| Lipodystrophy, Familial Partial, Type 1 |
|
Increased adipose tissue around the neck, Loss of gluteal subcutaneous adipose tissue, Increased ... |
OMIM:608600 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Hyperlipidemia, Sudden cardiac death, Impaired glucose tolerance, Hypertrigl... |
OMIM:610947 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... |
ORPHA:71529 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... |
OMIM:615703 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Type II diabetes mellitus, Loss of gluteal... |
OMIM:604367 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... |
ORPHA:280356 |
| Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia, Failure to thrive in in... |
OMIM:232700 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Lipodystrophy, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
| Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Hypoinsulinemia, Small for gestational age, Maturity-onset diabetes of the you... |
ORPHA:99886 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... |
ORPHA:263458 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturity-onset diabet... |
ORPHA:324575 |
| Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Myocardial infarction, Hypertension, Hypercholesterolemia |
OMIM:608320 |
| Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Myocardial infarction |
OMIM:108725 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
| Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology |
ORPHA:2398 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Generalized lipodystrophy, Lipodystrophy, Hype... |
OMIM:612526 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... |
OMIM:617912 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276575 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hyp... |
ORPHA:276580 |
| Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Increased circulating ACTH level, Congenital adrenal hyperplasia |
OMIM:613571 |
| Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
| Hyperinsulinism Due To Glucokinase Deficiency |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... |
ORPHA:79299 |
| Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:151660 |
| Immunodeficiency 42 |
|
Hypoplasia of the thymus |
OMIM:616622 |
| Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Hypogonadism, Insuli... |
ORPHA:181393 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of ... |
OMIM:614980 |
| Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... |
ORPHA:411593 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
| Loeffler Endocarditis |
|
Right bundle branch block, Pericarditis, Weight loss, Myocardial fibrosis, Abnormal morphology of... |
ORPHA:75566 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus |
ORPHA:228190 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Hyperinsulinemia, Lipoatrophy, Diabetes mellitus, Insulin resistance, Hypertension |
ORPHA:79084 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy, Hypogonadism, Diabetes mellitus |
OMIM:615981 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Hypoketotic hypoglyce... |
ORPHA:276556 |
| Ficolin 3 Deficiency |
|
Necrotizing enterocolitis, Verrucae, Recurrent lower respiratory tract infections, Recurrent Stap... |
OMIM:613860 |
| Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Hypotens... |
OMIM:616000 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increased intraabdom... |
ORPHA:79085 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Lipodystrophy, Hypertri... |
OMIM:615238 |
| Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
| Intellectual Developmental Disorder, X-Linked 106 |
|
Bicuspid aortic valve, Decreased testicular size, Open mouth, Thick vermilion border, Cryptorchid... |
OMIM:300997 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Increased adipose tissue around the neck, Hyperlipidemia, Loss of gluteal subcutaneous adipose ti... |
ORPHA:435660 |
| Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating reverse T3 concentration, Elevated circulating rT3/T3 ratio, Hypercholestero... |
OMIM:619855 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
| Neutral Lipid Storage Disease With Myopathy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Cardiomyopathy, Diabete... |
OMIM:610717 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Flexion contracture, Hyperglycemia |
OMIM:618856 |
| Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome |
OMIM:103900 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... |
OMIM:610021 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect |
OMIM:618496 |
| Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus |
OMIM:604381 |
| Congenital Generalized Lipodystrophy |
|
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Increased C-peptide level, Li... |
ORPHA:528 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... |
OMIM:617885 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Patent ductus arteriosus, Transposition of the great arteries, Truncus art... |
OMIM:612474 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Elevated circulating creatine kinase concentration, Arrh... |
OMIM:616516 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Gen... |
ORPHA:363400 |
| Cardiac Diverticulum |
|
Tricuspid atresia, Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Aortic valve ste... |
ORPHA:1686 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:613370 |
| Pierre Robin Syndrome |
|
Glossoptosis, Cor pulmonale, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609968 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus |
OMIM:602485 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... |
OMIM:256450 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Severe failure to thrive, Hyperglycemia |
OMIM:601410 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... |
ORPHA:71526 |
| Mandibuloacral Dysplasia |
|
Increased adipose tissue around the neck, Glucose intolerance, Hyperinsulinemia, Lipoatrophy, Inc... |
ORPHA:2457 |
| Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Cryptorchidism, Tooth agenesis, Cleft palate, Non-midline cleft lip |
ORPHA:1074 |
| Congenital Alveolar Capillary Dysplasia |
|
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal def... |
ORPHA:210122 |
| Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration |
OMIM:144600 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... |
OMIM:615779 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large for gestati... |
OMIM:601820 |
| Schuurs-Hoeijmakers Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve, Wide mouth, Diastema, Downturned corne... |
OMIM:615009 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Type II diabetes mellitus, Hyperglycemia |
OMIM:600496 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Reactive ... |
ORPHA:276608 |
| Primary Lipodystrophy |
|
Angina pectoris, Hyperlipidemia, Type II diabetes mellitus, Lipoatrophy, Lipodystrophy, Insulin r... |
ORPHA:90970 |
| Temple Syndrome |
|
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... |
OMIM:616222 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... |
OMIM:606762 |
| Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Esophageal varix, Hepatosplenomegaly |
OMIM:618955 |
| Coronary Arterial Fistula |
|
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... |
ORPHA:2041 |
| Reticular Dysgenesis |
|
Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... |
OMIM:615954 |
| Attrv122I Amyloidosis |
|
Angina pectoris, Cardiac amyloidosis, Atrial arrhythmia, Aortic valve stenosis, Restrictive cardi... |
ORPHA:85451 |
| Lessel-Kreienkamp Syndrome |
|
Dental malocclusion, Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductu... |
OMIM:619149 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, Lipodystroph... |
ORPHA:435651 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Patent ductus arteriosus, Hypoplastic left ... |
OMIM:618845 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Truncal obesity, Large for ... |
ORPHA:293964 |
| Partial Atrioventricular Septal Defect |
|
Angina pectoris, Double outlet right ventricle, Partial atrioventricular canal defect, Anomalous ... |
ORPHA:1330 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Short chordae tendineae of the tricuspid valve, Short chordae tendineae of... |
OMIM:314400 |
| Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
| Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Hypotension, Postural hypotension with compensatory tachyc... |
ORPHA:369873 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Atrial Septal Defect 9 |
|
Bicuspid aortic valve, Secundum atrial septal defect |
OMIM:614475 |
| Glycogen Storage Disease Iii |
|
Hyperlipidemia, Elevated circulating creatine kinase concentration, Hypoglycemia, Ventricular hyp... |
OMIM:232400 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance, Maternal diabetes, Hypertriglyceridemia, Insulin-resistant diabe... |
ORPHA:79083 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Primary gonadal insufficiency |
ORPHA:436182 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al... |
ORPHA:3453 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Pulmonic stenosis, Bicuspid aortic valve |
OMIM:616201 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Cerebral hemorrhage, ST segment depression, Left ventricular hypertrophy, Cerebral ischemia, Sync... |
ORPHA:90065 |
| Acquired Generalized Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating lipid concentration, Generalized lipodystrophy, Hypertrigl... |
ORPHA:79086 |
| Atrial Fibrillation, Familial, 13 |
|
Left atrial enlargement, Paroxysmal atrial fibrillation, Aortic valve stenosis |
OMIM:615377 |
| Diamond-Blackfan Anemia 11 |
|
Anemia of inadequate production, Bicuspid aortic valve, Cleft palate, Neutropenia, Bone marrow hy... |
OMIM:614900 |
| Mody |
|
Glucose intolerance, Hypoinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating insulin... |
ORPHA:552 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures |
OMIM:609975 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism, Hyperglycemia |
OMIM:307500 |
| Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... |
OMIM:608612 |
| Aortic Valve Disease 1 |
|
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Atrial septal defect, Cleft palate, Eosinophilic infiltration of the esoph... |
OMIM:609192 |
| Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... |
ORPHA:404 |
| Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Bicuspid aortic valve, Aortic valve stenosis |
OMIM:615599 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Small for gestational age, Diab... |
OMIM:262190 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Atrial septal defect |
OMIM:613355 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating insulin concentration, Decreased circulating free T3, Abnormal circulating s... |
ORPHA:171706 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Lipoatrophy, Cellulitis, Lipodystrophy, Hypertriglyceridemia, Diabetes mellitus, Insulin resistan... |
ORPHA:2348 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Flexion contracture, Lipodystrophy, Hypertriglyceridemia, Hypogonadism, Insulin resistance, Telan... |
OMIM:615381 |
| Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Left ventricular hypertrophy, Abnormal circulating renin, Glucocortocoid-ins... |
ORPHA:251274 |
| Diabetes And Deafness, Maternally Inherited |
|
Type II diabetes mellitus, Cardiomyopathy, Hyperglycemia |
OMIM:520000 |
| Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... |
ORPHA:403 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... |
OMIM:618620 |
| Maternal Uniparental Disomy Of Chromosome 6 |
|
Cleft upper lip, Hydrocele testis, Increased serum testosterone level, Cleft palate, Congenital a... |
ORPHA:96181 |
| Hengel-Maroofian-Schols Syndrome |
|
Bicuspid aortic valve, Tooth malposition, Everted lower lip vermilion, Short philtrum, Widely spa... |
OMIM:619641 |
| Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
| Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... |
ORPHA:2298 |
| Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart |
OMIM:241550 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Gingival overgrowth, Bicuspid aortic valve, Triangular mouth, Abnormality of the dentition, Long ... |
OMIM:618529 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Diabetic ketoacidosis, Elevated hemoglobin A1c, Type I diabetes mellit... |
OMIM:618858 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Beta-cell dysfunction, Diabetes mellitus |
OMIM:612227 |
| Baraitser-Winter Syndrome 1 |
|
Cleft upper lip, Wide mouth, Bicuspid aortic valve, Aortic valve stenosis, Long philtrum, Oral cl... |
OMIM:243310 |
| Fish-Eye Disease |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased VLDL cholesterol concent... |
OMIM:136120 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Lipoatrophy, Aortic valve stenosis, Mitral regurgitation, Intracranial hemorrhage, Mitral valve c... |
ORPHA:363618 |
| Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... |
OMIM:248370 |
| Van Der Woude Syndrome 2 |
|
Cleft upper lip, Anodontia, Cleft palate |
OMIM:606713 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Hyperlipidemia, Hypoglycemia, Delayed puberty, Hypertrophic cardiomyopathy |
ORPHA:369 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Failure to thrive, Hyperinsulinemia |
OMIM:606528 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Asymptomatic hype... |
ORPHA:35878 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Macronodular... |
OMIM:219080 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Postprandial hyperglycemia, Failure to thrive, Hyperlipidemia, Ketotic hypoglycemia, Glycosuria |
ORPHA:2089 |
| Glycogen Storage Disease Ixa1 |
|
Hypoglycemia, Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Supraventricular a... |
ORPHA:280365 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Elevated hemoglobin A1c, Type I diabetes mellitus, Reduced C-peptide l... |
OMIM:606176 |
| Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Pulmonic stenosis, Arrhythmia, Mitral valve prola... |
ORPHA:228410 |
| Sudden Cardiac Failure, Infantile |
|
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy,... |
OMIM:617222 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Ab... |
ORPHA:284169 |
| Cantu Syndrome |
|
Thick upper lip vermilion, Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Gingi... |
OMIM:239850 |
| Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Wide mouth, Bicuspid aortic valve, Atrial septal defect, Diastema, Ventricular septal defect, Dow... |
ORPHA:329224 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy |
ORPHA:79087 |
| Type 1 Diabetes Mellitus |
|
Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Diabetes mellitus |
OMIM:222100 |
| Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Anemia, Atrial septal defect |
OMIM:617408 |
| Nephronophthisis 16 |
|
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Patent ductus arteriosus, Hyper... |
OMIM:615382 |
| Mandibulofacial Dysostosis With Alopecia |
|
Bicuspid aortic valve, Cleft palate, Everted lower lip vermilion, Glossoptosis, Dental crowding, ... |
OMIM:616367 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Aortic valve stenosis, Pulmonic stenosis, Infantile hypercalcemia, Weight loss |
OMIM:143880 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Type II diabetes mellitus, Renovascular hypertension, Aortic regurgitation... |
ORPHA:401923 |
| Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Inappropriately normal thyroid-stimulating hormone level, Hypercholesterolemia, Central hypothyro... |
OMIM:301033 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Aortic valve stenosis, Flexion contracture, Pulmonic stenosis, Lipodystrophy, Atrophic scars, Aty... |
ORPHA:75496 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular septal defect, Adrenal hyperplasia, Abnormal circulating renin, Ventricular hypertrop... |
ORPHA:369929 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale,... |
ORPHA:500159 |
| Coffin-Siris Syndrome 7 |
|
Wide mouth, Bicuspid aortic valve, Short philtrum, Microdontia, Ventricular septal defect, Downtu... |
OMIM:618027 |
| Stiff Skin Syndrome |
|
Bicuspid aortic valve |
OMIM:184900 |
| Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Aortic regurgitation, Aortic valve stenosis |
OMIM:252605 |
| Familial Multiple Lipomatosis |
|
Hyperlipidemia, Lipodystrophy, Increased adipose tissue, Insulin resistance, Abnormal tricuspid v... |
ORPHA:199276 |
| Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypophosphatemic rickets, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Abnormal circulating f... |
ORPHA:263455 |
| Pulmonic Stenosis And Deafness |
|
Pulmonic stenosis, Ventricular hypertrophy |
OMIM:178651 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol ... |
OMIM:615830 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Atrial septal defect |
OMIM:617744 |
| Singleton-Merten Syndrome 2 |
|
Aortic valve stenosis |
OMIM:616298 |
| Symptomatic Form Of Hemochromatosis Type 1 |
|
Increased circulating ferritin concentration, Testicular atrophy, Decreased serum testosterone co... |
ORPHA:465508 |
| Insulinomatosis And Diabetes Mellitus |
|
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... |
OMIM:147630 |
| Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Patent ductus arteriosus |
OMIM:300049 |
| Methanol Poisoning |
|
Permanent atrial fibrillation, Hyperlipidemia, Type II diabetes mellitus, Cerebral hemorrhage, In... |
ORPHA:31825 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... |
ORPHA:79644 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Everted lower lip vermilion, Pulmonic stenosis, Ventricular septal defect, ... |
OMIM:249670 |
| Peters Plus Syndrome |
|
Cleft upper lip, Abnormal cardiac septum morphology, Wide mouth, Anal atresia, Hypoplastic left h... |
ORPHA:709 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... |
OMIM:616033 |
| Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Abnormality of the thyroid gland, Hypothyroidism, Hyperurice... |
ORPHA:77296 |
| Necrotizing Enterocolitis |
|
Small for gestational age, Hypotension, Shock, Bradycardia, Hyponatremia, Abnormal glucose homeos... |
ORPHA:391673 |
| Williams-Beuren Syndrome (WBS) |
|
Aortic valve stenosis |
DECIPHER:3 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hypertension, Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Congenital Aortic Valve Stenosis |
|
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Abnormal T-wave,... |
ORPHA:3093 |
| Insulinoma |
|
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... |
ORPHA:97279 |
| Pericardial And Diaphragmatic Defect |
|
Mitral stenosis, Bicuspid aortic valve, Atrial septal defect, Intestinal malrotation, Partial dia... |
ORPHA:2847 |
| Congenital Analbuminemia |
|
Hyperlipidemia, Low pulse pressure, Hypoproteinemia, Small for gestational age, Increased alpha-g... |
ORPHA:86816 |
| Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Palpitations, Hypercholesterolemia |
ORPHA:488650 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Bicuspid aortic valve |
ORPHA:397951 |
| Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Cont... |
ORPHA:324410 |
| Galactokinase Deficiency |
|
Failure to thrive, Hyperinsulinemia, Small for gestational age, Hypergonadotropic hypogonadism, I... |
ORPHA:79237 |
| Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
High palate, Dental crowding, Pulmonic stenosis, Abnormality of the dentition, Mitral valve prola... |
ORPHA:2868 |
| Greig Cephalopolysyndactyly Syndrome |
|
Joint contracture of the hand, Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglyc... |
OMIM:175700 |
| Atrial Septal Defect 1 |
|
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... |
OMIM:108800 |
| Weill-Marchesani Syndrome |
|
Pulmonic stenosis, Mitral regurgitation, Ventricular septal defect, Aortic valve stenosis |
ORPHA:3449 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... |
ORPHA:71212 |
| 8P23.1 Duplication Syndrome |
|
Adrenal insufficiency, Pulmonic stenosis, Long philtrum, Tetralogy of Fallot, Ventricular septal ... |
ORPHA:251076 |
| Glycerol Kinase Deficiency |
|
Adrenal insufficiency, Small for gestational age, Hypoglycemia, Hypertriglyceridemia, Adrenocorti... |
OMIM:307030 |
| Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Atrial septal defect, Decreased response to growth hormone stimula... |
OMIM:220210 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Aortic valve stenosis, Mit... |
ORPHA:363705 |
| Donohue Syndrome |
|
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Pancr... |
OMIM:246200 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Ventri... |
OMIM:619343 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia, Aortic valve stenosis |
OMIM:261560 |
| Weill-Marchesani Syndrome 3 |
|
Pulmonic stenosis, Aortic valve stenosis |
OMIM:614819 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Aapoaiv Amyloidosis |
|
Cardiac amyloidosis, Hyperlipidemia, Left bundle branch block, Sinus bradycardia, Left ventricula... |
ORPHA:439232 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98855 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
| Hepatic Lipase Deficiency |
|
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Atrial septal defect, Cleft palate, Eosinophilic infiltration of the esoph... |
OMIM:610168 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Anal atresia, Bicuspid aortic valve |
OMIM:619318 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
| Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism |
OMIM:613677 |
| Seckel Syndrome 10 |
|
Glucose intolerance, Ventricular hypertrophy, Elevated hemoglobin A1c, Elevated circulating lutei... |
OMIM:617253 |
| Lymphoid Interstitial Pneumonia |
|
Cor pulmonale, Aortic valve stenosis |
OMIM:247610 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Wide mouth, Bicuspid aortic valve, Narrow mouth, Atrial septal defect, Everted lower lip vermilio... |
OMIM:619720 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... |
ORPHA:189439 |
| Fixed Subaortic Stenosis |
|
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... |
ORPHA:3092 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... |
OMIM:605814 |
| Disproportionate Short Stature With Ptosis And Valvular Heart Lesions |
|
Pulmonic stenosis, Abnormality of the dentition, High palate, Abnormal heart valve morphology |
OMIM:126190 |
| Retinitis Pigmentosa |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism, Atypical scarring of skin, Obesity |
ORPHA:791 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Obesity, Tachycardia, Hyperglycemia |
OMIM:619737 |
| Short Syndrome |
|
Glucose intolerance, Lipoatrophy, Inguinal hernia, Small for gestational age, Lipodystrophy, Insu... |
OMIM:269880 |
| Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98853 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
High palate, Bicuspid aortic valve |
OMIM:619825 |
| Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
| Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
| Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Ovarian cyst, Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, I... |
ORPHA:90793 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia |
OMIM:610582 |
| Koolen-De Vries Syndrome |
|
Abnormal cardiac septum morphology, Bicuspid aortic valve, Narrow palate, High, narrow palate, Cl... |
ORPHA:96169 |
| Emanuel Syndrome |
|
Atrial septal defect, Congenital diaphragmatic hernia, Inguinal hernia, Aortic valve stenosis, Pu... |
OMIM:609029 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Right atrial enlargement, Restrictive cardiomyopathy, Hypoplasia of the thymus, B lymphocytopenia... |
OMIM:619313 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Open mouth |
OMIM:617751 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hyperinsulinemia, Flexion contracture, Elevated circulating creatine kinase co... |
OMIM:613327 |
| Branchial Arch Syndrome, X-Linked |
|
Pulmonic stenosis, Cryptorchidism, High, narrow palate, High palate |
OMIM:301950 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Inguinal hernia, Membranous subvalvular aortic stenosis, Abnormal circ... |
ORPHA:3191 |
| Sneddon Syndrome |
|
Bicuspid aortic valve, Lymphopenia |
OMIM:182410 |
| Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyp... |
OMIM:619868 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... |
ORPHA:189427 |
| Glanzmann Thrombasthenia 2 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619267 |
| Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Increased serum testosterone lev... |
ORPHA:769 |
| Lethal Congenital Contracture Syndrome 10 |
|
High palate, Narrow palate, Hypoplasia of the thymus, Long philtrum, Ventricular septal defect, O... |
OMIM:617022 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... |
ORPHA:98863 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Obesity, Precocious puberty, Hypercholesterolemia |
ORPHA:254531 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase concentration, Arr... |
OMIM:255120 |
| Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| 3C Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Aortic valve stenosis, Inguinal hernia, A... |
ORPHA:7 |
| Scheie Syndrome |
|
Aortic regurgitation, Aortic valve stenosis |
OMIM:607016 |
| Mcdonough Syndrome |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Aortic valve stenosis |
OMIM:248950 |
| Isolated Anencephaly |
|
Adrenal hypoplasia, Cleft lip, Maternal diabetes, Thymus hyperplasia |
ORPHA:563609 |
| Laron Syndrome |
|
Abnormality of the endocrine system, Truncal obesity, Hypoglycemia, Delayed puberty, Hypercholest... |
ORPHA:633 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Cleft upper lip, Precocious puberty, Cleft palate, Dysplastic pulmonary valve, Bifid uvula |
OMIM:300958 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Aortic valve stenosis, Patent ductus arteriosus |
OMIM:220220 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Sudden cardiac death, Arrhythmia, Hypoglycemia, Transient hyperlipidemia, Hypertrophic cardiomyop... |
ORPHA:156 |
| Scedosporiosis |
|
Unusual skin infection, Opportunistic fungal infection, Unusual CNS infection, Osteomyelitis, Sin... |
ORPHA:449280 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Pulmonic stenosis, Thin v... |
OMIM:610759 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Patent ... |
ORPHA:1457 |
| Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Secundum atrial septal defect, Hypoglycem... |
OMIM:609069 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity |
ORPHA:3085 |
| Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Dextrotransposition of the great arteries, V... |
OMIM:618619 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial septal defect, Atrioventricular ... |
ORPHA:1120 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Bicuspid aortic valve, Atrial septal defect, Supernumerary nipple, Long philtrum, Ve... |
ORPHA:457279 |
| Atypical Werner Syndrome |
|
Telangiectasia of the skin, Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level... |
ORPHA:79474 |
| Alstrom Syndrome |
|
Hyperinsulinemia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogo... |
OMIM:203800 |
| Arterial Tortuosity Syndrome |
|
Telangiectases of the cheeks, Hiatus hernia, Congenital diaphragmatic hernia, Inguinal hernia, Fl... |
OMIM:208050 |
| Emanuel Syndrome |
|
Multiple joint contractures, Failure to thrive, Atrial septal defect, Congenital diaphragmatic he... |
ORPHA:96170 |
| Holzgreve Syndrome |
|
Cleft upper lip, Hypoplastic left heart, Cleft palate |
OMIM:236110 |
| Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
| Niemann-Pick Disease, Type B |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:607616 |
| Acitretin/Etretinate Embryopathy |
|
High palate, Median cleft palate, Atrioventricular canal defect, Hypoplasia of the thymus, Conotr... |
ORPHA:40366 |
| Melorheostosis, Isolated |
|
Increased bone mineral density, Hyperostosis |
OMIM:155950 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
| Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... |
ORPHA:231580 |
| Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
| Cholesteryl Ester Storage Disease |
|
Adrenal calcification, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
| Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Atrial septal defect, Decreased response to growth hormone stimul... |
OMIM:601808 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... |
OMIM:619326 |
| Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Odontoma, Myocarditis |
ORPHA:2724 |
| Cardiac Valvular Dysplasia 2 |
|
Pulmonic stenosis, Bicuspid aortic valve, Subvalvular aortic stenosis, Dysplastic aortic valve |
OMIM:620067 |
| Felty Syndrome |
|
Sinusitis, Sepsis, Recurrent urinary tract infections, Chronic otitis media, Lymphoma, Arthritis,... |
ORPHA:47612 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Obesity, Hyperinsulinemia |
OMIM:618406 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Duodenal atresia, Lymphopenia, Enterocolitis, Intestinal atresia, Leukocytosis, Intestinal malrot... |
OMIM:243150 |
| Dysbetalipoproteinemia |
|
Angina pectoris, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration... |
ORPHA:412 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Bicuspid aortic valve, Atrial septal defect, Hypoplastic left heart, Long philtrum |
OMIM:619721 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Angina pectoris, Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... |
OMIM:607941 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Abnormal cardiac septum morphology, Failure to thrive, Aortic valve stenosis, Inguinal hernia, Te... |
ORPHA:96147 |
| Koolen-De Vries Syndrome |
|
High palate, Cleft upper lip, Bicuspid aortic valve, Narrow palate, Atrial septal defect, Cleft p... |
OMIM:610443 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Hypertrophic cardiomyopathy, Tr... |
OMIM:615415 |
| Beta-Ketothiolase Deficiency |
|
Hyperammonemia, Hypotension, Hypoglycemia, Hyperuricemia, Hypertension, Weight loss, Hyperglycemia |
ORPHA:134 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
| Athrombia, Essential |
|
Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding time |
OMIM:209050 |
| Aortic Valve Disease 2 |
|
Bicuspid aortic valve |
OMIM:614823 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
High palate, Secundum atrial septal defect, Lymphopenia, Cleft palate, Splenomegaly, Pulmonic ste... |
OMIM:612541 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ... |
ORPHA:90791 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Glycosuria, Hyperglycemia, Small for gestational age |
OMIM:618857 |
| Lateral Meningocele Syndrome |
|
High palate, Bicuspid aortic valve, Long philtrum, Patent ductus arteriosus, Dental crowding, Cry... |
OMIM:130720 |
| Isotretinoin-Like Syndrome |
|
Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Aortic valve stenosis, Cleft palate... |
ORPHA:2306 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Cleft palate, Everted lower lip vermilion, Short philtrum, Ventricular sept... |
OMIM:616898 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Long philtrum, Ventri... |
ORPHA:477817 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Increased blood urea nitrogen, Orthostatic hypotension, Syncope, Hypoglycemia, ... |
ORPHA:230 |
| Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Hypertriglyceridemia, Hypercholesterolemia, Increased body weig... |
OMIM:182290 |
| Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
| Fanconi-Bickel Syndrome |
|
Postprandial hyperglycemia, Failure to thrive, Hypophosphatemia, Glycosuria, Impaired glucose tol... |
ORPHA:2088 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Dec... |
OMIM:608594 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Typ... |
OMIM:269700 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Adrenocortical adenoma, Episodic hypokalemia, Mildly elevated creatin... |
ORPHA:681 |
| Mend Syndrome |
|
Aortic valve stenosis |
OMIM:300960 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Abdominal obesity, Truncal obesity, Myocardial infarction, Hypercholesterolemia, Hypertension, Co... |
OMIM:615812 |
| Perlman Syndrome |
|
Femoral hernia, Hyperinsulinemia, Inguinal hernia |
ORPHA:2849 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Nodular goiter, Prema... |
ORPHA:371428 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
High palate, Bicuspid aortic valve, Atrial septal defect, Cleft palate, Atrioventricular canal de... |
ORPHA:453499 |
| Omenn Syndrome |
|
Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B lymphocytopenia... |
OMIM:603554 |
| Peripartum Cardiomyopathy |
|
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Hypertension, Left bundle ... |
ORPHA:563 |
| Loeys-Dietz Syndrome 4 |
|
High palate, Bicuspid aortic valve, High, narrow palate, Eosinophilic infiltration of the esophag... |
OMIM:614816 |
| Hypoplastic Left Heart Syndrome 2 |
|
Ventricular septal defect, Hypoplastic left heart, Aortic valve atresia, Mitral atresia |
OMIM:614435 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Joint contracture of the hand, Flexion contracture, Small for gestational age,... |
OMIM:214150 |
| Severe Combined Immunodeficiency, X-Linked |
|
Hypoplasia of the thymus, Impaired lymphocyte transformation with phytohemagglutinin, T lymphocyt... |
OMIM:300400 |
| Acquired Von Willebrand Syndrome |
|
Joint hemorrhage, Melena, Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Intracr... |
ORPHA:99147 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Failure to thrive, Hyperglycemia |
OMIM:220111 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Mucopolysaccharidosis, Type X |
|
Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve cusp, Dermatan sulfat... |
OMIM:619698 |
| Mpi-Cdg |
|
Failure to thrive, Hyperinsulinemic hypoglycemia, Hypothyroidism, Hypoalbuminemia, Portal hyperte... |
ORPHA:79319 |
| Frontometaphyseal Dysplasia 2 |
|
High palate, Bicuspid aortic valve, Cleft palate, Pulmonic stenosis, Short philtrum, Bifid uvula,... |
OMIM:617137 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Insulin resistance, Small for gestational age, Truncal obesity, Hypoglycemia, ... |
ORPHA:73272 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... |
OMIM:617241 |
| Monosomy 18Q |
|
Slender build, Failure to thrive, Absence of the pulmonary valve, Secundum atrial septal defect, ... |
ORPHA:1600 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time |
OMIM:615888 |
| Rheumatic Fever |
|
Abnormal mitral valve morphology, Sinusitis, Arrhythmia, Endocarditis, Myocarditis, Arthritis, Ab... |
ORPHA:3099 |
| Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hyperlipidemia, Multiple lipomas, Portal hypertension |
ORPHA:1414 |
| Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Vent... |
ORPHA:370 |
| Storm Syndrome |
|
Mitral stenosis, Aortic valve calcification, Aortic valve stenosis, Myxomatous mitral valve degen... |
OMIM:185069 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Precocious puberty, Small for gestational age, Maturity-onset diabetes of the young, Truncal obes... |
ORPHA:96184 |
| Craniosynostosis 1 |
|
Systolic heart murmur, Aortic valve stenosis |
OMIM:123100 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure |
OMIM:192600 |
| Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Premature pubarche |
OMIM:201810 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Glucose intolerance, Failure to thrive, Small for gestationa... |
OMIM:606721 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Increased circulating... |
ORPHA:90790 |
| Glanzmann Thrombasthenia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:273800 |
| Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Bilateral cryptorchidism |
OMIM:618156 |
| Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Failure to thrive, Hypoplastic tricuspid valve, Atrial septal defect, Congenital diaphragmatic he... |
OMIM:600001 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated circulating creatine kinase concentration, Decreased circulating ceruloplasmin concentra... |
OMIM:616828 |
| Bardet-Biedl Syndrome 9 |
|
Obesity, Truncal obesity, Hyperglycemia |
OMIM:615986 |
| Mucopolysaccharidosis, Type Ivb |
|
Grayish enamel, Aortic valve stenosis, Keratan sulfate excretion in urine, Inguinal hernia |
OMIM:253010 |
| Meckel Syndrome, Type 7 |
|
Atrial septal defect, Aortic valve stenosis, Inguinal hernia, Right ventricular hypertrophy, Situ... |
OMIM:267010 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Atrial septal defect, High, narrow palate, Dysplastic pulmonary valve, Long philtrum... |
OMIM:612863 |
| Nephrotic Syndrome, Type 14 |
|
Adrenal insufficiency, Hypoglycemia, Hypertriglyceridemia, Hypothyroidism, Hypoalbuminemia, Hypog... |
OMIM:617575 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Bicuspid aortic valve, Patent ductus arteriosus |
OMIM:132900 |
| Contractural Arachnodactyly, Congenital |
|
High palate, Bicuspid aortic valve, Atrial septal defect, Ventricular septal defect, Mitral valve... |
OMIM:121050 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Aortic valve stenosis, Atrial septal defect, Inguinal hernia, Camptodactyly |
ORPHA:459061 |
| Kleefstra Syndrome |
|
Bicuspid aortic valve, Supernumerary nipple, Macroglossia, Everted lower lip vermilion, Advanced ... |
ORPHA:261494 |
| Placental Insufficiency |
|
Insulin resistance, Abnormal heart morphology, Small for gestational age |
ORPHA:439167 |
| Bangstad Syndrome |
|
Hyperinsulinemia, Increased circulating cortisol level, Abnormality of the parathyroid gland, Hyp... |
ORPHA:1227 |
| Glycogen Storage Disease Ixc |
|
Hypoglycemia, Hypertriglyceridemia, Fasting hypoglycemia |
OMIM:613027 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
| Syndromic Diarrhea |
|
Bicuspid aortic valve, Colitis, Atrial septal defect, Gastritis, Lymphopenia, Splenomegaly, Hypop... |
ORPHA:84064 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Lower-limb joint contracture, Hypovolemia, Glycosuria, Neonatal insulin-depend... |
ORPHA:99885 |
| Estrogen Resistance |
|
Glucose intolerance, Hyperinsulinemia, Impaired glucose tolerance |
OMIM:615363 |
| Progeroid Short Stature With Pigmented Nevi |
|
Bicuspid aortic valve, Aortic valve stenosis, Small for gestational age, Lack of facial subcutane... |
OMIM:176690 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormal resp... |
ORPHA:95699 |
| Werner Syndrome |
|
Slender build, Telangiectasia of the skin, Type II diabetes mellitus, Lipoatrophy, Thyroid carcin... |
ORPHA:902 |
| Calcific Aortic Disease With Immunologic Abnormalities, Familial |
|
Aortic valve calcification, Aortic valve stenosis, Aortic regurgitation |
OMIM:114065 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... |
OMIM:265380 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Generalized lipodystrophy, Calcinosis, Delayed puberty, Insulin resistance |
ORPHA:90154 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
High palate, Bicuspid aortic valve, Dental crowding |
OMIM:617168 |
| Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Increased serum testosterone level, Decreased circulating aldosterone level, Elevated serum 11-de... |
OMIM:202010 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Hypoglycemia, Hypertriglyc... |
ORPHA:264580 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperlipidemia, Precocious puberty, Atrial septal defect, Mitral regurgitation, Arrhythmia, Hypot... |
ORPHA:254346 |
| Whipple Disease |
|
Cachexia, Myocarditis, Hypotension, Hypothyroidism, Myocardial infarction, Hyponatremia, Insulin ... |
ORPHA:3452 |
| Immune-Mediated Necrotizing Myopathy |
|
Neoplasm, Skin rash, Raynaud phenomenon, Palpitations, Myositis, Myocarditis, Congestive heart fa... |
ORPHA:206569 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit |
OMIM:119300 |
| Trisomy 17P |
|
Aortic valve stenosis, Patent ductus arteriosus, Hypoplastic left heart, Flexion contracture |
ORPHA:261290 |
| Isolated Sedoheptulokinase Deficiency |
|
Postprandial hyperglycemia, Inguinal hernia, Flexion contracture, Steatorrhea, Arthrogryposis mul... |
ORPHA:440713 |
| Rat-Bite Fever |
|
Oligoarthritis, Pancreatitis, Pustule, Skin rash, Maculopapular exanthema, Sepsis, Lymphadenitis,... |
ORPHA:31205 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Decreased circulating aldosterone level, Precocious puberty, Increased circulating cortisol level... |
ORPHA:786 |
| Bacterial Toxic-Shock Syndrome |
|
Sepsis, Myocarditis, Severe viral infection, Pneumonia, Septic arthritis, Osteomyelitis, Peritoni... |
ORPHA:36234 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hyperammonemia, Hypoketotic hyp... |
ORPHA:228308 |
| Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Bicuspid aortic valve, Atrial septal defect,... |
OMIM:608978 |
| Monosomy 13Q34 |
|
Pulmonic stenosis, Hematochezia, Common atrium, Insulin resistance, Infantile hypercalcemia, Obes... |
ORPHA:96168 |
| Doors Syndrome |
|
Double outlet right ventricle, High palate, Gingival overgrowth, Narrow palate, Macrodontia of pe... |
ORPHA:79500 |
| Gaisböck Syndrome |
|
Angina pectoris, Hypovolemia, Hyperproteinemia, Elevated diastolic blood pressure, Increased circ... |
ORPHA:90041 |
| Familial Chylomicronemia Syndrome |
|
Failure to thrive, Hyperlipidemia, Decreased body weight, Pulmonary embolism, Hypertriglyceridemi... |
ORPHA:444490 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine kinase concentra... |
OMIM:212138 |
| Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Abnormal mitral valve morphology, Pubertal developmental failure in females, Myo... |
ORPHA:740 |
| Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Aortic valve stenosis, Mitral valve prolapse, Gastrointestinal hemorrhage, Epis... |
OMIM:193400 |
| Gitelman Syndrome |
|
Graves disease, Type I diabetes mellitus, Primary hyperaldosteronism, Prolonged QT interval, Abno... |
ORPHA:358 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Cleft palate, Ventricular septal defect, Open mouth, Intestinal pseudo-obstruction, Abnormal hear... |
ORPHA:453504 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Ventricular septal defect, Cleft lip, Cleft palate, Adrenal gland agenesis |
OMIM:611812 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Cleft palate, Ventricular septal defect, Open mouth, Intestinal pseudo-obstruction, Abnormal hear... |
ORPHA:352665 |
| Antisynthetase Syndrome |
|
Telangiectasia of the skin, Neoplasm, Skin rash, Myositis, Myocarditis, Aortic regurgitation, Ker... |
ORPHA:81 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hypoketotic hypoglycemia, Eleva... |
ORPHA:157 |
| Gaucher Disease, Type I |
|
Aortic valve stenosis, Mitral regurgitation, Hypertension, Pulmonary arterial hypertension, Epist... |
OMIM:230800 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
| Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia, Diabetes mellitus, Obesity, Overweight, Hypertension |
ORPHA:69663 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Decreased circulating T4 concentr... |
ORPHA:90674 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Wide mouth, Bicuspid aortic valve, Aortic valve stenosis, Macroglossia |
OMIM:614501 |
| Adams-Oliver Syndrome 1 |
|
Cleft upper lip, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect, Hypoplastic ... |
OMIM:100300 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Postprandial hyperglycemia, Failure to thrive, Hyperinsuline... |
ORPHA:508 |
| Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Pulmonary insufficiency, Ventricular septal hypertrophy, Rig... |
OMIM:619322 |
| Diamond-Blackfan Anemia 6 |
|
Cleft upper lip, Increased mean corpuscular volume, Atrial septal defect, Cleft palate, Persisten... |
OMIM:612561 |
| Meacham Syndrome |
|
Anomalous pulmonary venous return, Atrial septal defect, Congenital diaphragmatic hernia, Aortic ... |
ORPHA:3097 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Abnormal circulating lipid concentration, Truncal obesity, Hypothyroidism, Dilat... |
OMIM:616541 |
| Short Syndrome |
|
Inguinal hernia, Lipodystrophy, Diabetes mellitus, Insulin resistance, Weight loss, Abnormal dent... |
ORPHA:3163 |
| Tyshchenko Syndrome |
|
High palate, Narrow palate, Atrial septal defect, High, narrow palate, Cleft palate, Supernumerar... |
OMIM:615102 |
| Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Failure to thrive, Increased LDL cholesterol concentration, Steatorrhea, A... |
OMIM:278000 |
| Nephrotic Syndrome, Type 11 |
|
Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
| Thyrotoxic Periodic Paralysis |
|
Postprandial hyperglycemia, Hypomagnesemia, Graves disease, Hyperthyroidism, Episodic hypokalemia... |
ORPHA:79102 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Pulmonary embolism, Hypertriglyceridemia, Hypoalbuminem... |
ORPHA:567548 |
| H Syndrome |
|
Camptodactyly, Lipodystrophy, Hypertriglyceridemia, Abnormal cardiovascular system physiology, He... |
ORPHA:168569 |
| Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft upper lip, Tooth agenesis, Narrow mouth, Cleft palate, Open bite, ... |
ORPHA:861 |
| Microtriplication 11Q24.1 |
|
Obesity, Hyperlipidemia |
ORPHA:289522 |
| Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Hypotension, Adrenal hypoplasia, Hypoglycemic seizures, Hyp... |
ORPHA:199296 |
| Hypogonadotropic Hypogonadism 5 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cleft lip, Cryptorchidism, Cleft palate |
OMIM:612370 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hypoplasia of the thymus, Cryptorchidism, Cleft palate, Abnormal heart morphology |
OMIM:214110 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
| Systemic Lupus Erythematosus, Susceptibility To, 6 |
|
Malar rash, Pericarditis, Arthritis |
OMIM:609939 |
| Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoparathyroidism, Narrow mouth, Hypoplastic left heart, Cleft pa... |
ORPHA:3426 |
| Platelet Disorder, Undefined |
|
Hematological neoplasm, Impaired platelet aggregation, Neuroblastoma, Prolonged bleeding time |
OMIM:173420 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ectopic anus, Hypoplastic left heart, Cleft palate, Ventricular septal defect, Non-midline cleft lip |
ORPHA:2476 |
| Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right atrial enlargement, Tricuspid regur... |
ORPHA:99095 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Left ventricular noncompaction, Interstitial cardiac fibrosis, Dilated car... |
OMIM:613426 |
| Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Delayed menarche, Decreased HDL cholestero... |
ORPHA:247585 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis |
OMIM:618398 |
| Scorpion Envenomation |
|
Bundle branch block, Hypokalemia, Premature ventricular contraction, ST segment depression, Incre... |
ORPHA:466677 |
| Late-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Elevated ser... |
ORPHA:556037 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Ketotic hypoglycemia, Increased body weight, Elevated circulating creatine kinase concentration, ... |
ORPHA:79240 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Aortic valve stenosis |
OMIM:617660 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Hypertriglyceridemia, Hypopituitarism, Hypoalbuminemia |
OMIM:619013 |
| Pericardial Effusion, Chronic |
|
Pericardial effusion, Constrictive pericarditis |
OMIM:260900 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Thin upper lip vermilion, Bicuspid aortic valve, Rectovaginal fistula, Anal stenosis |
OMIM:300707 |
| Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
| Serkal Syndrome |
|
Pulmonic stenosis, Malrotation of small bowel, Abnormality of the adrenal glands, Oral cleft, Ven... |
ORPHA:139466 |
| Van Der Woude Syndrome |
|
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... |
ORPHA:888 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:614224 |
| Multiple Endocrine Neoplasia Type 4 |
|
Pituitary growth hormone cell adenoma, Thymoma, Elevated circulating parathyroid hormone level, A... |
ORPHA:276152 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... |
ORPHA:247598 |
| 3-Methylglutaconic Aciduria, Type Iv |
|
Subvalvular aortic stenosis, Inguinal hernia, Biventricular hypertrophy |
OMIM:250951 |
| Laubry-Pezzi Syndrome |
|
Bicuspid aortic valve, Left ventricular hypertrophy, Ventricular septal defect, Patent ductus art... |
ORPHA:99094 |
| Triglyceride Deposit Cardiomyovasculopathy |
|
Angina pectoris, Hyperlipidemia, Palpitations, Elevated circulating creatine kinase concentration... |
ORPHA:565612 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Wide mouth, Dysplastic pulmonary valve, Ventricular septal defect, Unilateral cleft palate, Unila... |
OMIM:619103 |
| Familial Bicuspid Aortic Valve |
|
Aortic valve calcification, Bicuspid aortic valve, Aortic valve stenosis, Hypoplastic left heart,... |
ORPHA:402075 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Narrow mouth, Atrial septal defect, Cleft palate, Left ventricular hypertr... |
OMIM:245600 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Constrictive pericarditis |
OMIM:602248 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Bicuspid aortic valve, Aortic valve stenosis, Juvenile myelomonocytic leukemia, Long philtrum, De... |
OMIM:613563 |
| Adult-Onset Still Disease |
|
Skin rash, Myocarditis, Arthritis, Meningitis, Hepatitis, Recurrent pharyngitis, Pericarditis |
ORPHA:829 |
| Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Decreased circulating aldosterone level, Orthostatic hypotension, Elevated ser... |
ORPHA:556030 |
| Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Hyperlysinemia, Hypoglutaminemia, Hyperammonemia, Increased serum pyruvate, Hy... |
ORPHA:3008 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... |
OMIM:615558 |
| Distal Monosomy 15Q |
|
Mitral stenosis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Double outlet right v... |
ORPHA:1596 |
| Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
| Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect, Pyloric stenosis |
OMIM:614262 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Neuroblastoma, Acute monocytic leukemia, Lymphoma, Myelodysplasia, Impaired platelet aggregation,... |
OMIM:601399 |
| Anauxetic Dysplasia 1 |
|
Hip contracture, Aortic valve stenosis, Elbow flexion contracture |
OMIM:607095 |
| X Small Rings |
|
Mitral stenosis, Bicuspid aortic valve, Long philtrum, Ventricular septal defect, Thin upper lip ... |
ORPHA:96201 |
| Tako-Tsubo Cardiomyopathy |
|
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... |
ORPHA:66529 |
| Systemic Lupus Erythematosus |
|
Nephritis, Arthritis, Lupus nephritis, Malar rash, Pericarditis |
OMIM:152700 |
| Glycogen Storage Disease Ia |
|
Hyperlipidemia, Hypoglycemia, Delayed puberty, Hyperuricemia, Fasting hypoglycemia, Hypertension,... |
OMIM:232200 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Pulmonic stenosis, Thin vermilion border, Carious teeth, Deep philtrum, Abnormal palate morpholog... |
ORPHA:2701 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Failure to thrive, Flexion contracture of finger, Aortic valve stenosis, Small for gestational ag... |
ORPHA:464311 |
| Legionnaires Disease |
|
Pancreatitis, Sepsis, Arrhythmia, Endocarditis, Myocarditis, Hypotension, Hepatitis, Recurrent ph... |
ORPHA:549 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Small pituitary gland, Cleft palate |
OMIM:614880 |
| Aortic Arch Interruption |
|
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve atresia, Left ventricular hype... |
ORPHA:2299 |
| Weill-Marchesani Syndrome 2 |
|
Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Ventricular septal defect, Patent... |
OMIM:608328 |
| Systemic Capillary Leak Syndrome |
|
Multiple myeloma, Pancreatitis, Arrhythmia, Hypotension, Myocarditis, Pericarditis |
ORPHA:188 |
| Microphthalmia, Syndromic 11 |
|
Cleft upper lip, Agenesis of pineal gland, Cleft palate |
OMIM:614402 |
| Mixed Connective Tissue Disease |
|
Gastritis, Skin rash, Myositis, Myocarditis, Arthritis, Keratoconjunctivitis sicca, Meningitis, G... |
ORPHA:809 |
| Neurofibromatosis-Noonan Syndrome |
|
Pulmonic stenosis, Cryptorchidism, Hypertrophic cardiomyopathy, Abnormality of the lymphatic system |
ORPHA:638 |
| Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
ORPHA:361 |
| Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Cleft upper lip, Atrophic gastritis, Cleft palate, Stomach cancer |
OMIM:137215 |
| Yao Syndrome |
|
Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, Ventricul... |
OMIM:617321 |
| Nephrotic Syndrome, Type 1 |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Hypothyroidism, Hypoalbuminemia |
OMIM:256300 |
| Scrub Typhus |
|
Skin rash, Hypotension, Myocarditis, Anterior uveitis, Meningitis, Infectious encephalitis |
ORPHA:83317 |
| American Trypanosomiasis |
|
Skin rash, Arrhythmia, Myocarditis, Infectious encephalitis, Cardiomyopathy, Congestive heart fai... |
ORPHA:3386 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Flexion contracture, Hypertriglyceridemia, Lipodystrophy, Panniculitis |
OMIM:617591 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Pulmonic stenosis, Atrial septal defect, Bifid uvula, Submucous cleft hard palate |
OMIM:619239 |
| 7Q11.23 Microduplication Syndrome |
|
Aortic valve stenosis, Congenital diaphragmatic hernia, Inguinal hernia, Atrial septal defect, Ve... |
ORPHA:96121 |
| Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome |
|
Constrictive pericarditis, Arthritis |
OMIM:208250 |
| Bronchial Neuroendocrine Tumor |
|
Increased serum serotonin, Elevated circulating growth hormone concentration, Abnormal pulmonary ... |
ORPHA:97287 |
| Smith-Magenis Syndrome |
|
Precocious puberty, Hypothyroidism, Hypertriglyceridemia, Delayed puberty, Hypercholesterolemia, ... |
ORPHA:819 |
| Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
| Geleophysic Dysplasia 2 |
|
Mitral stenosis, Aortic valve stenosis, Tricuspid stenosis, Mitral regurgitation, Mitral valve pr... |
OMIM:614185 |
| Polymyositis |
|
Abnormal mitral valve morphology, Breast carcinoma, Arrhythmia, Vasculitis, Arthritis, Myocardial... |
ORPHA:732 |
| Galloway-Mowat Syndrome 7 |
|
Ventricular septal defect, Dilated cardiomyopathy, Hypercholesterolemia |
OMIM:618348 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Failure to thrive, Aortic valve stenosis, Small for gestational age,... |
ORPHA:464306 |
| Geleophysic Dysplasia 1 |
|
Mitral stenosis, Aortic valve stenosis, Joint contracture of the hand, Tricuspid stenosis, Campto... |
OMIM:231050 |
| Weill-Marchesani Syndrome 1 |
|
Aortic valve stenosis, Pulmonic stenosis, Mitral regurgitation, Ventricular septal defect, Patent... |
OMIM:277600 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... |
OMIM:267700 |
| Cushing Disease |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Lymphopenia, Leukocyt... |
ORPHA:96253 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
