Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:613881 |
Cardiomyopathy, Dilated, 1Ee |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:613252 |
Cardiomyopathy, Dilated, 1Dd |
|
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... |
OMIM:613172 |
Cardiomyopathy, Dilated, 1P |
|
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy |
OMIM:609909 |
Cardiomyopathy, Dilated, 1Z |
|
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy |
OMIM:611879 |
Cardiomyopathy, Dilated, 1M |
|
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... |
OMIM:607482 |
Cardiomyopathy, Dilated, 1Ff |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:613286 |
Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
Cardiomyopathy, Dilated, 1L |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... |
OMIM:606685 |
Cardiomyopathy, Dilated, 2B |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... |
OMIM:614672 |
Cardiac Lipidosis, Familial |
|
Congestive heart failure, Cardiomyopathy |
OMIM:212080 |
Leber Hereditary Optic Neuropathy, Modifier Of |
|
Leber optic atrophy, Optic atrophy |
OMIM:308905 |
Cardiomyopathy, Dilated, 1B |
|
Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card... |
OMIM:600884 |
Cardiomyopathy, Dilated, 1J |
|
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... |
OMIM:605362 |
Cardiomyopathy, Dilated, 1O |
|
Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car... |
OMIM:608569 |
Cardiomyopathy, Dilated, 2A |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume |
OMIM:611880 |
Sensorineural Deafness With Dilated Cardiomyopathy |
|
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure |
ORPHA:217622 |
Cardiomyopathy, Dilated, 1Bb |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:612877 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Reduced left ventric... |
OMIM:604765 |
Left Ventricular Noncompaction 10 |
|
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre... |
OMIM:615396 |
Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Mitral ... |
OMIM:615373 |
Long Qt Syndrome 13 |
|
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... |
OMIM:613485 |
Cardiomyopathy, Dilated, 1U |
|
Severely reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Dilated c... |
OMIM:613694 |
Retinitis Pigmentosa 42 |
|
Cystoid macular edema, Rod-cone dystrophy, Peripapillary atrophy, Perifoveal ring of hyperautoflu... |
OMIM:612943 |
Carvajal Syndrome |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia |
OMIM:192600 |
Cardiomyopathy, Dilated, 1Gg |
|
Cardiogenic shock, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular eje... |
OMIM:613642 |
Cardiomyopathy, Dilated, 1G |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre... |
OMIM:604145 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Optic atrophy |
ORPHA:2253 |
Congenital Pulmonary Lymphangiectasia |
|
Pulmonary arterial hypertension, Splenomegaly, Hydrops fetalis, Chylopericardium, Congestive hear... |
ORPHA:2414 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... |
OMIM:604400 |
Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Syncope, Congestive heart failure, Heart block, Arrhythmia |
ORPHA:871 |
Cardiomyopathy, Dilated, 1Nn |
|
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... |
OMIM:615916 |
Cardiomyopathy, Familial Hypertrophic, 15 |
|
Pulmonary arterial hypertension, Apical hypertrophic cardiomyopathy, Left ventricular outflow tra... |
OMIM:613255 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Hyperalaninemia, Pericardial effusion, Oligohydramnios, Decreased activity of mitochondrial compl... |
OMIM:614702 |
Auditory Neuropathy And Optic Atrophy |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:617717 |
Retinitis Pigmentosa 36 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:610599 |
Cardiomyopathy, Dilated, 2F |
|
Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop... |
OMIM:619747 |
Optic Atrophy--Spastic Paraplegia Syndrome |
|
Optic atrophy |
OMIM:311100 |
Hemochromatosis, Type 1 |
|
Splenomegaly, Telangiectasia, Cirrhosis, Azoospermia, Congestive heart failure, Hepatocellular ca... |
OMIM:235200 |
Cardiomyopathy, Dilated, 1V |
|
Reduced left ventricular ejection fraction, Syncope, Congestive heart failure, Increased left ven... |
OMIM:613697 |
Cardiomyopathy, Familial Hypertrophic, 14 |
|
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... |
OMIM:613251 |
Incessant Infant Ventricular Tachycardia |
|
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... |
ORPHA:45453 |
Leber Congenital Amaurosis 13 |
|
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... |
OMIM:612712 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract, Optic disc pallor, Optic atrophy |
OMIM:165300 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Sudden cardiac death, Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, I... |
OMIM:601493 |
Pleural Mesothelioma |
|
Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... |
ORPHA:50251 |
Glaucoma 3, Primary Congenital, E |
|
Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio |
OMIM:617272 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Respiratory insufficiency, Hyperalaninemia, Wolff-Parkinson-White syndrome, Decreased activity of... |
OMIM:618378 |
Cirrhotic Cardiomyopathy |
|
Left ventricular diastolic dysfunction, Ventricular arrhythmia, Peripheral edema, Hepatomegaly, A... |
ORPHA:57777 |
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness |
|
Optic atrophy |
OMIM:136600 |
Optic Atrophy 2 |
|
Optic atrophy |
OMIM:311050 |
Coronary Arterial Fistula |
|
Pedal edema, Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitat... |
ORPHA:2041 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant |
|
Optic atrophy |
OMIM:165199 |
Barth Syndrome |
|
Endocardial fibroelastosis, Dilated cardiomyopathy, Abnormal mitochondrial morphology |
ORPHA:111 |
Acute Interstitial Pneumonia |
|
Bronchiectasis, Pericardial effusion, Pleural effusion, Crackles, Peripheral edema, Decreased DLC... |
ORPHA:79126 |
Cardiomyopathy, Dilated, 1R |
|
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... |
OMIM:613424 |
Optic Atrophy 9 |
|
Optic disc pallor, Optic atrophy |
OMIM:616289 |
Optic Atrophy 5 |
|
Optic atrophy |
OMIM:610708 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... |
OMIM:608099 |
Cardiomyopathy, Dilated, 1Kk |
|
Dilated cardiomyopathy, Congestive heart failure, Increased left ventricular end-diastolic volume... |
OMIM:615248 |
Idiopathic Neonatal Atrial Flutter |
|
Supraventricular tachycardia, Hydrops fetalis, Reduced left ventricular ejection fraction, Abnorm... |
ORPHA:45452 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory insufficiency, Respiratory failure, Hyperglycinemia, Decreased activity of mitochondr... |
OMIM:614299 |
Optic Atrophy 13 With Retinal And Foveal Abnormalities |
|
Attenuation of retinal blood vessels, Optic atrophy |
OMIM:165510 |
Familial Atrial Myxoma |
|
Pedal edema, Bacterial endocarditis, Exertional dyspnea, Pulmonic valve myxoma, Heart murmur, Jau... |
ORPHA:615 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Retinal dystrophy, Microcornea, Posterior lenticonus, Remnants of the hyaloid vascular system, Ir... |
ORPHA:231736 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Polyhydramnios, Congestive heart failure, Decreased activity of mitochondrial complex IV, Increas... |
OMIM:616794 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pericardial effusion, Exercise-induced rhabdomyolysis, Elevated hepatic transaminase, Elevated ci... |
ORPHA:26793 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... |
OMIM:115197 |
Hydrops Fetalis |
|
Polyhydramnios, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Ab... |
ORPHA:1041 |
Glaucoma 1, Open Angle, P |
|
Increased cup-to-disc ratio |
OMIM:177700 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory insufficiency, Polyhydramnios, Hepatic failure, Flexion contracture, Cirrhosis, Abnor... |
ORPHA:367 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... |
OMIM:611705 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Hyperalanin... |
OMIM:619048 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Sudden cardiac death, Periportal fibrosis, Reduced left ventricular ejection fraction, Hepatocell... |
OMIM:201475 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Reduced left ventricular ejection fraction, Left ventricular noncompaction, Tachypnea, Aortic reg... |
OMIM:616501 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Left ventricular outflow tract obstruction, Biventricular hypertrophy, Hepatomegaly, Ventricular ... |
ORPHA:860 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Sudden cardiac death, Right ventricular cardiomyopathy, Congestive heart failure, Premature ventr... |
OMIM:607450 |
Staphylococcal Necrotizing Pneumonia |
|
Hypotension, Pneumothorax, Pleural empyema, Hypoxemia, Respiratory distress, Tachypnea, Pleural e... |
ORPHA:36238 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Respiratory insufficiency, Limb-girdle muscle weakness, Calf muscle hypertrophy, Sinus tachycardi... |
OMIM:255160 |
Atrial Septal Defect, Ostium Primum Type |
|
Systolic heart murmur, Pulmonary artery dilatation, Airway obstruction, Palpitations, Peripheral ... |
ORPHA:99106 |
Hydrops Fetalis, Nonimmune |
|
Congestive heart failure |
OMIM:236750 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Pulmonary insufficiency, Hydrops fetalis, Portal vein hypoplasia, Por... |
OMIM:619433 |
Acute Lung Injury |
|
Abnormal pulmonary interstitial morphology, Increased circulating surfactant protein level, Hypox... |
ORPHA:178320 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Hemosiderin-laden macrophages i... |
OMIM:616414 |
Complete Atrioventricular Septal Defect |
|
Systolic heart murmur, Crackles, Displacement of the papillary muscles, Hepatomegaly, Abnormal P ... |
ORPHA:1329 |
Wagner Vitreoretinopathy |
|
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... |
OMIM:143200 |
Atransferrinemia |
|
Congestive heart failure |
OMIM:209300 |
Avian Influenza |
|
Pneumothorax, Rhabdomyolysis, Productive cough, Hepatitis, Hypoxemia, Congestive heart failure, R... |
ORPHA:454836 |
Congenital Myopathy 8 |
|
Respiratory insufficiency, Increased variability in muscle fiber diameter, Muscle fiber atrophy, ... |
OMIM:618654 |
Fetal Parvovirus Syndrome |
|
Hypertrophic cardiomyopathy, Ascites, Hydrops fetalis, Increased nuchal translucency |
ORPHA:295 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Calf muscle hypertrophy, Absent muscle dystrophin expression, Elbow flexion contracture, Left ven... |
ORPHA:206546 |
Klippel-Trénaunay Syndrome |
|
Respiratory insufficiency, Pulmonary embolism, Hydrops fetalis, Congestive heart failure, Atrial ... |
ORPHA:90308 |
Infantile Sialic Acid Storage Disease |
|
Hydrops fetalis, Congestive heart failure, Hepatomegaly, Cardiomegaly, Ascites, Splenomegaly, Con... |
OMIM:269920 |
Wild Type Attr Amyloidosis |
|
Orthostatic hypotension due to autonomic dysfunction, Pedal edema, Abnormal pulmonary interstitia... |
ORPHA:330001 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased intramyocellular lipid droplets, Mildly elevated creatine kinase, Weakness of facial mu... |
ORPHA:457050 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Conge... |
OMIM:614096 |
Retinitis Pigmentosa 71 |
|
Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h... |
OMIM:616394 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Shortened PR in... |
OMIM:261740 |
Ocular Pigment Dispersion With Or Without Glaucoma |
|
Optic atrophy |
OMIM:600510 |
Peripartum Cardiomyopathy |
|
Pedal edema, Sinus tachycardia, Cardiogenic shock, Crackles, Palpitations, Peripheral edema, Exer... |
ORPHA:563 |
Intracranial Hypertension, Idiopathic |
|
Papilledema |
OMIM:243200 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Iris cyst, Hypoplasia of the fovea, Optic atrophy |
OMIM:620086 |
Carnitine Deficiency, Systemic Primary |
|
Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Microvesicular hepat... |
OMIM:212140 |
Leber Congenital Amaurosis 19 |
|
Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:618513 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Optic atrophy |
OMIM:617087 |
Glycogen Storage Disease Ii |
|
Respiratory insufficiency, Right axis deviation, Recurrent respiratory infections, Sinus tachycar... |
OMIM:232300 |
Cardiomyopathy, Familial Hypertrophic, 8 |
|
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... |
OMIM:608751 |
Congenital Enterovirus Infection |
|
Hypotension, Polyhydramnios, Hepatic failure, Hydrops fetalis, Pericardial effusion, Hepatitis, R... |
ORPHA:292 |
Amoebiasis Due To Entamoeba Histolytica |
|
Abnormal pericardium morphology, Pleural empyema, Liver abscess, Elevated hepatic transaminase, C... |
ORPHA:67 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Developmental cataract, Corneal dystrophy, Optic atrophy |
ORPHA:2572 |
Combined Oxidative Phosphorylation Deficiency 5 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:611719 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Abnormal circulating creatine kinase concentration, Ventricular hypertrophy, Right bundle branch ... |
ORPHA:263297 |
Congenital Left Ventricular Aneurysm |
|
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia |
ORPHA:1055 |
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... |
OMIM:616117 |
Hemochromatosis, Type 2A |
|
Splenomegaly, Cirrhosis, Azoospermia, Dilated cardiomyopathy, Congestive heart failure, Increased... |
OMIM:602390 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Respiratory distress, Tachypnea, Crackles, Restrictive ventilatory defect, Cough, Craz... |
ORPHA:264675 |
Spastic Ataxia 7, Autosomal Dominant |
|
Optic atrophy |
OMIM:108650 |
Reese Retinal Dysplasia |
|
Retinal dysplasia, Remnants of the hyaloid vascular system |
OMIM:266400 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Abnormality of the peritoneum, Dyspnea, Pleural effusion |
ORPHA:48686 |
Noonan Syndrome 8 |
|
Polyhydramnios, Webbed neck, Ventricular septal defect, Left ventricular hypertrophy, Large for g... |
OMIM:615355 |
Familial Dilated Cardiomyopathy |
|
Elevated pulmonary artery pressure, Abnormal circulating creatine kinase concentration, Reduced l... |
ORPHA:217607 |
Butyrylcholinesterase Deficiency |
|
Myocardial infarction, Congestive heart failure |
ORPHA:132 |
Atrial Standstill |
|
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... |
ORPHA:1344 |
Systemic Capillary Leak Syndrome |
|
Hypotension, Pedal edema, Pulmonary edema, Pericarditis, Pleural effusion, Cardiorespiratory arre... |
ORPHA:188 |
Hypocomplementemic Urticarial Vasculitis |
|
Angioedema, Splenomegaly, Small vessel vasculitis, Pericardial effusion, Emphysema, Pleural effus... |
ORPHA:36412 |
Hemochromatosis, Type 2B |
|
Splenomegaly, Cirrhosis, Hepatic fibrosis, Elevated transferrin saturation, Elevated hepatic tran... |
OMIM:613313 |
Propionic Acidemia |
|
Cerebellar hemorrhage, Hyperglycinemia, Limb hypertonia, Tachypnea, Apnea, Hyperammonemia, Hepato... |
OMIM:606054 |
Infant Acute Respiratory Distress Syndrome |
|
Hypotension, Respiratory tract infection, Pulmonary edema, Cardiac arrest, Nasal flaring, Hypoxem... |
ORPHA:70587 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Constrictive pericarditis, Gastrointestinal hemorrhage |
OMIM:602248 |
Recurrent Respiratory Papillomatosis |
|
Respiratory insufficiency, Syncope, Respiratory distress, Recurrent pneumonia, Upper airway obstr... |
ORPHA:60032 |
Loeffler Endocarditis |
|
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... |
ORPHA:75566 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis, Hepatomegaly, Abnormal mit... |
OMIM:618528 |
Cardiomyopathy, Dilated, 1A |
|
Sudden cardiac death, Third degree atrioventricular block, Ventricular arrhythmia, Dilated cardio... |
OMIM:115200 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypotension, Reduced left ventricular ejection fraction, Pulmonary edema, Hyperbilirubinemia, Hyp... |
ORPHA:542323 |
Mulibrey Nanism |
|
Hydrops fetalis, Pericardial constriction, Congestive heart failure, Myocardial fibrosis, Hepatom... |
OMIM:253250 |
Peripheral Cone Dystrophy |
|
Optic disc pallor, Peripheral retinal degeneration, Optic atrophy, Cone/cone-rod dystrophy |
OMIM:609021 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Congestive heart failure, Hypertension, Obesity, Hepatic steatosis, Myocardial infar... |
OMIM:615703 |
Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... |
OMIM:610202 |
Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... |
OMIM:600858 |
Left Ventricular Noncompaction 1 |
|
Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr... |
OMIM:604169 |
Retinitis Pigmentosa 30 |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina... |
OMIM:607921 |
Hsd10 Mitochondrial Disease |
|
Choreoathetosis, Hypertrophic cardiomyopathy, Elevated circulating tiglylglycine concentration, A... |
OMIM:300438 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Pericarditis, Pleural effusion, Elevated circulating C-reactive protein concentration, Hepatomega... |
ORPHA:85414 |
Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Pericardial effusion, Abnormal tricusp... |
ORPHA:555874 |
Aortic Arch Interruption |
|
Pedal edema, Systolic heart murmur, Left ventricular outflow tract obstruction, Truncus arteriosu... |
ORPHA:2299 |
Retinitis Pigmentosa 33 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:610359 |
Seizures, Cortical Blindness, And Microcephaly Syndrome |
|
Optic atrophy |
OMIM:616632 |
Sarcoidosis, Susceptibility To, 2 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Pneumothorax, Bronch... |
OMIM:612387 |
Aniridia 2 |
|
Optic atrophy, Lens subluxation, Iris coloboma, Cataract, Aniridia |
OMIM:617141 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc... |
OMIM:618052 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Central sleep apnea, Congestive heart failure, Hepatic steatosis, Hyper... |
ORPHA:70472 |
Spastic Paraplegia 74, Autosomal Recessive |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:616451 |
Retinitis Pigmentosa 57 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613582 |
Glycogen Storage Disease Iv |
|
Polyhydramnios, Cirrhosis, Hydrops fetalis, Hepatic failure, Hepatosplenomegaly, Edema, Skeletal ... |
OMIM:232500 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy |
OMIM:121820 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Congestive heart failure |
OMIM:301021 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Dilated cardiomyopathy, Congestive heart failure, Edema, Ventricular tachycardia, Cardiomyocyte h... |
OMIM:605676 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Pleural effusion, Palpitations, Peripheral edema, Hepatomegaly, Tricuspid regurgitation, Abnormal... |
ORPHA:1677 |
Combined Oxidative Phosphorylation Deficiency 17 |
|
Hypertrophic cardiomyopathy, Decreased activity of mitochondrial complex I, Congestive heart failure |
OMIM:615440 |
Cardiomyopathy, Dilated, 1D |
|
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... |
OMIM:601494 |
Coloboma, Ocular, Autosomal Dominant |
|
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma... |
OMIM:120200 |
Pulmonary Capillary Hemangiomatosis |
|
Elevated pulmonary artery pressure, Pedal edema, Hemothorax, Exertional dyspnea, Pulmonary edema,... |
ORPHA:199241 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... |
ORPHA:1345 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
Birdshot Chorioretinopathy |
|
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... |
ORPHA:179 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Macrovesicular hepatic steatosis, Hyper... |
OMIM:618234 |
Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Congestive heart failure, Hypertrophic cardiomyopathy, Myocarditis, Bradyca... |
OMIM:617222 |
Olivopontocerebellar Atrophy-Deafness Syndrome |
|
Chorioretinal coloboma, Optic atrophy |
ORPHA:2732 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea, Macular dyst... |
OMIM:217800 |
Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
Combined Oxidative Phosphorylation Deficiency 22 |
|
Pulmonary arterial hypertension, Hyperalaninemia, Congestive heart failure, Decreased activity of... |
OMIM:616045 |
Primary Pulmonary Hypoplasia |
|
Pneumothorax, Abnormal breath sound, Asthma, Increased circulating surfactant protein level, Secu... |
ORPHA:2257 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory failure, Desquamative interstitial pneumonitis, Respiratory distress, Recurrent upper... |
OMIM:263000 |
Cardiomyopathy, Dilated, 1Y |
|
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... |
OMIM:611878 |
Cataract-Microcornea Syndrome |
|
Microcornea, Iris coloboma, Cataract, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Ceroid Lipofuscinosis, Neuronal, 9 |
|
Rod-cone dystrophy, Optic atrophy |
OMIM:609055 |
Leber Congenital Amaurosis 4 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels... |
OMIM:604393 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Generalized amyotrophy, Dilated cardiomyopathy, Elevated circulat... |
ORPHA:352447 |
Polymyositis |
|
Respiratory insufficiency, Abnormal atrioventricular conduction, Abnormal pulmonary interstitial ... |
ORPHA:732 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number, Limb-girdle muscle weakness, Multiple joint contractures, Exertio... |
ORPHA:352470 |
Pseudo-Torch Syndrome 2 |
|
Respiratory insufficiency, Cerebral hemorrhage, Secundum atrial septal defect, Elevated hepatic t... |
OMIM:617397 |
Retinitis Pigmentosa 63 |
|
Rod-cone dystrophy, Optic disc pallor |
OMIM:614494 |
Malignant Hyperthermia Of Anesthesia |
|
Supraventricular tachycardia, Hyperphosphatemia, Abnormality of masseter muscle, Exercise-induced... |
ORPHA:423 |
Muscular Dystrophy, Duchenne Type |
|
Knee flexion contracture, Flexion contracture, Respiratory failure, Hypoventilation, Abnormal EKG... |
OMIM:310200 |
Immunodeficiency 91 And Hyperinflammation |
|
Pulmonary hemorrhage, Abnormal pulmonary interstitial morphology, Elevated hepatic transaminase, ... |
OMIM:619644 |
Pulmonary Alveolar Microlithiasis |
|
Respiratory insufficiency, Pneumothorax, Bronchiectasis, Oxygen desaturation on exertion, Periphe... |
ORPHA:60025 |
Combined Oxidative Phosphorylation Deficiency 23 |
|
Cardiomyopathy, Congestive heart failure, Arrhythmia |
OMIM:616198 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pneumothorax, Bronchiectasis, Pericardial effusion, Respiratory distress, Chronic pulmonary obstr... |
ORPHA:411703 |
Sandhoff Disease |
|
Splenomegaly, Recurrent respiratory infections, Congestive heart failure, Hepatomegaly |
ORPHA:796 |
Retinitis Pigmentosa 81 |
|
Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A... |
OMIM:617871 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Polyhydramnios, Flexion contracture, Hydrops fetalis, Ventricular septal defect, Webbed neck, Pul... |
OMIM:616897 |
Fixed Subaortic Stenosis |
|
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... |
ORPHA:3092 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Abnormality of the mitochondrion, Respiratory distress, Hypertrophic cardiomyopathy, Low-output c... |
ORPHA:91130 |
Maternally-Inherited Diabetes And Deafness |
|
Abnormal circulating lipid concentration, Hypertension, Congestive heart failure, Hypertrophic ca... |
ORPHA:225 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Respiratory fai... |
ORPHA:890 |
Bacterial Toxic-Shock Syndrome |
|
Hypotension, Respiratory tract infection, Hepatitis, Peritonitis, Respiratory distress, Tachypnea... |
ORPHA:36234 |
Atrial Septal Defect, Sinus Venosus Type |
|
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Airway obstruc... |
ORPHA:99105 |
Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Decreased corneal thickness, Iris transill... |
OMIM:309300 |
Cardiomyopathy, Familial Hypertrophic, 11 |
|
Right bundle branch block, Cardiac arrest, Syncope, Angina pectoris, Congestive heart failure, Hy... |
OMIM:612098 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Elevated bronchoalveolar lavage fluid neutrophil proportion, Ventricular septal defect, Asthma, C... |
OMIM:610978 |
Liberfarb Syndrome |
|
Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen... |
OMIM:618889 |
Congenital Gerbode Defect |
|
Pedal edema, Systolic heart murmur, Crackles, Palpitations, Peripheral edema, Elevated right atri... |
ORPHA:99095 |
Retinal Dystrophy And Obesity |
|
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... |
OMIM:616188 |
Microphthalmia, Isolated 5 |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... |
OMIM:611040 |
Optic Atrophy 12 |
|
Optic disc pallor, Optic atrophy |
OMIM:618977 |
Tetanus |
|
Hypertension, Respiratory distress, Elevated circulating creatine kinase concentration, Tremor, O... |
ORPHA:3299 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymi... |
ORPHA:324588 |
Necrotizing Enterocolitis |
|
Hypotension, Peritonitis, Shock, Apnea, Edema, Abnormal heart morphology, Hyponatremia, Ascites, ... |
ORPHA:391673 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Flexion contracture, Abnormal aortic valve morphology, Congestive heart ... |
ORPHA:1194 |
Neuraminidase Deficiency |
|
Hydrops fetalis, Skeletal muscle atrophy, Hepatomegaly, Cardiomegaly, Ascites, Facial edema, Sple... |
OMIM:256550 |
Scedosporiosis |
|
Endocarditis, Bronchitis, Pleural empyema, Pleuritis, Abnormal respiratory system physiology, Per... |
ORPHA:449280 |
Retinitis Pigmentosa 95 |
|
Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bone spicule pigmentation of the ret... |
OMIM:620102 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Dysp... |
ORPHA:1349 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Optic atrophy, Iris coloboma, Cataract, Corneal opacity, Chorioretinal col... |
ORPHA:1473 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Retinal dystrophy, Optic atrophy |
OMIM:614706 |
Tropical Endomyocardial Fibrosis |
|
Pedal edema, Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfun... |
ORPHA:75565 |
Retinitis Pigmentosa 62 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:614181 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory insufficiency, Elevated circulating acylcarnitine concentration, Hydrops fetalis, Rha... |
OMIM:609015 |
Night Blindness, Congenital Stationary, Type 1G |
|
Rod-cone dystrophy, Optic disc pallor, Congenital stationary night blindness |
OMIM:616389 |
Cone-Rod Dystrophy 17 |
|
Optic disc pallor, Cone/cone-rod dystrophy |
OMIM:615163 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Bacterial endocarditis, Is... |
ORPHA:2038 |
Stickler Syndrome Type 2 |
|
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology |
ORPHA:90654 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Aspiration pneumonia, Episodic tachypnea, Apnea, Abnormal heart morphology, Tachycardia |
ORPHA:79264 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Optic nerve dysplasia, Progressive cataract, Developmental cataract |
OMIM:246000 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Heart murmur, Pulmo... |
ORPHA:3426 |
Aspergillosis |
|
Bronchiectasis, Asthma, Pleuritis, Hepatitis, Intracranial hemorrhage, Abnormality on pulmonary f... |
ORPHA:1163 |
Cardiomyopathy, Familial Hypertrophic, 26 |
|
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... |
OMIM:617047 |
Malignant Atrophic Papulosis |
|
Abnormal pericardium morphology, Ischemic stroke, Pleural effusion, Myocardial infarction, Gastro... |
ORPHA:679 |
Immune-Mediated Necrotizing Myopathy |
|
Abnormal pulmonary interstitial morphology, Raynaud phenomenon, Congestive heart failure, Elevate... |
ORPHA:206569 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Intraalveolar phosph... |
ORPHA:217563 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioninemia, ... |
OMIM:614857 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Sudden cardiac death, Cerebellar hemorrhage, Elevated circulating acylcarnitine concentration, Ce... |
ORPHA:99901 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Optic atrophy |
OMIM:616370 |
Familial Cutaneous Collagenoma |
|
Congestive heart failure, Angina pectoris, Cardiomyopathy |
ORPHA:53296 |
Optic Nerve Hypoplasia, Bilateral |
|
Remnants of the hyaloid vascular system, Morning glory anomaly, Optic nerve aplasia, Optic nerve ... |
OMIM:165550 |
Sialidosis Type 2 |
|
Pedal edema, Flexion contracture, Hydrops fetalis, Tremor, Skeletal muscle atrophy, Dyspnea, Hepa... |
ORPHA:87876 |
Scorpion Envenomation |
|
Cardiogenic shock, Abnormal nasal mucus secretion, Increased circulating creatine kinase MB isofo... |
ORPHA:466677 |
Spastic Paraplegia, Optic Atrophy, And Dementia |
|
Optic disc pallor, Optic atrophy |
OMIM:182830 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Pulmonary arterial hypertension, Cardiomegaly, Hypertension, Tachypnea |
OMIM:613320 |
Classic Multiminicore Myopathy |
|
Multiple joint contractures, Muscle fiber atrophy, Generalized amyotrophy, Nocturnal hypoventilat... |
ORPHA:324604 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory insufficiency, Desquamative interstitial pneumonitis, Bronchiectasis, Decreased DLCO,... |
OMIM:610913 |
Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... |
OMIM:204100 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertension, Congestive heart fail... |
OMIM:540000 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Ascites, Gastrointestinal hemorrhage, Hepatomegaly |
ORPHA:2198 |
Cocaine Intoxication |
|
Hypotension, Pneumothorax, Ischemic stroke, Ventricular arrhythmia, Supraventricular arrhythmia, ... |
ORPHA:90068 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Decreased activity of mitochondrial complex I, Severely reduced left ventricular ejection fractio... |
ORPHA:444013 |
Isolated Right Ventricular Hypoplasia |
|
Bidirectional shunt, Systolic heart murmur, Right bundle branch block, Abnormal atrioventricular ... |
ORPHA:439 |
Retinitis Pigmentosa 32 |
|
Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:609913 |
Danon Disease |
|
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... |
OMIM:300257 |
Q Fever |
|
Endocarditis, Abnormal pulmonary interstitial morphology, Splenomegaly, Abnormality of the liver,... |
ORPHA:781 |
Retinitis Pigmentosa 70 |
|
Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess... |
OMIM:615922 |
Retinitis Pigmentosa 50 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt... |
OMIM:613194 |
Barth Syndrome |
|
Endocardial fibroelastosis, Skeletal myopathy, Recurrent bronchitis, Congestive heart failure, In... |
OMIM:302060 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypotension, Hyperuricemia, Cardiac arrest, Jaundice, Elevated hepatic transaminase, Dilated card... |
ORPHA:20 |
Respiratory Distress Syndrome In Premature Infants |
|
Pulmonary edema, Respiratory distress, Edema, Dyspnea, Neonatal respiratory distress, Atelectasis... |
OMIM:267450 |
Retinitis Pigmentosa 11 |
|
Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati... |
OMIM:600138 |
Desminopathy |
|
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... |
ORPHA:98909 |
Optic Atrophy 6 |
|
Optic atrophy |
OMIM:258500 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Atrial septal defec... |
OMIM:617300 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Pedal edema, Respiratory tract infection, Hypertension, Pleural effusion, Ede... |
ORPHA:567546 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Ventricular arrhythmia, Syn... |
ORPHA:300751 |
Tularemia |
|
Respiratory distress, Pleural effusion, Cough, Pneumonia, Tachycardia |
ORPHA:3392 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Optic atrophy |
ORPHA:2773 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Increased total bilirubin, Ascites, Polycystic liver disease, Dyspnea |
OMIM:174050 |
American Trypanosomiasis |
|
Achalasia, Congestive heart failure, Arrhythmia, Edema, Dyspnea, Cough, Hepatomegaly, Periorbital... |
ORPHA:3386 |
Retinitis Pigmentosa 38 |
|
Rod-cone dystrophy, Peripheral retinal atrophy, Optic disc pallor, Macular atrophy |
OMIM:613862 |
Nephrosialidosis |
|
Pericardial effusion, Ascites |
OMIM:256150 |
Eisenmenger Syndrome |
|
Atrioventricular canal defect, Pedal edema, Aortopulmonary window, Ventricular arrhythmia, Suprav... |
ORPHA:97214 |
Attrv122I Amyloidosis |
|
Restrictive cardiomyopathy, Cardiomegaly, Reduced left ventricular ejection fraction, Abnormal EK... |
ORPHA:85451 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Limb hypertonia, Resting tremor, Choreoathetosis, Dilated cardiomyopathy, Congestive heart failur... |
OMIM:606703 |
Congenital Heart Defects, Multiple Types, 2 |
|
Left ventricular outflow tract obstruction, Congestive heart failure, Aortic regurgitation, Aorti... |
OMIM:614980 |
Retinitis Pigmentosa 26 |
|
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels |
OMIM:608380 |
Retinitis Pigmentosa 28 |
|
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:606068 |
Retinitis Pigmentosa 13 |
|
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... |
OMIM:600059 |
Atrial Septal Defect, Ostium Secundum Type |
|
Pedal edema, Systolic heart murmur, Supraventricular arrhythmia, Breathing dysregulation, Abnorma... |
ORPHA:99103 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated hepatic tr... |
ORPHA:26791 |
Congenital Toxoplasmosis |
|
Jaundice, Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Ascites |
ORPHA:858 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Respiratory insufficiency, Flexion contracture, Congestive heart failure, Myopathy, Skeletal musc... |
ORPHA:157973 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Optic nerve hypoplasia,... |
ORPHA:137902 |
Ethylene Glycol Poisoning |
|
Hypotension, Episodic respiratory distress, Cerebral edema, Pulmonary edema, Hyperkalemia, Hypert... |
ORPHA:31826 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Hypoxemia, Pleural effusion, Crackles, Nonproductive cough, Restrictive ventilatory defec... |
ORPHA:2902 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Generalized... |
ORPHA:52430 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatic fibrosis, Pericardial effusion, Left ventricular hypertrophy, Hypertension, Elevated hepa... |
OMIM:619487 |
Histiocytoid Cardiomyopathy |
|
Supraventricular tachycardia, Right bundle branch block, Ventricular septal defect, Pulmonary ede... |
ORPHA:137675 |
Central Retinal Vein Occlusion |
|
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... |
ORPHA:411527 |
Blue Cone Monochromatism |
|
Corneal dystrophy, Abnormality of retinal pigmentation |
ORPHA:16 |
Retinitis Pigmentosa 86 |
|
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:618613 |
Cone-Rod Dystrophy, X-Linked, 3 |
|
Cone/cone-rod dystrophy, Astigmatism, Abnormality of macular pigmentation, Retinal detachment, Op... |
OMIM:300476 |
Wolfram-Like Syndrome, Autosomal Dominant |
|
Optic disc pallor, Optic atrophy |
OMIM:614296 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Retinal hemorrhage, Vitreous hemorrhage, Hip contracture, Abnormality of the liver, Cerebral hemo... |
ORPHA:464321 |
Immunodeficiency 87 And Autoimmunity |
|
Atrioventricular canal defect, Pleural effusion, Biventricular hypertrophy, Hepatic steatosis, He... |
OMIM:619573 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1574 |
Dengue Fever |
|
Hypotension, Cerebral hemorrhage, Epistaxis, Cardiorespiratory arrest, Hypoproteinemia, Gastroint... |
ORPHA:99828 |
Pediatric Systemic Lupus Erythematosus |
|
Pericardial effusion, Raynaud phenomenon, Myositis, Pleural effusion, Edema, Dyspnea, Ascites |
ORPHA:93552 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Polyhydramnios, Pericardial effusion, Pleural effusion, Recurrent upper respiratory tract infecti... |
OMIM:618183 |
Secondary Intestinal Lymphangiectasia |
|
Cirrhosis, Decreased prealbumin level, Lymphedema, Reduced circulating transferrin concentration,... |
ORPHA:90363 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Intermittent jaundice, Hepatic cysts, Facial telangiectasia, Heart murmur, Neoplasm of the liver,... |
ORPHA:100085 |
Hepatoportal Sclerosis |
|
Nodular regenerative hyperplasia of liver, Abnormal liver parenchyma morphology, Periportal fibro... |
ORPHA:64743 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Pericardial effusion, Generalized edema, Pleural effusion, Edema, Hypoprotei... |
ORPHA:90362 |
Erdheim-Chester Disease |
|
Abnormal pericardium morphology, Abnormal pulmonary interstitial morphology, Retroperitoneal fibr... |
ORPHA:35687 |
Beta-Ketothiolase Deficiency |
|
Hypotension, Hyperuricemia, Hypertension, Edema, Hyperammonemia, Cough, Hepatomegaly, Dehydration... |
ORPHA:134 |
Irvan Syndrome |
|
Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ... |
ORPHA:209943 |
African Iron Overload |
|
Hepatic fibrosis, Hepatitis, Elevated transferrin saturation, Hepatocellular carcinoma, Congestiv... |
ORPHA:139507 |
Cardiocranial Syndrome, Pfeiffer Type |
|
Plantar flexion contracture, Episodic tachypnea, Torticollis, Small hypothenar eminence, Contract... |
ORPHA:2872 |
Lymphatic Malformation 8 |
|
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Generalized edema |
OMIM:618773 |
Infantile-Onset Spinocerebellar Ataxia |
|
Abnormality of the autonomic nervous system, Optic atrophy |
ORPHA:1186 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Plantar telangiectasia, Hydrops fetalis, Predominantly lower limb lymphedema, Pleural effusion, P... |
ORPHA:69735 |
Capillary Malformation-Arteriovenous Malformation |
|
Telangiectasia, Cerebral ischemia, Lymphedema, Congestive heart failure, Abnormality of the muscu... |
ORPHA:137667 |
Cholera |
|
Hypotension, Aspiration pneumonia, Hypokalemia, Abnormal blood ion concentration, Hypovolemic sho... |
ORPHA:173 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Jaundice... |
OMIM:617049 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Respiratory insufficiency, Polyhydramnios, Aplasia/Hypoplasia of the lungs, Oligohydramnios, Asci... |
ORPHA:1046 |
Hb Bart'S Hydrops Fetalis |
|
Polyhydramnios, Hydrops fetalis, Congestive heart failure, Oligohydramnios, Pericarditis, Hepatom... |
ORPHA:163596 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Cerebral edema, Hyperalaninemia, Hepatic failure, Left ventricular hypertrophy, Congestive heart ... |
OMIM:619355 |
Congenital Sialidosis Type 2 |
|
Respiratory tract infection, Telangiectasia, Abnormal EKG, Hepatosplenomegaly, Edema, Abnormal he... |
ORPHA:93400 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Splenomegaly, Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitocho... |
OMIM:251880 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Patent foramen ovale, Increased variability in muscle fiber diameter, Flexion contracture, Muscle... |
OMIM:616866 |
Idiopathic Hypereosinophilic Syndrome |
|
Supraventricular arrhythmia, Elevated hepatic transaminase, Hepatosplenomegaly, Pleural effusion,... |
ORPHA:3260 |
Follicular Lymphoma |
|
Pleural effusion, Abnormality of the peritoneum, Splenomegaly, Lymphedema |
ORPHA:545 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Cerebral edema, Hepatic failure, Microvesicular hepatic steatosis, Elevated hepatic transaminase,... |
OMIM:611126 |
Retinitis Pigmentosa 88 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse... |
OMIM:618826 |
3-Methylglutaconic Aciduria, Type V |
|
Sudden cardiac death, Elevated circulating alanine aminotransferase concentration, Microvesicular... |
OMIM:610198 |
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome |
|
Camptodactyly of finger, Pleuritis, Mitral valve prolapse, Camptodactyly of toe, Pericarditis, Mi... |
ORPHA:2848 |
Retinitis Pigmentosa 76 |
|
Peripapillary atrophy, Retinal thinning, Hyperautofluorescent macular lesion, Bone spicule pigmen... |
OMIM:617123 |
Maternal Uniparental Disomy Of Chromosome X |
|
Camptodactyly of finger, Hepatic failure, Flexion contracture, Predominantly lower limb lymphedem... |
ORPHA:261519 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion, Increased circulating ferritin concentration, Elevated ci... |
OMIM:613011 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... |
OMIM:193230 |
Retinitis Pigmentosa 46 |
|
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... |
OMIM:612572 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Left ventricular outflow tract obstruction, Respiratory tract infectio... |
ORPHA:308552 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Pulmonary embolism, Edema, Hypoproteinemia, Hepatomegaly, Budd-Chiari syndrome, Ascites, Hypoalbu... |
OMIM:226300 |
Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Epidural hemorrhage, Pericardial effusion, Abnormal spleen morphology, Hepatosp... |
ORPHA:464329 |
Congenital Disorder Of Glycosylation, Type Il |
|
Abnormal cardiac septum morphology, Pericardial effusion, Hepatosplenomegaly, Edema, Hepatomegaly... |
OMIM:608776 |
Babesiosis |
|
Respiratory insufficiency, Hepatic failure, Jaundice, Recurrent pharyngitis, Congestive heart fai... |
ORPHA:108 |
Congenital Tricuspid Stenosis |
|
Pulmonary arterial hypertension, Hypotension, Heart murmur, Congestive heart failure, Tricuspid s... |
ORPHA:95459 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Hypertension, C... |
OMIM:614473 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Pulmonary arterial hypertension, Intraalveolar phospholipid accumulation, Desquamative interstiti... |
OMIM:265120 |
Pparg-Related Familial Partial Lipodystrophy |
|
Thin skin, Cirrhosis, Hyperuricemia, Abnormality of skeletal muscle fiber size, Pancreatitis, Hyp... |
ORPHA:79083 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Perimembranous ventricular septal defect, Camptodactyly, Oligohydramnios, Edema, Cholestasis, Hep... |
OMIM:608104 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Hyperalaninemia, Mitochondrial swelling, Hypertrophic cardiomyopathy, Palpitations, Abnormal hear... |
OMIM:618250 |
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:2246 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome |
|
Optic atrophy |
ORPHA:1538 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Telangiectasia, Raynaud phenomenon, Myositis, Skeletal muscle atrophy, Elevated circulating C-rea... |
OMIM:615934 |
Noonan Syndrome 10 |
|
Webbed neck, Ventricular septal defect, Mitral stenosis, Mitral valve prolapse, Left ventricular ... |
OMIM:616564 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hyperleucinemia, Increased blood urea nitrogen, Hyperammonemia, Hypervalinemia, Hyperisoleucinemi... |
OMIM:620085 |
Naxos Disease |
|
Sudden cardiac death, Paroxysmal ventricular tachycardia, Congestive heart failure, Arrhythmia, C... |
ORPHA:34217 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Retinal dystrophy, Abnormality of retinal pigmentation, Cataract, Chorioretinal dys... |
OMIM:251270 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Polyhydramnios, Decreased muscle mass, Congestive heart failure, Atrial septal defect, Facial hyp... |
ORPHA:500533 |
Autosomal Dominant Keratitis |
|
Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co... |
ORPHA:2334 |
Autosomal Recessive Spastic Paraplegia Type 45 |
|
Optic atrophy |
ORPHA:320396 |
Retinitis Pigmentosa 78 |
|
Cystoid macular edema, Optic disc pallor |
OMIM:617433 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Cirrhosis, Decreased muscle mass, Abnormality of iron homeostasis, Elevated jugular venous pressu... |
ORPHA:465508 |
Truncus Arteriosus |
|
Truncus arteriosus, Pulmonary hypoplasia, Pulmonary artery stenosis, Ventricular septal defect, A... |
ORPHA:3384 |
Gaucher Disease Type 1 |
|
Pulmonary arterial hypertension, Pedal edema, Abnormal pulmonary interstitial morphology, Cirrhos... |
ORPHA:77259 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly, Congestive heart failure |
OMIM:300886 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Increased HDL cholesterol concentration, Abnormal left ventricular function, Palpitations, Reduce... |
ORPHA:70591 |
Poems Syndrome |
|
Pulmonary arterial hypertension, Pericardial effusion, Pleural effusion, Edema, Restrictive venti... |
ORPHA:2905 |
Lymphatic Malformation 6 |
|
Polyhydramnios, Webbed neck, Lymphedema, Nonimmune hydrops fetalis, Atrial septal defect, Pleural... |
OMIM:616843 |
Leber Congenital Amaurosis 9 |
|
Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p... |
OMIM:608553 |
Absence Of The Pulmonary Artery |
|
Pedal edema, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphology, Bronc... |
ORPHA:980 |
Scimitar Syndrome |
|
Pneumothorax, Truncus arteriosus, Hypoplasia of the diaphragm, Pulmonary hypoplasia, Heart block,... |
ORPHA:185 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Abnormal circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
OMIM:615838 |
Tako-Tsubo Cardiomyopathy |
|
Hypotension, Coronary artery stenosis, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris... |
ORPHA:66529 |
Splenoportal Vascular Anomalies |
|
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Hyperammonemia, Ascites, Splen... |
OMIM:271500 |
Glaucoma 1, Open Angle, F |
|
Increased cup-to-disc ratio |
OMIM:603383 |
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures |
|
Optic disc pallor, Cerulean cataract |
OMIM:616732 |
Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Myotonia, Elevated ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Myotonia, Elevated ... |
ORPHA:98853 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation... |
OMIM:618195 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Micronodular cirrhosis, Hepatomegaly,... |
OMIM:301045 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hyperalaninemia, Hyperuricemia, Episodic tachypnea, Intermittent hyperventilation, Apneic episode... |
ORPHA:348 |
Hyperkalemic Periodic Paralysis |
|
Respiratory insufficiency, Flexion contracture, Hypokalemia, Hyperkalemia, Congestive heart failu... |
ORPHA:682 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormality of peripheral nerve conduction, Optic atrophy |
ORPHA:431329 |
Pontocerebellar Hypoplasia, Type 13 |
|
Asthma, Pleural effusion, Edema, Decreased liver function, Sleep apnea, Recurrent respiratory inf... |
OMIM:618606 |
Retinitis Pigmentosa 19 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:601718 |
Persistent Hyperplastic Primary Vitreous |
|
Retinal fold, Tractional retinal detachment, Persistent pupillary membrane, Leukocoria, Macular h... |
ORPHA:91495 |
Cardiac Valvular Dysplasia, X-Linked |
|
Bicuspid aortic valve, Mitral valve prolapse, Short chordae tendineae of the tricuspid valve, Sho... |
OMIM:314400 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Paraseptal em... |
OMIM:610921 |
Portal Hypertension, Noncirrhotic, 2 |
|
Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas... |
OMIM:619463 |
Serotonin Syndrome |
|
Hypotension, Hepatic failure, Rhabdomyolysis, Hypertension, Tremor, Tachycardia, Tachypnea |
ORPHA:43116 |
Stuve-Wiedemann Syndrome 2 |
|
Pulmonary arterial hypertension, Camptodactyly, Congestive heart failure, Respiratory distress |
OMIM:619751 |
Waldenström Macroglobulinemia |
|
Respiratory insufficiency, Retinal hemorrhage, Pedal edema, Congestive heart failure, Epistaxis, ... |
ORPHA:33226 |
Primary Sclerosing Cholangitis |
|
Spider hemangioma, Hepatocellular carcinoma, Elevated hepatic transaminase, Cholangiocarcinoma, H... |
ORPHA:171 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Decreased activity of mitochondrial complex IV, Increased mitochondrial number |
OMIM:619063 |
Retinitis Pigmentosa 73 |
|
Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen... |
OMIM:616544 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Paroxysmal atrial tachycardia, Ventricular septal defect, Cardiac arrest, Congestive heart failur... |
ORPHA:49827 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Camptodactyly of finger, Denervation of the diaphragm, Spinal muscular atrophy, Diaphragmatic eve... |
OMIM:604320 |
Idiopathic Pulmonary Arterial Hypertension |
|
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Pedal edema, Heart murmur, S... |
ORPHA:275766 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Thin skin, Abnormality of skeletal muscle fiber size, Pancreatitis, Congestive heart failure, Hep... |
ORPHA:2348 |
Leber Congenital Amaurosis 16 |
|
Cataract, Optic disc pallor |
OMIM:614186 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Usher Syndrome, Type 1M |
|
Optic disc pallor, Drusen |
OMIM:618632 |
Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal heart valve morphology, Congestive heart failure, Heart murmur |
ORPHA:3400 |
Tempi Syndrome |
|
Telangiectasia, Hypoxemia, Intracranial hemorrhage, Transudative pleural effusion, Ascites, Abnor... |
ORPHA:284227 |
Retinitis Pigmentosa 10 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:180105 |
Citrullinemia Type I |
|
Hepatic failure, Torticollis, Hyperammonemia, Elevated plasma citrulline, Tachypnea |
ORPHA:247525 |
Neurodegeneration With Brain Iron Accumulation |
|
Retinopathy, Optic atrophy |
ORPHA:385 |
Free Sialic Acid Storage Disease |
|
Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Recurrent respiratory infe... |
ORPHA:834 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di... |
OMIM:612158 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Polyhydramnios, Cirrhosis, Hepatic failure, Microvesicular hepatic steatosis,... |
OMIM:617156 |
Dk1-Cdg |
|
Interstitial cardiac fibrosis, Elevated hepatic transaminase, Dilated cardiomyopathy, Congestive ... |
ORPHA:91131 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Optic disc pallor |
OMIM:616171 |
Craniofaciofrontodigital Syndrome |
|
Pulmonary arterial hypertension, Polyhydramnios, Cardiomegaly, Persistent fetal circulation, Vent... |
ORPHA:363705 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Myotonia, Elevated ... |
ORPHA:98855 |
Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory insufficiency, Tricuspid regurgitation, Skeletal myopathy, Rhabdomyolysis, Lower limb... |
ORPHA:746 |
Morning Glory Disc Anomaly |
|
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities |
|
Retinal dystrophy, Optic disc pallor |
OMIM:616079 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
Retinitis Pigmentosa 79 |
|
Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... |
OMIM:617460 |
Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Cirrhosis, Congestive heart failure, Macroglossia, Hepatic steatosis, ... |
ORPHA:528 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract, Abnormal optic disc morphology, Abnormality of retinal pigmentation |
ORPHA:65 |
Multiple Carboxylase Deficiency |
|
Hyperammonemia, Limb muscle weakness, Respiratory distress, Tachypnea |
ORPHA:148 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Retinal degeneration, Optic atrophy |
OMIM:614322 |
Mental Retardation With Optic Atrophy, Deafness, And Seizures |
|
Optic atrophy |
OMIM:309555 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Polyhydramnios, Asplenia, Nonimmune hydrops fetalis, Pulmonary art... |
OMIM:265380 |
Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin |
ORPHA:141179 |
Ebstein Malformation Of The Tricuspid Valve |
|
Sudden cardiac death, Imperforate tricuspid valve, Respiratory insufficiency, Right bundle branch... |
ORPHA:1880 |
Galactosemia |
|
Cirrhosis, Hepatic failure, Hypergalactosemia, Increased level of galactitol in plasma, Postural ... |
ORPHA:352 |
Ovarian Hyperstimulation Syndrome |
|
Hypovolemia, Pulmonary edema, Pleural effusion, Peripheral edema, Capillary leak, Ascites, Genera... |
ORPHA:64739 |
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease |
|
Retinal arteriolar constriction, Papilledema |
OMIM:124950 |
Cardiomyopathy, Dilated, 1S |
|
Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef... |
OMIM:613426 |
Collagenoma, Familial Cutaneous |
|
Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu... |
OMIM:115250 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Respiratory insufficiency, Hyperalaninemia, Left ventricular noncompaction, Hypertrophic cardiomy... |
OMIM:615917 |
Pneumocystosis |
|
Respiratory insufficiency, Exertional dyspnea, Interstitial pneumonitis, Hypoxemia, Pleural effus... |
ORPHA:723 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Sudden cardiac death, Supraventricular arrhythmia, Elbow flexion contracture, Myotonia, Elevated ... |
ORPHA:98863 |
Cirrhosis, Familial |
|
Pulmonary arterial hypertension, Cirrhosis, Biliary cirrhosis, Fulminant hepatitis, Jaundice, Hyp... |
OMIM:215600 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy... |
ORPHA:206549 |
Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Cirrhosis, Abnormal pulmonary valve morphology, Gastrointestinal... |
ORPHA:974 |
Fabry Disease |
|
Lymphedema, Transient ischemic attack, Left ventricular hypertrophy, Congestive heart failure, An... |
OMIM:301500 |
Cardiogenic Shock |
|
Hypotension, Impaired myocardial contractility, Abnormal EKG, Elevated jugular venous pressure, C... |
ORPHA:97292 |
Familial Mediterranean Fever |
|
Pleuritis, Pericarditis, Pleural effusion, Elevated circulating C-reactive protein concentration,... |
OMIM:249100 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, ... |
OMIM:221900 |
Eosinophilic Gastroenteritis |
|
Allergic rhinitis, Asthma, Edema, Elevated circulating C-reactive protein concentration, Ascites,... |
ORPHA:2070 |
Hemorrhagic Fever-Renal Syndrome |
|
Hypotension, Elevated hepatic transaminase, Shock, Pleural effusion, Palpitations, Capillary leak... |
ORPHA:340 |
Myofibrillar Myopathy 10 |
|
Knee flexion contracture, Increased QRS voltage, Elbow flexion contracture, Left ventricular hype... |
OMIM:619040 |
Mitochondrial Phosphate Carrier Deficiency |
|
Respiratory insufficiency, Hypertrophic cardiomyopathy, Abnormal mitochondrial shape |
OMIM:610773 |
Retinitis Pigmentosa 56 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613581 |
Leptospirosis |
|
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Rhabdomyolysis, Hepatitis, Jaundice, Respi... |
ORPHA:509 |
Refsum Disease, Classic |
|
Elevated circulating phytanic acid concentration, Congestive heart failure, Arrhythmia, Cardiomeg... |
OMIM:266500 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
Alpha-Heavy Chain Disease |
|
Ascites, Hypocalcemia, Splenomegaly, Hepatomegaly |
ORPHA:100025 |
Macular Dystrophy With Central Cone Involvement |
|
Optic disc pallor, Bull's eye maculopathy, Macular dystrophy, Perifoveal ring of hyperautofluores... |
OMIM:616170 |
Amaurosis-Hypertrichosis Syndrome |
|
Cone/cone-rod dystrophy, Optic atrophy, Synophrys, Retinal dystrophy, Abnormal eyelash morphology... |
ORPHA:1021 |
Retinitis Pigmentosa 25 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:602772 |
Primary Lipodystrophy |
|
Cirrhosis, Pancreatitis, Hypertension, Congestive heart failure, Angina pectoris, Hepatic steatos... |
ORPHA:90970 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Ventricular hypertrophy, Rhabdomyolysis, Cardiac arrest, Elevated hepatic transamina... |
OMIM:212138 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Pulmonary arterial hypertension, Hypoperistalsis, Hypertension, Pulmonary artery dilatation, Atri... |
OMIM:613834 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia, Jaundice, Hypoxemia, Oligohydramnios, Hepatospleno... |
ORPHA:71275 |
Lymphangiectasia, Pulmonary, Congenital |
|
Polyhydramnios, Pedal edema, Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Pleural effus... |
OMIM:265300 |
Gorham-Stout Disease |
|
Pleural effusion, Edema, Torticollis, Rhinorrhea |
ORPHA:73 |
Wolcott-Rallison Syndrome |
|
Double outlet right ventricle, Abnormality of the liver, Exocrine pancreatic insufficiency, Hyper... |
ORPHA:1667 |
Wildervanck Syndrome |
|
Low posterior hairline, Lens subluxation, Pseudopapilledema, Facial palsy |
ORPHA:3456 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Flexion contracture, Choreoathetosis, Elevated hepatic transaminase, Hepatic steatosis, Hypertrop... |
ORPHA:17 |
Striatonigral Degeneration, Infantile |
|
Optic atrophy |
OMIM:271930 |
Norrie Disease |
|
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Retinal dysplasia, Buphthalmos, ... |
OMIM:310600 |
X-Linked Spinocerebellar Ataxia Type 3 |
|
Optic atrophy |
ORPHA:85297 |
Atypical Rett Syndrome |
|
Episodic tachypnea, Abnormal pattern of respiration, Tremor, Dystonia, Sudden episodic apnea, Pil... |
ORPHA:3095 |
Usher Syndrome, Type Iiib |
|
Optic disc pallor |
OMIM:614504 |
Diffuse Neonatal Hemangiomatosis |
|
Polyhydramnios, Hydrops fetalis, Hypercalcemia, Hepatomegaly, Ascites |
ORPHA:2123 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ventricular septal defect, Joint contracture of the hand, Lymphedema, Pericardial effusion, Pulmo... |
OMIM:235510 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory insufficiency, Abnormal pulmonary interstitial morphology, Cirrhosis, Slender build, ... |
OMIM:613658 |
Colchicine Poisoning |
|
Hypotension, Hypovolemia, Cardiogenic shock, Hypophosphatemia, Hypokalemia, Congestive heart fail... |
ORPHA:31824 |
Nocardiosis |
|
Endocarditis, Pneumothorax, Productive cough, Liver abscess, Pleuritis, Respiratory distress, Emp... |
ORPHA:31204 |
Congenital Disorder Of Glycosylation, Type Iaa |
|
Optic disc pallor, Hypertrichosis, Attenuation of retinal blood vessels |
OMIM:617082 |
Chédiak-Higashi Syndrome |
|
Recurrent respiratory infections, Pericardial effusion, Jaundice, Elevated hepatic transaminase, ... |
ORPHA:167 |
Joubert Syndrome 3 |
|
Neonatal breathing dysregulation, Episodic tachypnea, Atrial septal defect, Central apnea |
OMIM:608629 |
Pyruvate Dehydrogenase Deficiency |
|
Choreoathetosis, Tremor, Dyspnea, Dystonia, Tachypnea |
ORPHA:765 |
Naxos Disease |
|
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph... |
OMIM:601214 |
Cednik Syndrome |
|
Congestive heart failure |
ORPHA:66631 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Rod-cone dystrophy, Optic atrophy, Retinal degeneration, Macular degeneration, Cataract |
OMIM:204200 |
Rapidly Involuting Congenital Hemangioma |
|