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 |
|
Hepatic hemangioma, Congestive heart failure, Telangiectasia of the skin |
ORPHA:141184 |
Lymphedema-Distichiasis Syndrome |
|
Webbed neck, Ventricular septal defect, Lymphedema, Predominantly lower limb lymphedema, Nonimmun... |
OMIM:153400 |
Alstrom Syndrome |
|
Hyperuricemia, Chronic active hepatitis, Asthma, Elevated hepatic transaminase, Hypertension, Con... |
OMIM:203800 |
Wild Type Abeta2M Amyloidosis |
|
Abnormal tendon morphology, Abnormality of the thenar eminence, Macroglossia, Congestive heart fa... |
ORPHA:85446 |
Congenital Primary Aphakia |
|
Retinal dysplasia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Co... |
ORPHA:83461 |
Hellp Syndrome |
|
Hypotension, Cerebral hemorrhage, Pulmonary edema, Increased body weight, Elevated hepatic transa... |
ORPHA:244242 |
Spastic Paraplegia 82, Autosomal Recessive |
|
Optic atrophy |
OMIM:618770 |
Lymphangioleiomyomatosis |
|
Pneumothorax, Lymphedema, Chylopericardium, Emphysema, Restrictive ventilatory defect, Dyspnea, C... |
ORPHA:538 |
Alkuraya-Kucinskas Syndrome |
|
Webbed neck, Pericardial effusion, Camptodactyly, Pleural effusion, Edema, Arthrogryposis multipl... |
OMIM:617822 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia |
ORPHA:1068 |
Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
Joubert Syndrome 7 |
|
Neonatal breathing dysregulation, Episodic tachypnea, Tachypnea, Central apnea |
OMIM:611560 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Thin skin, Hepatic fibrosis, Elevated hepatic transaminase, Dilated cardiomyopathy, Congestive he... |
OMIM:615895 |
Methionine Malabsorption Syndrome |
|
Positive ferric chloride test, Tachypnea |
OMIM:250900 |
Merrf |
|
Optic atrophy |
ORPHA:551 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Coronary artery stenosis, Skeletal myopathy, Abnormality of the calf musculature, Abnormality of ... |
ORPHA:565612 |
Ovarian Fibroma |
|
Pleural effusion, Ascites, Mesenteric cyst, Peritonitis |
ORPHA:314473 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Optic atrophy, Aplasia/Hypoplasia of the macula, Hypopigmentation of h... |
ORPHA:33445 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Endocarditis, Abnormal pericardium morphology, Respiratory insufficiency, Abnormal pleura morphol... |
ORPHA:183 |
Autoimmune Hepatitis |
|
Increased total bilirubin, Spider hemangioma, Cirrhosis, Fulminant hepatitis, Sclerosing cholangi... |
ORPHA:2137 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory insufficiency, Ventricular hypertrophy, Microvesicular hepatic steatosis, Unconjugate... |
OMIM:618278 |
Hepatocellular Carcinoma |
|
Hypotension, Pedal edema, Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hemobilia, A... |
ORPHA:88673 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Optic atrophy, Decr... |
OMIM:609260 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Rod-cone dystrophy, Optic atrophy, Segmental peripheral demyelination/remye... |
OMIM:311070 |
Friedreich Ataxia |
|
Abnormal EKG, Decreased pyruvate carboxylase activity, Congestive heart failure, Mitochondrial ma... |
OMIM:229300 |
Niemann-Pick Disease, Type A |
|
Elevated circulating alanine aminotransferase concentration, Recurrent respiratory infections, Pr... |
OMIM:257200 |
Analbuminemia |
|
Hypotension, Elevated circulating transferrin concentration, Oligohydramnios, Edema, Increased LD... |
OMIM:616000 |
Gm1-Gangliosidosis, Type I |
|
Splenomegaly, Hydrops fetalis, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic car... |
OMIM:230500 |
Retinitis Pigmentosa 72 |
|
Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o... |
OMIM:616469 |
Glaucoma, Primary Closed-Angle |
|
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio |
OMIM:618880 |
Leber Hereditary Optic Neuropathy |
|
Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia |
ORPHA:104 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Achilles tendon contract... |
ORPHA:353 |
Behçet Disease |
|
Endocarditis, Pulmonary embolism, Cerebral ischemia, Pleuritis, Pancreatitis, Pericarditis, Myoca... |
ORPHA:117 |
Retinitis Pigmentosa 1 |
|
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... |
OMIM:180100 |
Gaucher Disease, Perinatal Lethal |
|
Polyhydramnios, Splenomegaly, Hepatic failure, Ascites, Nonimmune hydrops fetalis, Pulmonary hypo... |
OMIM:608013 |
Aggressive Systemic Mastocytosis |
|
Hypotension, Decreased liver function, Hypersplenism, Hepatosplenomegaly, Gastrointestinal hemorr... |
ORPHA:98850 |
Chylous Ascites |
|
Ascites, Pancreatitis, Lymphedema |
ORPHA:1160 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Polyhydramnios, Hepatic failure, Ventricular septal defect, Lymphedema, Pulmonary lymphangiectasi... |
OMIM:235255 |
Oculopalatocerebral Syndrome |
|
Leukocoria, Remnants of the hyaloid vascular system |
OMIM:257910 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depression, Congesti... |
ORPHA:90065 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Ventricular septal defect, Asthma, Atrial septal defect, Pulmonary artery stenosis, Increased nuc... |
ORPHA:79345 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Joubert Syndrome 23 |
|
Apnea, Tachypnea |
OMIM:616490 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Respiratory insufficiency, Elevated circulating acylcarnitine concentration, Hepatic... |
ORPHA:159 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Cataract, Sensory axonal neuropathy, Optic atrophy |
ORPHA:329314 |
Sclerosing Cholangitis, Neonatal |
|
Biliary cirrhosis, Cirrhosis, Hepatic failure, Ductal bile plugs, Sclerosing cholangitis, Jaundic... |
OMIM:617394 |
Mucopolysaccharidosis, Type Ii |
|
Tracheobronchomalacia, Flexion contracture, Splenomegaly, Asthma, Congestive heart failure, Macro... |
OMIM:309900 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy |
OMIM:300928 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Abnormal left ventricular outflow tract morphology, Premature atr... |
ORPHA:216694 |
Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Chronic... |
ORPHA:98908 |
Retinitis Pigmentosa 43 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... |
OMIM:613810 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, A... |
ORPHA:354 |
Retinitis Pigmentosa 14 |
|
Retinal arteriolar constriction, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Pos... |
OMIM:600132 |
Congenital Factor X Deficiency |
|
Prolonged bleeding after surgery, Hemoperitoneum, Post-partum hemorrhage, Antepartum hemorrhage, ... |
ORPHA:328 |
Juvenile Glaucoma |
|
Temporal optic disc pallor, Increased cup-to-disc ratio, Retinal arterial occlusion, Optic neurop... |
ORPHA:98977 |
Exercise-Induced Malignant Hyperthermia |
|
Hypotension, Abnormal T-wave, Hyperphosphatemia, Hypocapnia, Hepatic failure, Rhabdomyolysis, Sin... |
ORPHA:466650 |
Fabry Disease |
|
Respiratory insufficiency, Abnormal circulating lipid concentration, Achalasia, Angina pectoris, ... |
ORPHA:324 |
Mitochondrial Complex I Deficiency, Nuclear Type 34 |
|
Optic disc pallor, Optic atrophy |
OMIM:618776 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Aortic valve atresia, Mitral atresia, Microvesicular hepatic steatosis, Pulmonary edema, Bicuspid... |
OMIM:220111 |
Reynolds Syndrome |
|
Respiratory insufficiency, Cirrhosis, Mucosal telangiectasiae, Jaundice, Xerostomia, Hepatomegaly... |
ORPHA:779 |
Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Tyrosinemia, Type I |
|
Hypermethioninemia, Cirrhosis, Hepatic failure, Hepatocellular carcinoma, Elevated hepatic transa... |
OMIM:276700 |
Mucopolysaccharidosis-Plus Syndrome |
|
Flexion contracture, Recurrent bronchopulmonary infections, Congestive heart failure, Atrial sept... |
OMIM:617303 |
Caroli Disease |
|
Biliary cirrhosis, Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration,... |
ORPHA:53035 |
Aneurysm Of Sinus Of Valsalva |
|
Bacterial endocarditis, Heart murmur, Congestive heart failure, Aortic regurgitation, Edema, Dysp... |
ORPHA:1054 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
Joubert Syndrome 30 |
|
Apnea, Tachypnea |
OMIM:617622 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Obesity, Tremor, Congestive heart failure, Resting tremor |
ORPHA:3077 |
Bronchial Neuroendocrine Tumor |
|
Hypotension, Abnormal pulmonary interstitial morphology, Hepatic failure, Facial telangiectasia, ... |
ORPHA:97287 |
Immunodeficiency 22 |
|
Pericarditis, Recurrent upper respiratory tract infections, Capillary leak, Ascites, Recurrent lo... |
OMIM:615758 |
Coloboma, Ocular, Autosomal Recessive |
|
Lens subluxation, Iris coloboma, Cataract, Optic disc coloboma, Retinal coloboma |
OMIM:216820 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Contractures of the large joints, Abnormal atrioventricular valve morphology, Mitra... |
ORPHA:324410 |
Classic Galactosemia |
|
Hepatic failure, Postural tremor, Jaundice, Elevated hepatic transaminase, Action tremor, Hepatom... |
ORPHA:79239 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Increased total bilirubin, Splenomegaly, Exertional dyspnea, Congestive heart failure, Tachycardia |
ORPHA:90037 |
Leigh Syndrome With Cardiomyopathy |
|
Decreased liver function, Congestive heart failure, Dilated cardiomyopathy, Respiratory distress,... |
ORPHA:70474 |
Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Jaundice, Congestive heart failure, Respiratory distress, Oligohydramn... |
OMIM:615512 |
Snakebite Envenomation |
|
Hypotension, Rhabdomyolysis, Cerebral ischemia, Respiratory paralysis, Cardiogenic shock, Intracr... |
ORPHA:449285 |
Zygomycosis |
|
Endocarditis, Acute infectious pneumonia, Pneumothorax, Hepatitis, Splenic abscess, Pericarditis,... |
ORPHA:73263 |
Cardiac Diverticulum |
|
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... |
ORPHA:1686 |
Brucellosis |
|
Endocarditis, Bronchitis, Pulmonary granulomatosis, Abnormality of the liver, Transient ischemic ... |
ORPHA:1304 |
Infection-Related Hemolytic Uremic Syndrome |
|
Respiratory tract infection, Pleural empyema, Pleuritis, Hyperkalemia, Hypertension, Hypertensive... |
ORPHA:544482 |
Non-Functioning Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:94080 |
Pseudoxanthoma Elasticum |
|
Retinal hemorrhage, Restrictive cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Intermitt... |
OMIM:264800 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Biliary cirrhosis, Hepatic fibrosis, Cirrhosis, Hepatic... |
ORPHA:186 |
Ring Chromosome 22 Syndrome |
|
Pleural effusion, Edema, Azoospermia, Lymphedema |
ORPHA:1446 |
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome |
|
Optic atrophy |
ORPHA:2787 |
Budd-Chiari Syndrome |
|
Cirrhosis, Jaundice, Peritonitis, Elevated hepatic transaminase, Cholecystitis, Gastrointestinal ... |
ORPHA:131 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Flexion contracture, Choreoathetosis, Congestive heart failure, Respiratory distr... |
OMIM:616271 |
Meige Disease |
|
Pedal edema, Lymphedema, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Pleur... |
ORPHA:90186 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... |
OMIM:613270 |
Pyruvate Carboxylase Deficiency |
|
Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Tachypnea, Dehydration, Neona... |
ORPHA:3008 |
Sarcoidosis, Susceptibility To, 1 |
|
Pulmonary arterial hypertension, Abnormal pulmonary interstitial morphology, Bronchiectasis, Peri... |
OMIM:181000 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... |
OMIM:602347 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Intraalveolar phospholipid accumulation, Reduced forced vital capacity, Restrictive ventilatory d... |
OMIM:300770 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pulmonary hemorrhage, Recurrent aspiration pneumonia, Jaundice, Elevated hepatic transaminase, He... |
ORPHA:79124 |
Joubert Syndrome 9 |
|
Apnea, Hepatic fibrosis, Episodic tachypnea |
OMIM:612285 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, Elevated circulating alanine aminotran... |
OMIM:256810 |
Pediatric-Onset Graves Disease |
|
Sinus tachycardia, Jaundice, Elevated hepatic transaminase, Hypertension, Congestive heart failur... |
ORPHA:525731 |
Mucolipidosis Iv |
|
Retinal degeneration, Opacification of the corneal stroma, Corneal opacity, Optic atrophy |
OMIM:252650 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Optic atrophy, Facial palsy |
ORPHA:178377 |
Leigh Syndrome |
|
Hepatic failure, Hyperalaninemia, Respiratory failure, Ventricular septal defect, Multiple joint ... |
ORPHA:506 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Intrauterine growth retardation, Increased mitocho... |
OMIM:615578 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... |
OMIM:171420 |
Crimean-Congo Hemorrhagic Fever |
|
Hypotension, Hemoperitoneum, Pericardial effusion, Elevated circulating creatine kinase concentra... |
ORPHA:99827 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Hypophosph... |
OMIM:208000 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Respiratory insufficiency, Elevated circulating alanine aminotransferase concentration, Perimembr... |
OMIM:608779 |
Alg8-Cdg |
|
Hydrops fetalis, Camptodactyly, Macroglossia, Elevated hepatic transaminase, Oligohydramnios, Ede... |
ORPHA:79325 |
Retinitis Pigmentosa 60 |
|
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... |
OMIM:613983 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Optic disc pallor, Retinal thinning |
OMIM:618970 |
Ovarian Fibrothecoma |
|
Pleural effusion, Ascites, Peritonitis |
ORPHA:314478 |
Retinitis Pigmentosa 66 |
|
Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation ... |
OMIM:615233 |
Retinitis Pigmentosa 12 |
|
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... |
OMIM:600105 |
Atrioventricular septal defect 3 |
|
Pulmonary arterial hypertension, Midsystolic murmur, Hypertension, Congestive heart failure, Firs... |
OMIM:600309 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Polyhydramnios, Hepatic failure, Ventricular septal defect, Pulmonary lymphangiectasia, Hepatospl... |
ORPHA:1655 |
Ovarian Hyperstimulation Syndrome |
|
Ascites |
OMIM:608115 |
Coccidioidomycosis |
|
Abnormality of the liver, Pleural empyema, Cerebral ischemia, Peritonitis, Exudative pleural effu... |
ORPHA:228123 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Pulmonary hypoplasia, Hepatosplenomegaly, Hepatoblastoma, Hyponatremia, Spont... |
ORPHA:731 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Impaired myocardial contractility, Respiratory paralysis, Abnormal muscle f... |
ORPHA:681 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Optic atrophy, Decreased nerve conduction velocity |
ORPHA:98890 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Optic atrophy |
OMIM:619052 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Respiratory insufficiency, Centrally nucleated skeletal muscle fibers, Reduced forced vital capac... |
OMIM:619518 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Atrioventricular canal defect, Polyhydramnios, Biliary cirrhosis, Unbalanced atrioventricular can... |
OMIM:619534 |
Pseudomyxoma Peritonei |
|
Respiratory insufficiency, Ascites, Abnormality of the peritoneum |
ORPHA:26790 |
Aceruloplasminemia |
|
Hepatic fibrosis, Blepharospasm, Cirrhosis, Aceruloplasminemia, Decreased circulating ceruloplasm... |
ORPHA:48818 |
Leber Congenital Amaurosis 14 |
|
Rod-cone dystrophy, Retinal dystrophy, Optic disc pallor |
OMIM:613341 |
Anterior Segment Dysgenesis 2 |
|
Coloboma, Posterior synechiae of the anterior chamber, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Joubert Syndrome |
|
Episodic tachypnea, Apnea, Abnormal pattern of respiration, Tremor, Situs inversus totalis |
ORPHA:475 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea |
ORPHA:163961 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Thin skin, Ventricular arrhythmia, Supraventricular arrhythmia, Pancreatitis, Congestive heart fa... |
ORPHA:280365 |
Familial Mediterranean Fever |
|
Pedal edema, Pleuritis, Peritonitis, Pancreatitis, Pericarditis, Myocardial infarction, Arrhythmi... |
ORPHA:342 |
Chronic Pneumonitis Of Infancy |
|
Intercostal retractions, Hypoxemia, Reduced forced vital capacity, Respiratory distress, Cough, H... |
ORPHA:91359 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Wilson Disease |
|
Pedal edema, Limb dystonia, Decreased circulating ceruloplasmin concentration, Hepatocellular car... |
OMIM:277900 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex III, Decreased activity of mitochondrial complex IV, ... |
OMIM:500013 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Pulmonary arterial hypertension, Anomalous origin of left pulmonary artery from ascending aorta, ... |
ORPHA:99050 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Respiratory distress, Tachypnea |
ORPHA:79242 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Pleural effusion, Edema, Action tremor, Anasarca, Intention tremor, Hypoalbuminemia |
OMIM:254900 |
Griscelli Syndrome |
|
Pedal edema, Abnormal circulating lipid concentration, Hepatitis, Jaundice, Hepatomegaly, Ascites... |
ORPHA:381 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Macroglossia, At... |
ORPHA:453499 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Polyhydramnios, Webbed neck, Lymphedema, Bicuspid aortic valve, Hepatosplenomegaly, Mitral regurg... |
OMIM:613563 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Pulmonary arterial hypertension, Patent foramen ovale, Flexion contracture, Recurrent respiratory... |
ORPHA:505248 |
Legionnaires Disease |
|
Hypotension, Endocarditis, Respiratory insufficiency, Abnormal pleura morphology, Hepatitis, Jaun... |
ORPHA:549 |
Eales Disease |
|
Iris neovascularization, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, V... |
ORPHA:40923 |
Arterial Tortuosity Syndrome |
|
Thin skin, Cardiac arrest, Congestive heart failure, Hypertension, Dilated cardiomyopathy, Respir... |
ORPHA:3342 |
Farber Disease |
|
Respiratory insufficiency, Hepatic fibrosis, Flexion contracture, Hydrops fetalis, Nodular patter... |
ORPHA:333 |
Liver Disease, Severe Congenital |
|
Subvalvular aortic stenosis, Systolic heart murmur, Elevated hepatic transaminase, Portal inflamm... |
OMIM:619991 |
Kikuchi-Fujimoto Disease |
|
Abnormal pulmonary interstitial morphology, Elevated hepatic transaminase, Vasculitis in the skin... |
ORPHA:50918 |
Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Flexion contracture, Congestive heart failure, Hypertensive cris... |
ORPHA:220393 |
Autoimmune Hemolytic Anemia |
|
Splenomegaly, Dyspnea, Congestive heart failure, Arrhythmia |
ORPHA:98375 |
Paramyotonia Congenita Of Von Eulenburg |
|
Abnormal blood potassium concentration, Myotonia of the face, Facial muscle hypertrophy, Myotonia... |
ORPHA:684 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Hypertension, Intracranial hemorrhage, Congestive heart failure, Abnorma... |
ORPHA:363618 |
Mucopolysaccharidosis Type 1 |
|
Splenomegaly, Abnormal tendon morphology, Abnormal aortic valve morphology, Congestive heart fail... |
ORPHA:579 |
Osteogenesis Imperfecta, Type Ii |
|
Respiratory insufficiency, Thin skin, Pulmonary insufficiency, Nonimmune hydrops fetalis, Congest... |
OMIM:166210 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal guttata, Corneal dystrophy |
OMIM:610158 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Abnormality of mitochondrial metabolism, Tremor, Hypertension, Abnormal mitral valve morphology |
ORPHA:1192 |
Late-Onset Retinal Degeneration |
|
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Peripa... |
ORPHA:67042 |
Senior-Boichis Syndrome |
|
Increased total bilirubin, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hypertensi... |
ORPHA:84081 |
Lysosomal Acid Lipase Deficiency |
|
Hypotension, Pulmonary arterial hypertension, Hepatic fibrosis, Hepatic failure, Microvesicular h... |
ORPHA:275761 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Partial atrioventricular canal defect, Ventricular septal defect, Bicuspid aortic valve, Secundum... |
OMIM:620066 |
Lymphoproliferative Syndrome 2 |
|
Hepatosplenomegaly, Recurrent pneumonia, Hepatomegaly, Ascites, Splenomegaly |
OMIM:615122 |
Retinitis Pigmentosa 58 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:613617 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Retinal arteriolar constriction, Optic atrophy |
OMIM:249660 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Polyhydramnios, Abnormal cardiac septum morphology, Bundle branch block, Myotonia, Facial hypoton... |
ORPHA:589821 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Patent foramen ovale, Aspiration pneumonia, Left ventricular hypertrophy, Dilated cardiomyopathy,... |
OMIM:619167 |
Hutchinson-Gilford Progeria Syndrome |
|
Myocardial infarction, Angina pectoris, Congestive heart failure |
OMIM:176670 |
Peripheral Primitive Neuroectodermal Tumor |
|
Pelvic mass, Lower limb muscle weakness, Torticollis, Neoplasm of the pancreas, Jaundice, Elevate... |
ORPHA:370348 |
Retinitis Pigmentosa 49 |
|
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... |
OMIM:613756 |
Sarcoidosis |
|
Pneumothorax, Bronchiectasis, Heart block, Pleural effusion, Hepatomegaly, Decreased liver functi... |
ORPHA:797 |
Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu... |
OMIM:604116 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Lower limb ... |
ORPHA:397744 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure |
OMIM:260450 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypophosphatemia, Dyspnea, Hypercalcemia, Hepatomegaly, Splenomegaly, Tachypnea |
OMIM:239200 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Double outlet right ventricle, Pulmonary insufficiency, Heart murmur, Dilated cardiomyopathy, Con... |
ORPHA:2326 |
Xfe Progeroid Syndrome |
|
Ascites, Elevated hepatic transaminase, Hypertension, Hypoalbuminemia |
OMIM:610965 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormality of the pancreas, Hyperbilirubinemia, Jaundice, Elevated hepatic transaminase, Cholecy... |
ORPHA:69665 |
Zebra Body Myopathy |
|
Muscle fiber splitting, Autophagic vacuoles, Torticollis, Elevated circulating creatine kinase co... |
ORPHA:97240 |
Cone-Rod Dystrophy 20 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy |
OMIM:615973 |
Retinitis Pigmentosa 41 |
|
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... |
OMIM:612095 |
Malignant Peritoneal Mesothelioma |
|
Pedal edema, Ascites, Dyspnea, Peritonitis |
ORPHA:168811 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Hypocalcemic tetany, Pulmonary edema, Pericardial effusion, Dilated cardiom... |
ORPHA:73224 |
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome |
|
Retrobulbar optic neuritis, Optic atrophy |
ORPHA:3151 |
Fusariosis |
|
Abnormality of the liver, Bronchiectasis, Productive cough, Peritonitis, Lung abscess, Myositis, ... |
ORPHA:228119 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Retinal fold, Optic atrophy, Microcornea, Astigmatism, Cataract, Corneal opacity, Chorioretinal d... |
OMIM:152950 |
Simple Cryoglobulinemia |
|
Raynaud phenomenon, Congestive heart failure, Hypertension, Pericarditis, Myocardial infarction, ... |
ORPHA:91139 |
Mosaic Variegated Aneuploidy Syndrome |
|
Subvalvular aortic stenosis, Polyhydramnios, Muscular dystrophy, Abnormal lung lobation, Atrial s... |
ORPHA:1052 |
Adult Acute Respiratory Distress Syndrome |
|
Hypotension, Pulmonary edema, Hypoxemia, Shock, Dyspnea, Abnormal blood gas level, Respiratory fa... |
ORPHA:70578 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Respiratory insufficiency, Flexion contracture, Proximal lower limb amyotrophy, Myotonia, Muscle ... |
OMIM:310440 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Respiratory insufficiency, Ventricular arrhythmia, Elevated hepatic transaminase, Elevated circul... |
ORPHA:254892 |
Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Optic disc pallor, Optic atrophy |
OMIM:612989 |
Nipah Virus Disease |
|
Hypotension, Recurrent pharyngitis, Respiratory distress, Tremor, Cough |
ORPHA:99825 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Congestive heart failure, Increased hepatic glycogen content, Cardiomegaly, Limb muscle weakness,... |
OMIM:619259 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, El... |
OMIM:615595 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Elevated circulating alanine aminotransferase concentration, Hypertensio... |
OMIM:617253 |
Retinitis Pigmentosa |
|
Optic atrophy, Abnormality of retinal pigmentation, Cataract, Keratoconus, Abnormal retinal vascu... |
ORPHA:791 |
Cardiomyopathy, Familial Restrictive, 3 |
|
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s... |
OMIM:612422 |
Hennekam Syndrome |
|
Camptodactyly of finger, Respiratory insufficiency, Hydrops fetalis, Lymphedema, Pericardial effu... |
ORPHA:2136 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Polyhydramnios, Type 2 muscle fiber predominance, Type 1 muscle fiber atrophy, Type 2 muscle fibe... |
OMIM:619036 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy |
OMIM:615434 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hepatosplenomegaly, Pleural effusion, Recurrent pneumonia, Acute pancreatitis, Pulmonary fibrosis... |
OMIM:618935 |
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium |
|
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy |
ORPHA:440727 |
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type) |
|
Peripheral axonal neuropathy, Optic atrophy |
OMIM:619425 |
Herpes Simplex Virus Stromal Keratitis |
|
Herpetiform corneal ulceration, Descemet Membrane Folds, Corneal stromal edema, Deep anterior cha... |
ORPHA:137599 |
Aorta Coarctation |
|
Pulmonary arterial hypertension, Aortic valve atresia, Perimembranous ventricular septal defect, ... |
ORPHA:1457 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
Scrub Typhus |
|
Hypotension, Tremor, Dyspnea, Restrictive ventilatory defect, Cough, Myocarditis, Splenomegaly |
ORPHA:83317 |
Laubry-Pezzi Syndrome |
|
Elevated pulmonary artery pressure, Patent foramen ovale, Right ventricular outlet tract obstruct... |
ORPHA:99094 |
Wildervanck Syndrome |
|
Pseudopapilledema |
OMIM:314600 |
Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... |
ORPHA:364055 |
Congenital Hydrocephalus |
|
Macular hypoplasia, Iris coloboma, Optic atrophy |
ORPHA:2185 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hyperalaninemia, Hypoornithinemia, Jaundice, Tachypnea, Hyperammonemia, Hyperprolinemia, Hypernat... |
OMIM:615751 |
Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure, Abnormal abdomen morphology |
OMIM:275000 |
Myotonic Dystrophy 1 |
|
Polyhydramnios, Myotonia, Respiratory distress, Facial diplegia, Atrial flutter, First degree atr... |
OMIM:160900 |
Srd5A3-Cdg |
|
Rod-cone dystrophy, Coloboma, Optic atrophy, Optic disc hypoplasia, Cataract, Abnormal hair morph... |
ORPHA:324737 |
Cryptococcosis |
|
Cerebral edema, Cirrhosis, Nodular pattern on pulmonary HRCT, Respiratory distress, Pleural effus... |
ORPHA:1546 |
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive |
|
Astigmatism, Optic atrophy |
OMIM:248000 |
Chromosome 18Q Deletion Syndrome |
|
Absence of the pulmonary valve, Ventricular septal defect, Dysplastic aortic valve, Asthma, Conge... |
OMIM:601808 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased liver function, Hypertension, Congestive heart failure, Hepatosplenomegaly, Oligospermi... |
ORPHA:85450 |
Abetalipoproteinemia |
|
Hepatic fibrosis, Decreased LDL cholesterol concentration, Respiratory failure, Cirrhosis, Hyperb... |
ORPHA:14 |
Neuroendocrine Tumor Of The Colon |
|
Hypotension, Facial telangiectasia, Tricuspid regurgitation, Elevated hepatic transaminase, Abnor... |
ORPHA:100080 |
Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea |
OMIM:217300 |
Whipple Disease |
|
Hypotension, Respiratory insufficiency, Pedal edema, Pleuritis, Pericarditis, Myocardial infarcti... |
ORPHA:3452 |
Spinocerebellar Ataxia 7 |
|
Macular degeneration, Pigmentary retinopathy, Optic atrophy |
OMIM:164500 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Exertional dyspnea, Jaundice, Congestive heart failure, Tachycardia |
ORPHA:90033 |
Microscopic Polyangiitis |
|
Congestive heart failure, Pericarditis, Epistaxis, Sinusitis, Gastrointestinal hemorrhage, Arrhyt... |
ORPHA:727 |
Null Syndrome |
|
Abnormality of peripheral nerve conduction, Peripheral demyelination, Optic atrophy, Decreased ne... |
ORPHA:280234 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Decreased muscle mass, Wrist drop, Muscle fiber atrophy, Mitral valve prolapse, Elbow flexion con... |
ORPHA:1900 |
Lipodystrophy, Familial Partial, Type 7 |
|
Pulmonary arterial hypertension, Thin skin, Recurrent pancreatitis, Lower limb muscle weakness, P... |
OMIM:606721 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials, Optic atrophy |
OMIM:616648 |
Biotinidase Deficiency |
|
Apnea, Hyperammonemia, Hepatomegaly, Splenomegaly, Tachypnea |
OMIM:253260 |
Granulomatous Disease, Chronic, X-Linked |
|
Deficiency or absence of cytochrome b(-245), Liver abscess, Pleural effusion, Recurrent pneumonia... |
OMIM:306400 |
Arima Syndrome |
|
Hepatic fibrosis, Cirrhosis, Hypertension, Hepatic steatosis, Dyspnea, Hepatomegaly, Tachypnea |
OMIM:243910 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Rod-cone dystrophy, Optic atrophy, Cataract, Decreased nerve conduction velocity, Subcapsular cat... |
OMIM:612674 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Patent foramen ovale, Morgagni diaphragmatic hernia, Pulmonary hypoplasia, Emphysema, Recurrent p... |
OMIM:613177 |
Tetrasomy 5P |
|
Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, Heart murm... |
ORPHA:3309 |
Short-Rib Thoracic Dysplasia 12 |
|
Respiratory insufficiency, Patent foramen ovale, Polyhydramnios, Ventricular septal defect, Perip... |
OMIM:269860 |
Idiopathic Anterior Uveitis |
|
Macular edema, Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nucle... |
ORPHA:280914 |
Myotonic Dystrophy 2 |
|
Right bundle branch block, Generalized amyotrophy, Myotonia, Handgrip myotonia, Elevated circulat... |
OMIM:602668 |
Dominant Beta-Thalassemia |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Jaundice, Hepatocell... |
ORPHA:231226 |
Joubert Syndrome 28 |
|
Optic disc pallor, Highly arched eyebrow, Pigmentary retinopathy |
OMIM:617121 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatic failure, Flexion contracture, Aspiration pneumonia, Generalized amyotrophy, Postural trem... |
OMIM:301072 |
Radio-Renal Syndrome |
|
Respiratory distress, Pleural effusion, Dyspnea, Chylothorax, Respiratory failure |
ORPHA:3015 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Cataract, Optic disc pallor |
ORPHA:3173 |
Myotonia, Potassium-Aggravated |
|
Apneic episodes in infancy, Myotonia, Elevated circulating creatine kinase concentration, Skeleta... |
OMIM:608390 |
Lujo Hemorrhagic Fever |
|
Hypotension, Cerebral edema, Rhinitis, Resting tremor, Fulminant hepatitis, Facial edema, Elevate... |
ORPHA:319213 |
Generalized Arterial Calcification Of Infancy |
|
Pulmonary arterial hypertension, Retinal hemorrhage, Ventricular hypertrophy, Polyhydramnios, Hyd... |
ORPHA:51608 |
Mucopolysaccharidosis Type 7 |
|
Abnormal pleura morphology, Hydrops fetalis, Lymphedema, Hepatitis, Ascites, Recurrent respirator... |
ORPHA:584 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Abnormality of the mitochondrion, Tremor, Skeletal muscle atrophy, Dystonia |
ORPHA:330050 |
Zika Virus Disease |
|
Conjunctivitis, Retinal pigment epithelial mottling, Abnormal optic disc morphology, Macular atro... |
ORPHA:448237 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
Aarskog-Scott Syndrome |
|
Camptodactyly of finger, Congestive heart failure |
ORPHA:915 |
Retinal Dystrophy And Microvillus Inclusion Disease |
|
Optic disc pallor |
OMIM:619446 |
Carney Triad |
|
Hypertension, Gastrointestinal hemorrhage, Arrhythmia, Ascites, Leiomyosarcoma, Tachycardia |
ORPHA:139411 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Tremor, Abnormal heart morphology, Episodic tachypnea |
ORPHA:2754 |
Wolman Disease |
|
Hepatic failure, Ascites, Splenomegaly, Hepatomegaly |
ORPHA:75233 |
Opticocochleodentate Degeneration |
|
Optic atrophy |
OMIM:258700 |
Corneal Dystrophy, Posterior Amorphous |
|
Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Cutis Laxa, Autosomal Dominant 1 |
|
Ventricular septal defect, Bronchiectasis, Congestive heart failure, Emphysema, Aortic regurgitat... |
OMIM:123700 |
Kawasaki Disease |
|
Abnormal pulmonary interstitial morphology, Hepatitis, Jaundice, Double outlet right ventricle wi... |
ORPHA:2331 |
Leukodystrophy, Hypomyelinating, 22 |
|
Astigmatism, Optic disc pallor |
OMIM:619328 |
Neuroendocrine Tumor Of The Rectum |
|
Hypotension, Facial telangiectasia, Elevated hepatic transaminase, Abnormal pulmonary valve cusp ... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hypotension, Facial telangiectasia, Elevated hepatic transaminase, Abnormal pulmonary valve cusp ... |
ORPHA:100082 |
Monosomy 18Q |
|
Absence of the pulmonary valve, Left-to-right shunt, Secundum atrial septal defect, Choreoathetos... |
ORPHA:1600 |
Vipoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Hypokalemia, Neoplasm of the pancreas, Neoplasm ... |
ORPHA:97282 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Martsolf Syndrome 1 |
|
Cardiac arrest, Congestive heart failure, Tracheomalacia, Recurrent respiratory infections, Cardi... |
OMIM:212720 |
Mercury Poisoning |
|
Hypotension, Interstitial pneumonitis, Hypokalemia, Hypertension, Respiratory distress, Tremor, D... |
ORPHA:330021 |
Granular Corneal Dystrophy Type I |
|
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... |
ORPHA:98962 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Abnormality of the peritoneum, Hepatomegaly, Ascites, Neoplasm of the lung |
ORPHA:83469 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Episodic respiratory distress, Abnormality of Krebs cycle metabolism, Hyperalaninemia, Hepatic fa... |
ORPHA:255210 |
Cutaneous Mastocytoma |
|
Hypotension, Telangiectasia macularis eruptiva perstans, Peau d'orange, Dyspnea, Telangiectasia o... |
ORPHA:79455 |
Multiple Myeloma |
|
Pleural effusion, Hypercalcemia, Tall stature, Elevated circulating creatinine concentration, Hyp... |
ORPHA:29073 |
Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Camptodactyly of finger, Peroneal muscle atrophy, Weakness of long finger extensor muscles, Flexi... |
ORPHA:324442 |
Joubert Syndrome With Oculorenal Defect |
|
Apnea, Tachypnea |
ORPHA:2318 |
Sick Sinus Syndrome 2 |
|
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Mitral valve prolapse, Syncope, Left ve... |
OMIM:163800 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent aspiration pneumonia, Elevated hepatic transaminase, Apnea, Chronic lung disease, Recur... |
ORPHA:397715 |
Beta-Thalassemia Major |
|
Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Hypersplenism, Jaundice, Hepatocell... |
ORPHA:231214 |
Singleton-Merten Syndrome 1 |
|
Subvalvular aortic stenosis, Cardiomegaly, Muscle fiber atrophy, Congestive heart failure, Tendon... |
OMIM:182250 |
Retinitis Pigmentosa 74 |
|
Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy, Posterior polar cataract |
OMIM:616562 |
Acquired Idiopathic Sideroblastic Anemia |
|
Splenomegaly, Congestive heart failure, Hepatomegaly |
ORPHA:75564 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... |
ORPHA:171673 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Hyperventilation, Tachypnea |
OMIM:253270 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension, Hyperkalemia, Increased circulating renin level, Dehydration, Hyponatremia |
OMIM:203400 |
Mucolipidosis Ii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Splenomegaly, Diastasis recti, Heart murmur, Recurrent bronc... |
OMIM:252500 |
Ppoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Abnormal abdomen morph... |
ORPHA:97278 |
Listeriosis |
|
Endocarditis, Rhabdomyolysis, Hepatic granulomatosis, Liver abscess, Jaundice, Congestive heart f... |
ORPHA:533 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:276621 |
Hereditary Hemorrhagic Telangiectasia |
|
Pulmonary arterial hypertension, Pulmonary embolism, Cirrhosis, Hepatic failure, Mucosal telangie... |
ORPHA:774 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatic failure, Limb hypertonia, Hyperbilirubinemia, Hepatosplenomegaly, Hepatomegaly, Respirato... |
OMIM:259720 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... |
ORPHA:293603 |
Grfoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Abnormal abdomen morph... |
ORPHA:97261 |
Developmental And Epileptic Encephalopathy 93 |
|
Iris coloboma, Optic atrophy |
OMIM:618012 |
X-Linked Intellectual Disability, Najm Type |
|
Cataract, Chorioretinal coloboma, Optic atrophy, Optic nerve hypoplasia |
ORPHA:163937 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract |
OMIM:619649 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Polyhydramnios, Hydrops fetalis, Fetal ascites, Hepatomegaly, Splenomegaly |
OMIM:619462 |
Werner Syndrome |
|
Hypertension, Congestive heart failure, Myocardial infarction, Skeletal muscle atrophy, Pulmonary... |
ORPHA:902 |
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency |
|
Tachypnea |
OMIM:245050 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Rod-cone dystrophy, Peripheral demyelination, Optic atrophy, Bone spicule pigmentation of the ret... |
OMIM:609033 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormal auditory evoked potentials, Long eyelashes, Astigmatism, Low posterior hairline, Optic d... |
OMIM:617523 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis, Ascites, Hydrops fetalis, Pulmonary hypoplasia |
OMIM:614091 |
Carney Complex, Type 1 |
|
Cardiac myxoma, Congestive heart failure |
OMIM:160980 |
Jalili Syndrome |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule pigme... |
OMIM:217080 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Respiratory insufficiency, Dilatation of the ventricular cavity, Abnormal cardiac ventricular fun... |
ORPHA:90349 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Trichorrhexis nodosa, Optic atrophy, Brittle hair, Keratoconjunctivitis sicca, Microcornea, Wooll... |
OMIM:234050 |
Woods Syndrome |
|
Frontal hirsutism, Supernumerary nipple, Optic atrophy |
OMIM:615236 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Cataract, Optic disc pallor |
OMIM:613730 |
Niemann-Pick Disease Type C |
|
Respiratory insufficiency, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis,... |
ORPHA:646 |
Schimke Immuno-Osseous Dysplasia |
|
Pulmonary arterial hypertension, Ischemic stroke, Cerebral ischemia, Transient ischemic attack, C... |
ORPHA:1830 |
Autosomal Dominant Hypocalcemia |
|
Hypotension, Hyperphosphatemia, Writer's cramp, Congestive heart failure, Abnormal pattern of res... |
ORPHA:428 |
Leber Optic Atrophy |
|
Optic neuropathy, Central retinal vessel vascular tortuosity, Leber optic atrophy, Optic atrophy |
OMIM:535000 |
Chromosome 5Q12 Deletion Syndrome |
|
Hypotension, Disproportionate tall stature |
OMIM:615668 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Lymphedema, Atrial septal defect, Pleural effusion, Edema, Chylothorax |
ORPHA:2526 |
Somatostatinoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Abnormal abdomen morph... |
ORPHA:97283 |
Aa Amyloidosis |
|
Hypotension, Cholestasis, Abnormal heart morphology, Hepatomegaly |
ORPHA:85445 |
Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Angioosteohypertrophic Syndrome |
|
Pulmonary embolism, Lymphedema, Congestive heart failure, Gastrointestinal hemorrhage, Telangiect... |
ORPHA:2346 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... |
OMIM:614195 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatic failure, Hepatitis, Elevated hepatic transaminase, Hyperammonemia, Hepatomegaly, Hyperorn... |
ORPHA:415 |
Long Qt Syndrome 15 |
|
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Left ventricula... |
OMIM:616249 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Right bundle branch block, Pneumothorax, Hypoplastic right heart, Camptodactyly, Congestive heart... |
OMIM:617403 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hypotension, Hyperphosphatemia, Rhabdomyolysis, Hyperkalemia, Elevated circulating creatine kinas... |
OMIM:145600 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension, Hyperkalemia, Dehydration, Hyponatremia, Recurrent respiratory infections |
OMIM:264350 |
Goodpasture Syndrome |
|
Pulmonary hemorrhage, Bloody bronchoalveolar lavage fluid, Nodular pattern on pulmonary HRCT, Exe... |
OMIM:233450 |
Vici Syndrome |
|
Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Atrial septal def... |
OMIM:242840 |
Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
Perry Syndrome |
|
Hypotension, Tremor, Central hypoventilation |
ORPHA:178509 |
Mitochondrial Complex I Deficiency, Nuclear Type 27 |
|
Optic atrophy |
OMIM:618248 |
Early-Onset Familial Hypoaldosteronism |
|
Hypotension, Hyperkalemia, Increased circulating renin level, Dehydration, Hyponatremia, Orthosta... |
ORPHA:556030 |
Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edema, Astigmatism, Co... |
ORPHA:137596 |
Spinal Arteriovenous Metameric Syndrome |
|
Congestive heart failure |
ORPHA:53721 |
Pierson Syndrome |
|
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... |
OMIM:609049 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Hyperbilirubinemia, Acholic stools, C... |
OMIM:615710 |
Triple A Syndrome |
|
Iris coloboma, Optic atrophy, Motor axonal neuropathy |
ORPHA:869 |
Neuroendocrine Tumor Of Stomach |
|
Hypotension, Hepatic failure, Facial telangiectasia, Cardiogenic shock, Elevated hepatic transami... |
ORPHA:100075 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension, Hyperkalemia, Increased circulating renin level, Dehydration, Hyponatremia |
OMIM:620125 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Congestive heart failure |
ORPHA:137608 |
Beta-Thalassemia Intermedia |
|
Pulmonary arterial hypertension, Cholelithiasis, Cirrhosis, Abnormality of iron homeostasis, Abno... |
ORPHA:231222 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Retinal degeneration, Abnormal auditory evoked potentials, Synophrys, Macular atrophy, Attenuatio... |
OMIM:619260 |
Chromosome Xp11.3 Deletion Syndrome |
|
Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels, Posterior subcapsular ca... |
OMIM:300578 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Edema, Congestive heart failure |
ORPHA:2505 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Cataract, Optic disc ... |
OMIM:268315 |
Gracile Bone Dysplasia |
|
Hypoplastic spleen, Ascites, Hypocalcemia, Asplenia |
OMIM:602361 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Motor a... |
ORPHA:1215 |
Pheochromocytoma |
|
Positive regitine blocking test, Cerebral hemorrhage, Congestive heart failure, Episodic hyperten... |
OMIM:171300 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Pulmonary arterial hypertension, Respiratory distress, Congestive heart failure, Central apnea, R... |
OMIM:616482 |
Obesity Due To Sim1 Deficiency |
|
Hypotension, Obesity, Postural hypotension with compensatory tachycardia |
ORPHA:369873 |
Fryns Syndrome |
|
Polyhydramnios, Ventricular septal defect, Joint contracture of the hand, Polysplenia, Camptodact... |
OMIM:229850 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension, Hyperkalemia, Increased circulating renin level, Dehydration, Hyponatremia |
OMIM:177735 |
Jalili Syndrome |
|
Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1873 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Supracardiac total anomalous pulmonary venous connection, Pulmonary hypoplasia, Pulmonary artery ... |
ORPHA:99125 |
Noonan Syndrome 1 |
|
Webbed neck, Ventricular septal defect, Lymphedema, Atrial septal defect, Hypertrophic cardiomyop... |
OMIM:163950 |
Neuroleptic Malignant Syndrome |
|
Hypotension, Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, D... |
ORPHA:94093 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Hypertrichosis, Cataract, Coloboma, Optic atrophy |
OMIM:612379 |
Geleophysic Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Joint contracture of the hand, Mitral stenosi... |
OMIM:231050 |
Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... |
ORPHA:70476 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Joint contracture of the hand, Jaundice, Camptodactyly, Abnormality of the mitochondrion, Elevate... |
OMIM:214110 |
Joubert Syndrome 1 |
|
Neonatal breathing dysregulation, Hepatic fibrosis, Episodic tachypnea, Macroglossia, Central apnea |
OMIM:213300 |
Multiple Sulfatase Deficiency |
|
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation, C... |
ORPHA:585 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Impaired myocardial contractility, Rhabdomyolysis, Lower limb muscle weakne... |
ORPHA:79102 |
Mastocytosis |
|
Hypotension, Respiratory insufficiency, Asthma, Arrhythmia, Cough, Hypercalcemia, Gastrointestina... |
ORPHA:98292 |
Relapsing Fever |
|
Hypotension, Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Epistaxis, Cough... |
ORPHA:91547 |
Congenital Fibrinogen Deficiency |
|
Subcutaneous hemorrhage, Abnormal umbilical stump bleeding, Abnormal bleeding, Bruising susceptib... |
ORPHA:335 |
Friedreich Ataxia 2 |
|
Concentric hypertrophic cardiomyopathy, Abnormal EKG, Decreased pyruvate carboxylase activity, Co... |
OMIM:601992 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Congestive heart failure, Noncompaction cardiomyopathy, Recurrent upper respiratory tract infecti... |
ORPHA:508542 |
Glucagonoma |
|
Intermittent jaundice, Extrahepatic cholestasis, Neoplasm of the pancreas, Abnormal abdomen morph... |
ORPHA:97280 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Hypotension, Exaggerated startle response, Blepharospasm, Limb hypertonia, Limb dystonia, Tortico... |
OMIM:608643 |
Metachromatic Leukodystrophy, Adult-Onset, With Normal Arylsulfatase A |
|
Hypotension |
OMIM:156310 |
Craniotelencephalic Dysplasia |
|
Optic atrophy, Septo-optic dysplasia |
ORPHA:1528 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... |
ORPHA:29072 |
Diffuse Cutaneous Mastocytosis |
|
Hypotension, Peau d'orange, Abnormality of the liver, Gastrointestinal hemorrhage, Hepatomegaly, ... |
ORPHA:79456 |
Congenital Hypothyroidism |
|
Hypotension, Abnormal pericardium morphology, Macroglossia, Hypertension, Palpebral edema, Sinusi... |
ORPHA:442 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Sensory axonal neuropathy, Optic disc pallor, Optic atrophy, Motor axonal neuropathy |
OMIM:609541 |
Sepsis In Premature Infants |
|
Hypotension, Splenomegaly, Nasal flaring, Jaundice, Abnormal respiratory system physiology, Edema... |
ORPHA:90051 |
Perlman Syndrome |
|
Polyhydramnios, Large for gestational age, Congenital diaphragmatic hernia, Edema, Visceromegaly,... |
OMIM:267000 |
Marfan Syndrome |
|
Flexion contracture, Decreased muscle mass, Pneumothorax, Bicuspid aortic valve, Mitral valve pro... |
OMIM:154700 |
Chronic Graft Versus Host Disease |
|
Flexion contracture, Pneumothorax, Bronchiectasis, Elevated hepatic transaminase, Bronchiolitis o... |
ORPHA:99921 |
Oculo-Palato-Cerebral Syndrome |
|
Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract |
ORPHA:2714 |
Tsh-Secreting Pituitary Adenoma |
|
Hypotension, Pericardial effusion, Ventricular arrhythmia, Supraventricular arrhythmia, Hypokalem... |
ORPHA:91347 |
Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To |
|
Nonarteritic anterior ischemic optic neuropathy |
OMIM:258660 |
Phacoanaphylactic Uveitis |
|
Corneal keratic precipitates, Abnormal pupil morphology, Retinal arteritis, Tractional retinal de... |
ORPHA:209959 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Polysplenia, Pulmonary hypoplasia, Pancreatic fibrosis, Hepatomegaly, Extrapulm... |
OMIM:200995 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Hepatic failure, Hypoventilation, Microvesicular hepatic steatosis, Jaundice, Elevated hepatic tr... |
OMIM:203700 |
Functioning Gonadotropic Adenoma |
|
Oligospermia, Ascites |
ORPHA:91348 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Retinal dysplasia, Remnants of the hyaloid vascular system, Peters anomal... |
OMIM:614643 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Supernumerary nipple, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:1173 |
Ileal Neuroendocrine Tumor |
|
Hypotension, Hepatic failure, Extrahepatic cholestasis, Arterial occlusion, Cardiogenic shock, El... |
ORPHA:100078 |
Jejunal Neuroendocrine Tumor |
|
Hypotension, Hepatic failure, Extrahepatic cholestasis, Arterial occlusion, Cardiogenic shock, El... |
ORPHA:100077 |
Acquired Purpura Fulminans |
|
Macular purpura, Intracranial hemorrhage, Internal hemorrhage, Shock, Prolonged prothrombin time |
ORPHA:49566 |
Duodenal Neuroendocrine Tumor |
|
Hypotension, Hepatic failure, Extrahepatic cholestasis, Cardiogenic shock, Elevated hepatic trans... |
ORPHA:100076 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Flexion contracture, Elbow flexion contracture, Elevated hepatic transam... |
OMIM:256040 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Skeletal mu... |
ORPHA:34516 |
Hereditary Angioedema Type 1 |
|
Hypotension, Edema of the dorsum of hands, Intestinal edema, Respiratory distress, Dyspnea, Tongu... |
ORPHA:100050 |
Infant Botulism |
|
Hypotension, Cardiac arrest, Hypertension, Dyspnea, Xerostomia, Hyponatremia, Respiratory insuffi... |
ORPHA:178478 |
Renal Tubular Dysgenesis |
|
Hypotension, Respiratory insufficiency, Pulmonary hypoplasia, Oligohydramnios |
OMIM:267430 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Bronchiectasis, Hepatitis, Congestive hear... |
ORPHA:391487 |
Pancreatitis, Hereditary |
|
Pancreatic pseudocyst, Pancreatic calcification, Pleural effusion, Exocrine pancreatic insufficie... |
OMIM:167800 |
Joubert Syndrome 2 |
|
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea |
OMIM:608091 |
Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
Myotonia Fluctuans |
|
Myotonia with warm-up phenomenon, Myotonia of the lower limb, Spasticity of facial muscles, Myoto... |
ORPHA:99734 |
Hermansky-Pudlak Syndrome 8 |
|
Iris transillumination defect, Ocular albinism, Albinism, Silver-gray hair, Astigmatism, Hypoplas... |
OMIM:614077 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Pulmonary arterial hypertension, Patent foramen ovale, Aspiration pneumonia, Ventricular septal d... |
ORPHA:444077 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Respiratory insufficiency, Thin skin, Congestive heart failure, Disproportionate tall stature, Re... |
OMIM:225400 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Optic atrophy, Facial palsy |
OMIM:611490 |
Madras Motor Neuron Disease |
|
Optic atrophy, Facial palsy |
ORPHA:137867 |
Myotonia Congenita, Autosomal Dominant |
|
Myotonia, Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm... |
OMIM:160800 |
Walker-Warburg Syndrome |
|
Optic atrophy, Retinal dystrophy, Abnormal optic nerve morphology, Microcornea, Retinal dysplasia... |
ORPHA:899 |
Paramyotonia Congenita Of Von Eulenburg |
|
Handgrip myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Paradoxical myotonia, Inspir... |
OMIM:168300 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
Meningococcal Meningitis |
|
Hypotension, Elevated circulating C-reactive protein concentration, Shock, Neonatal respiratory d... |
ORPHA:33475 |
Gallbladder Neuroendocrine Tumor |
|
Intermittent jaundice, Extrahepatic cholestasis, Biliary tract neoplasm, Biliary tract obstructio... |
ORPHA:100086 |
Osteopetrosis, Autosomal Recessive 8 |
|
Optic atrophy, Facial palsy |
OMIM:615085 |
Marfan Syndrome |
|
Mitral valve prolapse, Congestive heart failure, Pulmonary artery dilatation, Emphysema, Dispropo... |
ORPHA:558 |
Late-Onset Familial Hypoaldosteronism |
|
Hypotension, Hyperkalemia, Increased circulating renin level, Hyponatremia, Orthostatic hypotension |
ORPHA:556037 |
Leber Congenital Amaurosis 15 |
|
Peripapillary atrophy, Retinal degeneration, Dull foveal reflex, Attenuation of retinal blood ves... |
OMIM:613843 |
Lymphatic Malformation 12 |
|
Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Recurrent upper and lower respiratory trac... |
OMIM:620014 |
Papilloma Of Choroid Plexus |
|
Papilledema |
OMIM:260500 |
Full Nf2-Related Schwannomatosis |
|
Bilateral vestibular schwannoma, Facial palsy, Retinal hamartoma, Epiretinal membrane, Posterior ... |
ORPHA:637 |
Familial Glucocorticoid Deficiency |
|
Hypotension, Azoospermia, Hyperkalemia, Hypertrophic cardiomyopathy, Tall stature, Hyponatremia |
ORPHA:361 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Hyperalaninemia, Decreased muscle mass, Elevated hepatic transaminase, Abnormality of ... |
ORPHA:298 |
Myotonia Congenita, Autosomal Recessive |
|
Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenomenon, EMG... |
OMIM:255700 |
Generalized Eruptive Keratoacanthoma |
|
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca |
ORPHA:411777 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Ventricular septal defect, Heart murmur, Bicuspid aortic valve, Hyperbilirubinemia, Torticollis, ... |
OMIM:619475 |
Hydroxykynureninuria |
|
Hypotension, Abnormal circulating tryptophan concentration, Breathing dysregulation, Tachycardia |
ORPHA:79155 |
Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Elbow flexion contracture, Congestive heart failure, Mitral regurgitat... |
OMIM:608328 |
Sturge-Weber Syndrome |
|
Optic atrophy, Abnormal choroid morphology, Iris coloboma, Conjunctival telangiectasia, Heterochr... |
ORPHA:3205 |
Atresia Of Urethra |
|
Ascites, Pulmonary insufficiency, Oligohydramnios |
ORPHA:105 |
Cutis Marmorata Telangiectatica Congenita |
|
Ascites, Telangiectasia of the skin |
ORPHA:1556 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:543470 |
Incontinentia Pigmenti |
|
Atrophic, patchy alopecia, Retinal hemorrhage, Alopecia, Retinal vascular proliferation, Optic at... |
OMIM:308300 |
Orofaciodigital Syndrome Type 2 |
|
Apnea, Atrioventricular canal defect, Tachypnea |
ORPHA:2751 |
Rhabdoid Tumor |
|
Hypertension, Internal hemorrhage |
ORPHA:69077 |
Atypical Werner Syndrome |
|
Thin skin, Abnormality of the Achilles tendon, Calf muscle hypertrophy, Mitral valve prolapse, Hy... |
ORPHA:79474 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Macular hypoplasia, Iris coloboma, Optic atrophy |
OMIM:615219 |
Williams Syndrome |
|
Sudden cardiac death, Abnormal circulating lipid concentration, Abnormal cardiac septum morpholog... |
ORPHA:904 |
Acquired Von Willebrand Syndrome |
|
Hypotension, Intracranial hemorrhage, Epistaxis, Aortic regurgitation, Melena, Mitral regurgitati... |
ORPHA:99147 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Increased muscle glycogen content, Hyperuricemia, Skeletal muscle atrophy, Myotonia |
ORPHA:371 |
Scalp-Ear-Nipple Syndrome |
|
Supraventricular tachycardia, Hypertension, Congestive heart failure, Cardiac myxoma, Palpebral e... |
OMIM:181270 |
Diamond-Blackfan Anemia 1 |
|
Webbed neck, Ventricular septal defect, Congestive heart failure, Atrial septal defect, Tricuspid... |
OMIM:105650 |
Autosomal Dominant Cutis Laxa |
|
Dilatation of the ventricular cavity, Bronchiectasis, Congestive heart failure, Emphysema, Aortic... |
ORPHA:90348 |
Homozygous Familial Hypercholesterolemia |
|
Sudden cardiac death, Abnormal tendon morphology, Tendon xanthomatosis, Heart murmur, Angina pect... |
ORPHA:391665 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension, Hyponatremia |
ORPHA:91354 |
Warburg Micro Syndrome 2 |
|
Optic atrophy, Developmental cataract, Microcornea, Cataract, Low anterior hairline |
OMIM:614225 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension, Azoospermia, Hyperkalemia, Increased circulating renin level, Hyponatremia, Dehydrat... |
ORPHA:90791 |
Fraser Syndrome 3 |
|
Ascites, Abnormal lung lobation, Nonimmune hydrops fetalis, Oligohydramnios |
OMIM:617667 |
Myotonia Permanens |
|
Asthma, Myotonia, Generalized muscle hypertrophy, Dyspnea, Skeletal muscle hypertrophy |
ORPHA:99735 |
Marburg Hemorrhagic Fever |
|
Hypotension, Hypovolemia, Hypokalemia, Pancreatitis, Elevated hepatic transaminase, Jaundice, Int... |
ORPHA:99826 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ... |
OMIM:187300 |
Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Incontinentia Pigmenti |
|
Pulmonary arterial hypertension, Retinal hemorrhage, Camptodactyly of finger, Cerebral ischemia, ... |
ORPHA:464 |
Inhalational Anthrax |
|
Hypotension, Dyspnea, Respiratory distress, Internal hemorrhage |
ORPHA:247257 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Temporal optic disc pallor, Morning glory anomaly, Optic atrophy, Cataract |
ORPHA:98673 |
Episodic Ataxia Type 1 |
|
Choreoathetosis, Myotonia, Respiratory distress, Calf muscle hypertrophy |
ORPHA:37612 |
Tetraamelia-Multiple Malformations Syndrome |
|
Optic atrophy, Septo-optic dysplasia, Microcornea, Iris coloboma, Cataract |
ORPHA:3301 |
Poliomyelitis |
|
Hypotension, Abnormal skeletal muscle morphology, Lower limb muscle weakness, Hypoplasia of the m... |
ORPHA:2912 |
Ascites, Chylous |
|
Chylous ascites |
OMIM:208300 |
Steinert Myotonic Dystrophy |
|
Respiratory insufficiency, Polyhydramnios, Elevated hepatic transaminase, Facial diplegia, Hyperc... |
ORPHA:273 |
Congenital Isolated Acth Deficiency |
|
Hypotension, Hepatitis, Hyperkalemia, Hyponatremia, Prolonged neonatal jaundice |
ORPHA:199296 |
Sialuria |
|
Elevated hepatic transaminase, Abnormality of the mitochondrion, Hepatosplenomegaly, Hepatomegaly... |
ORPHA:3166 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Retinal pigment epithelial atrophy, Retinal atrophy, Epiretinal membrane, Photoreceptor layer los... |
OMIM:616959 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic neuropathy, Retinopathy, Axonal degeneration, Optic atrophy |
OMIM:616811 |
Brody Disease |
|
Flexion contracture, Myotonia, Skeletal muscle hypertrophy, Percussion myotonia |
OMIM:601003 |
Niemann-Pick Disease, Type C2 |
|
Respiratory insufficiency, Polyhydramnios, Respiratory failure, Jaundice, Fetal ascites, Hepatome... |
OMIM:607625 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Hydrops fetalis, Fetal ascites |
OMIM:215045 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Abnormal optic disc morphology, Hirsutism, Highly arched eyebrow, Decreased corneal thickness, Co... |
ORPHA:293967 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Optic atrophy, Posterior synechiae of the anterior chamber, Developmental cataract, Retinal dyspl... |
OMIM:613154 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Optic atrophy, Scarring alopecia of scalp, Astigmatism, Cataract, Ectopia pupillae |
OMIM:618727 |
Norrie Disease |
|
Abnormal pupil morphology, Optic atrophy, Hypoplasia of the iris, Anterior chamber synechiae, Abn... |
ORPHA:649 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Megalocornea, Coloboma, Optic atrophy, Retinal atrophy, Optic nerve hypoplasia, Retinal dysplasia... |
OMIM:236670 |
Hallermann-Streiff Syndrome |
|
Respiratory insufficiency, Tracheomalacia, Abdominal situs inversus, Congestive heart failure |
ORPHA:2108 |
Congenital Tracheal Stenosis |
|
Anomalous origin of left pulmonary artery from ascending aorta, Polyhydramnios, Ventricular septa... |
ORPHA:141127 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypokalemia, Myopathy, Myotonia |
OMIM:170400 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Optic neuropathy, Optic disc pallor, Optic atrophy |
OMIM:618249 |
Familial Hypoaldosteronism |
|
Hypotension, Hypovolemia, Hyperkalemia, Increased circulating renin level, Hyponatremia, Orthosta... |
ORPHA:427 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypotension, Hypokalemia, Hypertension |
OMIM:611489 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Motor axonal neuropathy, Optic atrophy, Abnormal autonomic nervous syste... |
OMIM:231550 |
Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Knee flexion contracture, Respiratory insufficiency, Thin skin, ... |
OMIM:601559 |
Knobloch Syndrome 1 |
|
Horizontal eyebrow, Peripapillary atrophy, Iris transillumination defect, Macular hypoplasia, Dev... |
OMIM:267750 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cataract, Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy |
OMIM:610651 |
African Trypanosomiasis |
|
Third degree atrioventricular block, Abnormal EKG, Jaundice, Choreoathetosis, Congestive heart fa... |
ORPHA:3385 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Optic disc pallor, Optic atrophy |
OMIM:614388 |
Schwartz-Jampel Syndrome |
|
Pulmonary arterial hypertension, Wrist flexion contracture, Respiratory insufficiency, Blepharosp... |
ORPHA:800 |
Gitelman Syndrome |
|
Hypotension, Rhabdomyolysis, Hypokalemia, Increased circulating renin level, Prolonged QT interva... |
OMIM:263800 |
Acute Adrenal Insufficiency |
|
Hypotension, Hyperuricemia, Hypovolemia, Hyperkalemia, Increased circulating renin level, Myocard... |
ORPHA:95409 |
Bartter Syndrome, Type 3 |
|
Hypotension, Hypokalemia, Increased circulating renin level, Hyperchloriduria, Dehydration |
OMIM:607364 |
Hennekam-Beemer Syndrome |
|
Hypotension, Camptodactyly of finger, Respiratory insufficiency, Arrhythmia, Telangiectasia of th... |
ORPHA:2135 |
Acute Liver Failure |
|
Hypotension, Cerebral edema, Hypocapnia, Hepatocellular necrosis, Hepatic necrosis, Jaundice, Hep... |
ORPHA:90062 |
Erythrocytosis, Familial, 2 |
|
Pulmonary arterial hypertension, Hypotension, Cerebral hemorrhage |
OMIM:263400 |
Joubert Syndrome 5 |
|
Neonatal breathing dysregulation, Episodic tachypnea, Central apnea |
OMIM:610188 |
Neuroendocrine Neoplasm Of Appendix |
|
Hypotension, Heart murmur, Asthma, Elevated hepatic transaminase, Palpitations, Hepatomegaly, Tri... |
ORPHA:100079 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Corneal erosion, Optic atrophy, Heterochromia iridis, Corneal opacity,... |
ORPHA:1764 |
Wiskott-Aldrich Syndrome |
|
Sudden cardiac death, Petechiae, Purpura, Intracranial hemorrhage, Internal hemorrhage, Bruising ... |
ORPHA:906 |
Idiopathic Camptocormia |
|
Fatty replacement of skeletal muscle, Myotonia, Proximal spinal muscular atrophy, EMG: myopathic ... |
ORPHA:1320 |
Phace Association |
|
Horner syndrome, Optic atrophy, Developmental cataract, Optic nerve hypoplasia, Increased retinal... |
OMIM:606519 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Firm muscles, Myotonia, Skeletal muscle hypertrophy |
OMIM:255710 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Flexion contracture, Postural tremor, Myotonia, Head titubation, Intention tremor |
OMIM:615491 |
Pde4D Haploinsufficiency Syndrome |
|
Hypotension, Obesity |
ORPHA:439822 |
Muscular Dystrophy, Barnes Type |
|
Muscular dystrophy, Myopathy, Myotonia |
OMIM:158800 |
Carney Complex |
|
Neoplasm of the pancreas, Hepatocellular carcinoma, Hypertension, Congestive heart failure, Oligo... |
ORPHA:1359 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Palate telangiectasia, Ischemic stroke, Cerebral hemorrhage, Nasal mucosa telangiectasia, Transie... |
OMIM:610655 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal optic disc morphology, Abnormal lens morphology, Optic atrophy |
ORPHA:363417 |
Parkes Weber Syndrome |
|
Bounding pulse, Lower limb muscle weakness, High-output congestive heart failure, Abnormal B-type... |
ORPHA:90307 |
Alström Syndrome |
|
Chronic bronchitis, Elevated hepatic transaminase, Recurrent sinusitis, Hepatosplenomegaly, Myoca... |
ORPHA:64 |
Post-Traumatic Pituitary Deficiency |
|
Hypotension |
ORPHA:95619 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension, Bronchiectasis, Recurrent bronchitis, Hyperkalemia, Recurrent sinusitis, Recurrent p... |
ORPHA:293978 |
Neuroocular Syndrome |
|
Brushfield spots, Brittle hair, Synophrys, Long eyelashes, Lens coloboma, Microcornea, Remnants o... |
OMIM:619539 |
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Skeletal muscle atrophy, Myotonia |
OMIM:254950 |
Spinocerebellar Ataxia Type 7 |
|
Congestive heart failure |
ORPHA:94147 |
Wolfram Syndrome 2 |
|
Optic neuropathy, Optic atrophy |
OMIM:604928 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren... |
OMIM:600376 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Telangiectasia, Hepatic arteriovenous malformation, Pulmonary arteriovenous malformation, Mitral ... |
OMIM:175050 |
Alexander Disease |
|
Sudden cardiac death, Hypotension, Respiratory insufficiency, Hypertension, Tremor, Sleep apnea, ... |
ORPHA:58 |
Plague |
|
Hypotension, Endocarditis, Splenomegaly, Respiratory distress, Edema, Hepatomegaly, Arrhythmia, H... |
ORPHA:707 |
Acetazolamide-Responsive Myotonia |
|
Myotonia, Skeletal muscle hypertrophy |
ORPHA:99736 |
Late-Onset Isolated Acth Deficiency |
|
Hypotension, Hyperuricemia, Hepatitis, Hyperkalemia, Hypercalcemia, Hyponatremia, Orthostatic hyp... |
ORPHA:199299 |
Stankiewicz-Isidor Syndrome |
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Abnormal optic disc morphology |
OMIM:617516 |
Ramon Syndrome |
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Hypertrichosis, Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy |
OMIM:266270 |
Acromelic Frontonasal Dysostosis |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia |
OMIM:603671 |
D-Bifunctional Protein Deficiency |
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Polyhydramnios, Decreased muscle mass, Increased circulating very long-chain fatty acid concentra... |
OMIM:261515 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Megalocornea, Hypoplasia of the retina, Coloboma, Optic atrophy, Retinal atrophy, Retinal degener... |
OMIM:253280 |
Hyperkalemic Periodic Paralysis |
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Hyperkalemia, Myotonia |
OMIM:170500 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
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Hypotension, Syncope, Tachycardia, Hepatomegaly, Splenomegaly |
ORPHA:98849 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
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Hypotension, Hypovolemia, Abnormal circulating cholesterol concentration, Hyperkalemia, Increased... |
ORPHA:168558 |
Bardet-Biedl Syndrome 20 |
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Rod-cone dystrophy, Astigmatism, Papilledema, Retinal vascular tortuosity |
OMIM:619471 |
Episodic Ataxia, Type 2 |
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Dystonia, Myotonia |
OMIM:108500 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
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Hypotension, Hypovolemia, Abnormal circulating cholesterol concentration, Hyperkalemia, Increased... |
ORPHA:289548 |
Autosomal Dominant Optic Atrophy And Cataract |
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Optic atrophy, Cerulean cataract, Anterior subcapsular cataract, Posterior subcapsular cataract, ... |
ORPHA:67036 |
Niemann-Pick Disease, Type C1 |
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Fetal ascites, Hepatomegaly, Fatal liver failure in infancy, Prolonged neonatal jaundice, Dystoni... |
OMIM:257220 |
Heart Block, Congenital |
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Myocardial fibrosis, Myocardial calcification, Mitral regurgitation, Atrioventricular block, Abse... |
OMIM:234700 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Subvalvular aortic stenosis, Flexion contracture, Ischemic stroke, Elbow flexion contracture, Hep... |
OMIM:619503 |
Proximal Myotonic Myopathy |
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Myotonia |
ORPHA:606 |
Pituitary Apoplexy |
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Hypotension, Hypertension, Hyponatremia |
ORPHA:95613 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Hypotension, Elevated circulating creatinine concentration, Hyperuricemia, Hypertension |
OMIM:174000 |
Juvenile Polyposis Syndrome |
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Pulmonary arterial hypertension, Hepatic arteriovenous malformation, Mucosal telangiectasiae, Tra... |
ORPHA:2929 |
Neurocardiofaciodigital Syndrome |
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Sparse eyebrow, Cataract, Optic disc pallor, Sparse hair, Sclerocornea |
OMIM:619869 |
Thomsen And Becker Disease |
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Myotonia |
ORPHA:614 |
Kenny-Caffey Syndrome, Type 2 |
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Developmental cataract, Papilledema, Retinal calcification |
OMIM:127000 |
Microphthalmia, Syndromic 2 |
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Laterally curved eyebrow, Developmental cataract, Microcornea, Iris coloboma, Remnants of the hya... |
OMIM:300166 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
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Hypotension, Hypocapnia, Hypovolemia, Hyperkalemia, Shock, Hypochloremia, Tall stature, Hyponatre... |
ORPHA:90794 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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Coloboma, Facial palsy, Abnormal optic disc morphology, Optic nerve hypoplasia, Iris coloboma, Hy... |
ORPHA:508498 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
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Myotonia |
ORPHA:391307 |
Fragile X-Associated Tremor/Ataxia Syndrome |
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Hypotension, Hypertension, Intention tremor |
ORPHA:93256 |
Addison Disease |
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Hypotension, Hyperuricemia, Hyperkalemia, Increased circulating renin level, Hypercalcemia, Hypon... |
ORPHA:85138 |
Holoprosencephaly 2 |
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Iris coloboma, Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system |
OMIM:157170 |
Non-Functioning Pituitary Adenoma |
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Hypotension |
ORPHA:91349 |
Yellow Fever |
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Reduced left ventricular ejection fraction, Supraventricular arrhythmia, Abnormal bleeding, Inter... |
ORPHA:99829 |
7Q11.23 Microduplication Syndrome |
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Horizontal eyebrow, Abnormal optic disc morphology, Sparse anterior scalp hair, Long eyelashes, A... |
ORPHA:96121 |
Prolactinoma |
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Hypotension |
ORPHA:2965 |
Superficial Siderosis |
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Subarachnoid hemorrhage, Abnormal bleeding, Internal hemorrhage, Persistent bleeding after trauma |
ORPHA:247245 |
Oxoglutaric Aciduria |
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Abnormality of Krebs cycle metabolism, Skeletal muscle atrophy |
ORPHA:31 |
Visceral Steatosis, Congenital |
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Hepatic steatosis, Jaundice, Hypocalcemia, Myocardial steatosis |
OMIM:228100 |
Tuberous Sclerosis Complex |
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Hypertension, Internal hemorrhage |
ORPHA:805 |
Non-Acquired Panhypopituitarism |
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Hypotension |
ORPHA:90695 |
Faundes-Banka Syndrome |
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Fetal ascites, Flexion contracture of toe |
OMIM:619376 |
Vascular Ehlers-Danlos Syndrome |
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Transient ischemic attack, Abnormal bleeding, Hypertension, Internal hemorrhage, Bruising suscept... |
ORPHA:286 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
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Hypotension |
ORPHA:95494 |