OMIM:616730 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:618974 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Ventricular septal defect, Hypoplastic left heart |
ORPHA:2772 |
Adams-Oliver Syndrome 6 |
|
Truncus arteriosus, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension |
OMIM:616589 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Reduce... |
ORPHA:91355 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia, Dilated cardiomyopathy, Ventricular septal defect, Edema |
OMIM:618348 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial anomalous pulmonary venous return, Elevated circulating creati... |
OMIM:617478 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Ventricular septal defect, Polyhydramnios |
ORPHA:2256 |
Tyshchenko Syndrome |
|
Atrial septal defect, Polyhydramnios, Ventricular septal defect, Pulmonic stenosis |
OMIM:615102 |
Trigonocephaly With Short Stature And Developmental Delay |
|
Ventricular septal defect |
OMIM:314320 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Supravalvar pul... |
OMIM:620185 |
Hypophosphatemic Bone Disease |
|
Hypophosphatemia |
OMIM:146350 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Hypoplastic ... |
ORPHA:3426 |
Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Flexion contracture, Hydrops fetalis, Pl... |
OMIM:616897 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Foot joint contracture, Dilated cardiomyopathy, Flexion contracture, Decreased plasma total carni... |
ORPHA:79408 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Acute hyperammonemia, Ketonuria, Hypoglycemia, Hyperglycinuria, Hyperammonemia, Organic aciduria,... |
OMIM:210210 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Ventricular septal defect |
ORPHA:3369 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphol... |
ORPHA:284169 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Conjugated hyperbilirubinemia, Oligohydramnios, Dehydration, Atrial se... |
OMIM:208085 |
Craniofaciofrontodigital Syndrome |
|
Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic valve, Ventricular sep... |
ORPHA:363705 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
Lipodystrophy, Familial Partial, Type 7 |
|
Orthostatic hypotension, Hypertriglyceridemia, Impaired glucose tolerance, Polyuria, Hypercholest... |
OMIM:606721 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, A... |
ORPHA:392 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Hydrops fetalis, I... |
ORPHA:766 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Hypoglycemia, Portal hypertension, Elevated circulating alpha-fetoprotein concentra... |
OMIM:251880 |
Pure Autonomic Failure |
|
Anhidrosis, Orthostatic hypotension, Dysuria, Urinary incontinence, Abnormality of circulating ca... |
ORPHA:441 |
Scimitar Syndrome |
|
Left-to-right shunt, Ventricular septal defect, Dextrocardia, Mitral atresia, Abnormal hemidiaphr... |
ORPHA:185 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect |
OMIM:214300 |
Tenorio Syndrome |
|
Hypoglycemia, Raynaud phenomenon, Enuresis, Syncope, Hypoinsulinemia |
OMIM:616260 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... |
ORPHA:369929 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Isolated Sedoheptulokinase Deficiency |
|
Renal insufficiency, Portal hypertension, Hepatitis, Cholestasis, Cholestatic liver disease, Post... |
ORPHA:440713 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, ... |
ORPHA:90790 |
Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
Woods Syndrome |
|
Ventricular septal defect |
OMIM:615236 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Increased nuchal translucency, Ventricular septal defect |
OMIM:617635 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Total anomalous pulmonary venous return, At... |
ORPHA:261183 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Polyhydramnios |
ORPHA:1923 |
Lymphatic Malformation 6 |
|
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Lymphedema, Perior... |
OMIM:616843 |
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 |
Familial Chylomicronemia Syndrome |
|
Hyperlipidemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Lipemia re... |
ORPHA:444490 |
Diamond-Blackfan Anemia 12 |
|
Ventricular septal defect |
OMIM:615550 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat... |
ORPHA:264580 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Increased nuchal translucency, Abnormal heart morphology, Atrial septa... |
OMIM:618494 |
Desbuquois Syndrome |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of... |
ORPHA:1425 |
Glutaric Acidemia I |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Elevated circulating glutaric acid conc... |
OMIM:231670 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag... |
OMIM:608978 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect |
OMIM:602501 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Hypoglycemia, Lactic... |
ORPHA:3008 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis |
ORPHA:75563 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Hypocalcemia, Hypophosphatemia |
OMIM:600081 |
Jansen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic hernia |
OMIM:617450 |
Acute Radiation Syndrome |
|
Hypotension, Telangiectasia |
ORPHA:454831 |
Coffin-Siris Syndrome 7 |
|
Ventricular septal defect, Bicuspid aortic valve, Polyhydramnios, Patent foramen ovale, Oligohydr... |
OMIM:618027 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Ventricular tachycardia, Pedal edema, Aort... |
ORPHA:97214 |
Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia |
OMIM:618067 |
Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Ventricular septal defect |
OMIM:616651 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Hyperhidrosis |
OMIM:608643 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, Aortic valve stenosis,... |
ORPHA:210122 |
Ciliary Dyskinesia, Primary, 30 |
|
Situs inversus totalis, Ventricular septal defect, Dextrocardia |
OMIM:616037 |
Hennekam-Beemer Syndrome |
|
Arrhythmia, Telangiectasia of the skin, Hypotension |
ORPHA:2135 |
Atelis Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:620184 |
Poliomyelitis |
|
Hypertension, Hypovolemic shock, Hypotension |
ORPHA:2912 |
Filippi Syndrome |
|
Ventricular septal defect |
OMIM:272440 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, First degree atrioventricular block, Cellular urinary casts, Jaundice... |
ORPHA:509 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Hepatomegaly, Tachycardia, Splenomegaly, Syncope, Hypotension |
ORPHA:98849 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Ventricular septal defect |
OMIM:620210 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Tricuspid regurgitation, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal... |
OMIM:620306 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypoplastic right heart |
OMIM:618142 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:93267 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
ORPHA:2516 |
Prune Belly Syndrome |
|
Ventricular septal defect, Aplasia of the abdominal wall musculature, Atrial septal defect, Tetra... |
ORPHA:2970 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology |
ORPHA:500159 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Periventricular Nodular Heterotopia 7 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricular septal defect, E... |
OMIM:617201 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Hyponatr... |
ORPHA:534 |
Dietary Iron Overload Disease |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Congestive heart f... |
ORPHA:139507 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Increased nuchal translucency, Mitral valve prolapse,... |
OMIM:616564 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Abnormal left ventricular function, Aminoaciduria, Hypocalcemia, Elevated he... |
OMIM:619991 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Di... |
ORPHA:477817 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Camptodactyly |
OMIM:614815 |
Lambotte Syndrome |
|
Ventricular septal defect |
OMIM:245552 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Mitral regurgitatio... |
OMIM:603387 |
Aase-Smith Syndrome I |
|
Flexion contracture, Ventricular septal defect |
OMIM:147800 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect |
ORPHA:2345 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Increased nuchal translucen... |
OMIM:618870 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:616559 |
Pancreatic And Cerebellar Agenesis |
|
Diabetes mellitus, Hypoglycemia, Hyperglycemia, Pancreatic hypoplasia, Pancreatic aplasia |
OMIM:609069 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphe... |
OMIM:153400 |
Oculoauriculofrontonasal Syndrome |
|
Ventricular septal defect |
ORPHA:398156 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:614261 |
Costello Syndrome |
|
Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Macroglossia, Pulmonic stenosis... |
ORPHA:3071 |
Lethal Congenital Contracture Syndrome 10 |
|
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Macroglo... |
OMIM:617022 |
Bloom Syndrome |
|
Recurrent urinary tract infections, Diabetes mellitus, Insulin resistance, Telangiectasia, Nephro... |
ORPHA:125 |
Transketolase Deficiency |
|
Ventricular septal defect, Abnormal heart morphology, Atrial septal defect, Patent foramen ovale,... |
ORPHA:488618 |
Kagami-Ogata Syndrome |
|
Ventricular septal defect, Diastasis recti, Polyhydramnios, Flexion contracture, Pulmonic stenosi... |
OMIM:608149 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Elbow flexion contracture, Mit... |
OMIM:121050 |
Brachydactyly, Type B1 |
|
Joint contracture of the hand, Ventricular septal defect, Camptodactyly |
OMIM:113000 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
Transaldolase Deficiency |
|
Ventricular septal defect, Telangiectasia, Atrial septal defect, Patent foramen ovale, Oligohydra... |
OMIM:606003 |
Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect |
OMIM:609654 |
Myopathy With Extrapyramidal Signs |
|
Extremely elevated creatine kinase, Ventricular septal defect, Elevated circulating creatine kina... |
OMIM:615673 |
Noonan Syndrome 2 |
|
Mitral stenosis, Ventricular septal defect, Polyhydramnios, Increased nuchal translucency, Cardio... |
OMIM:605275 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Ventricular septal defect |
OMIM:618504 |
Heterotaxy, Visceral, 12, Autosomal |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Common atrium, Complete atrioven... |
OMIM:619702 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Camptodactyly |
OMIM:301039 |
Noonan Syndrome 4 |
|
Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal defect, Hypertrophic ... |
OMIM:610733 |
Burn-Mckeown Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypomimic face |
OMIM:608572 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Abnormal heart morphology, Arthrogryposis-like hand anomaly, Macroglos... |
ORPHA:369891 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Congenital Rubella Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:290 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Ventricular septal defect, Parachute mitral valve, Atrial septal defect, Double outlet right vent... |
OMIM:618316 |
3C Syndrome |
|
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... |
ORPHA:7 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Donnai-Barrow Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia |
ORPHA:2143 |
Emanuel Syndrome |
|
Torticollis, Ventricular septal defect, Truncus arteriosus, Congenital diaphragmatic hernia, Join... |
OMIM:609029 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect |
OMIM:617616 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepatic steatosis, Lacticaciduria, Ch... |
OMIM:124000 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Increased serum pyruvate, Flexion contracture, Ventricular septal defect |
ORPHA:79243 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Polyhydramnios |
OMIM:219730 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Atrial septal defect, Peau d'orange, Ventricular septal defect, Elevated circulating creatine kin... |
OMIM:614576 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Ventricular septal defect |
OMIM:601357 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Mitral regurgitation, Tricuspid regurgitation, Ventricular septal defect |
OMIM:615879 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Ventricular septal defect, Polyhydramnios, Lymphedema, Hypocalcemia, Ascites, Hypoproteinemia |
OMIM:235255 |
Keutel Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:85202 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Nephrocalcinosis, Hepatic steatosis, Hypothyroidism, Tubulointerstitial fi... |
ORPHA:79259 |
Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect |
OMIM:612528 |
Pontocerebellar Hypoplasia, Type 17 |
|
Secundum atrial septal defect, Ventricular septal defect, Limb hypertonia |
OMIM:619909 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Secundum atrial septal defect, Atrial septal defect, Perimembranous ventricular septal defect, Ve... |
OMIM:600987 |
Braddock-Carey Syndrome 1 |
|
Aortic valve prolapse, Ventricular septal defect, Camptodactyly |
OMIM:619980 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Anterior ... |
ORPHA:226307 |
Trisomy 1Q |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... |
ORPHA:261344 |
Heterotaxy, Visceral, 1, X-Linked |
|
Right atrial isomerism, Mitral stenosis, Ventricular septal defect, Dextrocardia, Cardiomegaly, M... |
OMIM:306955 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart, Transposition of the grea... |
ORPHA:1727 |
Trichohepatoenteric Syndrome 1 |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Increased serum iron, Hypoalbumi... |
OMIM:222470 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve |
ORPHA:329224 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Female hypogonadism, Mitral stenosis, Decreased serum leptin, Angina pector... |
ORPHA:740 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:3306 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve |
OMIM:617751 |
Suleiman-El-Hattab Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:618950 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Prolonged QT interval, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney,... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Prolonged QT interval, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney,... |
ORPHA:99228 |
Monosomy X |
|
Prolonged QT interval, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney,... |
ORPHA:99226 |
Turner Syndrome |
|
Prolonged QT interval, High urinary gonadotropin level, Renal hypoplasia/aplasia, Ectopic kidney,... |
ORPHA:881 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent foramen ovale, Ventricular septal defect |
OMIM:610338 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia |
ORPHA:1488 |
19P13.12 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Hyperlipidemia, Mitral regurgitation, Atrial sep... |
ORPHA:254346 |
Idiopathic Copper-Associated Cirrhosis |
|
Increased circulating copper concentration, Decreased circulating ceruloplasmin concentration |
ORPHA:209919 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Partial anomalous pulmonary venous return, Anomalous pul... |
OMIM:619657 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Heart murmur, Bacterial endocarditis |
ORPHA:1054 |
Meacham Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Anomalous pul... |
ORPHA:3097 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Elevated circulating creatine kinase concentration, Polyhydramnios, Ab... |
OMIM:301056 |
Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Ventricular septal defect, Polyhydramnios, Secundum atrial septal defe... |
OMIM:612562 |
Pelger-Huet Anomaly |
|
Lower limb hypertonia, Ventricular septal defect, Foot dorsiflexor weakness |
OMIM:169400 |
Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Limb hypertonia |
OMIM:616920 |
Diabetic Embryopathy |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Tetralogy of Fallot, Ventricular septal def... |
ORPHA:1926 |
Opsismodysplasia |
|
Renal phosphate wasting, Hypophosphatemia |
OMIM:258480 |
15Q14 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:261190 |
Microphthalmia, Syndromic 9 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Hypoplastic left atrium, Neonatal dea... |
OMIM:601186 |
Seckel Syndrome 9 |
|
Atrial septal defect, Polyhydramnios, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:616777 |
Congenital Disorder Of Glycosylation, Type It |
|
Tachycardia, Ventricular septal defect, Elevated circulating creatine kinase concentration, Sudde... |
OMIM:614921 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great arteries |
OMIM:619995 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Portal hypertension, Hypertrophic cardiomyopathy, ... |
ORPHA:309854 |
Spondylo-Ocular Syndrome |
|
Facial hypotonia, Ventricular septal defect |
ORPHA:85194 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:75389 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Pontocerebellar Hypoplasia, Type 8 |
|
Arthrogryposis multiplex congenita, Ventricular septal defect, Patent foramen ovale |
OMIM:614961 |
Trisomy 13 |
|
Atrial septal defect, Ventricular septal defect, Hydrops fetalis |
ORPHA:3378 |
Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect |
OMIM:218350 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:612938 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Ventricular septal defect, Nonimmune hydrops fetalis, Lymphedema, P... |
OMIM:235510 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Ventricular septal defect, Bicuspid aortic valve, Atrioventricular block, Mitral valve prolapse, ... |
ORPHA:371428 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98907 |
Methanol Poisoning |
|
Hyperlipidemia, Abnormal optic nerve morphology |
ORPHA:31825 |
Aceruloplasminemia |
|
Increased circulating ferritin concentration, Torticollis, Aceruloplasminemia, Decreased serum iron |
OMIM:604290 |
Alström Syndrome |
|
Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Gm1 Gangliosidosis |
|
Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Aplasia/Hypoplasia ... |
ORPHA:354 |
Emanuel Syndrome |
|
Multiple joint contractures, Ventricular septal defect, Truncus arteriosus, Congenital diaphragma... |
ORPHA:96170 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Atrial septal defect, Flexion contracture, Ventricular septal defect |
OMIM:617452 |
Cardiofacioneurodevelopmental Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis, Camptodactyly |
OMIM:619123 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Ventricular septal defect, Telangiectasia, Atrial septal defect, Tetralogy of Fallot, Patent fora... |
OMIM:612582 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Abnormal heart... |
ORPHA:457279 |
Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Abnormality of retinal pigmentation, Hypertriglyceridemia, Increased circulating fe... |
ORPHA:167 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Atrial septal defect, Ventricular septal defect |
OMIM:619769 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:615630 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Increased urinary glycerol, Hypoglycemia, Hypertriglyceridemia, Hyperg... |
OMIM:307030 |
Syndromic Diarrhea |
|
Aortic regurgitation, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology... |
ORPHA:84064 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Polyhydramnios, Mitral valve prolapse, Pulmonic stenosis, Tricuspid va... |
OMIM:609942 |
Mosaic Trisomy 9 |
|
Abnormal heart valve morphology, Ventricular septal defect, Dextrocardia, Camptodactyly of finger... |
ORPHA:99776 |
19P13.3 Microduplication Syndrome |
|
Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:447980 |
Truncus Arteriosus |
|
Aortic regurgitation, Tachycardia, Pulmonary edema, Ventricular septal defect, Abnormal heart val... |
ORPHA:3384 |
Mednik Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
ORPHA:171851 |
Hereditary Angioedema Type 1 |
|
Hypotension |
ORPHA:100050 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo... |
ORPHA:99050 |
Verheij Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:615583 |
Ogden Syndrome |
|
Cardiogenic shock, Arrhythmia, Ventricular septal defect, Torticollis |
ORPHA:276432 |
Warsaw Breakage Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:613398 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary insufficiency, Bicuspid aortic valve, Ventricular septal defect, Parachute mitral valve... |
OMIM:265380 |
Renal Agenesis |
|
Hypertension, Ventricular septal defect, Oligohydramnios |
ORPHA:411709 |
3P25.3 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Knee flexion contracture, Pulmonic stenosis, ... |
ORPHA:435638 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Contractures of the large joints, Ventricular septal defect |
ORPHA:3078 |
Dominant Beta-Thalassemia |
|
Hypoplasia of the musculature, High-output congestive heart failure, Dilated cardiomyopathy, Abno... |
ORPHA:231226 |
Stankiewicz-Isidor Syndrome |
|
Truncus arteriosus, Ventricular septal defect |
OMIM:617516 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Atrial septal defect, Limb joint contracture, Ventricular septal defect |
ORPHA:505237 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect |
ORPHA:2519 |
Aceruloplasminemia |
|
Torticollis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper conc... |
ORPHA:48818 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Ventricular septal defect |
ORPHA:452 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Ventricular septal defect |
OMIM:616901 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Tachycardia, Ventricular septal defect, Dextrocardia, Coronary sinus enla... |
OMIM:618280 |
Meckel Syndrome, Type 4 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:611134 |
Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect |
OMIM:613680 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia |
OMIM:617591 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:617395 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, R... |
ORPHA:289176 |
Huppke-Brendel Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Oligohydramnios |
OMIM:611812 |
Cog2-Cdg |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
ORPHA:435934 |
Codas Syndrome |
|
Ventricular septal defect |
ORPHA:1458 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Ventricular septal defect, Polyhydramnios, Hypocalcemia, Ascites, Hypoproteinemia |
ORPHA:1655 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect |
OMIM:618325 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fi... |
ORPHA:137675 |
Kury-Isidor Syndrome |
|
Ventricular septal defect |
OMIM:619762 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia, Macular atrophy |
OMIM:619418 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Abnormal heart morphology |
ORPHA:404440 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... |
ORPHA:293987 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia |
ORPHA:369837 |
Fanconi Anemia, Complementation Group I |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:609053 |
Raine Syndrome |
|
Hydroureter, Hydronephrosis, Hypophosphatemia |
OMIM:259775 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Double outlet right ventricle, Bicuspid aortic valve |
OMIM:616652 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Atrial septal defect, Ventricular septal defect, Polyhydramnios, Camptodactyly |
OMIM:617360 |
Pentalogy Of Cantrell |
|
Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphragmatic hernia, Atri... |
ORPHA:1335 |
Aminopterin/Methotrexate Embryofetopathy |
|
Situs inversus totalis, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1908 |
Kapur-Toriello Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect |
ORPHA:2328 |
Fanconi Anemia, Complementation Group N |
|
Ventricular septal defect |
OMIM:610832 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Char Syndrome |
|
Ventricular septal defect |
ORPHA:46627 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Ventricular septal defect |
OMIM:617895 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Ventricular septal defect |
OMIM:220500 |
H Syndrome |
|
Hypertriglyceridemia |
ORPHA:168569 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Scapular winging, Ventricular septal defect |
OMIM:617061 |
Orotic Aciduria |
|
Atrial septal defect, Ventricular septal defect |
OMIM:258900 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect, High nonceruloplasmin-bound serum copper, Limb hypertonia |
ORPHA:457351 |
Filippi Syndrome |
|
Ventricular septal defect |
ORPHA:3255 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Joint contracture of the hand, Transposition of the great arteries, Pu... |
OMIM:201000 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Congestive heart failure, Atrial septa... |
OMIM:601808 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Beta-Thalassemia Major |
|
Hypoplasia of the musculature, High-output congestive heart failure, Dilated cardiomyopathy, Abno... |
ORPHA:231214 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ventricular septal defect, Patent foramen ovale, Oligohydramnios |
OMIM:620113 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect |
ORPHA:1770 |
Cat Eye Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Total anomalous pulmonary venous return, Pulmo... |
OMIM:115470 |
Dysosteosclerosis |
|
Ventricular septal defect |
ORPHA:1782 |
X Small Rings |
|
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Oligohydramnios |
ORPHA:96201 |
Insulin-Like Growth Factor I, Resistance To |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale |
OMIM:270450 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Part... |
OMIM:270100 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Ventricular septal defect, Polyhydramnios |
OMIM:615503 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Abnormal heart m... |
ORPHA:453499 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger |
ORPHA:2876 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... |
ORPHA:77293 |
Joubert Syndrome 14 |
|
Intracranial hemorrhage, Hypertension, Ventricular septal defect |
OMIM:614424 |
Short Stature-Micrognathia Syndrome |
|
Skeletal muscle hypertrophy, Ventricular septal defect |
OMIM:617164 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
ORPHA:2255 |
Encephalocraniocutaneous Lipomatosis |
|
Atrial septal defect, Ventricular septal defect, Subvalvular aortic stenosis |
OMIM:613001 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Hematochezia, Ventricular septal defect, Polyhydramnios |
OMIM:243150 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Double ou... |
OMIM:615067 |
Pseudotrisomy 13 Syndrome |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Atrial septal de... |
OMIM:264480 |
Mgat2-Cdg |
|
Ventricular septal defect, Hydrops fetalis, Abnormal heart morphology, Reflex asystolic syncope, ... |
ORPHA:79329 |
Acrocardiofacial Syndrome |
|
Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Atrial septal defect, Truncu... |
ORPHA:2008 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Cardiomegaly, Elbow flexion contracture, Mitr... |
OMIM:602782 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Ventricular septal defect |
OMIM:620073 |
Chromosome 9P Deletion Syndrome |
|
Atrial septal defect, Perimembranous ventricular septal defect, Ventricular septal defect, Heart ... |
OMIM:158170 |
Alagille Syndrome 1 |
|
Pigmentary retinopathy, Hypertriglyceridemia, Chorioretinal atrophy, Hypercholesterolemia |
OMIM:118450 |
Holt-Oram Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the pectoralis major muscle,... |
OMIM:142900 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Atrial septal defect, Ventricular septal defect |
ORPHA:457193 |
Pmm2-Cdg |
|
Pericarditis, Proteinuria, Hypogonadotropic hypogonadism, Elevated circulating growth hormone con... |
ORPHA:79318 |
Kapur-Toriello Syndrome |
|
Atrial septal defect, Joint contracture of the hand, Ventricular septal defect, Camptodactyly of ... |
OMIM:244300 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Knee fl... |
OMIM:178110 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Ventricular septal defect |
OMIM:145420 |
16Q24.3 Microdeletion Syndrome |
|
Mitral regurgitation, Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:261250 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal heart morphology, Hypoplastic left heart, Double outlet right... |
ORPHA:2209 |
Familial Benign Copper Deficiency |
|
Decreased circulating copper concentration |
ORPHA:1551 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect |
OMIM:616449 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... |
OMIM:614947 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Dysplastic pulmonary valve |
OMIM:619103 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Atrial septal defect, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventri... |
OMIM:300998 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Ventricular septal defect, Heart murmur |
ORPHA:166035 |
Ritscher-Schinzel Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Camptodactyly |
OMIM:300963 |
Chromosome 15Q25 Deletion Syndrome |
|
Ventricular septal defect, Dextrocardia, Congenital diaphragmatic hernia, Coronary artery fistula... |
OMIM:614294 |
Alagille Syndrome |
|
Atrial septal defect, Hypertension, Telangiectasia of the skin, Ventricular septal defect |
ORPHA:52 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:617159 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... |
OMIM:242150 |
X-Linked Hypophosphatemia |
|
Renal phosphate wasting, Hypocalciuria, Hypophosphatemia |
ORPHA:89936 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect |
ORPHA:52055 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect |
OMIM:619312 |
Irida Syndrome |
|
Decreased circulating copper concentration |
ORPHA:209981 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Ventricular septal defect, Aortic regurgitation, Subvalvular aortic stenosis |
OMIM:614114 |
Tetraamelia Syndrome 2 |
|
Ventricular septal defect |
OMIM:618021 |
Bohring-Opitz Syndrome |
|
Ventricular septal defect, Polyhydramnios, Flexion contracture, Camptodactyly, Atrial septal defect |
OMIM:605039 |
Short-Rib Thoracic Dysplasia 12 |
|
Ventricular septal defect, Polyhydramnios, Edema, Neonatal death, Ascites, Patent foramen ovale |
OMIM:269860 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610978 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Diastasis recti, Macroglossia, Pulmonic steno... |
ORPHA:488632 |
Distal Duplication 5Q |
|
Ventricular septal defect, Dextrocardia |
ORPHA:96097 |
Thakker-Donnai Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries, Congenital d... |
ORPHA:1780 |
Mosaic Trisomy 1 |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Congenital diaphragmatic hern... |
ORPHA:1692 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Splenomegaly, Hypocalcemia, Hypophosphatemia, Pulmonary arterial hypertension |
ORPHA:667 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect |
OMIM:610536 |
Donnai-Barrow Syndrome |
|
Diaphragmatic eventration, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:222448 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect |
ORPHA:77298 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Flexion contracture, Ventricular septal defect |
OMIM:309520 |
Distal Deletion 19P |
|
Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... |
OMIM:309801 |
Beta-Thalassemia Intermedia |
|
High-output congestive heart failure, Pulmonary arterial hypertension, Abnormality of iron homeos... |
ORPHA:231222 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
19Q13.11 Microdeletion Syndrome |
|
Ventricular septal defect |
ORPHA:217346 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Hypospadias, Hypoglycemia, Increased hepatocellular lipid droplets, Microvesicular hep... |
OMIM:220111 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect, Palpebral edema, Conjug... |
OMIM:614866 |
Griscelli Syndrome Type 2 |
|
Hyperlipidemia |
ORPHA:79477 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Ventricular septal defect, Congenital diaphragmatic hernia, Camptodactyly |
OMIM:617602 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:612530 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Aortic regurgitation, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal... |
OMIM:607721 |
X-Linked Intellectual Disability, Nascimento Type |
|
Ventricular septal defect, Double outlet right ventricle, Pulmonary arterial hypertension, Mitral... |
ORPHA:163956 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Hypertension, Br... |
OMIM:614653 |
Sotos Syndrome |
|
Atrial septal defect, Muscular ventricular septal defect, Ventricular septal defect |
OMIM:117550 |
Alg9-Cdg |
|
Torticollis, Tricuspid regurgitation, Ventricular septal defect, Hypoplasia of the musculature, P... |
ORPHA:79328 |
Phelan-Mcdermid Syndrome |
|
Ventricular septal defect, Palpebral edema, Lymphedema |
OMIM:606232 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Atrial septal defect, Coronary artery fistula, Ventricular septal defect, Neonatal death |
OMIM:620024 |
Adams-Oliver Syndrome 1 |
|
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... |
OMIM:100300 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Dehydration, Macroglossia, Oligohydramnios |
ORPHA:96191 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Scapular winging, Ventricular septal defect, Mitral regurgitation, Congeni... |
OMIM:615582 |
Plague |
|
Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Hypotension, Arrhythmia |
ORPHA:707 |
Kleefstra Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Macroglossia, Arrhythmia, Tetralogy of Fallot |
ORPHA:261494 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Hydrops fetalis, Congenital diaphragmatic hernia |
ORPHA:268249 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... |
ORPHA:506 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Edema, Polyhydramnios, Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atria... |
OMIM:619534 |
Brain-Lung-Thyroid Syndrome |
|
Ventricular septal defect, Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary ar... |
ORPHA:209905 |
Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
OMIM:277600 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect |
OMIM:106260 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Polyhydramnios, Right bundle branch block, Mi... |
OMIM:617506 |
Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Congestive heart failure, Mitral regurgitation, Ventricular septal defect |
OMIM:123700 |
Koolen-De Vries Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Hypotrophy of the small hand muscles, Pulmonic ... |
OMIM:610443 |
Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration |
OMIM:619573 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration |
OMIM:121270 |
16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:261236 |
Diamond-Blackfan Anemia 10 |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia |
OMIM:613309 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Ventricular septal defect |
ORPHA:251038 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Tachycardia, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Car... |
ORPHA:99125 |
Recombinant 8 Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Camptodactyly of finger |
ORPHA:96167 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect, Decreased muscle mass, Bicuspid aortic valve |
OMIM:130720 |
Ogden Syndrome |
|
Premature atrial contractions, Torticollis, Bicuspid aortic valve, Left atrial enlargement, Ventr... |
OMIM:300855 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Pulmonic stenosis |
OMIM:610759 |
Codas Syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect, Polyhydramnios |
OMIM:600373 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Atrial septal defect, Increased nuchal translucency, Ventricular septal defect |
ORPHA:79345 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect |
OMIM:300472 |
Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Diaphragmatic eventration, Ventricular septal defect, Polyhydramnios, Aortopulmonary window, Apla... |
OMIM:620025 |
Velocardiofacial Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Hypocalcemia |
OMIM:192430 |
Down Syndrome |
|
Ventricular septal defect, Complete atrioventricular canal defect, Partial anomalous pulmonary ve... |
OMIM:190685 |
Zellweger Syndrome |
|
Ventricular septal defect |
ORPHA:912 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Decreased response to growth hormone stimulation test, Congestive heart failure, Hor... |
ORPHA:444077 |
Hand-Foot-Genital Syndrome |
|
Ventricular septal defect |
ORPHA:2438 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Ventricular septal defect, Heart murmur, Intracranial hemorrhage, Hypocalcemia, Hyperbilirubinemi... |
ORPHA:163979 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Aorti... |
ORPHA:464311 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ventricular septal defect, Oligohydramnios |
OMIM:619229 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect |
OMIM:300514 |
Ellis Van Creveld Syndrome |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Situs inversus totalis,... |
ORPHA:289 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Mckusick-Kaufman Syndrome |
|
Atrial septal defect, Ventricular septal defect, Tetralogy of Fallot, Hypoplastic left heart |
ORPHA:2473 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Hydrops fetalis |
OMIM:263520 |
Ulnar-Mammary Syndrome |
|
Arrhythmia, Aplasia of the pectoralis major muscle, Ventricular septal defect, Camptodactyly of f... |
ORPHA:3138 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Hypoplastic left heart, Tetralogy of Fallot, Patent foramen ovale |
OMIM:618748 |
Duane-Radial Ray Syndrome |
|
Ventricular septal defect, Facial palsy, Small thenar eminence, Pectoralis hypoplasia, Atrial sep... |
OMIM:607323 |
Lateral Meningocele Syndrome |
|
Ventricular septal defect |
ORPHA:2789 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:619127 |
Craniofacioskeletal Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypocalcemia |
OMIM:300712 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Situs ... |
ORPHA:2461 |
Chops Syndrome |
|
Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary venous return |
OMIM:616368 |
Cerebellofaciodental Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
OMIM:616202 |
Trichohepatoneurodevelopmental Syndrome |
|
Ventricular septal defect, Polyhydramnios, Macroglossia, Distal arthrogryposis, Increased serum b... |
OMIM:618268 |
Cerebellar-Facial-Dental Syndrome |
|
Foot joint contracture, Ventricular septal defect, Mitral valve prolapse, Abnormal T-wave, Limb h... |
ORPHA:444072 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic ... |
ORPHA:2092 |
C Syndrome |
|
Ventricular septal defect |
OMIM:211750 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Camptodactyly, Paten... |
OMIM:616894 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Ventricular septal defect |
OMIM:617798 |
Osteopathia Striata With Cranial Sclerosis |
|
Ventricular septal defect, Facial palsy, Polyhydramnios, Camptodactyly, Atrial septal defect, Joi... |
OMIM:300373 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect, Contracture of ... |
ORPHA:464738 |
Trisomy 18 |
|
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Atrial septa... |
ORPHA:3380 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Limb hypertonia |
OMIM:609460 |
Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Camptodactyly |
OMIM:272950 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... |
OMIM:256040 |
Orofaciodigital Syndrome V |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:174300 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Flexion contracture, Ventricular septal defect |
OMIM:619306 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Ventricular septal defect |
OMIM:212066 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Elbow flexion contracture, Mitral regurgitat... |
OMIM:608328 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Macroglossia, Elevated circulating long chain fatty acid concentration, Ventricular septal defect |
OMIM:214100 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Ventricular septal defect, Facia... |
ORPHA:508498 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Ventricular septal defect |
OMIM:250410 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Macroglossia, Perimembranous ventricular septal defect, Ventricular septal defect |
OMIM:301040 |
Congenital Tracheal Stenosis |
|
Ventricular septal defect, Fetal ascites, Polyhydramnios, Hypoplastic left heart, Oligohydramnios |
ORPHA:141127 |
Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Secundum atrial septal defect, Mitral valve prolapse, Camptodactyly, A... |
OMIM:249420 |
Thauvin-Robinet-Faivre Syndrome |
|
Macroglossia, Ventricular septal defect, Pedal edema, Mitral valve prolapse |
OMIM:617107 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Macroglossia, Ventricular septal defect, Patent foramen ovale |
OMIM:613457 |
Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Ventricular septal defect, Hypocholesterolemia |
OMIM:244450 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Ventricular septal defect |
ORPHA:251028 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Camptodactyly of finger, Atrial septal defect, T... |
ORPHA:261330 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Myocardial infarction, Sudden cardiac death, Hyperlipidemia, Tendon xanthomatosi... |
ORPHA:391665 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
Cohen Syndrome |
|
Ventricular septal defect, Mitral valve prolapse |
ORPHA:193 |
Fryns Syndrome |
|
Ventricular septal defect, Polyhydramnios, Aplasia of the left hemidiaphragm, Stillbirth, Chyloth... |
OMIM:229850 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... |
OMIM:617063 |
Diets-Jongmans Syndrome |
|
Polyhydramnios, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:618846 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Multiple joint contractures, Ventricular septal defect, Aortic valve stenos... |
ORPHA:464306 |
Coffin-Siris Syndrome 4 |
|
Ventricular septal defect, Mitral atresia, Macroglossia, Pulmonic stenosis, Atrial septal defect |
OMIM:614609 |
Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Camptodactyly of finger, C... |
ORPHA:373 |
Wiedemann-Rautenstrauch Syndrome |
|
Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia, Hypertriglyceridemia |
ORPHA:3455 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Pulmonary arterial hypertension, Ventricular septal defect, Patent foramen ovale, Congenital diap... |
OMIM:618454 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Ventricular septal defect, Bicuspid aortic valve, Increased nuchal translucency, Type 1 muscle fi... |
ORPHA:352665 |
3Mc Syndrome 1 |
|
Atrial septal defect, Diastasis recti, Ventricular septal defect, Conjunctival telangiectasia |
OMIM:257920 |
Mosaic Trisomy 16 |
|
Atrial septal defect, Ventricular septal defect, Abnormal heart morphology |
ORPHA:1708 |
Holoprosencephaly |
|
Hyponatremia, Ventricular septal defect, Abnormal pulmonary valve morphology, Congenital diaphrag... |
ORPHA:2162 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Ventricular septal defect, Shoulder muscle hypoplasia, Edema of the ... |
OMIM:274000 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased circulating cortisol level, Hyperaldosteronism, Paradoxical increased cortisol secretio... |
ORPHA:189427 |
Costello Syndrome |
|
Ventricular septal defect, Rhabdomyosarcoma, Polyhydramnios, Achilles tendon contracture, Mitral ... |
OMIM:218040 |
Trichothiodystrophy |
|
Cardiomyopathy, Multiple joint contractures, Ventricular septal defect |
ORPHA:33364 |
2Q31.1 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger |
ORPHA:251014 |
Feingold Syndrome 1 |
|
Ventricular septal defect, Tricuspid atresia, Tricuspid stenosis, Polyhydramnios |
OMIM:164280 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Abnormal heart morphology, Atrial sep... |
ORPHA:2745 |
Oculodentodigital Dysplasia |
|
Arrhythmia, Ventricular septal defect, Camptodactyly of finger |
ORPHA:2710 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Atrial septal defect, Atriove... |
ORPHA:3047 |
Myhre Syndrome |
|
Ventricular septal defect, Pericardial effusion, Generalized muscle hypertrophy, Skeletal muscle ... |
OMIM:139210 |
Phace Association |
|
Ventricular septal defect |
OMIM:606519 |
Opitz Gbbb Syndrome |
|
Ventricular septal defect |
OMIM:300000 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Polyhydramnios, Stillbirth, Transposition of the great arteries, Campt... |
OMIM:256520 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia |
OMIM:264090 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se... |
OMIM:210710 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Ventricular hypertrophy, Aortic regurgitation, Tricuspid regurgitation, Ventricular septal defect... |
OMIM:143095 |
Leukocyte Adhesion Deficiency |
|
Recurrent urinary tract infections, Glomerulonephritis, Hemolytic-uremic syndrome, Peritonitis, H... |
ORPHA:2968 |
22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Ventricular septal defect, Abnormal pulmonary valve morphology, Poly... |
ORPHA:567 |
Distal 22Q11.2 Microduplication Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, Palpebral edema, Mac... |
ORPHA:261337 |
Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Patent foramen ... |
OMIM:301043 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Abnorm... |
ORPHA:466791 |
De Barsy Syndrome |
|
Decreased muscle mass, Ventricular septal defect |
ORPHA:2962 |
Okamoto Syndrome |
|
Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septal defect, Abnor... |
ORPHA:2729 |
7Q11.23 Microduplication Syndrome |
|
Atrial septal defect, Aortic valve stenosis, Ventricular septal defect, Congenital diaphragmatic ... |
ORPHA:96121 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Ventricular septal defect, Polyhydramnios |
ORPHA:436252 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Increased nuchal translucency, Hydrops f... |
ORPHA:3472 |
Noonan Syndrome 1 |
|
Ventricular septal defect, Lymphedema, Chylothorax, Pulmonic stenosis, Atrial septal defect, Hype... |
OMIM:163950 |
Mosaic Trisomy 20 |
|
Abnormal mitral valve morphology, Dysplastic tricuspid valve, Ventricular septal defect |
ORPHA:1724 |
Autosomal Recessive Robinow Syndrome |
|
Ventricular septal defect, Abnormal pulmonary valve morphology, Camptodactyly of finger, Abnormal... |
ORPHA:1507 |
Robinow Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Pulmonic stenosis, Atrial septal defect, Pu... |
ORPHA:97360 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Tetralogy of Fallot, Ventricular septal defect |
OMIM:600460 |
Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia |
OMIM:619895 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ventricular septal defect, Joint contracture of the hand, Transposition of the great arteries, Su... |
OMIM:280000 |
Fanconi Anemia, Complementation Group C |
|
Flexion contracture, Ventricular septal defect |
OMIM:227645 |
Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Pulmonary valve atresia, Ventricular septal defect |
OMIM:301030 |
Marshall-Smith Syndrome |
|
Ventricular septal defect, Premature ventricular contraction, Hypertension, Atrial septal defect,... |
OMIM:602535 |
Pallister-Hall Syndrome |
|
Neonatal death, Ventricular septal defect |
OMIM:146510 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Fetal ascites, Flexion contracture, Knee flexion contracture, Hypocalcemia, Diaphragmatic eventra... |
OMIM:619503 |
Coffin-Siris Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Abnormal heart morphology |
ORPHA:1465 |
Diamond-Blackfan Anemia |
|
Ventricular septal defect, Nonimmune hydrops fetalis, Abnormal heart morphology, Atrial septal de... |
ORPHA:124 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Hematochezia, Ventricular septal defect |
OMIM:619575 |
Smith-Lemli-Opitz Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydramnios, Increased nuchal tran... |
ORPHA:818 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Abnormal heart morphology, Mitral valve prolapse, Mitral regurgitation... |
ORPHA:363700 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhag... |
ORPHA:363958 |
Jacobsen Syndrome |
|
Atrial septal defect, Flexion contracture, Ventricular septal defect |
OMIM:147791 |
Chime Syndrome |
|
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... |
ORPHA:3474 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Ventricular septal defect, Ventricular septal hypertrophy, Oligohydramnios |
OMIM:608670 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... |
ORPHA:268261 |
Esophageal Atresia |
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Tetralogy of Fallot, Ventricular septal defect, Polyhydramnios |
ORPHA:1199 |
Williams Syndrome |
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Bicuspid aortic valve, Elevated circulating creatine kinase concentration, Myocardial infarction,... |
ORPHA:904 |
Apert Syndrome |
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Overriding aorta, Ventricular septal defect |
OMIM:101200 |
Limb Body Wall Complex |
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Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormal heart morph... |
ORPHA:2369 |
Cardiospondylocarpofacial Syndrome |
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Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... |
OMIM:157800 |
Arboleda-Tham Syndrome |
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Ventricular septal defect, Secundum atrial septal defect, Upper limb amyotrophy, Upper eyelid ede... |
OMIM:616268 |
Parenteral Nutrition-Associated Cholestasis |
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Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Ventricular septal defect, Bicuspid aortic valve, Flexion contracture, Mitral regurgitation, Atri... |
OMIM:271640 |
Hydrolethalus Syndrome 1 |
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Ventricular septal defect, Polyhydramnios, Complete atrioventricular canal defect, Stillbirth, Ag... |
OMIM:236680 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Ventricular septal defect, Abnormal right ventricle morphology, Mitral valve prolapse, Macrogloss... |
ORPHA:500095 |
Cerebrocostomandibular Syndrome |
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Atrial septal defect, Ventricular septal defect, Elbow flexion contracture, Polyhydramnios |
OMIM:117650 |
Chromosome 16P13.3 Duplication Syndrome |
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Ventricular septal defect, Facial hypotonia, Small thenar eminence, Camptodactyly, Atrial septal ... |
OMIM:613458 |
Hardikar Syndrome |
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Ventricular septal defect, Portal hypertension, Hematemesis, Partial anomalous pulmonary venous r... |
OMIM:301068 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Bicuspid aortic valve, Ventricular septal defect, Decreased serum iron, Abnormal heart morphology... |
ORPHA:438213 |
Cornelia De Lange Syndrome 1 |
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Elbow flexion contracture, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:122470 |
Specc1L-Related Hypertelorism Syndrome |
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Atrial septal defect, Arrhythmia, Tetralogy of Fallot, Ventricular septal defect |
ORPHA:1519 |
Degcags Syndrome |
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Tachycardia, Diaphragmatic eventration, Ventricular septal defect, Polyhydramnios, Pulmonic steno... |
OMIM:619488 |
Microphthalmia, Syndromic 2 |
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Ventricular septal defect, Dextrocardia, Flexion contracture, Double outlet right ventricle, Mitr... |
OMIM:300166 |
Alzahrani-Kuwahara Syndrome |
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Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Coronary sinus enlargement |
OMIM:619268 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Ventricular septal defect, Polyhydramnios, Dilatation of the ventricular cavity, Lower-limb joint... |
ORPHA:459070 |
Acute Transverse Myelitis |
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Orthostatic hypotension, Decreased circulating copper concentration, Subarachnoid hemorrhage, Upp... |
ORPHA:139417 |
Cerebrocostomandibular Syndrome |
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Ventricular septal defect |
ORPHA:1393 |
Diamond-Blackfan Anemia 1 |
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Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Small thenar eminence, A... |
OMIM:105650 |
Jacobsen Syndrome |
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Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart |
ORPHA:2308 |
8Q24.3 Microdeletion Syndrome |
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Gastrointestinal hemorrhage, Ventricular septal defect, Complete atrioventricular canal defect, O... |
ORPHA:508488 |
Johanson-Blizzard Syndrome |
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Ventricular septal defect, Increased VLDL cholesterol concentration, Portal hypertension, Conjuga... |
OMIM:243800 |
Larsen Syndrome |
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Atrial septal defect, Ventricular septal defect |
OMIM:150250 |
Hajdu-Cheney Syndrome |
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Ventricular septal defect, Aortic valve stenosis, Mitral stenosis |
ORPHA:955 |
Immunodeficiency 47 |
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Hypercholesterolemia, Tricuspid regurgitation, Decreased circulating copper concentration |
OMIM:300972 |
Smith-Lemli-Opitz Syndrome |
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Ventricular septal defect, Hypertension, Hypoalbuminemia, Elevated circulating 7-dehydrocholester... |
OMIM:270400 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Abnormal heart ... |
ORPHA:353281 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Aortic regurgitation, Torticollis, Ventricular septal defect, Bicuspid aortic valve, Palpebral ed... |
OMIM:619475 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis recti, Polyhydr... |
ORPHA:96334 |
Rubinstein-Taybi Syndrome 1 |
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Ventricular septal defect, Polyhydramnios, Flexion contracture, Mitral valve prolapse, Perimembra... |
OMIM:180849 |
Catel-Manzke Syndrome |
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Overriding aorta, Ventricular septal defect, Dextrocardia, Camptodactyly |
OMIM:616145 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
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Ventricular septal defect, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous re... |
OMIM:301044 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
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Ventricular septal defect, Patent foramen ovale |
OMIM:616975 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Ventricular septal defect |
ORPHA:1071 |
Microphthalmia, Syndromic 3 |
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Ventricular septal defect |
OMIM:206900 |
Acrofacial Dysostosis 1, Nager Type |
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Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic hernia |
OMIM:154400 |
Zttk Syndrome |
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Atrial septal defect, Flexion contracture, Ventricular septal defect, Aortic regurgitation |
OMIM:617140 |
Renpenning Syndrome 1 |
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Ventricular septal defect, Situs inversus totalis, Tetralogy of Fallot, Camptodactyly, Atrial sep... |
OMIM:309500 |
Penile Agenesis |
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Atrial septal defect, Ventricular septal defect, Oligohydramnios |
ORPHA:49 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Ventricular septal defect, Facial hypotonia, Congenital diaphragmatic hernia, Diastasis recti, Po... |
OMIM:312870 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... |
OMIM:607872 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Polyhydramnios,... |
ORPHA:353277 |
Chromosome 13Q14 Deletion Syndrome |
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Ventricular septal defect, Patent foramen ovale |
OMIM:613884 |
Hajdu-Cheney Syndrome |
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Ventricular septal defect |
OMIM:102500 |
Charge Syndrome |
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Overriding aorta, Ventricular septal defect, Facial palsy, Polyhydramnios, Secundum atrial septal... |
OMIM:214800 |
Williams-Beuren Syndrome |
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Bicuspid aortic valve, Hypercalcemia, Ventricular septal defect, Portal hypertension, Flexion con... |
OMIM:194050 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
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Ventricular septal defect, Cerebral hemorrhage |
OMIM:616682 |
Keutel Syndrome |
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Hypertension, Ventricular septal defect, Pulmonic stenosis |
OMIM:245150 |
Omodysplasia 1 |
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Atrial septal defect, Ventricular septal defect |
OMIM:258315 |
Craniotubular Dysplasia, Ikegawa Type |
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Ventricular septal defect |
OMIM:619727 |
Occipital Horn Syndrome |
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Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decreased circulating... |
OMIM:304150 |
Early Infantile Epileptic Encephalopathy |
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Ventricular septal defect |
ORPHA:1934 |
Femoral-Facial Syndrome |
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Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:134780 |
Wrinkly Skin Syndrome |
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Decreased muscle mass, Atrial septal dilatation, High nonceruloplasmin-bound serum copper |
ORPHA:2834 |
Viss Syndrome |
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Contracture of the proximal interphalangeal joint of the 2nd toe, Epidural hemorrhage, Ventricula... |
OMIM:619472 |
Osteoporosis-Pseudoglioma Syndrome |
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Ventricular septal defect |
OMIM:259770 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Lower-limb joint contracture, Ventricular septal defect |
ORPHA:513456 |
Genitopatellar Syndrome |
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Hip contracture, Ventricular septal defect, Polyhydramnios, Knee flexion contracture, Atrial sept... |
OMIM:606170 |
Mowat-Wilson Syndrome |
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Ventricular septal defect, Generalized muscle hypertrophy, Abnormal heart morphology, Pulmonic st... |
OMIM:235730 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Tetralogy of Fallot, Ventricular septal defect |
OMIM:619525 |
Ulnar-Mammary Syndrome |
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Elbow flexion contracture, Arrhythmia, Ventricular septal defect |
OMIM:181450 |
Sotos Syndrome |
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Hip contracture, Ventricular septal defect, Hypercalcemia, Ankle flexion contracture, Bilateral c... |
ORPHA:821 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
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Ventricular septal defect, Hypocalcemia |
OMIM:620330 |
Cornelia De Lange Syndrome |
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Atrial septal defect, Increased nuchal translucency, Ventricular septal defect, Congenital diaphr... |
ORPHA:199 |
Roberts-Sc Phocomelia Syndrome |
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Ventricular septal defect, Ankle flexion contracture, Polyhydramnios, Elbow flexion contracture, ... |
OMIM:268300 |
Digeorge Syndrome |
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Truncus arteriosus, Tetralogy of Fallot, Ventricular septal defect, Hypocalcemia |
OMIM:188400 |
Wolf-Hirschhorn Syndrome |
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Atrial septal defect, Decreased muscle mass, Ventricular septal defect |
OMIM:194190 |
Vater/Vacterl Association |
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Tetralogy of Fallot, Ventricular septal defect, Transposition of the great arteries |
OMIM:192350 |
Coffin-Siris Syndrome 1 |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Congenital diaphragmatic he... |
OMIM:135900 |
Pallister-Hall Syndrome |
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Ventricular septal defect, Distal arthrogryposis, Atrial septal defect, Atrioventricular canal de... |
ORPHA:672 |
Peters-Plus Syndrome |
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Ventricular septal defect, Diastasis recti, Polyhydramnios, Pulmonic stenosis, Atrial septal defect |
OMIM:261540 |
Orofaciodigital Syndrome Xiv |
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Atrial septal defect, Ventricular septal defect |
OMIM:615948 |
Orofaciodigital Syndrome Type 14 |
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Ventricular septal defect |
ORPHA:434179 |
Proboscis Lateralis |
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Ventricular septal defect |
ORPHA:141099 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Polyhydramnios, Hydrops fetalis, Heart murmur, Cardiomyopathy, Pulmona... |
OMIM:216340 |
Kabuki Syndrome 1 |
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Atrial septal defect, Ventricular septal defect |
OMIM:147920 |
Pallister-Killian Syndrome |
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Edema of the dorsum of feet, Ventricular septal defect, Congenital diaphragmatic hernia, Polyhydr... |
OMIM:601803 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
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Atrial septal defect, Ventricular septal defect |
OMIM:619522 |
Townes-Brocks Syndrome 1 |
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Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect |
OMIM:107480 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Flexion co... |
ORPHA:261552 |
Craniofacial Microsomia 1 |
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Tetralogy of Fallot, Ventricular septal defect, Hypoplasia of facial musculature |
OMIM:164210 |
Congenital Disorder Of Glycosylation, Type Iin |
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OMIM:616721 |