Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Heparin Cofactor Ii Deficiency |
|
Post-angioplasty coronary artery restenosis |
OMIM:612356 |
Hypoalphalipoproteinemia, Primary, 1 |
|
Myocardial infarction, Premature coronary artery atherosclerosis |
OMIM:604091 |
Takayasu Arteritis |
|
Arteritis |
OMIM:207600 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Foam cells |
OMIM:269600 |
Moyamoya Disease 1 |
|
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level, Hypoglycemia, Elevated ci... |
OMIM:619048 |
Temporal Arteritis |
|
Retinal arteritis |
OMIM:187360 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash, Histiocytosis |
ORPHA:157997 |
Glycogen Storage Disease 0, Muscle |
|
Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu... |
OMIM:611556 |
Vasculitis, Lymphocytic, Nodular |
|
Nodular inflammatory vasculitis |
OMIM:192310 |
Juvenile Temporal Arteritis |
|
Allergic rhinitis, Eosinophilia, Leukocytosis, Vasculitis, Conjunctivitis, Cerebral ischemia |
ORPHA:26137 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hypoglycemia, Cardiomyopathy |
OMIM:609016 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated hepat... |
OMIM:619355 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia |
OMIM:619175 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... |
OMIM:540000 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postp... |
ORPHA:2089 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating enzyme concentration or activity, Fatty replacement of skeletal muscle, Elev... |
ORPHA:171706 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Elevated circulating alanine aminotransferase concentratio... |
OMIM:261680 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Proteinuria, Abnormality of the k... |
ORPHA:369 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Neutropenia-Monocytopenia-Deafness Syndrome |
|
Abnormal macrophage morphology, Abnormality of neutrophils |
ORPHA:2690 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Ele... |
OMIM:227810 |
Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Acute rhabdomyolysis, Cardiac arrest, Pre... |
OMIM:616878 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Dilatation of the cerebral artery, Atherosclerosis |
ORPHA:91135 |
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Elevated hepatic transaminase, Abnormal EKG, Prolonged QT interval, Ketonuria, Hypoglycemia, Acut... |
ORPHA:480864 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor... |
ORPHA:860 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Hyperlipidemi... |
OMIM:232400 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Ketonuria, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated ... |
OMIM:619167 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:615158 |
Peripartum Cardiomyopathy |
|
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... |
ORPHA:563 |
Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Acute pancreatitis, Hypertriglyceridemia, Diabetes mellitus, Elevated ci... |
OMIM:617253 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia |
OMIM:246650 |
Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Sitosterolemia 2 |
|
Premature coronary artery atherosclerosis |
OMIM:618666 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for ge... |
ORPHA:79644 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypertension, Myocardial infarction, Premature coronary artery atherosclerosis |
OMIM:608320 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:619386 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
Muscle Filaminopathy |
|
Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dysfunction, A... |
ORPHA:171445 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Ketonuria, Acute pancreatit... |
ORPHA:20 |
Endocardial Fibroelastosis |
|
Hypoplasia of penis, Hypoglycemia, Congestive heart failure, Endocardial fibroelastosis, Restrict... |
ORPHA:2022 |
3-Methylglutaconic Aciduria Type 4 |
|
Hypoglycemia, Cardiomyopathy, 3-Methylglutaconic aciduria, Decreased liver function, Failure to t... |
ORPHA:67048 |
Propionic Acidemia |
|
Hepatomegaly, Hypoglycemia, Cardiomyopathy, Organic aciduria, Propionyl-CoA carboxylase deficienc... |
ORPHA:35 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Normochromic anemia, Foam cells |
OMIM:245900 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
Odontomatosis-Aortae Esophagus Stenosis Syndrome |
|
Myocarditis, Atherosclerosis |
ORPHA:2724 |
Niemann-Pick Disease, Type B |
|
Foam cells with lamellar inclusion bodies, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly... |
OMIM:607616 |
Paget Disease Of Bone 6 |
|
Nephrocalcinosis, Elevated circulating alkaline phosphatase concentration, Left ventricular hyper... |
OMIM:616833 |
Congenital Disorder Of Glycosylation, Type It |
|
Cardiomegaly, Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotransferase co... |
OMIM:614921 |
Vexas Syndrome |
|
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... |
OMIM:301054 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Cerebral hemorrhage, Myocardial infarction, Congestive heart failure, Hypothyroi... |
ORPHA:90065 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Premature coronary artery atherosclerosis |
OMIM:618463 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glomerulopathy, Renal insufficiency, Ketonuria, Hypoglycemia, Pulmonary embolism, Hemolytic-uremi... |
ORPHA:79282 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia |
ORPHA:67046 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Microvesicular hepatic steato... |
OMIM:611126 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contr... |
ORPHA:206546 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Increased m... |
OMIM:610717 |
Cardiomyopathy, Familial Restrictive, 1 |
|
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... |
OMIM:115210 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Ketonuria, Small for gestational age, Glycosuria, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Glutaric Acidemia I |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Glutaric aciduria, Reduced peroxisomal glutaryl-CoA oxidas... |
OMIM:231670 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Ketonuria, Hypoglycemia, Hyperglycemia, Fai... |
OMIM:615453 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:616974 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ketotic hypoglycemia, Cardiomyopathy, Myopathy, Ethylmalonic aciduria, Increased level of methyls... |
ORPHA:26792 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:212140 |
Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
Tangier Disease |
|
Hepatomegaly, Hypertriglyceridemia, Myocardial infarction, Splenomegaly, Facial diplegia, Distal ... |
OMIM:205400 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Hypoglycemia, Acute hepatic steatosis, Elevated urinary 3-methylcrotonylglycine level,... |
OMIM:210200 |
Short Stature Due To Ghsr Deficiency |
|
Decreased serum insulin-like growth factor 1, Decreased body weight, Hypoglycemia, Delayed puberty |
ORPHA:314811 |
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Skeletal muscle atrophy, Ketonuria, Hypoglycemia, Hyperglycinuria, Organic aciduria, Propionyl-Co... |
OMIM:210210 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... |
OMIM:262400 |
Periventricular Nodular Heterotopia |
|
Aortic regurgitation, Abnormal heart valve morphology, Patent ductus arteriosus, Hernia, Aortic a... |
ORPHA:98892 |
Scorpion Envenomation |
|
Bundle branch block, Prominent U wave, Hyperglycemia, Ketonuria, Elevated circulating aspartate a... |
ORPHA:466677 |
Mt-Atp6-Related Mitochondrial Spastic Paraplegia |
|
Diabetes mellitus, Supraventricular arrhythmia, Cardiomyopathy, Leg muscle stiffness, Distal lowe... |
ORPHA:320360 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Decreased liver function, Hypertrophic... |
OMIM:246900 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypogl... |
ORPHA:276580 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Ketonuria, Bicuspid aortic valve, Hypospadias, Mitral atresia, Increased hepatoc... |
OMIM:220111 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Elevated hepatic transaminase, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic... |
ORPHA:42 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Myocardial sarcomeric disarray, Abnormal ST segment, Right atrial enlargement, Reduced left ventr... |
OMIM:612422 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hypoglycemia, Sudden cardia... |
ORPHA:156 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
OMIM:616516 |
Takayasu Arteritis |
|
Abnormal endocardium morphology, Hypertensive crisis, Abnormal heart valve morphology, Myocardial... |
ORPHA:3287 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the up... |
ORPHA:99885 |
Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Monocarboxylate Transporter 1 Deficiency |
|
Ketonuria, Ketotic hypoglycemia |
OMIM:616095 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria, Hypoglycemia, Jaundice, Lacticaciduria, Elevat... |
OMIM:615751 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormality of the upper urinary tract |
ORPHA:1705 |
Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... |
ORPHA:75566 |
Cardiomyopathy, Familial Hypertrophic, 25 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome |
OMIM:607487 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Hypoglycemia, Recurrent myoglobinuria, Cerebral hemorrhage, Elevated cir... |
OMIM:620300 |
His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Increased urine alpha-ketoglutarate concentration, Hepatomegaly, Elevated hepatic transaminase, A... |
ORPHA:2394 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Short Stature Due To Partial Ghr Deficiency |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Delayed puberty |
ORPHA:314802 |
Mahvash Disease |
|
Pancreatic alpha-cell hyperplasia, Recurrent pancreatitis, Type II diabetes mellitus, Palpitation... |
OMIM:619290 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Re... |
ORPHA:324575 |
Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Hypothyroidism, Pat... |
OMIM:601005 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Sy... |
ORPHA:276575 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Ketonuria, Renal hypoplasia |
OMIM:619053 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 9 |
|
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation |
OMIM:616500 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Skeletal muscle atrophy, Pericardial effusion, Elevated urine acetoacetic acid level, Cardiomyopa... |
OMIM:620089 |
Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement,... |
OMIM:614022 |
Immunodeficiency 97 With Autoinflammation |
|
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Foam cells, Elevated pro... |
OMIM:619802 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Hypoglycemia, Weight loss, Hypertension, Hypotension, Hyperglycemia |
ORPHA:134 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
Radiation Proctitis |
|
Abnormal vascular morphology, Abnormal gastrointestinal vascular morphology, Hematochezia, Rectal... |
ORPHA:70475 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Dicarboxylic aciduria, Ketotic hypoglycemia, Pulmonic stenosis |
ORPHA:79159 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Glomerulopathy, Hepatomegaly, Hypertriglyceridemia,... |
ORPHA:2348 |
Pparg-Related Familial Partial Lipodystrophy |
|
Maternal diabetes, Prominent veins on trunk, Hepatic steatosis, Loss of facial adipose tissue, He... |
ORPHA:79083 |
Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm |
ORPHA:261102 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizure... |
ORPHA:276556 |
Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Accelerated atherosclerosis, Elevated hemoglobin A1c, Myocardial infarction, Hypertension, Corona... |
OMIM:618620 |
Distal Myopathy With Posterior Leg And Anterior Hand Involvement |
|
Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Finger fl... |
ORPHA:63273 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Tricuspid regurgitation, Failure to thrive in infancy, Congestive heart failu... |
ORPHA:746 |
Noonan Syndrome 8 |
|
Failure to thrive, Ventricular septal defect, Large for gestational age, Patent ductus arteriosus... |
OMIM:615355 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contracture, Oligosacchariduri... |
ORPHA:365 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic aciduria, Hypo... |
OMIM:212138 |
Fish-Eye Disease |
|
Splenomegaly, Angina pectoris, Atherosclerosis |
ORPHA:79292 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricula... |
ORPHA:91387 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in... |
ORPHA:86812 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Prominent superficial veins, Hypertri... |
OMIM:608600 |
3-Methylcrotonyl-Coa Carboxylase Deficiency |
|
Organic aciduria, Hypoglycemia, Failure to thrive in infancy, Abnormal cerebral vascular morphology |
ORPHA:6 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... |
OMIM:615395 |
Aortic Aneurysm, Familial Thoracic 9 |
|
Atrial fibrillation, Thoracic aortic aneurysm, Mitral valve prolapse, Ascending aortic dissection... |
OMIM:616166 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly, Hypertrophic cardiomyopathy |
ORPHA:79281 |
Propionic Acidemia |
|
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Cerebellar hemorrhage, Hyp... |
OMIM:606054 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Flexion contracture, Elevated circulating creatinine concentration, Hy... |
OMIM:616733 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... |
OMIM:606528 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Dilated cardiomyopathy, Hepatic necrosis, Hypog... |
OMIM:231530 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Dicarboxylic acidu... |
ORPHA:99901 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Cardiomegaly, Increased muscle lipid content, Knee flexion contracture, Mac... |
OMIM:608836 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Rhabdomyolysis, Red-brown u... |
ORPHA:228305 |
Congenital Aortic Valve Stenosis |
|
Thoracic aortic aneurysm, Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... |
OMIM:600649 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
Myopathy, Myofibrillar, 3 |
|
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... |
OMIM:609200 |
Cardiomyopathy, Familial Hypertrophic, 21 |
|
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... |
OMIM:614676 |
Atrial Fibrillation, Familial, 6 |
|
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... |
OMIM:612201 |
Cardiomyopathy, Familial Hypertrophic, 3 |
|
Hypertrophic cardiomyopathy, Sudden cardiac death |
OMIM:115196 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia |
ORPHA:436182 |
D-2-Hydroxyglutaric Aciduria 2 |
|
D-2-hydroxyglutaric aciduria, Cardiomyopathy |
OMIM:613657 |
Isolated Succinate-Coq Reductase Deficiency |
|
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... |
ORPHA:3208 |
Mass Syndrome |
|
Aortic aneurysm, Ascending aortic dissection, Mitral valve prolapse |
OMIM:604308 |
Pituitary Hormone Deficiency, Combined, 4 |
|
Hypothyroidism, Hypoglycemia, Impaired growth-hormone response to insulin stimulation test, Adren... |
OMIM:262700 |
Cardiomyopathy, Familial Hypertrophic, 16 |
|
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... |
OMIM:613838 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Aapoaiv Amyloidosis |
|
Left bundle branch block, Sinus bradycardia, Elevated circulating creatinine concentration, Cardi... |
ORPHA:439232 |
Cardiomyopathy, Familial Hypertrophic, 20 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... |
OMIM:613876 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Renal s... |
ORPHA:320 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Aciduria, Elevated c... |
OMIM:617950 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Hypergonadotropic hypogonadism, Hypoglycemia, Elevated circulati... |
OMIM:617872 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency |
|
Hypoglycemia |
ORPHA:35701 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11 |
|
Small for gestational age, Hypoglycemia, Abnormal heart morphology |
ORPHA:231147 |
Hypertriglyceridemia, Transient Infantile |
|
Hypertriglyceridemia |
OMIM:614480 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hypoglycemia, Renal steatosis, Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Malonyl-Coa Decarboxylase Deficiency |
|
Hypoglycemia, Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Methylmaloni... |
OMIM:248360 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Hypoglycemia, Ankle flexion contracture, Rhabdomyolysis, Dilated cardiomyopathy, 3-Methylglutacon... |
OMIM:618120 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Gastrointestinal hemorrhage, Increased urinary glyce... |
ORPHA:247598 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Aminoacidur... |
OMIM:249270 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Hepatic steatosis, Patent... |
ORPHA:17 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Angina pe... |
ORPHA:565612 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Premature coronary artery atherosclerosis |
OMIM:620058 |
Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Congestiv... |
ORPHA:615 |
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone |
|
Hypoglycemia |
OMIM:223500 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Failure to th... |
OMIM:618228 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Increased body weight, Hepatic fibrosis... |
ORPHA:264580 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Listeriosis |
|
Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec... |
ORPHA:533 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Primary Erythromelalgia |
|
Leukemia, Vasculitis |
ORPHA:90026 |
Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Hypoglycemia, Abnormal localization of kidney, Prolonged neonatal ja... |
ORPHA:446 |
Cardiomyopathy, Familial Hypertrophic, 18 |
|
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... |
OMIM:613874 |
Dpm3-Cdg |
|
Elevated hepatic transaminase, Dilated cardiomyopathy, Stroke-like episode, Calf muscle hypertrop... |
ORPHA:263494 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Prolonged QT interval, Dicarboxylic aciduri... |
ORPHA:71212 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Scapular winging, Hypoglyce... |
ORPHA:26791 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
Fructose And Galactose Intolerance |
|
Hypoglycemia |
OMIM:229500 |
Cardiomyopathy, Familial Hypertrophic, 9 |
|
Hypertrophic cardiomyopathy |
OMIM:613765 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Uterine prolapse, Inguinal hernia, Arterial dissection, Camptodactyly of fi... |
ORPHA:284984 |
Ataxia, Deafness, And Cardiomyopathy |
|
Cardiomyopathy |
OMIM:208750 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Hepatomegaly, Ketonuria, Limb-girdle muscle weakness, Hypothyroidism, Rhabdomyolysis, Macroglossi... |
OMIM:251900 |
Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Elbow flexion contracture, Increased QRS voltage, Knee flexion contrac... |
OMIM:619040 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Coarctation Of Aorta |
|
Hypoplastic left heart, Coarctation of aorta |
OMIM:120000 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Methylmalonic ... |
OMIM:251000 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Facial hypotonia, Cardiomega... |
ORPHA:308552 |
Pituitary Gigantism |
|
Elevated circulating growth hormone concentration, Increased circulating insulin-like growth fact... |
ORPHA:99725 |
Glucocorticoid Deficiency 3 |
|
Recurrent hypoglycemia |
OMIM:609197 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur, Stroke, Bacterial endocar... |
ORPHA:1054 |
Fanconi-Bickel Syndrome |
|
Nephrocalcinosis, Fasting hypoglycemia, Nephropathy, Hepatomegaly, Elevated circulating aspartate... |
ORPHA:2088 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Accelerated atherosclerosis, Precocious atherosclerosis, Increased intraabdominal fat, Hepatic st... |
ORPHA:280365 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Transient ischemic attack, Myocardial infarction, Angina pector... |
OMIM:301500 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia |
ORPHA:71529 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Left ventricular systolic dysfunction, Facial palsy, Flexion contracture, Skeletal muscle hypertr... |
OMIM:613156 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... |
ORPHA:99106 |
Cardiomyopathy, Dilated, 1B |
|
Vascular dilatation, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial contra... |
OMIM:600884 |
Cardiomyopathy, Familial Hypertrophic, 28 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... |
OMIM:619402 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated hepatic transaminase, Small for gestational age, Hypoglycemia, Decreased liver function,... |
OMIM:615160 |
Cantu Syndrome |
|
Bicuspid aortic valve, Cardiomegaly, Pericardial effusion, Large for gestational age, Patent duct... |
OMIM:239850 |
Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... |
OMIM:608758 |
Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Failure to thrive in infancy,... |
ORPHA:477817 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Immunodeficiency 59 And Hypoglycemia |
|
Recurrent skin infections, Herpes simplex encephalitis, Decreased proportion of class-switched me... |
OMIM:233600 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... |
OMIM:614823 |
Panbronchiolitis, Diffuse |
|
Foam cells, Bronchiectasis |
OMIM:604809 |
Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hypoglycemia, Small for gestational age, Cardiomegaly, Pericardial effusion, Bradycardia, Hypertr... |
OMIM:614702 |
Apolipoprotein A-I Deficiency |
|
Angina pectoris, Atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:425 |
Combined Malonic And Methylmalonic Acidemia |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Hypoglycemia, Methylmalonic aciduria, Failu... |
ORPHA:289504 |
Combined Oxidative Phosphorylation Deficiency 44 |
|
Hypertrophic cardiomyopathy |
OMIM:618855 |
Lcat Deficiency |
|
Hemolytic anemia, Atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:650 |
Hutchinson-Gilford Progeria Syndrome |
|
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... |
OMIM:176670 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Right ventricular dilatation, Abnor... |
ORPHA:2041 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... |
OMIM:608099 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Abdominal aortic aneurys... |
OMIM:613795 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Abnormal circulating enzyme concentration or activity, Inguinal hernia, Widened atrophic scar, De... |
ORPHA:1900 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Micropenis, Hypothyroidism, Hepatic steatosis, Hepatomegaly, Portal hypertensio... |
OMIM:619487 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Pulmonary insufficiency, Inguinal hernia, Tricuspid regurgitation, Abnormal... |
ORPHA:230851 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... |
ORPHA:603 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Prominent superficial veins, Hypertriglyceridemia, Lipodystrophy, Precocious pubert... |
ORPHA:528 |
Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Neuraminidase Deficiency |
|
Hepatomegaly, Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Ske... |
OMIM:256550 |
Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Nephrotic syndrome, Ca... |
OMIM:617713 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Quadriceps muscle weakness, Ragged-red muscle fibers, Glucose intolerance, Abnormality of the liv... |
ORPHA:254892 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal ao... |
ORPHA:1166 |
Brucellosis |
|
Liver abscess, Knee osteoarthritis, Leukopenia, Infectious encephalitis, Leukocytosis, Epididymit... |
ORPHA:1304 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Cardiomyopathy, Hypertension, Abnormal aortic morphology, Arrhythmia |
ORPHA:3222 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypertrophic cardiomyopathy, Hypoglycemia |
OMIM:618241 |
Usher Syndrome, Type 1M |
|
Left ventricular hypertrophy |
OMIM:618632 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal cyst, Abnormal systemic arterial morphology, Decreased glomerular filtration rate, Elevated... |
ORPHA:730 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... |
OMIM:235200 |
Hsd10 Disease, Infantile Type |
|
Abnormal circulating enzyme concentration or activity, Hypoglycemia, Cardiomegaly, Hypertrophic c... |
ORPHA:391428 |
Methylmalonic Aciduria, Cbla Type |
|
Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmalonic aciduria, El... |
OMIM:251100 |
Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Hypergonadotropic hypogonadi... |
ORPHA:79237 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Cardiomyopathy |
OMIM:616483 |
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy |
OMIM:614458 |
Hsd10 Mitochondrial Disease |
|
Hypertrophic cardiomyopathy, Hypoglycemia |
OMIM:300438 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Hypoperistalsis,... |
OMIM:613834 |
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency |
|
Epistaxis, Atherosclerosis |
OMIM:610842 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Nonketotic hypoglycemia, Hepatomegaly, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, Su... |
OMIM:201475 |
Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Hepatomegaly, Organic aciduria, Hypoglycemia |
OMIM:614741 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Failure to thrive, Hypoglycemia |
OMIM:610090 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
D-Glyceric Aciduria |
|
Hypoglycemia, Patent ductus arteriosus, Reduced hepatic D-glycerate kinase activity, Aminoaciduri... |
OMIM:220120 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Type II... |
ORPHA:225 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Diabetes mellitus, Increased glucagon level, Cholelithiasis, Abnormal b... |
ORPHA:438274 |
Cln3 Disease |
|
Increased circulating androgen concentration, T-wave inversion, Bradycardia, Left ventricular hyp... |
ORPHA:228346 |
Complement Component 4A Deficiency |
|
Vasculitis, Glomerulonephritis |
OMIM:614380 |
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency |
|
Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Organic aciduria, Supraventricula... |
OMIM:255100 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Elevated circulating... |
ORPHA:913 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Bicuspid aortic valve, Ventricular septal defect, Left ventricular non... |
OMIM:618719 |
Developmental And Epileptic Encephalopathy 109 |
|
Left ventricular hypertrophy, Failure to thrive |
OMIM:620145 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Urinary incontinence, Pericardial effusion, Multiple muscular ventricular septal defects, Limb hy... |
OMIM:620070 |
Giant Cell Arteritis |
|
Renal insufficiency, Pericarditis, Diabetes insipidus, Epistaxis, Sudden cardiac death, Vasculiti... |
ORPHA:397 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Cardiomyopathy, Glucose intolerance,... |
OMIM:606069 |
Mehmo Syndrome |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, O... |
OMIM:300148 |
Arterial Tortuosity Syndrome |
|
Inguinal hernia, Femoral hernia, Telangiectasia of the skin, Myocardial infarction, Hiatus hernia... |
ORPHA:3342 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... |
OMIM:609015 |
Myopathy, Distal, 4 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... |
OMIM:614065 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Heart mu... |
OMIM:615418 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Pauci-Immune Glomerulonephritis |
|
Glomerulonephritis, Crescentic glomerulonephritis, Scleritis, Tubulointerstitial nephritis, Granu... |
ORPHA:93126 |
Noonan Syndrome 10 |
|
Mitral stenosis, Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Coar... |
OMIM:616564 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Large for gestational age, Aminoaciduria, Umbilical hernia, Failure to thrive |
OMIM:614520 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, Heart block, Hyperlipidem... |
ORPHA:228308 |
Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
Alg3-Cdg |
|
Abnormal circulating enzyme concentration or activity, Lipodystrophy, Abnormality of the endocrin... |
ORPHA:79321 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Isch... |
ORPHA:679 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Large for gestational age,... |
ORPHA:263455 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Lipoatrophy, Diabetes melli... |
ORPHA:51 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic root aneury... |
OMIM:619825 |
Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Achalasia,... |
ORPHA:324 |
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis |
OMIM:226100 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Transaldolase Deficiency |
|
Abnormality of the kidney, Coarctation of aorta, Biventricular hypertrophy, Hepatosplenomegaly, T... |
ORPHA:101028 |
Temtamy Syndrome |
|
Aortic aneurysm |
ORPHA:1777 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Hypoglycemia, Glycogen accumulation in muscle fiber lysosomes, Exercise-... |
OMIM:300559 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Decreased methionine synthase activity, Inguinal hernia, Patent ductus arteriosus, Methylmalonic ... |
OMIM:614857 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:245400 |
Methylmalonic Aciduria, Cblb Type |
|
Hepatomegaly, Ketonuria, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutase activity, Fai... |
OMIM:251110 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Arterial stenosis, Cerebral artery atherosclerosis, Hypertension, Coronary artery atherosclerosis... |
ORPHA:1192 |
Hsd10 Disease, Neonatal Type |
|
Abnormal circulating enzyme concentration or activity, Hypertrophic cardiomyopathy, Abnormal conc... |
ORPHA:391457 |
Atrial Standstill |
|
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... |
ORPHA:1344 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Increased circulating free fatty acid level, Large for gestational age, ... |
ORPHA:293964 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
Richards-Rundle Syndrome |
|
Distal amyotrophy, Ketonuria, Hypergonadotropic hypogonadism |
ORPHA:1399 |
Autism, Susceptibility To, 3 |
|
Ketonuria, Increased serum serotonin |
OMIM:608049 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Angina pectoris, Hypoglycemia, Cachexia,... |
ORPHA:109 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Glutaric Acidemia Type 3 |
|
Glutaric aciduria, Failure to thrive, Ketonuria |
ORPHA:35706 |
Wells Syndrome |
|
Vasculitis, Eosinophilia |
ORPHA:901 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Hyperlipidemia, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Re... |
ORPHA:157 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cel... |
ORPHA:276608 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Proteinuria, Ventricular septa... |
OMIM:613404 |
Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... |
OMIM:618654 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Aminoaciduria, Hepatic failure, Hypoglycemia |
ORPHA:664 |
Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia |
OMIM:618958 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Failure to th... |
ORPHA:5 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Failure to thrive, Ketonuria, Methylmalonic aciduria |
OMIM:251120 |
Monosomy 18Q |
|
Left-to-right shunt, Absence of the pulmonary valve, Slender build, Secundum atrial septal defect... |
ORPHA:1600 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
Congenital Contractural Arachnodactyly |
|
Camptodactyly of finger, Flexion contracture, Mitral valve prolapse, Congenital contracture, Arth... |
ORPHA:115 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Small for gestational age, Hypoglycemia, Diastasis recti, Decreased body weight, Neonatal hypogly... |
ORPHA:231140 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:613752 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia |
OMIM:614654 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... |
ORPHA:98912 |
Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
2P21 Microdeletion Syndrome |
|
Hypoglycemia, Nephrolithiasis, Cystinuria, Hypogonadism, Failure to thrive |
ORPHA:163693 |
Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... |
OMIM:616276 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Cardiomyopathy, Decreased circulating cortisol level, Hypoglycemia, Decreased liver function |
OMIM:618839 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Igg4-Related Aortitis |
|
Thoracic aortic aneurysm, Abnormal aortic arch morphology, Weight loss, Ascending tubular aorta a... |
ORPHA:449400 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Rhabdomyolysis, Ventricular t... |
ORPHA:159 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Hypertrophic cardiomyopathy, Decreased circulating cortisol level, Hypoglycemia, Decreased liver ... |
OMIM:618835 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Acute pancreatitis, Angina pectoris, Type IV atherosclerotic lesion,... |
ORPHA:412 |
Cap Myopathy |
|
Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy,... |
ORPHA:171881 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Diabetes melli... |
ORPHA:263297 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Leukopenia, Tubulointerstitial nephritis, ... |
ORPHA:289390 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Proteinuria, H... |
OMIM:616026 |
Diabetes And Deafness, Maternally Inherited |
|
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Recurrent hypoglycemia, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Lipoatrophy, Congestiv... |
ORPHA:363618 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Exercise-induced rhabdomyolysis, Prolonged QT interv... |
ORPHA:26793 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Bi... |
OMIM:613027 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Congestive heart failure, Stroke-like epis... |
ORPHA:70472 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Coarctation of aorta, C... |
OMIM:619178 |
Arteriosclerosis, Severe Juvenile |
|
Myocardial infarction, Central retinal vessel vascular tortuosity, Calcification of the aorta, Ar... |
OMIM:208060 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Hypertriglyceridemia, Chronic a... |
OMIM:203800 |
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes |
|
Abnormal EKG, Diabetes mellitus, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, L... |
ORPHA:1177 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, 3-Methylglutaconic aciduria, Bile duct proliferation... |
OMIM:618329 |
Alport Syndrome |
|
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi... |
ORPHA:63 |
Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Minimal change glomerulonephritis, Thrombocytopenia, Congestive heart ... |
ORPHA:1830 |
Gm1-Gangliosidosis, Type Iii |
|
Foam cells |
OMIM:230650 |
Fragile X Syndrome |
|
Ascending tubular aorta aneurysm, Mitral valve prolapse |
ORPHA:908 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Decreased muscle mass, Hypogonadotropic hypogonadism, Decreased... |
ORPHA:465508 |
Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Hypoglycemia, He... |
OMIM:232200 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Medium chain dicarbox... |
OMIM:201450 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... |
ORPHA:169186 |
Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... |
OMIM:613873 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Large for gestational... |
ORPHA:363705 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... |
OMIM:614096 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Hypospadias, Elevated circulating aspartate ... |
OMIM:610198 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hypertension, Coronary artery atherosclerosis, Pancreatitis |
ORPHA:79084 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Coronary artery calcification, Cardiomegaly, Myocardial infarction, Cong... |
OMIM:614473 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
Hemochromatosis, Neonatal |
|
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... |
OMIM:231100 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Ketonuria |
OMIM:245050 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79239 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Cardiomyopathy, Failure to thrive |
OMIM:619651 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Arrhythmia, Stroke, Precocious atherosclerosis |
ORPHA:230839 |
Transaldolase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Small for gestational age, Splenomegaly, Patent ductus a... |
OMIM:606003 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Renal agenesis, Renal hypoplasia/aplasia, Abnormal aortic morphology, ... |
ORPHA:2516 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri... |
OMIM:619657 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Buerger Disease |
|
Vasculitis |
ORPHA:36258 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Hyperinsulinemic hypoglycemia, Fasting hyperin... |
ORPHA:35878 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia |
OMIM:613877 |
Niemann-Pick Disease, Type C1 |
|
CNS foam cells, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Foam cells |
OMIM:257220 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Renal insufficiency, Elevated hepatic transaminase, Gastroin... |
OMIM:276700 |
Schnitzler Syndrome |
|
Skin rash, Splenomegaly, Leukocytosis, Vasculitis, Arthritis, Anemia |
ORPHA:37748 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Proteinuria, Acute pancreatiti... |
ORPHA:79086 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Congestive heart failure, Cardiomyopat... |
OMIM:613313 |
Lipodystrophy, Familial Partial, Type 2 |
|
Adipose tissue loss, Increased intraabdominal fat, Hyperglycemia, Hepatic steatosis, Hepatomegaly... |
OMIM:151660 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Coarct... |
OMIM:620210 |
Leigh Syndrome |
|
Abnormal circulating enzyme concentration or activity, Skeletal muscle atrophy, Multiple joint co... |
ORPHA:506 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis, Fasting hypoglycemia |
OMIM:222730 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... |
OMIM:251880 |
Fibromuscular Dysplasia, Arterial |
|
Aortic dissection, Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudic... |
OMIM:135580 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepati... |
OMIM:124000 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
OMIM:619566 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Temtamy Syndrome |
|
Aortic regurgitation, Aortic aneurysm |
OMIM:218340 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Coarctation of aorta |
OMIM:601612 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Acatalasemia |
|
Arteriosclerosis, Severe periodontitis, Microcytic anemia |
ORPHA:926 |
Niemann-Pick Disease, Type A |
|
Foam cells with lamellar inclusion bodies, Bone-marrow foam cells, Microcytic anemia, Splenomegal... |
OMIM:257200 |
Lateral Meningocele Syndrome |
|
Neurogenic bladder, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Decreased ... |
OMIM:130720 |
Alkaptonuria |
|
Mitral valve calcification, Coronary artery calcification, Aortic valve calcification, Elevated u... |
OMIM:203500 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Skeletal muscle atrophy, Secundum atrial septal defect, Elevated circulating alanine aminotransfe... |
OMIM:614300 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:280356 |
Congenital Disorder Of Glycosylation, Type Ik |
|
Hepatomegaly, Splenomegaly, Flexion contracture, Cardiomyopathy, Hypogonadism, Joint contracture |
OMIM:608540 |
Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract infections, D... |
ORPHA:361 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Cardiomyopathy, Hypothyroidism |
OMIM:619647 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Scimitar Syndrome |
|
Heart block, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, Hernia, Atrial septal defe... |
ORPHA:185 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Renal insufficiency, Fatal liver failure in infancy |
ORPHA:254857 |
Shashi-Pena Syndrome |
|
Dilation of Virchow-Robin spaces, Hypoglycemia, Unilateral renal agenesis, Patent ductus arterios... |
OMIM:617190 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... |
OMIM:615474 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Acute rhabdomyolysis, Hypogonadotropic hypogonadism, Camptodactyly of finger, Hypoglycemia |
ORPHA:48431 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Muscular dystrophy |
OMIM:613153 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Prolonged QT interval, Hypoplasia of penis, Microvesicular hepatic... |
ORPHA:66634 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... |
ORPHA:2248 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Cardiomyopathy, Distal amyotrophy |
OMIM:610100 |
Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, E... |
OMIM:300696 |
Tangier Disease |
|
Accelerated atherosclerosis, Hypertriglyceridemia, Carotid artery stenosis, Hepatosplenomegaly, F... |
ORPHA:31150 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Splenomegaly, Cardiomyopathy, Failure to thrive, Neonatal hypoglycemia |
OMIM:619046 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Coronary artery calcification, Cardiomegaly, Myocardial infarction, Carotid artery calcification,... |
OMIM:208000 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl... |
OMIM:261750 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Elevated circulating thyroid-stimulating hormone concentration, In... |
ORPHA:94086 |
Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Precocious atherosclerosis, Myocardial infarction, Abnormal internal carotid art... |
ORPHA:391665 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Generalized amyotrophy, 2-ethylhydracylic aciduria |
OMIM:610006 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Dilated cardiomyop... |
ORPHA:79230 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Obesity, Hypogonadism, Atrial s... |
OMIM:615981 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles |
OMIM:609500 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Cardiomegaly |
OMIM:618838 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Pr... |
OMIM:619127 |
Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... |
OMIM:619897 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Hypoglycemia, Patent ductus arteriosus, Nephrocalcinosis, Atrial septal defect, Joint contracture... |
OMIM:618005 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Increased level of hippuric acid in urine, Hypoglycemia, Glutaric aciduria, 3-Methy... |
OMIM:246450 |
Thrombotic Thrombocytopenic Purpura |
|
Renal insufficiency, Proteinuria, Myocardial infarction, Abnormal lactate dehydrogenase level, He... |
ORPHA:54057 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Hypospadias, Small for gestational age, Penoscrotal transposition, Patent ductus arteriosus, Smal... |
OMIM:619148 |
Chromosome 18Q Deletion Syndrome |
|
Inguinal hernia, Hypospadias, Absence of the pulmonary valve, Ventricular septal defect, Decrease... |
OMIM:601808 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperthyroidism, Diabetes mellitus, Mitral valve prolapse, Hypertension, Aortic root aneurysm, Hy... |
ORPHA:449291 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... |
ORPHA:392 |
Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Acne, Skin rash, Abnormal cerebral vascular morphology, Sudden cardi... |
ORPHA:758 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Patent ductus arteriosus, Pulmonary artery stenosis... |
ORPHA:251071 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Skeletal muscle atrophy, Hypoglycemia, Cardiomyopathy, Generalized amyotrophy, Limb hypertonia |
OMIM:617710 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Aminoaciduria, Galactosuria, Decreased beta-galactosidase a... |
OMIM:230350 |
Loeys-Dietz Syndrome 4 |
|
Inguinal hernia, Torticollis, Bicuspid aortic valve, Arterial tortuosity, Mitral valve prolapse, ... |
OMIM:614816 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Nephropathy, Arrhythmia, Abnor... |
ORPHA:85447 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Inguinal hernia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flex... |
OMIM:245600 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 9 |
|
Hypoglycemia |
OMIM:616111 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes insipidus, Insulin resistance,... |
OMIM:209900 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy, Obesity |
OMIM:620270 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Arteriosclerosis, Stroke, Vascular granular osmiophilic material deposition, Stroke-like episode |
ORPHA:199354 |
Distal Myotilinopathy |
|
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... |
ORPHA:98911 |
Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... |
OMIM:609008 |
X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Obesity, Hypomimic face |
ORPHA:93952 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the pan... |
ORPHA:1926 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Cardiomyopathy, Stroke, Failure to thrive, Pancr... |
ORPHA:79312 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Stroke-like episode, Card... |
OMIM:222300 |
Riboflavin Deficiency |
|
Dicarboxylic aciduria, Hypoglycemia |
OMIM:615026 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal insufficiency, Hypothyroidism, Renal cyst, Nephrocalcinosis,... |
ORPHA:445038 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... |
ORPHA:399086 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Coronary artery atherosclerosis, Renal artery stenosis, Cerebral artery atherosclerosis |
OMIM:209010 |
Proximal Myopathy With Extrapyramidal Signs |
|
Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Cardiomyopathy, ... |
ORPHA:401768 |
Rin2 Syndrome |
|
Umbilical hernia, Hypergonadotropic hypogonadism, Aortic aneurysm |
ORPHA:217335 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Acute infectious pneumonia, Foam cells, Tachycardia |
ORPHA:264675 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Glutaric aciduria, Jaundice, Generalized aminoaciduria, Renal cortica... |
OMIM:231680 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Hypoglycemia, Renal salt wasting, Adrenogenital syndrome, Hyper... |
OMIM:201910 |
Congenital Fibrinogen Deficiency |
|
Tachycardia, Splenic rupture, Left ventricular hypertrophy, Micropenis, Internal hemorrhage, Righ... |
ORPHA:335 |
Muscular Dystrophy, Cardiac Type |
|
Cardiomyopathy, Abnormal EKG, Muscular dystrophy, Carnosinuria |
OMIM:309930 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Neurogenic bladder, Skeletal muscle atrophy, Hypoglycemia, Elevated circulating asp... |
OMIM:608779 |
Mody |
|
Abnormality of the kidney, Large for gestational age, Overweight, Transient neonatal diabetes mel... |
ORPHA:552 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Left ventricular hypertrophy |
ORPHA:401866 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Proteinuria, Nodular regenerative hyperplasia of liver, Weakness of ... |
ORPHA:247691 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Facial palsy, Decreased response to growth hormone stimulation te... |
OMIM:606407 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level |
OMIM:615238 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Congestive heart failure, Dilated card... |
OMIM:602390 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Hypoglycemia, Mesangial hypercell... |
OMIM:617575 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Vasculitis, Lymphocytosis, Hemo... |
OMIM:308240 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Aortic root aneurysm, Mitral regurgitation, Abdominal obesity, Camptod... |
OMIM:301039 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
Acute Adrenal Insufficiency |
|
Renal insufficiency, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia,... |
ORPHA:95409 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... |
OMIM:601859 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Nephrocalcinosis, Aminoaciduria, Elevated gamma-glutamyltransferase level, ... |
OMIM:208085 |
Laron Syndrome |
|
Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed ... |
ORPHA:633 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Inguinal hernia, Camptodactyly of finger, Aplasia/H... |
ORPHA:2990 |
Boudin-Mortier Syndrome |
|
Aortic root aneurysm, Elevated alkaline phosphatase of bone origin, Mitral valve prolapse |
OMIM:619543 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... |
OMIM:306955 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Elbo... |
OMIM:121050 |
Igg4-Related Kidney Disease |
|
Pericarditis, Inflammatory abnormality of the skin, Eosinophilia, Lymphadenitis, Urinary bladder ... |
ORPHA:449395 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice |
ORPHA:858 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... |
OMIM:300845 |
Kabuki Syndrome 2 |
|
Horseshoe kidney, Coarctation of aorta, Pulmonic stenosis, Decreased body weight, Atrial septal d... |
OMIM:300867 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Accelerated atherosclerosis, Aortic atherosclerotic lesion, Coronary artery atherosclerosis, Hepa... |
ORPHA:209902 |
Distal Deletion 12Q |
|
Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the young, Ectopic ki... |
ORPHA:96149 |
Flynn-Aird Syndrome |
|
Atherosclerosis |
ORPHA:2047 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypertyrosinemia, Failure to thrive, Hypoglycemia, 4-hydroxyphenyl... |
OMIM:617156 |
Cutaneous Small Vessel Vasculitis |
|
Recurrent skin infections, Vasculitis, Skin rash |
ORPHA:889 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Hypospadias, Hypoglycemia, Small for gestational age, Patent ductus arteriosus, Micropenis, Failu... |
OMIM:607143 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hypoglycemia, Elevated circulating aspartate aminotransferase conce... |
OMIM:617093 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hypoglycemia, Pancreatic fibrosis, Hepa... |
OMIM:232220 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia, Patent ductus ar... |
ORPHA:1120 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... |
OMIM:255160 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Proximal renal tubular acidosis |
OMIM:266150 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular... |
OMIM:616501 |
Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Aortic regurgitation, Inguinal hernia, Carotid artery dissection, Congen... |
OMIM:208050 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Atrioventricu... |
ORPHA:371428 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... |
OMIM:609308 |
Stimmler Syndrome |
|
Type II diabetes mellitus, Aminoaciduria, Abnormal dental enamel morphology |
ORPHA:3199 |
Childhood-Onset Nemaline Myopathy |
|
Scapular winging, Flexion contracture, Increased muscle lipid content, Generalized limb muscle at... |
ORPHA:171439 |
Post-Traumatic Pituitary Deficiency |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypoglycemi... |
ORPHA:95619 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Ureteral duplication, Asplenia, Dextrotransposition of the great arte... |
OMIM:270100 |
Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypospadias, Abnormality of the thyroid gland, Coarctation of aorta, A... |
ORPHA:1923 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Congestive heart failure, Nephrotic syndrome, Failure t... |
OMIM:269920 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Recurrent hypoglycemia |
OMIM:618158 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Atrial septal defect, Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Decreased circulating cortisol level, Hypoglycemia, Renal salt wasting, Precocious puberty, Incre... |
OMIM:614736 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Hypersplenism, Jaun... |
OMIM:619902 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Prominent superficial veins, Small for gestational age, Renal hypoplasia, Recurrent hypoglycemia,... |
OMIM:616817 |
Histidinuria-Renal Tubular Defect Syndrome |
|
Impaired histidine renal tubular absorption, Histidinuria, Hypoglycemia |
ORPHA:2158 |
Perlman Syndrome |
|
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Congenital diaphragmatic hernia, Large for gesta... |
OMIM:267000 |
Sotos Syndrome |
|
Ventricular septal defect, Abnormality of the kidney, Muscular ventricular septal defect, Patent ... |
OMIM:117550 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Pulmonar... |
OMIM:619064 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Ragged-red muscle fibers, Generalized amyotrophy, Hy... |
OMIM:613561 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Hypospadias, Small for gestational age, Failure to thrive in infancy, Flexion contracture, Genera... |
OMIM:618891 |
Mirage Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Hypergonadotropic hypogonadism, Adrenal hypoplas... |
OMIM:617053 |
Cogan Syndrome |
|
Aortic regurgitation, Episcleritis, Keratitis, Leukocytosis, Vasculitis, Large vessel vasculitis,... |
ORPHA:1467 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis |
OMIM:615119 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Inguinal hernia, Cholangitis, S... |
OMIM:613610 |
Muscular Dystrophy, Becker Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Muscular dystrophy, Arrhythmia |
OMIM:300376 |
Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Right axis deviation, Urinary incontinence, Subarac... |
OMIM:232300 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Atrial septal defect, Patent foramen ovale, Ab... |
ORPHA:980 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Organic aciduria |
OMIM:617184 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... |
OMIM:608807 |
Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Jaundice, Vasculitis, Co... |
ORPHA:2331 |
Developmental And Epileptic Encephalopathy 35 |
|
Cardiomyopathy |
OMIM:616647 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Carcinoid tumor, Internal hemorrhage, A... |
ORPHA:805 |
Pyridoxine-Dependent Epilepsy |
|
Hypoglycemia |
ORPHA:3006 |
Epidermal Nevus Syndrome |
|
Rhabdomyosarcoma, Weakness of long finger extensor muscles, Polycystic kidney dysplasia, Lipoma, ... |
ORPHA:35125 |
Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
ORPHA:34587 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Hypertension, Increased circulating cortisol leve... |
OMIM:615962 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Lacticaciduria, Alaninuria, Decreased liver function, Bradycardia,... |
OMIM:616299 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type... |
ORPHA:171433 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Diabetes mellitus, Abnormality of the thyroid gland, Ragged-red muscle fibers, Limb muscle weakne... |
OMIM:609286 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Skeletal muscle steatosis, Renal tubular dysfunctio... |
ORPHA:436271 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Abnormal jug... |
ORPHA:1677 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Pineal cyst, Cholecystitis, Hepatic s... |
ORPHA:98908 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Inguinal hernia, Hypoglycemia, Venous insufficiency, Vascular dilata... |
ORPHA:565 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia |
ORPHA:364 |
Myopathy, Myofibrillar, 1 |
|
Facial palsy, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Bradycardia, Third degree atri... |
OMIM:601419 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Failur... |
OMIM:616198 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... |
OMIM:608594 |
Cerebral Creatine Deficiency Syndrome 3 |
|
Failure to thrive, Organic aciduria |
OMIM:612718 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Failure to thrive, Ventricular septal defect, Double outlet righ... |
ORPHA:3426 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... |
OMIM:301068 |
Niemann-Pick Disease, Type C2 |
|
CNS foam cells, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Foam cells |
OMIM:607625 |
Macs Syndrome |
|
Dilation of Virchow-Robin spaces, Hypergonadotropic hypogonadism, Urethral stenosis, Decreased bo... |
OMIM:613075 |
Mucopolysaccharidosis, Type X |
|
Aortic regurgitation, Thickened aortic valve cusp, Nephrolithiasis, Dermatan sulfate excretion in... |
OMIM:619698 |
Hyperzincemia With Functional Zinc Depletion |
|
Vasculitis, Skin rash |
OMIM:601979 |
Alg12-Cdg |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Decreased s... |
ORPHA:79324 |
Alg1-Cdg |
|
Renal insufficiency, Abnormality of the kidney, Abnormal heart morphology, Nephrotic syndrome, Ca... |
ORPHA:79327 |
Atrial Standstill 2 |
|
Atrial cardiomyopathy, Scarring, Absent P wave, Atrial standstill, Dilatation of the ventricular ... |
OMIM:615745 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Increased pineal volume, Enlarged ovaries, Ventricular septa... |
ORPHA:769 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Hepatocellular ... |
OMIM:256810 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, A... |
OMIM:620135 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... |
OMIM:612999 |
Mucolipidosis Type Ii |
|
Aortic regurgitation, Hip contracture, Inguinal hernia, Abnormal atrioventricular valve physiolog... |
ORPHA:576 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Failure to thrive, 3-Methylglutaconic aciduria, Hypoglycemia |
OMIM:614739 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather... |
ORPHA:280679 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Patent ductus arteriosus, Weight loss, Hernia, Atrial septal defect, Hypertrophic c... |
ORPHA:1842 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... |
OMIM:617336 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valv... |
OMIM:175050 |
Right Atrial Isomerism |
|
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ... |
OMIM:208530 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Recurrent urinary tract infections, Inguinal hernia, Ventricular septal def... |
ORPHA:261330 |
Donohue Syndrome |
|
Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, C... |
OMIM:246200 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Melas |
|
Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Nephropathy, Hypothyroidism, Abnormal m... |
ORPHA:550 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Widened atrophic scar, Hypertriglyceridemia, Diabetes mellitus, ... |
ORPHA:536532 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Prolonged QRS complex, Neonatal hypoglycemia, Cardiomegaly, Pericardial effusion, Congestive hear... |
OMIM:261740 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoglycemia, Small for gestational age, Intraventricular hemorrhage, Aminoaciduria, Failure to t... |
OMIM:619055 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Glucose intolerance, Hepatic fibros... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Glucose intolerance, Hepatic fibros... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Glucose intolerance, Hepatic fibros... |
ORPHA:99226 |
Turner Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Glucose intolerance, Hepatic fibros... |
ORPHA:881 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Diaphragmatic eventration, Spinal muscular atrophy, Secundum atrial septal defect, Congestive hea... |
OMIM:616866 |
Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98853 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Failure to thrive in infancy, Hemolytic-uremic syndrome, Campto... |
OMIM:611209 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopen... |
OMIM:603909 |
Refsum Disease, Classic |
|
Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive heart failure, Cardiomyopa... |
OMIM:266500 |
Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
Familial Isolated Restrictive Cardiomyopathy |
|
Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric... |
ORPHA:75249 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Increased hepatocellular lipid droplets, Renal tubu... |
OMIM:220110 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Holoprosencephaly |
|
Omphalocele, Hypoplasia of penis, Diabetes mellitus, Ventricular septal defect, Proteinuria, Abno... |
ORPHA:2162 |
Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Transient ischemic attack, Abnormal T cell morphology, Anemia, Arteriosclerosis, Hy... |
OMIM:242900 |
Aica-Ribosuria Due To Atic Deficiency |
|
Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Secundum atrial septal defect, Hy... |
OMIM:608688 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Hypoglycemia, Fa... |
OMIM:619418 |
Neonatal Severe Primary Hyperparathyroidism |
|
Hepatomegaly, Abnormality of the thyroid gland, Splenomegaly, Abnormal circulating calcium-phosph... |
ORPHA:417 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Failure to thrive, Hypoglycemia |
ORPHA:95428 |
Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Pulmonary arterial hypertension, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria, Cardiomy... |
OMIM:619003 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ... |
OMIM:618234 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Splenomegaly, Jaundice, Weight loss, Aminoaciduria |
ORPHA:79238 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Hypergonadotropic hypogon... |
OMIM:212065 |
Sarcosinemia |
|
Hypersarcosinuria, Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis |
ORPHA:3129 |
Bachmann-Bupp Syndrome |
|
Dilation of Virchow-Robin spaces, Hypoglycemia, Large for gestational age |
OMIM:619075 |
Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology, Ventricular septal defect, Abnormal tricuspid valve morphology |
ORPHA:3405 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Small for gestational age, Hypoglycemia |
ORPHA:231137 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypoglycemic seizures, Nephrocalcinosis, Hypothyroidism, Hepatic steatosis, Tubulointerstitial fi... |
ORPHA:79259 |
Sandhoff Disease |
|
Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Reduced beta-hexosaminidase activ... |
OMIM:268800 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Hepatic steatosis, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:614582 |
Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Myopathy, Hypertrophic cardiomyopathy, Flexion contracture, Failure to thrive |
OMIM:618237 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Hypospadias, Ventricular septal defect, Unilateral renal agenesis, Congenital di... |
ORPHA:96121 |
Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Splenomegaly, Congestive heart fa... |
OMIM:230500 |
Congenital Isolated Acth Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Hepatitis, Hypoglycemic seizures, Adren... |
ORPHA:199296 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Hypertension, Failure to thrive, Coarctation of aorta |
OMIM:616069 |
Dopamine Beta-Hydroxylase Deficiency |
|
Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated urinary dopamin... |
ORPHA:230 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Diabetes mellitus, Dorsocervical fat pad, Hypoglycemia, Small for gestational age, Delayed pubert... |
ORPHA:391408 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Hypoplastic left heart |
ORPHA:2001 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
Hypercholesterolemia, Familial, 1 |
|
Coronary artery atherosclerosis |
OMIM:143890 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Small for gestational age, Cardiomegaly, Hypertension, Pulmonary arterial hypertension, Vascular ... |
OMIM:613320 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Fatty replacement of skeletal muscle, Congestive heart failure, Cardiomyopathy, Elevated circulat... |
ORPHA:52430 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Ventral hernia, Inguinal hernia, Prominent superficial veins, Carotid artery stenosis, Mitral val... |
OMIM:618000 |
Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia |
OMIM:604367 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Dilated cardiomyopathy, Bradycardia, Failure to thri... |
OMIM:610768 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystroglycan, Muscular dy... |
OMIM:615352 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Small for gestational age, Cardiomegaly, Pericardial effus... |
ORPHA:555874 |
Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti... |
OMIM:253250 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... |
ORPHA:2298 |
Isolated Complex I Deficiency |
|
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Proximal tubulopathy, Hypertrophic cardiomyopathy,... |
ORPHA:2609 |
Tako-Tsubo Cardiomyopathy |
|
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... |
ORPHA:66529 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Gastroin... |
OMIM:229600 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Pulmonary artery atresia, Atrial septal defect, Diaphragmatic ev... |
OMIM:601186 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Cardiomyopathy, Limb-girdle muscle weakness, Diabetes mellitus, Myopathy |
ORPHA:1215 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3 |
|
Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria |
OMIM:614053 |
Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Skeletal muscle atrophy, Failure to thrive, Hypospa... |
OMIM:252010 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Hyp... |
OMIM:600001 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Renal insufficiency, Hypoplasia of penis, Femoral hernia, Inguinal hernia, ... |
ORPHA:96147 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ragged-red muscle fibers, Flexion contracture, Dilated cardiomyopathy, Left ventricular noncompac... |
OMIM:252011 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, J... |
OMIM:617049 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:618398 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Facial palsy, Flexion contracture, Abnormal left ventricular function, Macroglossia, Cardiomyopat... |
OMIM:613155 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Inguinal hernia, Congenital diaphragmatic hernia, Vascular tortuosity, Ascending tubular aorta an... |
OMIM:219100 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Facial pals... |
OMIM:619424 |
Amyloidosis, Finnish Type |
|
Cardiac amyloidosis, Nephrotic syndrome, Renal insufficiency, Cardiomyopathy |
OMIM:105120 |
Sitosterolemia 1 |
|
Reticulocytosis, Carotid artery stenosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthri... |
OMIM:210250 |
Atrial Standstill 1 |
|
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... |
OMIM:108770 |
Yuan-Harel-Lupski Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm, Double outlet right ventr... |
OMIM:616652 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Cardiomyopathy, Hypogonadotropic hypogonadism, Cirrhosis |
OMIM:604250 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:300842 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Skeletal muscle atrophy, Inguinal hernia, Bicuspid aortic valve, Dextrocardia, Cerebral hemorrhag... |
ORPHA:536545 |
Glycogen Storage Disease Iv |
|
Skeletal muscle atrophy, Failure to thrive, Portal hypertension, Hepatosplenomegaly, Cardiomyopat... |
OMIM:232500 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Failure to thrive, Aminoaciduria, Tetralogy of Fallot |
OMIM:250620 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology... |
OMIM:618494 |
Neonatal Marfan Syndrome |
|
Tricuspid regurgitation, Lipoatrophy, Small for gestational age, Abnormal cardiac ventricle morph... |
ORPHA:284979 |
Hypercholesterolemia, Familial, 2 |
|
Coronary artery atherosclerosis |
OMIM:144010 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:363400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Atrial septal defect, Ascending tubular aorta aneurysm, Flexion contracture, Ventricular septal d... |
OMIM:309520 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Hypoglycemia, Pancreatitis |
OMIM:620137 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Situs inversus totalis, As... |
OMIM:615415 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia, Coarctation of aorta, Ao... |
OMIM:617602 |
Glucocorticoid Deficiency 1 |
|
Decreased circulating cortisol level, Abnormal circulating renin, Increased circulating ACTH leve... |
OMIM:202200 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Inguinal hernia, Mitral valve prolapse, Minimal subcutaneous fat, Camptodactyly, Umbilical hernia... |
OMIM:182212 |
Osteogenesis Imperfecta, Type I |
|
Aortic aneurysm, Dentinogenesis imperfecta, Mitral valve prolapse |
OMIM:166200 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Hypothyroidism, Abnormal ... |
ORPHA:453499 |
Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Ventricular septal defect, Foot joint contracture, Mitral valve prolapse, Ascend... |
ORPHA:444072 |
Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Glutaric aciduria, Chronic kidney disease,... |
ORPHA:25 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Renal tubu... |
ORPHA:213 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... |
OMIM:617228 |
Orthostatic Hypotension 2 |
|
Orthostatic hypotension, Hypoglycemia, Decreased glomerular filtration rate |
OMIM:618182 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Endocardial fibrosis, Restrictive cardiomyopathy |
OMIM:607685 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Diabetes mellitus, Ragged-red muscle fibers, Primary adrenal insufficiency, R... |
OMIM:530000 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Atherosclerosis |
ORPHA:1979 |
Pituitary Hormone Deficiency, Combined, 2 |
|
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Neonata... |
OMIM:262600 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Increased urinary glycerol, Hypoglycemia |
OMIM:229700 |
Cholera |
|
Tachycardia, Abnormality of renal excretion, Hypoglycemia, Hypovolemic shock, Stroke, Hypotension... |
ORPHA:173 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes insipidus, Splenomegaly, Vasculitis, Cardio... |
OMIM:225750 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Hypoplastic right heart, Congestive heart f... |
OMIM:617403 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypospadias, Dilated cardiomyopathy, Flexion contracture, Micropenis, Bradycardia, Hypertrophic c... |
OMIM:618815 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Heart murmur, Neonatal hypoglycemia, Slender build, Pulmonic stenosis |
OMIM:617600 |
Noonan Syndrome 9 |
|
Hydroureter, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Atrioventricular block, Decreased cervical spine flexion due to contractures of posterior cervica... |
ORPHA:98863 |
Cholesteryl Ester Storage Disease |
|
Bone-marrow foam cells, Hepatic foam cells, Hypersplenism, Thrombocytopenia, Splenomegaly, Portal... |
OMIM:278000 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Atrial septal defect, Prominent superficial veins, Tricuspid... |
OMIM:612289 |
Galactosemia I |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating aspartate aminotransferase con... |
OMIM:230400 |
Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph... |
ORPHA:79330 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, ... |
ORPHA:199299 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Takotsubo cardiomyopathy, Increased circulating procalcitonin concentration |
ORPHA:363549 |
Hereditary Arterial And Articular Multiple Calcification Syndrome |
|
Coronary artery calcification, Arterial tortuosity, Abnormal vascular morphology, Arterial occlus... |
ORPHA:289601 |
Mosaic Trisomy 16 |
|
Ventricular septal defect, Hypospadias, Maternal diabetes, Small for gestational age, Patent duct... |
ORPHA:1708 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Hypertriglyceri... |
OMIM:269700 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Descending aortic dissection, Small thenar eminence, Ascending aortic dissectio... |
OMIM:620080 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
Pyridoxal Phosphate-Responsive Seizures |
|
Failure to thrive, Hypoglycemia |
ORPHA:79096 |
Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
Meacham Syndrome |
|
Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventration, Accesso... |
OMIM:608978 |
Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Long penis, Nephrolit... |
OMIM:135500 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Inguinal hernia, Cigarette-paper scars, Mitral valve prolapse, Aortic root aneurysm, Umbilical he... |
OMIM:130000 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased adipose tissue, Congestive heart failure, Ragged-red muscle fibers, Dilated cardiomyopa... |
ORPHA:1349 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy |
OMIM:618321 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Scapular winging, Lipoatrophy, Absence of subcutaneous fat, ... |
OMIM:616914 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction |
OMIM:606842 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... |
ORPHA:363958 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Hypospadias, Neonatal hypoglycemia, Renal salt wasting, Inc... |
ORPHA:90791 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Bicuspid aortic valve, Hypoglycemia, ... |
ORPHA:457279 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Werner Syndrome |
|
Telangiectasia of the skin, Myocardial infarction, Abnormal cerebral vascular morphology, Congest... |
ORPHA:902 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Renal insufficiency, Abnormal EKG, Proteinuria, Myocardial infarction, Congestive h... |
ORPHA:330001 |
Shigellosis |
|
Hypoglycemia, Failure to thrive in infancy, Hemolytic-uremic syndrome, Myocarditis, Peritonitis, ... |
ORPHA:810 |
Anti-Glomerular Basement Membrane Disease |
|
Arthritis, Vasculitis, Anemia |
ORPHA:375 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hyp... |
ORPHA:401923 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Cardiomyopathy, Familial Hypertrophic, 7 |
|
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... |
OMIM:613690 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:615440 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:79085 |
Gm1 Gangliosidosis |
|
Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Splenomegaly, Patent ductus ... |
ORPHA:354 |
Neutrophilic Dermatosis, Acute Febrile |
|
Dilated cardiomyopathy, Panniculitis, Cystic acne, Small vessel vasculitis, Acne inversa, Anemia |
OMIM:608068 |
Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy, Hernia |
ORPHA:93476 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Facial palsy, Myofibrillar myopathy, Knee flexion contracture, EMG: myopathic a... |
OMIM:612954 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... |
ORPHA:904 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Papillary thyroid carcinoma, Atrial septal defect, Vesicour... |
OMIM:118450 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Decreased muscle mass, Ventricular septal d... |
OMIM:615582 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia |
ORPHA:329249 |
Smith-Kingsmore Syndrome |
|
Umbilical hernia, Hypoglycemia, Diastasis recti, Large for gestational age |
OMIM:616638 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Adrenocorticotropic hormone deficiency,... |
OMIM:201400 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Renal agenesis, Hypogonadotropic hypogonadism, Anomalous origin of left cor... |
ORPHA:2326 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Small for ges... |
OMIM:180860 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Obesity, Cardiomegaly |
ORPHA:88643 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Hepatomegaly, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:618235 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Flexion contracture, Hepatomegaly, Renal hypoplasia, Cardiomyopathy, Uri... |
ORPHA:90324 |
15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Inguinal hernia, Unilateral renal agenesis, Congestive heart failure, Dilat... |
ORPHA:90348 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cerebral hemorrhage, Cardiomegaly, Hypertension, Acute kidney injury |
OMIM:618886 |
Tenorio Syndrome |
|
Hypoglycemia, Raynaud phenomenon, Macroglossia, Enuresis, Syncope, Hypoinsulinemia |
OMIM:616260 |
Meacham Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus t... |
ORPHA:3097 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Small for gestational age, Hypertrophic cardiomyopathy, Left ventricular noncompaction |
OMIM:615917 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy, Failure to thrive |
ORPHA:91130 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cardiomyopathy, M... |
ORPHA:254886 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypogonadism, Failu... |
ORPHA:73272 |
Teebi Hypertelorism Syndrome 1 |
|
Atrial septal defect, Omphalocele, Aortic root aneurysm, Ventricular septal defect |
OMIM:145420 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Elevated tissue non-specific alkaline phosphatase, Increased circula... |
ORPHA:785 |
Dent Disease 2 |
|
Increased circulating lactate dehydrogenase concentration, Elevated circulating aspartate aminotr... |
OMIM:300555 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Failure to thrive, Ventricular septal defect, Abnormal coronary art... |
ORPHA:3427 |
Sickle Cell Disease |
|
Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hema... |
OMIM:603903 |
Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... |
OMIM:605275 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Ins... |
ORPHA:508 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Hypospadias, Abnormality of the kidney, Abnormal pulmonary valve morphology, Campto... |
ORPHA:1194 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Arterial tortuosity, Descending thoracic aorta aneurysm, Patent ductus art... |
OMIM:609192 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Hypoglycemia, Spider hemangioma, Chronic pancreat... |
OMIM:232240 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Anteri... |
ORPHA:466791 |
Koolen-De Vries Syndrome |
|
Atrial septal defect, Recurrent urinary tract infections, Bicuspid aortic valve, Ventricular sept... |
OMIM:610443 |
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopathy, Weakness of facial... |
ORPHA:329336 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Thoracic aortic aneurysm, Patent ductus arteriosus, Peritonitis, Megacystis, Pyelonephrit... |
OMIM:619351 |
Vici Syndrome |
|
Failure to thrive, Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:242840 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Small for gestational age, Hypospadias, Hypoglycemia |
OMIM:618253 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Al Amyloidosis |
|
Abnormality of the liver, Hepatomegaly, Abnormal EKG, Abnormality of the kidney, Nephrotic syndro... |
ORPHA:85443 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Inguinal hernia, Portal hypertension, Si... |
OMIM:267010 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, Reduced circulating ... |
ORPHA:91355 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Neonatal hypoglycemia, Large... |
ORPHA:116 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia... |
OMIM:617022 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Vasculitis, Recurrent pneumonia, Decreased mean platelet volume, Hematochezia, Subconj... |
OMIM:617718 |
Malignant Migrating Focal Seizures Of Infancy |
|
Precocious puberty, Failure to thrive, Aortopulmonary collateral arteries |
ORPHA:293181 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Skin rash, Leukocytosis, Vasculitis, Increased proportion of CD4-positive T cells, ... |
OMIM:617099 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Aminoaciduria, Elevated he... |
OMIM:619991 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy |
OMIM:618236 |
Neurooculorenal Syndrome |
|
Hypoplasia of the bladder, Decreased circulating cortisol level, Ectopic posterior pituitary, Dex... |
OMIM:620305 |
Opitz Gbbb Syndrome |
|
Omphalocele, Atrial septal defect, Enlarged ovaries, Inguinal hernia, Hypospadias, Ventricular se... |
ORPHA:2745 |
Houge-Janssens Syndrome 1 |
|
Congenital muscular torticollis, Facial hypotonia, Hypoglycemia |
OMIM:616355 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... |
ORPHA:1345 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... |
OMIM:600987 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Failure to thrive, Portal h... |
ORPHA:367 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Elevat... |
OMIM:617478 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Vasculitis, Arthritis, Inflammation of t... |
ORPHA:324964 |
Loeys-Dietz Syndrome |
|
Camptodactyly of finger, Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Atypical ... |
ORPHA:60030 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus, Coarctation of aorta |
ORPHA:280195 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:217085 |
Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern... |
ORPHA:2255 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c... |
OMIM:265380 |
Secondary Short Bowel Syndrome |
|
Enterocolitis, Atherosclerosis |
ORPHA:95427 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Recurrent urinary tract infections, Inguinal hernia, Hypoglycemia,... |
OMIM:613658 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Renal insufficiency, Ventricular septal defect, Hypogonadotropic hypogonadi... |
OMIM:617159 |
Primary Hyperoxaluria Type 1 |
|
Stroke, Anemia, Atherosclerosis |
ORPHA:93598 |
Triose Phosphate-Isomerase Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
ORPHA:868 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Abnormal pericardium morphology, Tran... |
ORPHA:183 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... |
ORPHA:2126 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... |
ORPHA:358 |
Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Camptodactyly of finger, Facial palsy, Splenomegal... |
ORPHA:90340 |
Mitochondrial Complex I Deficiency, Nuclear Type 7 |
|
Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:618229 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Diabetes mellitus, Arrhythmia |
ORPHA:96 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... |
OMIM:609452 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Abnormal circulating enzyme concentration or activity, Inguinal hernia, Abnormal heart valve morp... |
ORPHA:217085 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Abnormal circulating enzyme concentration or activity, Congenital foot contractures, Bradycardia,... |
ORPHA:565624 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Type 1 muscle fiber atrop... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Type 1 muscle fiber atrop... |
ORPHA:352665 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Achalasia, Decreased response to growth hormone stimulation test, Fasting hypoglycemia |
ORPHA:436174 |
Muckle-Wells Syndrome |
|
Episcleritis, Skin rash, Splenomegaly, Vasculitis, Uveitis, Arthritis, Conjunctivitis, Recurrent ... |
ORPHA:575 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 23 |
|
Inguinal hernia, Hypoglycemia, Elbow contracture, Umbilical hernia, Nemaline bodies |
OMIM:620275 |
Marfan Syndrome |
|
Skeletal muscle atrophy, Mitral valve calcification, Inguinal hernia, Slender build, Cachexia, Co... |
ORPHA:558 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic aortic ... |
OMIM:617506 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Secundum atrial septal defe... |
OMIM:609069 |
Primary Hyperoxaluria |
|
Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Heart bl... |
ORPHA:416 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Persistent fetal circulation, Ventricular septal defect, Small for gestational age, Pericardial e... |
OMIM:618775 |
Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Abnormal circulating enzyme concentration or activity, Cardiomyopathy, Generalized amyotrophy, Ne... |
ORPHA:572798 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Aortic regurgitation, Torticollis, Failure to thrive, Bicuspid aor... |
OMIM:619475 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Increase... |
ORPHA:812 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Abnormal circulating enzyme concentration or activity, Inguinal hernia, Abnormal heart valve morp... |
ORPHA:217093 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Inguinal hernia, Hypospadias, Hypoglycemia, Small for gestational age, Microphallus, Hypothyroidism |
ORPHA:397590 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Hypoplastic aortic arch, Coarctation of aorta... |
ORPHA:2876 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Renal neoplasm, Torticollis, Multiple joint contractures, Thoracic aortic aneurysm, Mitral valve ... |
ORPHA:536467 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Bicuspid aortic valve, Hypoglycemia, Small for gestational age, Macroglossia, Umbilical hernia, A... |
OMIM:614501 |
Meester-Loeys Syndrome |
|
Aortic dissection, Mitral valve prolapse, Ascending tubular aorta aneurysm, Aortic root aneurysm,... |
OMIM:300989 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia |
OMIM:616277 |
Mitochondrial Complex I Deficiency, Nuclear Type 22 |
|
Hypertrophic cardiomyopathy |
OMIM:618243 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Hypothyroid... |
ORPHA:1606 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Aortopulmonary windo... |
OMIM:620025 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Patent ductus arteriosus, Flexion contracture, Congestiv... |
OMIM:617303 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Hepatoblastoma, Diastasis recti, Cardiomega... |
OMIM:130650 |
Developmental And Epileptic Encephalopathy 75 |
|
Cardiomyopathy, Decreased liver function, Prolonged neonatal jaundice |
OMIM:618437 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Tricuspid regurgitation, Dextrocardia, Coarctation of aorta, Micropenis, Atrioventricular canal d... |
OMIM:618929 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Cardiomyopathy, Decreased beta-galactosidase activity, Urinary glycosaminogly... |
ORPHA:79255 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontinence, Fatty ... |
ORPHA:329478 |
Silver-Russell Syndrome 2 |
|
Neonatal hypoglycemia |
OMIM:618905 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Cardiomegaly |
OMIM:613576 |
Sengers Syndrome |
|
Cardiac arrest, Sudden cardiac death, Myopathy, 3-Methylglutaconic aciduria, Pulmonary arterial h... |
OMIM:212350 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Bicuspid aortic valve, Ventricular septal ... |
ORPHA:261494 |
Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Hypospadias, Elbow contracture, Atrial septal defect, Umbilical hernia, Dilatation o... |
OMIM:304120 |
Pituitary Apoplexy |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:95613 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomy... |
OMIM:614922 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
Addison Disease |
|
Hypoparathyroidism, Decreased circulating cortisol level, Orthostatic hypotension, Hypoglycemia, ... |
ORPHA:85138 |
Cantú Syndrome |
|
Abnormal heart valve morphology, Cardiomegaly, Patent ductus arteriosus, Umbilical hernia, Hypert... |
ORPHA:1517 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy |
ORPHA:1369 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Pulmonic stenosis, Restrictive ca... |
OMIM:619433 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:98855 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Alkaptonuria |
|
Myocardial infarction, Coronary artery calcification, Osteoarthritis, Hypertension, Arthritis, Pr... |
ORPHA:56 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypospadias, Ventricular septal defect, Decreased response to growth hormone stimulation test, Co... |
ORPHA:444077 |
Maple Syrup Urine Disease |
|
Increased level of hippuric acid in urine, Pancreatitis, Hypoglycemia |
OMIM:248600 |
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation |
|
Chronic kidney disease, Renal tubular acidosis, Cardiomyopathy, 3-Methylglutaconic aciduria, Fail... |
ORPHA:324525 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Cardiomegaly, Stroke-like episode, Cardiomyopathy, Orthostatic hypotension ... |
OMIM:105210 |
Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... |
OMIM:612124 |
Marfan Syndrome |
|
Reduced subcutaneous adipose tissue, Aortic regurgitation, Decreased muscle mass, Aortic dissecti... |
OMIM:154700 |
Fucosidosis |
|
Hepatomegaly, Decreased muscle mass, Lipoatrophy, Cardiomegaly, Abnormality of the gallbladder, M... |
ORPHA:349 |
Sotos Syndrome |
|
Ureteral duplication, Flexion contracture, Atrial septal defect, Vesicoureteral reflux, Hypothyro... |
ORPHA:821 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Isolated Atp Synthase Deficiency |
|
Hepatomegaly, Dilated cardiomyopathy, Renal hypoplasia, 3-Methylglutaconic aciduria, Hypogonadism... |
ORPHA:254913 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st... |
OMIM:618164 |
Generalized Arterial Calcification Of Infancy |
|
Medial calcification of large arteries, Adrenal calcification, Cardiomegaly, Abnormal retinal art... |
ORPHA:51608 |
3-Methylglutaconic Aciduria, Type Viii |
|
Patent ductus arteriosus, Jaundice, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Brady... |
OMIM:617248 |
Hypoadrenocorticism, Familial |
|
Hypoglycemia, Adrenal hypoplasia, Adrenal insufficiency |
OMIM:240200 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Ventricular septal defect, Small for gestational age, Cardiomegaly, Flexion contract... |
OMIM:616897 |
Glucocorticoid Deficiency 2 |
|
Decreased circulating cortisol level, Increased circulating ACTH level, Recurrent hypoglycemia |
OMIM:607398 |
Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Bundle branch block, Congenital diaphragmatic hernia, ... |
ORPHA:373 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia |
OMIM:615381 |
Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Skeletal muscle atrophy, Tachycardia, Recurrent myoglobinuria, Glycogen accumulation ... |
ORPHA:368 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:435660 |
Complement Factor I Deficiency |
|
Recurrent skin infections, Glomerulonephritis, Vasculitis, Pyelonephritis, Recurrent sinusitis, R... |
OMIM:610984 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Lipodystrophy, Telangiectasia of the skin, Hypergonadotropic hypogonadism, Dilated cardiomyopathy... |
OMIM:212112 |
Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Hyperthyroidism, Hypospadias, Mitral stenosis, Ventricular septal defect, Ca... |
ORPHA:2008 |
X Small Rings |
|
Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Aortic root aneurysm, Mitral... |
ORPHA:96201 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia |
ORPHA:435651 |
Osteogenesis Imperfecta |
|
Abnormal endocardium morphology, Aortic regurgitation, Inguinal hernia, Small for gestational age... |
ORPHA:666 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Camptodactyly-Taurinuria Syndrome |
|
Camptodactyly of toe, Increased urinary taurine, Aminoaciduria, Camptodactyly of finger |
ORPHA:1325 |
Cerebral Visual Impairment |
|
Intracranial hemorrhage, Ischemic stroke, Neonatal hypoglycemia |
ORPHA:447788 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arte... |
ORPHA:2306 |
Boutonneuse Fever |
|
Skin rash, Maculopapular exanthema, Vasculitis, Leukopenia, Thrombocytopenia |
ORPHA:83313 |
Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... |
OMIM:310200 |
Congenital Tracheomalacia |
|
Failure to thrive, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial ano... |
ORPHA:95430 |
Gapo Syndrome |
|
Abnormal cerebral vascular morphology, Atherosclerosis |
ORPHA:2067 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Fryns Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Abnormal... |
ORPHA:2059 |
Microscopic Polyangiitis |
|
Episcleritis, Gastrointestinal hemorrhage, Increased inflammatory response, Sinusitis, Pericardit... |
ORPHA:727 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Hypertrophic cardiomyopath... |
OMIM:612938 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Duchenne Muscular Dystrophy |
|
Calf muscle hypertrophy, Cardiomyopathy, Flexion contracture, Skeletal muscle atrophy |
ORPHA:98896 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... |
ORPHA:289548 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Glycopeptiduria, Oligosacchariduri... |
OMIM:230000 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Aortic regurgitation, Glutaric aciduria, D-2-hydroxyglutaric aciduria, Cardiomyopathy |
OMIM:600721 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... |
OMIM:258450 |
Glutamate-Cysteine Ligase Deficiency |
|
Myopathy, Aminoaciduria, Jaundice, Hepatosplenomegaly |
ORPHA:33574 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Neonatal insulin-dependent diabetes mellitus, Cardiomega... |
ORPHA:96191 |
Basilicata-Akhtar Syndrome |
|
Precocious puberty, Neonatal hypoglycemia, Camptodactyly |
OMIM:301032 |
Costello Syndrome |
|
Renal insufficiency, Ventricular septal defect, Hypoglycemia, Rhabdomyosarcoma, Achilles tendon c... |
OMIM:218040 |
Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Renal agenesis, Hypergonadotropic hypogonadism, Patent ductus arterios... |
OMIM:300514 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Flexion contracture, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Methylgluta... |
OMIM:604273 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Hypoplasia of penis, Hypoglycemia, Failure to thrive, Adrenal hypopl... |
ORPHA:95496 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Failure to thrive |
OMIM:618378 |
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 |
Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Vasculitis, Hypotension, Pancreatitis |
ORPHA:70578 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Aminoaciduria, Generalized amyot... |
OMIM:609560 |
Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Chronic mucocutaneous candidiasis, Abnormal left ventricular function, Con... |
ORPHA:36913 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomegaly, Congestive heart failure, Cardiomyopathy, 3-Methylglutaconic aciduria, Limb muscle ... |
OMIM:619259 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Patent ductus arteriosus, Hypertrophy of the urinary bladder, Unilateral renal dyspl... |
ORPHA:280633 |
Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Hypospadias, Abnormal pul... |
ORPHA:500 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Abnormal heart morphology, Coarctation of aorta, Aortic root... |
ORPHA:42775 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly, Oligosacchariduria |
ORPHA:3137 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Decreased serum insulin-like growth factor 1, Bicuspid aortic valve... |
ORPHA:1596 |
Infantile Refsum Disease |
|
Hepatomegaly, Facial palsy, Cardiomyopathy, Arrhythmia, Failure to thrive |
ORPHA:772 |
Hydroxykynureninuria |
|
Aminoaciduria, Jaundice |
OMIM:236800 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Renal artery aneurysm, Portal hypertension, Raynaud ... |
OMIM:615688 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... |
ORPHA:505248 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Acute hepatic failure, Dicarboxylic aciduria, Eleva... |
OMIM:613070 |
Sweet Syndrome |
|
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... |
ORPHA:3243 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Limb hypertonia, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, My... |
ORPHA:892 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... |
ORPHA:98907 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Jaundice, Increased circ... |
ORPHA:90790 |
Gaisböck Syndrome |
|
Angina pectoris, Myocardial infarction, Splenomegaly, Increased mean corpuscular hemoglobin conce... |
ORPHA:90041 |
Larsen Syndrome |
|
Atrial septal defect, Ventricular septal defect, Aortic aneurysm |
OMIM:150250 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... |
ORPHA:119 |
3-Methylglutaconic Aciduria, Type Viib |
|
Congestive heart failure, Flexion contracture, 3-Methylglutaconic aciduria, Hepatic steatosis, Ne... |
OMIM:616271 |
Lowry-Maclean Syndrome |
|
Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Abnormality of the abdominal organ... |
ORPHA:2409 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
Lysosomal Acid Lipase Deficiency |
|
Bone-marrow foam cells, Precocious atherosclerosis, Hypersplenism, Vacuolated lymphocytes, Hypovo... |
ORPHA:275761 |
Naxos Disease |
|
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... |
ORPHA:34217 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Hepato... |
ORPHA:99931 |
Pseudotrisomy 13 Syndrome |
|
Omphalocele, Renal agenesis, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Complet... |
OMIM:264480 |
Hughes-Stovin Syndrome |
|
Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ... |
ORPHA:228116 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies |
OMIM:616549 |
Silver-Russell Syndrome |
|
Decreased muscle mass, Hypospadias, Failure to thrive in infancy, Cachexia, Precocious puberty, I... |
ORPHA:813 |
Pagod Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Renal hypoplasia/apla... |
ORPHA:991 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia |
ORPHA:66628 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Decreased response to growth hormone stimulation... |
OMIM:614114 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmo... |
OMIM:614008 |
Friedreich Ataxia |
|
Abnormal EKG, Diabetes mellitus, Congestive heart failure, Decreased pyruvate carboxylase activit... |
OMIM:229300 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Splenomegaly, Congestive he... |
OMIM:615895 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Inguinal hernia, Multiple joint contractures, Abnormal heart valve morphol... |
ORPHA:536471 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Precocious atherosclerosis, Pulmonary embolism, Perianal abscess, Hepatosplen... |
ORPHA:444490 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Hypergonadotropic hypogonadism, Ragged-red muscle fibers, N... |
OMIM:607426 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Abnormality of the kidney, Cerebral hemorrhage, Dif... |
ORPHA:464321 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy |
ORPHA:295 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased muscle mass, Hypospadias, Decreased response to growth hormone stimulation test, Small ... |
ORPHA:96182 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia |
ORPHA:179494 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Hypertrophic cardiomyopathy |
OMIM:618683 |
Cocaine Intoxication |
|
Prolonged QRS complex, Myocardial infarction, Tubulointerstitial nephritis, Hypovolemia, Ischemic... |
ORPHA:90068 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Hypoglycemia, Jaundice, Hepati... |
ORPHA:90062 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Large for gestational age, Patent ductus arteriosus, Hypercalciur... |
OMIM:615398 |
Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... |
OMIM:613243 |
Wiskott-Aldrich Syndrome |
|
Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Skeletal muscle atrophy, Cardiomegaly, Adipose tissue loss, Flexion contracture, Elevated circula... |
OMIM:256040 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, P... |
OMIM:131100 |
Polyarteritis Nodosa |
|
Pericarditis, Abnormality of the kidney, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hyperte... |
ORPHA:767 |
Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... |
OMIM:300855 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Renal insufficiency, Pancreatitis, Cardiomyopathy |
ORPHA:27 |
Gracile Syndrome |
|
Aminoaciduria, Cholestasis |
OMIM:603358 |
Encephalocraniocutaneous Lipomatosis |
|
Lipodystrophy, Coarctation of aorta, Multiple lipomas, Abnormal aortic morphology, Tricuspid valv... |
ORPHA:2396 |
Mosaic Trisomy 1 |
|
Omphalocele, Hepatic agenesis, Ventricular septal defect, Camptodactyly of finger, Congenital dia... |
ORPHA:1692 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Renal salt wasting, Premature adrena... |
ORPHA:90794 |
Oculodentodigital Dysplasia |
|
Neurogenic bladder, Ventricular septal defect, Abnormal dental enamel morphology, Camptodactyly o... |
ORPHA:2710 |
Orthostatic Hypotension 1 |
|
Orthostatic hypotension, Atrial fibrillation, Reduced circulating prolactin concentration, Noctur... |
OMIM:223360 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Central hypothyroidis... |
OMIM:616113 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Hypospadias, Diastasis recti, Neonatal hypoglycemia, Large for gestational age |
ORPHA:457485 |
Vascular Ehlers-Danlos Syndrome |
|
Internal hemorrhage, Peripheral arteriovenous fistula, Hypospadias, Cigarette-paper scars, Varico... |
ORPHA:286 |
Lipodystrophy, Familial Partial, Type 6 |
|
Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase co... |
OMIM:615980 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Precocious puberty, Patent ductus arteriosus, Hypercalc... |
ORPHA:369837 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Hypospadias, Patent ductus arteriosus, Cardiomyopathy, Abnormal cardiac septum morphology, Hernia |
OMIM:217980 |
Fanconi Anemia |
|
Abnormality of the liver, Atrial septal defect, Abnormality of the hypothalamus-pituitary axis, H... |
ORPHA:84 |
Lysinuric Protein Intolerance |
|
Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros... |
ORPHA:470 |
Gmppb-Related Limb-Girdle Muscular Dystrophy R19 |
|
Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavity, Cardiomyopathy, Di... |
ORPHA:363623 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Telangiectasia of the skin, Decreased response to growth hormone stimulation test, Hypoglycemia, ... |
OMIM:616007 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hepatomegaly, Telangiectasia of the skin, Telangiectasia, Generalized amyotrophy, Hypertrophic ca... |
ORPHA:79279 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
Postinfectious Vasculitis |
|
Cerebral vasculitis, Viral hepatitis, Membranoproliferative glomerulonephritis, Proteinuria, Glom... |
ORPHA:48435 |
Fg Syndrome Type 1 |
|
Inguinal hernia, Hypospadias, Progressive flexion contractures, Mitral valve prolapse, Coarctatio... |
ORPHA:93932 |
Immunodeficiency, Common Variable, 10 |
|
Central adrenal insufficiency, Abnormal response to ACTH stimulation test, Hypoglycemia, Decrease... |
OMIM:615577 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Flexion contracture, Mitral regurgitation, Camptodactyly, Restrictive cardiomyopathy, Patent fora... |
ORPHA:88630 |
Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morpholo... |
ORPHA:580 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Obesity, Abnormal aortic morpholog... |
ORPHA:1001 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Increased urinary glycerol, Hypertriglyceridemia, Hypoglycemia, Small ... |
OMIM:307030 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Hip contracture, Ventricular septal defect, Splenomegaly |
OMIM:616651 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer... |
OMIM:618913 |
Hurler Syndrome |
|
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Heparan sulfate excretion in urine, Splenome... |
OMIM:607014 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Failure to thrive |
ORPHA:2278 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Hypertrophic cardiomyopathy |
OMIM:612989 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Dysuria, Abno... |
ORPHA:3463 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
Gastrocutaneous Syndrome |
|
Coronary artery atherosclerosis |
ORPHA:2069 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Aortic dissection, Atypical scarring of skin, Varicose veins, Atrophic scars, Pulmonic stenosis, ... |
OMIM:618343 |
Wilson Disease |
|
Acute hepatic failure, Aminoaciduria, Hepatic steatosis, Hypoparathyroidism, Hepatomegaly, Elevat... |
OMIM:277900 |
Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Abnormal heart valve morphology, Diastasis recti, Heparan sulfate excretion in urin... |
OMIM:253220 |
Cyclic Vomiting Syndrome |
|
Cardiomyopathy |
OMIM:500007 |
Marburg Hemorrhagic Fever |
|
Elevated hepatic transaminase, Shock, Renal insufficiency, Pericarditis, Tachycardia, Hypoglycemi... |
ORPHA:99826 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abnormal EKG, Cardiomegaly, Right bund... |
ORPHA:268 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Renal cyst, Coar... |
OMIM:617260 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated hepatic transaminase, Cardiomyopathy, Abnormality of the liver, Muscular dystrophy, Hepa... |
ORPHA:88618 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Stage 5 chronic kidney disease, Lacticaciduria, Abnormal heart morphology, Palpitations, Hypertro... |
OMIM:618250 |
Immunodeficiency 23 |
|
Failure to thrive, Aortic root aneurysm, Membranoproliferative glomerulonephritis, Vasculitis in ... |
OMIM:615816 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Hepatitis, Cholelithiasis, Hypertrophi... |
ORPHA:848 |
Hereditary Orotic Aciduria |
|
Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Amin... |
ORPHA:30 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Myocarditis, Congestive heart failure, Cardiomyopathy, Arrhythmia, Ac... |
ORPHA:3386 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Abnormal renal morphology, Abnormal heart morphology, Coarctation of a... |
ORPHA:2209 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... |
ORPHA:300751 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disease, Coarctat... |
OMIM:617729 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Friedreich Ataxia |
|
Hand muscle atrophy, Cardiomyopathy, Diabetes mellitus, Urinary bladder sphincter dysfunction |
ORPHA:95 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Failure to thrive, Jaundice, Abnormal heart morpho... |
OMIM:214110 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Atrophic scars, Joint contracture, Aortic root aneurysm, Decreased body weight |
OMIM:615349 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Neurofibromatosis-Noonan Syndrome |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:638 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Adrenal hy... |
OMIM:214100 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Failure to thrive, Proteinuria, Elevated alkaline phosphatase of bone origin... |
ORPHA:411634 |
Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
OMIM:615279 |
Farber Disease |
|
CNS foam cells, Hepatosplenomegaly, Anemia, Arthritis, Cherry red spot of the macula, Thrombocyto... |
ORPHA:333 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Reactive hypoglyce... |
ORPHA:469 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Congenital diaphragmatic hernia, Patent ... |
OMIM:618454 |
Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
Toriello-Carey Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Abnormal cardiac septum morpholog... |
ORPHA:3338 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria, Failure to thrive |
OMIM:236795 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... |
OMIM:615605 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Charge Syndrome |
|
Aortic arch aneurysm, Hypogonadotropic hypogonadism, Facial palsy, Patent ductus arteriosus, Hors... |
ORPHA:138 |
Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Multicystic kidney dysplasia, Rhabdomyosarcoma, Coarctation of aorta, Abnor... |
ORPHA:1052 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Viral hepatitis, Splenomegaly, Vasculitis, Arthritis, Keratoconjunct... |
ORPHA:91138 |
Juvenile Dermatomyositis |
|
Calcinosis, Bundle branch block, Pericarditis, Myositis, Gastrointestinal hemorrhage, Angina pect... |
ORPHA:93672 |
Oculoectodermal Syndrome |
|
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Pineal cyst, Atrial se... |
OMIM:600268 |
Roifman Syndrome |
|
Hip contracture, Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Hepatosplenomegaly |
ORPHA:353298 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Bicuspid aortic valve, Muscular ventricular septal defect, Patent ductus ar... |
OMIM:612474 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Renal tubular dysfunction, Glucose intolerance, Cirrhosis, Glycosuria, Hypertrophic cardiomyopath... |
OMIM:616539 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Cachexia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive |
OMIM:612075 |
Esophageal Atresia |
|
Omphalocele, Ventricular septal defect, Renal agenesis, Maternal diabetes, Small for gestational ... |
ORPHA:1199 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Hepatomegaly, Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber ... |
OMIM:604377 |
Common Variable Immunodeficiency |
|
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Vasculitis, Bronchiectasi... |
ORPHA:1572 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Hypertrophic cardiomyopathy, Vaginal hernia |
ORPHA:3173 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph... |
ORPHA:370959 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Q Fever |
|
Pericarditis, Osteomyelitis, Maculopapular exanthema, Pneumonia, Abnormal vascular morphology, Sp... |
ORPHA:781 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Inguinal hernia, Congenital diaphragmatic hernia, Arterial tortuosity, Aortic root aneurysm, Gene... |
OMIM:614437 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Facial palsy, Coarctation of aorta |
ORPHA:2780 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a... |
ORPHA:47159 |
Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Inguinal hernia, Increased iduronate sulfatase level, Diastas... |
OMIM:252500 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Slender build, Cardiome... |
OMIM:300967 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Small for gestational age, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Nephrog... |
OMIM:620167 |
Congenital Enterovirus Infection |
|
Pericardial effusion, Myocarditis, Hepatitis, Cholestasis, Cardiomyopathy, Hypotension, Hepatic f... |
ORPHA:292 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Lower limb amyotrophy, Delayed puberty |
ORPHA:496790 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Facial palsy, Limb muscle weakness, Organic aciduria, Generalized amyotrophy |
OMIM:614707 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Foam cells |
ORPHA:747 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Lacticaciduria, Distal amyotrophy, Weakness of facial musculature, Failure t... |
OMIM:618811 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Muscular dystrophy |
OMIM:204730 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Absent pulmonary artery, Coarct... |
OMIM:600460 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Myositis, Fasciitis, Pericarditis, Skin rash, Orchitis, Splenomegaly, Leukocytosis, Vasculitis, P... |
ORPHA:32960 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... |
ORPHA:293978 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8... |
ORPHA:3261 |
Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy, Large for gestational age |
OMIM:617757 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Micropenis, Hypoglycemia, Torticollis |
OMIM:620224 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Inguinal hernia, Multiple joint contractures, Cardiomegaly, Low alkaline phosphatas... |
OMIM:618143 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Dilated cardiomyopathy |
OMIM:614299 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hypospadias, Small for gestational age, T... |
OMIM:615471 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Scarring alopecia of scalp, Flexion contracture, Hydronephrosis, Neonatal hypoglycemia |
ORPHA:35173 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Cardiomegaly, Congestive heart fa... |
ORPHA:14 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Failure to thrive, Lacticaciduria, Hyperglycin... |
OMIM:605711 |
Sapho Syndrome |
|
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Vasc... |
ORPHA:793 |
Renal Cysts And Diabetes Syndrome |
|
Renal cyst, Glucose intolerance, Pancreatic hypoplasia, Hypospadias, Abnormality of the kidney, A... |
OMIM:137920 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Precocious puberty, Obesity, Hepatosplenomegaly, Cholecystitis, Umbil... |
OMIM:301066 |
Refsum Disease |
|
Skeletal muscle atrophy, Renal insufficiency, Heart block, Splenomegaly, Cardiomyopathy |
ORPHA:773 |
Classical Ehlers-Danlos Syndrome |
|
Inguinal hernia, Arterial dissection, Orthostatic hypotension, Hiatus hernia, Incisional hernia, ... |
ORPHA:287 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:613327 |
Pyruvate Carboxylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Lacticaciduria, Hyperglycemia, Failure to thrive |
ORPHA:3008 |
Restrictive Dermopathy |
|
Ureteral duplication, Multiple joint contractures, Hypospadias, Dextrocardia, Camptodactyly of fi... |
ORPHA:1662 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... |
ORPHA:2842 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Pyruvate Dehydrogenase Phosphatase Deficiency |
|
Lacticaciduria |
ORPHA:79246 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Gastrointestinal hemorrhage, Peritonitis, Vasculitis, Arthritis, Recurrent aphthous stomatitis |
ORPHA:343 |
Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:2701 |
Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... |
OMIM:115195 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Skeletal muscle atrophy, Inguinal hernia, Tricuspid regurgitation, Patent ductus arteriosus, Aort... |
OMIM:614557 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Juncti... |
OMIM:309801 |
Orotic Aciduria |
|
Failure to thrive, Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal ... |
OMIM:258900 |
Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Failure to thrive, Multiple glomerular cysts, Cardiac conduction abnormality, Abnor... |
ORPHA:255210 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Eunuchoid habitus, Small hypothenar eminence, Hypoplasia of the musculature, Thenar muscle atroph... |
ORPHA:2463 |
Hurler Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Camptodactyly of finger, Angina pectoris, Splenome... |
ORPHA:93473 |
Rheumatoid Arthritis |
|
Vasculitis, Rheumatoid arthritis |
OMIM:180300 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Small for gestational age, Pancre... |
OMIM:557000 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Flexion contracture, Cardiomyopathy, Myopathy, Ethylmalonic aciduria, Weakness of facial musculat... |
OMIM:201470 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmune thrombocytopenia, Ray... |
ORPHA:1855 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Inguinal hernia |
OMIM:620326 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Decreased serum testosterone concentration, Tachycardia, Streak ovary, Hyp... |
ORPHA:1772 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Bilateral fetal pyelectasis, Increased ur... |
OMIM:606812 |
Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Inguinal hernia, Tricuspid regurgitation, Reduced leukocyte arylsulfatase B activit... |
OMIM:253200 |
Gabriele-De Vries Syndrome |
|
Facial hypotonia, Aortopulmonary collateral arteries, Distal arthrogryposis, Ureteropelvic juncti... |
OMIM:617557 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Renal agenesis, Hypospadias, Bicuspid aortic valve, Truncus arteriosus, Ven... |
ORPHA:508498 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Decreased body weight, Arthrogrypos... |
OMIM:608013 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Micropenis, Hypertrophic cardiomyopathy, Hypocholesterolemia |
OMIM:618810 |
Intermediate Uveitis |
|
Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis |
ORPHA:279914 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Precocious puberty, Hyperphosphaturia, Horseshoe kidney, Coarctation of aorta |
OMIM:163200 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ... |
ORPHA:1507 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Arteriosclerosis, Skin rash |
ORPHA:220295 |
Wiskott-Aldrich Syndrome |
|
Large vessel vasculitis, Iron deficiency anemia, Inflammation of the large intestine, Absent micr... |
OMIM:301000 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Hypertrophic cardiomyopathy, Abnormal renal tubule morphology |
OMIM:611719 |
Kaufman Oculocerebrofacial Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Hypocholesterolemia, Atrial septal defect, Failu... |
OMIM:244450 |
Cystinosis, Nephropathic |
|
Skeletal muscle atrophy, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria,... |
OMIM:219800 |
Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins... |
OMIM:619705 |
Noonan Syndrome 5 |
|
Large for gestational age, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... |
OMIM:611553 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Hematemesis, Vasculitis, Hypothyroidism, Hepati... |
OMIM:615846 |
Waldenström Macroglobulinemia |
|
Normocytic anemia, Gastrointestinal hemorrhage, Epistaxis, Abnormality of neutrophils, Splenomega... |
ORPHA:33226 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
Robinow Syndrome |
|
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Ventricular septal defe... |
ORPHA:97360 |
Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Aortic root aneurysm, Vesic... |
OMIM:616580 |
Smith-Lemli-Opitz Syndrome |
|
Renal cyst, Hypocholesterolemia, Atrial septal defect, Micropenis, Hepatic steatosis, Penoscrotal... |
OMIM:270400 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Atrial septal defect, Recurrent urinary tract infections, Hypospadias, Bicuspid aortic valve, Ven... |
ORPHA:353281 |
Hutchinson-Gilford Progeria Syndrome |
|
Aortic regurgitation, Transient ischemic attack, Mitral stenosis, Angina pectoris, Left ventricul... |
ORPHA:740 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Cong... |
ORPHA:2322 |
Deeah Syndrome |
|
Hepatomegaly, Anterior pituitary hypoplasia, Decreased heart rate variability, Decreased response... |
OMIM:619004 |
3P25.3 Microdeletion Syndrome |
|
Patent ductus arteriosus, Coronary artery atherosclerosis, Pulmonic stenosis |
ORPHA:435638 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Atrial septal defect, Hepatomegaly, Hypertrophic cardiomyopathy, Flexion contracture |
OMIM:619383 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Inguinal hernia, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Fl... |
ORPHA:581 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Hypospadias, Bicuspid aortic valve, Ventricular septal defect, Ecto... |
OMIM:607872 |
Vici Syndrome |
|
Renal tubular acidosis, Ureteral atresia, Cardiomyopathy |
ORPHA:1493 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... |
ORPHA:158687 |
Peroxisome Biogenesis Disorder 9B |
|
Cardiomyopathy |
OMIM:614879 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Lacticaciduria |
OMIM:619063 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Generalized limb muscle atrophy, Cardiomyopathy, Facial diplegia, Lower limb muscle weakness, Foo... |
ORPHA:521411 |
Beck-Fahrner Syndrome |
|
Facial hypotonia, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:615486 |
Hypermobile Ehlers-Danlos Syndrome |
|
Inguinal hernia, Venous insufficiency, Genital hernia, Cystocele, Aplasia/Hypoplasia of the abdom... |
ORPHA:285 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia |
OMIM:617591 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Skeletal muscle atrophy, Hypertrophic cardiomyopathy |
OMIM:616896 |
Mycophenolate Mofetil Embryopathy |
|
Coarctation of aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney |
ORPHA:268249 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Elevated urinary formiminoglutamic acid level |
OMIM:229100 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... |
OMIM:171400 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating aspartate aminotransferase concentration, Oroticaciduria, Elevated circulati... |
OMIM:311250 |
Cockayne Syndrome |
|
Splenomegaly, Retinal hemorrhage, Hypertension, Keratoconjunctivitis sicca, Retinal arteriolar co... |
ORPHA:191 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Increased connective tissue, Flexion contrac... |
ORPHA:258 |
Costello Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Failure to thrive in infancy, Mitra... |
ORPHA:3071 |
Leopard Syndrome 2 |
|
Hypertrophic cardiomyopathy |
OMIM:611554 |
Hec Syndrome |
|
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis |
ORPHA:2119 |
Noonan Syndrome 4 |
|
Ureteral duplication, Ventricular septal defect, Large for gestational age, Pulmonic stenosis, At... |
OMIM:610733 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Renal tubular acidosis, Decreased activity of NADPH oxidase, Organic aciduria, Failure to thrive,... |
ORPHA:431361 |
Granulomatosis With Polyangiitis |
|
Gastrointestinal hemorrhage, Increased inflammatory response, Pericarditis, Sinusitis, Recurrent ... |
ORPHA:900 |
Noonan Syndrome 7 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Large for gestational age |
OMIM:613706 |
Martsolf Syndrome 1 |
|
Inguinal hernia, Hypogonadotropic hypogonadism, Cardiac arrest, Congestive heart failure, Cardiom... |
OMIM:212720 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... |
OMIM:201750 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Distal amyotrophy, Lacticaciduria, Limb hypertonia |
OMIM:618247 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aortic regurgitation, Aminoaciduria, Proteinuria, Pulmonary hemorrhage |
OMIM:603585 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Hypoplasia of the bladder, Accessory spleen, Renal agenesis, Camptodactyly of finger... |
OMIM:249000 |
X-Linked Intellectual Disability, Armfield Type |
|
Inguinal hernia, Patent ductus arteriosus, Aminoaciduria, Abnormal cardiac septum morphology, Org... |
ORPHA:85276 |
Behçet Disease |
|
Myositis, Myocardial infarction, Pulmonary embolism, Infectious encephalitis, Acne, Retrobulbar o... |
ORPHA:117 |
Orofaciodigital Syndrome Vi |
|
Renal agenesis, Coarctation of aorta, Hypoplastic left heart, Failure to thrive, Renal dysplasia |
OMIM:277170 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Splenomegaly, Primary hyperparathyroidism,... |
OMIM:239200 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Skeletal muscle atrophy, Aminoaciduria, Cachexia, Methylmalonic aciduria |
ORPHA:1933 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Atrial septal defect, Ventricular septal defect, Shoulde... |
OMIM:274000 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
Lathosterolosis |
|
Foam cells with lamellar inclusion bodies, Increased mean platelet volume, Acanthocytosis, Schist... |
OMIM:607330 |
Johanson-Blizzard Syndrome |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Atrial septal defect, Micropenis, Hyp... |
OMIM:243800 |
Myhre Syndrome |
|
Ventricular septal defect, Small for gestational age, Pericardial effusion, Patent ductus arterio... |
OMIM:139210 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Renal agenesis, Hypospadias, Ventricular septal defect, Small for gestatio... |
ORPHA:124 |
H Syndrome |
|
Hypertriglyceridemia |
ORPHA:168569 |
Bohring-Opitz Syndrome |
|
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Annular pancreas, Congenital... |
ORPHA:97297 |
You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
Citrullinemia, Classic |
|
Hepatomegaly, Oroticaciduria, Stroke, Cirrhosis, Failure to thrive |
OMIM:215700 |
Ctcf-Related Neurodevelopmental Disorder |
|
Inguinal hernia, Small for gestational age, Phimosis, Patent ductus arteriosus, Coarctation of ao... |
ORPHA:363611 |
8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Inguinal hernia, Ectopic posterior pituitary, Ventricular septal def... |
ORPHA:508488 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Small for gestational age, Methylmalonic aciduria, Facial diplegia, Amin... |
OMIM:612073 |
Mucopolysaccharidosis Type 1 |
|
Inguinal hernia, Abnormal heart valve morphology, Splenomegaly, Congestive heart failure, Abnorma... |
ORPHA:579 |
Localized Scleroderma |
|
Fasciitis, Raynaud phenomenon, Vasculitis, Uveitis, Arthritis, Stroke, Esophagitis, Arrhythmia, H... |
ORPHA:90289 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Tetralogy of Fallot, Pat... |
OMIM:618748 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Renal ... |
OMIM:617913 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Aciduria, ... |
OMIM:203700 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
Agel Amyloidosis |
|
Proteinuria, Facial palsy, Stage 5 chronic kidney disease, Cardiomyopathy, Abnormal spleen morpho... |
ORPHA:85448 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Inguinal hernia, Hypospadias, Small for gestational age, Hypertension, 3-Methylglutaconic aciduri... |
OMIM:614052 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hypospadias, Splenomegaly, Hepatosplenomegaly, Weight loss, Hypertrophic cardiomyop... |
OMIM:613673 |
Noonan Syndrome 3 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral valve prolapse, Pulmonic stenosis, Tr... |
OMIM:609942 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
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Nephrocalcinosis, Cardiomyopathy, Aminoaciduria, Splenomegaly |
OMIM:616084 |
Familial Mediterranean Fever |
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Pericarditis, Skin rash, Myocardial infarction, Orchitis, Splenomegaly, Osteoarthritis, Vasculiti... |
ORPHA:342 |
Congenital Tracheal Stenosis |
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Ventricular septal defect, Abnormality of the kidney, Ascending aorta hypoplasia, Patent ductus a... |
ORPHA:141127 |
Non-Acquired Panhypopituitarism |
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Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... |
ORPHA:90695 |
17Q11 Microdeletion Syndrome |
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Telangiectasia of the skin, Rhabdomyosarcoma, Abnormal internal carotid artery morphology, Precoc... |
ORPHA:97685 |
Mullegama-Klein-Martinez Syndrome |
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Facial palsy, Congenital diaphragmatic hernia, Coarctation of aorta, Hypoplastic left heart, Apic... |
OMIM:301022 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
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Limb hypertonia, Tricuspid regurgitation, Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Sudden cardiac death, Pericardial effusion, Abnormal renal tubular resorption, Congestive heart f... |
ORPHA:73224 |
Jacobsen Syndrome |
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Multicystic kidney dysplasia, Inguinal hernia, Ventricular septal defect, Annular pancreas, Coarc... |
ORPHA:2308 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Torticollis, Cyst of the ductus choledochus, Patent ductus arteriosus, Coarctation of aorta, Unil... |
OMIM:619480 |
Coccidioidomycosis |
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Pericarditis, Osteomyelitis, Skin rash, Eosinophilia, Abscess, Pneumonia, Erythema nodosum, Abnor... |
ORPHA:228123 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Horseshoe kidney, Coarctation of aorta, Atr... |
OMIM:617088 |
Rubinstein-Taybi Syndrome 1 |
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Premature thelarche, Flexion contracture, Aortic isthmus hypoplasia, Hepatic hemangioma, Atrial s... |
OMIM:180849 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
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Aminoaciduria |
ORPHA:147 |
Noonan Syndrome 1 |
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Ventricular septal defect, Hypospadias, Failure to thrive in infancy, Patent ductus arteriosus, C... |
OMIM:163950 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Bicuspid aortic valve, Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Hypospa... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Bicuspid aortic valve, Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Hypospa... |
ORPHA:353277 |
Multiple Endocrine Neoplasia Type 2 |
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Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary vanillylmandel... |
ORPHA:653 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Congenital diaphragmatic hernia, Renal cyst, Hepatoblastoma, Atrial septal defect, Hepatomegaly, ... |
OMIM:312870 |
Diamond-Blackfan Anemia 1 |
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Ventricular septal defect, Tricuspid stenosis, Congestive heart failure, Renal hypoplasia, Coarct... |
OMIM:105650 |
Lysinuric Protein Intolerance |
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Hepatomegaly, Skeletal muscle atrophy, Failure to thrive, Splenomegaly, Stage 5 chronic kidney di... |
OMIM:222700 |
Cerebrotendinous Xanthomatosis |
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Precocious atherosclerosis, Premature coronary artery atherosclerosis |
ORPHA:909 |
Yunis-Varon Syndrome |
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Hypospadias, Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, ... |
ORPHA:3472 |
Neonatal Inflammatory Skin And Bowel Disease |
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Left ventricular hypertrophy |
ORPHA:294023 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... |
OMIM:300952 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
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Hypertrophic cardiomyopathy, Joint contracture |
OMIM:614462 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Hip contracture, Failure to thrive, Ventricular septal defect, Shoulder flexion contracture, Musc... |
OMIM:210710 |
Griscelli Syndrome Type 2 |
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Hyperlipidemia |
ORPHA:79477 |
Catel-Manzke Syndrome |
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Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta,... |
OMIM:616145 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
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Organic aciduria, Obesity |
OMIM:620191 |
Cartilage-Hair Hypoplasia |
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Hepatomegaly, Heart block, Abnormality of the pancreas, Aplasia/Hypoplasia of the abdominal wall ... |
ORPHA:175 |
Cholestasis-Lymphedema Syndrome |
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Hyperlipidemia |
ORPHA:1414 |
Argininosuccinic Aciduria |
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Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, A... |
OMIM:207900 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
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Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy |
OMIM:619121 |
Hermansky-Pudlak Syndrome 1 |
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Hematochezia, Cardiomyopathy, Renal insufficiency, Epistaxis |
OMIM:203300 |
Kikuchi-Fujimoto Disease |
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Skin rash, Pustule, Splenomegaly, Myocarditis, Vasculitis, Anemia, Leukopenia, Lymphocytosis, Vas... |
ORPHA:50918 |
Singleton-Merten Syndrome 1 |
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Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... |
OMIM:182250 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
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Aminoaciduria, Hypogonadism, Arrhythmia |
OMIM:273400 |
Castleman Disease |
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Renal insufficiency, Jaundice, Weight loss, Hematuria, Restrictive cardiomyopathy, Ureteral obstr... |
ORPHA:160 |
Niemann-Pick Disease Type C |
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Bone-marrow foam cells, Splenomegaly, Hepatosplenomegaly, Aspiration pneumonia, Foam cells |
ORPHA:646 |
Hereditary Spherocytosis |
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Hepatomegaly, Restrictive cardiomyopathy, Splenomegaly, Jaundice, Cholelithiasis |
ORPHA:822 |
Holoprosencephaly 1 |
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Hypoglycemia, Adrenal hypoplasia, Micropenis, Diabetes insipidus, Single ventricle |
OMIM:236100 |
Methionine Malabsorption Syndrome |
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Aminoaciduria |
OMIM:250900 |
Combined Oxidative Phosphorylation Deficiency 55 |
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Skeletal muscle atrophy, Stage 3 chronic kidney disease, Type 2 muscle fiber predominance, Enures... |
OMIM:619743 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... |
ORPHA:77293 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... |
ORPHA:95494 |
Oculopharyngodistal Myopathy 1 |
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Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, Weight... |
OMIM:164310 |
Alström Syndrome |
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Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali... |
ORPHA:64 |
Floating-Harbor Syndrome |
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Hypospadias, Renal agenesis, Small for gestational age, Precocious puberty, Dilatation of the ren... |
ORPHA:2044 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Decreased liver functi... |
ORPHA:415 |
Noonan Syndrome 14 |
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Aortic regurgitation, Scapular winging, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca... |
OMIM:619745 |
Camurati-Engelmann Disease |
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Hepatomegaly, Skeletal muscle atrophy, Facial palsy, Cachexia, Splenomegaly, Abnormal subcutaneou... |
ORPHA:1328 |
Immunodeficiency 87 And Autoimmunity |
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Hypokalemia, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration |
OMIM:619573 |
Dermotrichic Syndrome |
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Aminoaciduria |
ORPHA:99688 |
Immunoglobulin A Vasculitis |
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Episcleritis, Gastrointestinal hemorrhage, Skin rash, Pustule, Orchitis, Vasculitis, Arthritis, I... |
ORPHA:761 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatosple... |
OMIM:618278 |
Infantile Nephropathic Cystinosis |
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Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal tubulointerstitial morphology, Ren... |
ORPHA:411629 |
Trichothiodystrophy |
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Multiple joint contractures, Ventricular septal defect, Absence of subcutaneous fat, Cardiomyopat... |
ORPHA:33364 |
Acromegaly |
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Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... |
ORPHA:963 |
Pallister-Hall Syndrome |
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Adrenal hypoplasia, Ectopic kidney, Large for gestational age, Gonadotropin deficiency, Atrial se... |
ORPHA:672 |
Pmm2-Cdg |
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Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concentration, Intr... |
ORPHA:79318 |
Combined Deficiency Of Factor V And Factor Viii |
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Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Argininemia |
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Hepatomegaly, Micronodular cirrhosis, Cholestasis, Diaminoaciduria, Portal fibrosis, Oroticaciduria |
OMIM:207800 |
Mitochondrial Phosphate Carrier Deficiency |
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Hypertrophic cardiomyopathy |
OMIM:610773 |
Hermansky-Pudlak Syndrome |
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Gastrointestinal hemorrhage, Renal insufficiency, Abnormal dental enamel morphology, Epistaxis, W... |
ORPHA:79430 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Omphalocele, Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger... |
ORPHA:96334 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Organic aciduria, Limb hypertonia |
ORPHA:99742 |
Atypical Werner Syndrome |
|
Prominent superficial veins, Telangiectasia of the skin, Abnormal cerebral vascular morphology, C... |
ORPHA:79474 |
Floating-Harbor Syndrome |
|
Inguinal hernia, Hypospadias, Glandular hypospadias, Coarctation of aorta, Nephrocalcinosis, Cong... |
OMIM:136140 |
Biotinidase Deficiency |
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Splenomegaly, Hepatomegaly, Organic aciduria, Decreased circulating biotinidase concentration |
OMIM:253260 |
Leopard Syndrome 1 |
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Bundle branch block, Scapular winging, Hypospadias, Unilateral renal agenesis, Delayed menarche, ... |
OMIM:151100 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
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Facial hypotonia, Large for gestational age, Micropenis, Slender build, Neonatal hypoglycemia |
ORPHA:457359 |
Somatomammotropinoma |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... |
ORPHA:314769 |
Dermatomyositis |
|
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ... |
ORPHA:221 |
Renal Agenesis, Bilateral |
|
Nonketotic hypoglycemia, Renal agenesis |
ORPHA:1848 |
Alternating Hemiplegia Of Childhood |
|
Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia, Fa... |
ORPHA:2131 |
Usher Syndrome |
|
Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Abnormal dental... |
ORPHA:886 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Duplicated collecting system, Aortic regurgitation, Inguinal hernia, Ventricular septal defect, L... |
OMIM:607721 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria, Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic... |
OMIM:614946 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Hypercholesterolemia, Camptodactyly of finger, Increased ... |
OMIM:309000 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Abnorma... |
ORPHA:534 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Inguinal hernia, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Descending aor... |
OMIM:130050 |
Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Weight loss |
ORPHA:79242 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Restrictive cardiomyopathy, Small for gestational age |
OMIM:616051 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria... |
ORPHA:18 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Renal dysplasia, Cyst of the ductus choledochus, Patent ductus arteriosus, Abnormal circulating t... |
ORPHA:480880 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased circulating cortisol level, Hyperaldosteronism, Paradoxical increased cortisol secretio... |
ORPHA:189427 |
Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Ventricular septal defect, Premature thelarche, Micropenis, Coarctat... |
OMIM:147920 |
Gyrate Atrophy Of Choroid And Retina |
|
Aminoaciduria |
ORPHA:414 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Tricuspid regurgitation, Hypospadias, Abnormal dental enamel morpholog... |
ORPHA:2556 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
Netherton Syndrome |
|
Aminoaciduria, Hydronephrosis, Ectopic kidney |
ORPHA:634 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Tricuspid regurgitation, Noncompaction cardiomyopathy, Panniculitis, Congestive heart failure |
ORPHA:508542 |
Nicolaides-Baraitser Syndrome |
|
Umbilical hernia, Inguinal hernia, Failure to thrive, Coarctation of aorta |
OMIM:601358 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia |
OMIM:264090 |
D-Lactic Aciduria With Gout |
|
Inguinal hernia, Lacticaciduria |
OMIM:245450 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia |
ORPHA:199276 |
Phacoanaphylactic Uveitis |
|
Anterior uveitis, Keratitis, Hyphema, Retinal arteritis, Panuveitis, Posterior uveitis |
ORPHA:209959 |
Blomstrand Lethal Chondrodysplasia |
|
Coarctation of aorta |
ORPHA:50945 |
Holocarboxylase Synthetase Deficiency |
|
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, 3-hydroxyisovaleric aciduria |
OMIM:253270 |
Biotinidase Deficiency |
|
Limb muscle weakness, Organic aciduria, Decreased circulating biotinidase concentration |
ORPHA:79241 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... |
ORPHA:2152 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux... |
ORPHA:261552 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Increased urinary O-linked sialopeptides, Lip telangiectasia, ... |
OMIM:609242 |
Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration |
ORPHA:567983 |
Wiedemann-Rautenstrauch Syndrome |
|
Hypertriglyceridemia |
ORPHA:3455 |
Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Chorioretinal scar, Elevated circulating creatinine concentration, Renal neutrophilic tubulitis, ... |
ORPHA:91500 |
Argininosuccinic Aciduria |
|
Aminoaciduria, Oroticaciduria |
ORPHA:23 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypertrophic cardiomyopathy |
OMIM:618222 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Ventricular septal defect, Hypoplasia of facial mus... |
OMIM:164210 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnormal heart mo... |
ORPHA:363700 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Telangiectasia of the skin, Telangiectasia, Aminoaciduria, Hypogonad... |
ORPHA:910 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Pallister-Killian Syndrome |
|
Omphalocele, Inguinal hernia, Hypospadias, Ventricular septal defect, Congenital diaphragmatic he... |
OMIM:601803 |
Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Small for gestational age, Failure to thrive in infancy, ... |
OMIM:216340 |
Developmental And Epileptic Encephalopathy 50 |
|
Renal tubular acidosis, Failure to thrive, Oroticaciduria |
OMIM:616457 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A |
|
Failure to thrive, Oroticaciduria |
OMIM:620358 |