| Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
| Choroidal Dystrophy, Central Areolar, 1 |
|
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
| Night Blindness, Congenital Stationary, Type 1D |
|
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
| Hemoglobin D Disease |
|
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... |
ORPHA:90039 |
| Retinitis Pigmentosa 36 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:610599 |
| Leber Congenital Amaurosis 13 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... |
OMIM:612712 |
| Stargardt Disease 1 |
|
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement... |
OMIM:115197 |
| Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole |
|
Drusen, Reticular pigmentary degeneration, Retinal dystrophy |
OMIM:267800 |
| Cardiomyopathy, Dilated, 1M |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:607482 |
| Grouped Pigmentation Of The Retina |
|
Abnormality of retinal pigmentation |
OMIM:233800 |
| Cardiomyopathy, Familial Hypertrophic, 15 |
|
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... |
OMIM:613255 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Hypochromia, Decreased mean corpuscular volume, Anemia |
OMIM:205950 |
| Familial Isolated Restrictive Cardiomyopathy |
|
Recurrent respiratory infections, Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Lef... |
ORPHA:75249 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... |
OMIM:613642 |
| Cardiomyopathy, Dilated, 1R |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:613424 |
| Cardiomyopathy, Dilated, 2A |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... |
OMIM:611880 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
| Cardiomyopathy, Dilated, 1I |
|
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
| Choroideremia |
|
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... |
OMIM:303100 |
| Cardiomyopathy, Dilated, 1Bb |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dyspnea, Dilated cardi... |
OMIM:612877 |
| Macular Degeneration, Age-Related, 13 |
|
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar |
OMIM:615439 |
| Hyperreflexia |
|
Abnormality of retinal pigmentation |
OMIM:145290 |
| Cardiomyopathy, Dilated, 1L |
|
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... |
OMIM:606685 |
| Cardiomyopathy, Dilated, 1Ff |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... |
OMIM:613286 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Edema, Atelectasis, Dyspnea, Tachypnea, Pulm... |
OMIM:267450 |
| Retinopathy, Pericentral Pigmentary, Dominant |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
| Cleft Lip-Retinopathy Syndrome |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1995 |
| Cardiomyopathy, Dilated, 1Ee |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... |
OMIM:613252 |
| X-Linked Retinal Dysplasia |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachycardia, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal flaring, ... |
ORPHA:70587 |
| Extracranial Carotid Artery Aneurysm |
|
Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Stroke, Total anomalous pulm... |
ORPHA:494424 |
| Bardet-Biedl Syndrome 13 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:615990 |
| Cardiomyopathy, Dilated, 1Dd |
|
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... |
OMIM:613172 |
| Cardiomyopathy, Dilated, 1J |
|
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... |
OMIM:605362 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... |
ORPHA:70589 |
| Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... |
OMIM:601493 |
| Left Ventricular Noncompaction 10 |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:615396 |
| Cirrhotic Cardiomyopathy |
|
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Pulmonary edema, Left atri... |
ORPHA:57777 |
| Cardiomyopathy, Dilated, 1W |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611407 |
| Cardiomyopathy, Dilated, 1Cc |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:613122 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
| Macular Dystrophy, Retinal, 2 |
|
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... |
OMIM:608051 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Aortic Aneurysm, Familial Thoracic 7 |
|
Descending aortic dissection, Aortic aneurysm, Ascending aortic dissection, Aortic rupture |
OMIM:613780 |
| Cardiomyopathy, Dilated, 1Hh |
|
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:613881 |
| Fibromuscular Dysplasia, Arterial |
|
Myocardial infarction, Renovascular hypertension, Stroke, Intermittent claudication, Aortic disse... |
OMIM:135580 |
| Macular Degeneration, Age-Related, 6 |
|
Macular degeneration |
OMIM:613757 |
| Macular Degeneration, Age-Related, 15 |
|
Macular degeneration |
OMIM:615591 |
| Macular Degeneration, Age-Related, 11 |
|
Macular degeneration |
OMIM:611953 |
| Macular Degeneration, Age-Related, 4 |
|
Macular degeneration |
OMIM:610698 |
| Macular Degeneration, Age-Related, 7 |
|
Macular degeneration |
OMIM:610149 |
| Macular Degeneration, Age-Related, 2 |
|
Macular degeneration |
OMIM:153800 |
| Wild Type Attr Amyloidosis |
|
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Abnormal pulmonary i... |
ORPHA:330001 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
| Nephronophthisis 16 |
|
Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Aortic valve steno... |
OMIM:615382 |
| Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormality of the upper urinary tract |
ORPHA:1705 |
| Cardiomyopathy, Dilated, 1U |
|
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... |
OMIM:613694 |
| Sensorineural Deafness With Dilated Cardiomyopathy |
|
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy |
ORPHA:217622 |
| Glycogen Storage Disease Due To Lamp-2 Deficiency |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Cardiorespiratory arrest |
ORPHA:34587 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... |
OMIM:261740 |
| Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
| Sorsby Pseudoinflammatory Fundus Dystrophy |
|
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... |
ORPHA:59181 |
| Exudative Vitreoretinopathy 7 |
|
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
| Carvajal Syndrome |
|
Woolly hair, Congestive heart failure, Dilated cardiomyopathy |
ORPHA:65282 |
| Retinitis Pigmentosa 39 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613809 |
| Night Blindness, Congenital Stationary, Autosomal Dominant 1 |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:610445 |
| Aortic Aneurysm, Familial Thoracic 6 |
|
Thoracic aortic aneurysm, Descending aortic dissection, Premature coronary artery atherosclerosis... |
OMIM:611788 |
| Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
| Reticular Dystrophy Of Retinal Pigment Epithelium |
|
Abnormality of retinal pigmentation, Pigmentary retinopathy |
OMIM:179840 |
| Retinitis Pigmentosa 30 |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... |
OMIM:607921 |
| Hemoglobin E Disease |
|
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... |
ORPHA:2133 |
| Familial Drusen |
|
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
| Retinitis Pigmentosa 57 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... |
OMIM:613582 |
| Retinitis Pigmentosa 87 With Choroidal Involvement |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
| Familial Aortic Dissection |
|
Aortic regurgitation, Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus,... |
ORPHA:229 |
| Peripartum Cardiomyopathy |
|
Crackles, Ventricular tachycardia, Left bundle branch block, Pedal edema, Right ventricular dilat... |
ORPHA:563 |
| Intrinsic Factor Deficiency |
|
Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Increased RBC distributio... |
OMIM:261000 |
| Cardiomyopathy, Dilated, 1Jj |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy |
OMIM:615235 |
| Persistent Placoid Maculopathy |
|
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
| Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
| Cardiomyopathy, Dilated, 1Z |
|
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death |
OMIM:611879 |
| Cardiomyopathy, Dilated, 1B |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... |
OMIM:600884 |
| Central Areolar Choroidal Dystrophy |
|
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... |
ORPHA:75377 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Aortic regurgitation, Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
| Cardiomyopathy, Familial Hypertrophic, 8 |
|
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... |
OMIM:608751 |
| Left Ventricular Noncompaction 8 |
|
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... |
OMIM:615373 |
| Retinitis Pigmentosa 33 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:610359 |
| Retinal Degeneration And Epilepsy |
|
Retinal degeneration |
OMIM:267740 |
| High Altitude Pulmonary Edema |
|
Orthopnea, Tachycardia, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema |
ORPHA:330012 |
| Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
| Exudative Vitreoretinopathy 3 |
|
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... |
OMIM:612158 |
| Nephronophthisis |
|
Abnormality of retinal pigmentation |
ORPHA:655 |
| Cardiomyopathy, Dilated, 1Kk |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... |
OMIM:615248 |
| Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta |
|
Coarctation of abdominal aorta, Cardiomyopathy, Mitral regurgitation |
OMIM:226100 |
| Aortic Aneurysm, Familial Thoracic 8 |
|
Coronary artery dissection, Descending aortic dissection, Coronary artery aneurysm, Ascending aor... |
OMIM:615436 |
| Cardiac Lipidosis, Familial |
|
Cardiomyopathy, Congestive heart failure |
OMIM:212080 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Moyamoya Disease 5 |
|
Ascending tubular aorta aneurysm, Moyamoya phenomenon |
OMIM:614042 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Dilated cardiomyopathy, Respiratory insufficiency due to muscle weakness, P... |
OMIM:300580 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Cardiomyopathy, Dilated, 1K |
|
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm |
OMIM:605582 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Nonproductive cough, Pedal edema, Atrial septal defect, Patent foramen ovale, Abnor... |
ORPHA:980 |
| 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA ... |
OMIM:231530 |
| Systemic Capillary Leak Syndrome |
|
Pericarditis, Rhinorrhea, Myocarditis, Pedal edema, Cardiorespiratory arrest, Pleural effusion, H... |
ORPHA:188 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega... |
ORPHA:2414 |
| Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Pu... |
ORPHA:199241 |
| Cardiomyopathy, Dilated, 1V |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... |
OMIM:613697 |
| Loeffler Endocarditis |
|
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... |
ORPHA:75566 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
| Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Congestive heart failure, Micronodular c... |
ORPHA:139507 |
| Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... |
OMIM:618889 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Woolly ha... |
OMIM:610476 |
| Asbestos Intoxication |
|
Edema, Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on... |
ORPHA:2302 |
| Heart-Hand Syndrome, Slovenian Type |
|
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... |
ORPHA:168796 |
| Takayasu Arteritis |
|
Arteritis |
OMIM:207600 |
| Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
| Retinoschisis 1, X-Linked, Juvenile |
|
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
| Retinitis Pigmentosa 81 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... |
OMIM:617871 |
| Retinitis Pigmentosa 32 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... |
OMIM:609913 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Anisocytosis, Epiretinal ... |
OMIM:616959 |
| Retinitis Pigmentosa 47 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy |
OMIM:613758 |
| Adult Acute Respiratory Distress Syndrome |
|
Shock, Pneumonia, Dyspnea, Vasculitis, Hypoxemia, Respiratory failure, Abnormal blood gas level, ... |
ORPHA:70578 |
| Retinitis Pigmentosa 96 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning |
OMIM:620228 |
| Cardiomyopathy, Dilated, 2C |
|
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy |
OMIM:618189 |
| Late-Onset Retinal Degeneration |
|
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... |
OMIM:605670 |
| Lymphatic Malformation 7 |
|
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial ... |
OMIM:617300 |
| Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... |
OMIM:615395 |
| Temporal Arteritis |
|
Retinal arteritis |
OMIM:187360 |
| Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Pedal edema, Right ventr... |
ORPHA:2041 |
| Aortic Aneurysm, Familial Abdominal, 1 |
|
Abdominal aortic aneurysm |
OMIM:100070 |
| Hemochromatosis, Type 2A |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Dilated cardiomyopathy, Cardiomyopathy, Art... |
OMIM:602390 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Erythroid hyperplasia, Decreased mean corpuscular volume, Hypochromia, Anemia |
OMIM:206100 |
| Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatitis, Emphysema, Hepatic failure |
ORPHA:60 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated hepatic transaminase, Dilated cardiomyopathy |
OMIM:612937 |
| Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
| Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology... |
ORPHA:50251 |
| Cardiomyopathy, Dilated, 3B |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy |
OMIM:302045 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary hyp... |
OMIM:614096 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
| Familial Pseudohyperkalemia |
|
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume |
ORPHA:90044 |
| Myopathy, Myofibrillar, 1 |
|
Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Third degree atrioventr... |
OMIM:601419 |
| Dpm3-Cdg |
|
Elevated hepatic transaminase, Dilated cardiomyopathy |
ORPHA:263494 |
| Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2579 |
| Retinitis Pigmentosa 95 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... |
OMIM:620102 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Reduced systolic function, Dilated cardiomyopathy, El... |
OMIM:618805 |
| Complete Atrioventricular Septal Defect |
|
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... |
ORPHA:1329 |
| Lethal Infantile Mitochondrial Myopathy |
|
Cardiomyopathy, Neonatal respiratory distress, Lethargy |
ORPHA:254857 |
| Retinitis Pigmentosa 62 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... |
OMIM:614181 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... |
OMIM:600649 |
| Cardiomyopathy, Dilated, 1X |
|
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... |
OMIM:611615 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Nonimmune hydrops fetalis, Cardio... |
OMIM:618052 |
| Congenital Heart Block |
|
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... |
ORPHA:60041 |
| Cardiomyopathy, Familial Hypertrophic, 1 |
|
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy |
OMIM:192600 |
| Aortic Aneurysm, Familial Thoracic 11, Susceptibility To |
|
Descending aortic dissection, Ascending aortic dissection, Aortic aneurysm |
OMIM:617349 |
| Nanophthalmos |
|
Abnormality of retinal pigmentation, Abnormal choroid morphology |
ORPHA:35612 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
| Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Respiratory tract infection, Splenomegaly, Recurrent otitis media, Hepatitis |
ORPHA:444463 |
| His Bundle Tachycardia |
|
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart |
ORPHA:3283 |
| 3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransfer... |
OMIM:610198 |
| Combined Oxidative Phosphorylation Deficiency 23 |
|
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia |
OMIM:616198 |
| Retinitis Pigmentosa 54 |
|
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... |
OMIM:613428 |
| Aorto-Ventricular Tunnel |
|
Abnormal coronary artery morphology, Aorto-ventricular tunnel, Congestive heart failure, Heart mu... |
ORPHA:3400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Retinal dysplasia |
OMIM:615041 |
| Sickle Cell Anemia |
|
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Pe... |
ORPHA:232 |
| Tako-Tsubo Cardiomyopathy |
|
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... |
ORPHA:66529 |
| Cardiomyopathy, Dilated, 2B |
|
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... |
OMIM:614672 |
| Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant |
|
Sudden cardiac death, First degree atrioventricular block, Dilated cardiomyopathy, Syncope, Inter... |
OMIM:181350 |
| Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
| Cone-Rod Dystrophy 5 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration |
OMIM:600977 |
| Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... |
OMIM:255160 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Polymyositis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Abnormal atrioventricular conduction, My... |
ORPHA:732 |
| Cardiomyopathy, Dilated, 2G |
|
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Myocardial s... |
OMIM:619897 |
| Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Elevated hepatic transaminase, Dilated cardiomyopathy |
OMIM:619688 |
| Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
| Microcephaly-Cardiomyopathy |
|
Dilated cardiomyopathy |
OMIM:251220 |
| Dk1-Cdg |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Congestive ... |
ORPHA:91131 |
| Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2 |
|
Dilated cardiomyopathy, Malar rash, Decreased body weight |
OMIM:618097 |
| Leber Congenital Amaurosis 19 |
|
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels |
OMIM:618513 |
| Pigmented Paravenous Chorioretinal Atrophy |
|
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy |
OMIM:172870 |
| Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Generalized edema, Alopecia, Fair hair, Apnea, Edema, Cardiom... |
ORPHA:79330 |
| Retinitis Pigmentosa 11 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... |
OMIM:600138 |
| Retinitis Pigmentosa 76 |
|
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... |
OMIM:617123 |
| Central Retinal Vein Occlusion |
|
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... |
ORPHA:411527 |
| Atrial Standstill |
|
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... |
ORPHA:1344 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy |
OMIM:611283 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Cardiomyopathy, Lethargy |
ORPHA:26792 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Sudden cardiac death, Cardiomegaly, Hepatocellular necro... |
OMIM:201475 |
| Retinitis Pigmentosa 61 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:614180 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Recurrent respiratory infections, Acne, Recurrent skin infections, Erythema nodosum... |
OMIM:300635 |
| Familial Atrial Myxoma |
|
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
| Retinitis Pigmentosa 28 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:606068 |
| Barth Syndrome |
|
Dilated cardiomyopathy, Endocardial fibroelastosis |
ORPHA:111 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Congestive heart failure, Left ventricular outflow tra... |
OMIM:614980 |
| Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:613801 |
| Bothnia Retinal Dystrophy |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... |
ORPHA:85128 |
| Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... |
OMIM:305390 |
| Histiocytoid Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Ventricular septal def... |
ORPHA:137675 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... |
OMIM:612098 |
| Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Cardiomegaly, Congestive heart failure, Dehydration, Cardiomy... |
OMIM:212140 |
| Coarctation Of Aorta |
|
Coarctation of aorta |
OMIM:120000 |
| Retinitis Pigmentosa 68 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy |
OMIM:615725 |
| Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... |
ORPHA:1345 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachycardia, Heart block, Tachypnea, Capillary leak, Hypoxemia, Pleural effusion, Respiratory fai... |
ORPHA:542323 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Dilated cardiomyopathy, Abnormality o... |
ORPHA:79230 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Atrial Septal Defect, Ostium Primum Type |
|
First degree atrioventricular block, Tachypnea, Atrioventricular block, Right ventricular dilatat... |
ORPHA:99106 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Hypertrophic cardiomyopathy |
OMIM:618683 |
| Cardiomyopathy, Familial Hypertrophic, 14 |
|
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... |
OMIM:613251 |
| Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Left ventricular hypertrophy, Congestive heart failure, Dilated cardiomyopathy |
ORPHA:206546 |
| Vexas Syndrome |
|
Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,... |
OMIM:301054 |
| Igg4-Related Kidney Disease |
|
Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep... |
ORPHA:449395 |
| Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies |
|
Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Systolic anterior moti... |
OMIM:620236 |
| Macular Degeneration, Age-Related, 1 |
|
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... |
OMIM:603075 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
| Progressive Bifocal Chorioretinal Atrophy |
|
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy |
ORPHA:75373 |
| Cardiomyopathy, Dilated, 1Q |
|
Dilated cardiomyopathy |
OMIM:609915 |
| Cardiomyopathy, Dilated, 1H |
|
Dilated cardiomyopathy |
OMIM:604288 |
| Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Cardiomyopathy |
OMIM:609016 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... |
OMIM:618220 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper... |
ORPHA:60032 |
| Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
| Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Splenomega... |
ORPHA:3202 |
| Congenital Gerbode Defect |
|
Crackles, Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaf... |
ORPHA:99095 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure |
OMIM:608099 |
| Vitreoretinopathy, Neovascular Inflammatory |
|
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... |
OMIM:193235 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... |
OMIM:263000 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Portal hypertension, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstiti... |
OMIM:619902 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1574 |
| Sandhoff Disease |
|
Splenomegaly, Congestive heart failure, Recurrent respiratory infections, Hepatomegaly |
ORPHA:796 |
| Retinitis Pigmentosa 4 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... |
OMIM:613731 |
| Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Premature graying of hair, Dilated cardiomyopathy |
OMIM:619903 |
| Elliptocytosis 3 |
|
Decreased mean corpuscular volume, Pyropoikilocytosis, Elliptocytosis, Chronic hemolytic anemia |
OMIM:617948 |
| Congenital Myopathy 8 |
|
Congestive heart failure, Reduced vital capacity, Respiratory insufficiency, Cardiomegaly |
OMIM:618654 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... |
ORPHA:45453 |
| Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
| Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis, Dehydration |
ORPHA:79159 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Prolonged QT interval, Dilated cardiomyopat... |
ORPHA:71212 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy |
OMIM:300718 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Lethargy, H... |
OMIM:613561 |
| Igg4-Related Aortitis |
|
Increased inflammatory response, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascen... |
ORPHA:449400 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cardiac shunt, Cardiomegaly, Tachypnea, Dextrotransposition of the great arteries, Abnormality of... |
ORPHA:860 |
| Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Apnea, Respiratory insufficiency, Left ventricular hypertrophy, Lethargy, Hypertrophic cardiomyop... |
OMIM:618228 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
| Retinitis Pigmentosa 7 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... |
OMIM:608133 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Cardiogenic... |
OMIM:619424 |
| Staphylococcal Necrotizing Pneumonia |
|
Shock, Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Ac... |
ORPHA:36238 |
| Exudative Vitreoretinopathy 1 |
|
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... |
OMIM:133780 |
| Butyrylcholinesterase Deficiency |
|
Congestive heart failure, Respiratory failure, Respiratory failure requiring assisted ventilation... |
ORPHA:132 |
| Retinitis Pigmentosa 90 |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... |
OMIM:619007 |
| Cardiomyopathy, Dilated, 1D |
|
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... |
OMIM:601494 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Cardiac arrest, Splenomegal... |
ORPHA:77260 |
| Endocardial Fibroelastosis |
|
Restrictive cardiomyopathy, Congestive heart failure, Endocardial fibroelastosis |
ORPHA:2022 |
| 8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Hydronephrosis, Pulmonic stenosis |
ORPHA:251076 |
| Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Tricuspid regurgitation, Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchie... |
OMIM:620233 |
| Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... |
OMIM:614500 |
| Stargardt Disease |
|
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
| Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Maculopapular exanthema, Skin... |
ORPHA:398124 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Telangiectasia of the skin, Myocardial infarction, Peritonitis, Isch... |
ORPHA:679 |
| Retinitis Pigmentosa 88 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... |
OMIM:618826 |
| Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... |
ORPHA:179 |
| Atrial Septal Defect, Ostium Secundum Type |
|
Bundle branch block, First degree atrioventricular block, Pedal edema, Right ventricular dilatati... |
ORPHA:99103 |
| Cardiomyopathy, Familial Restrictive, 3 |
|
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... |
OMIM:612422 |
| Ataxia-Tapetoretinal Degeneration Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:1178 |
| Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema |
OMIM:180104 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Dilated cardiomyopathy, Ventricular septal defect |
ORPHA:2515 |
| Retinitis Pigmentosa 17 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:600852 |
| Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
| Hemochromatosis, Neonatal |
|
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... |
OMIM:231100 |
| Retinitis Pigmentosa 27 |
|
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... |
OMIM:613750 |
| Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Congestive h... |
ORPHA:367 |
| Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
| Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Dyspnea, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy |
ORPHA:1349 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Ventricular hypertrophy, Hepatomegaly, Apnea, Congestive heart failure, Bradycardia, Left ventric... |
OMIM:619048 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Prolonged QT interval, Tachycardia, Small for gestat... |
ORPHA:26793 |
| Familial Exudative Vitreoretinopathy |
|
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... |
ORPHA:891 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypertension, Cardiomyopathy, Abnormal aortic morphology, Arrhythmia |
ORPHA:3222 |
| Adult-Onset Nemaline Myopathy |
|
Bradykinesia, Reduced vital capacity, Dilated cardiomyopathy, Respiratory insufficiency due to mu... |
ORPHA:171442 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Left ventricular outflow tract obstruction, Tetralogy of Fallot, Coarctati... |
OMIM:615779 |
| Progressive Cone Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1871 |
| Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
| Leber Congenital Amaurosis With Early-Onset Deafness |
|
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration |
OMIM:617879 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Low-output congestive heart failure, Hypertrophic cardiomyopathy |
ORPHA:91130 |
| Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Myocarditis, Splenomegaly, ... |
ORPHA:829 |
| Carcinoid Syndrome |
|
Elevated hepatic transaminase, Tricuspid regurgitation, Right ventricular failure, Heart murmur, ... |
ORPHA:100093 |
| Cone-Rod Dystrophy 24 |
|
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... |
OMIM:620342 |
| Obesity Due To Sim1 Deficiency |
|
Cognitive impairment, Attention deficit hyperactivity disorder, Hypotension, Memory impairment, P... |
ORPHA:369873 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Ascending aortic dissection, Atrial fibrillation, Thoracic aortic aneurysm, Aortic tortuosity |
OMIM:616166 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
| Retinitis Pigmentosa 13 |
|
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... |
OMIM:600059 |
| Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Pulmonary hypoplasia, Abnormal li... |
ORPHA:3032 |
| Heart-Hand Syndrome, Slovenian Type |
|
Dilated cardiomyopathy |
OMIM:610140 |
| Naxos Disease |
|
Prolonged QRS complex, Cardiomegaly, Sudden cardiac death, Sparse eyebrow, Dilated cardiomyopathy... |
OMIM:601214 |
| Ovarian Hyperstimulation Syndrome |
|
Generalized edema, Enlarged polycystic ovaries, Hypovolemia, Capillary leak, Peripheral edema, Pl... |
ORPHA:64739 |
| Retinitis Pigmentosa 80 |
|
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels |
OMIM:617781 |
| Chorioretinal Atrophy, Progressive Bifocal |
|
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy |
OMIM:600790 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Tachypnea, Respiratory insufficiency,... |
OMIM:614299 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Hypertension, ... |
OMIM:602088 |
| Familial Progressive Cardiac Conduction Defect |
|
Bundle branch block, Heart block, Congestive heart failure, Dyspnea, Syncope, Arrhythmia |
ORPHA:871 |
| Retinitis Pigmentosa 70 |
|
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615922 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
| Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, Respiratory insufficien... |
OMIM:161800 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Alopecia, Cardiomegaly, Congestive heart failure, Splenomegaly, Telangiectasia, Car... |
OMIM:235200 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia, Hydrops fetalis |
OMIM:618815 |
| Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2246 |
| Naxos Disease |
|
Sparse scalp hair, Curly hair, Sudden cardiac death, Abnormality of hair texture, Congestive hear... |
ORPHA:34217 |
| Hypoplastic Left Heart Syndrome 1 |
|
Aortic valve stenosis, Coarctation of aorta |
OMIM:241550 |
| Long Qt Syndrome 13 |
|
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... |
OMIM:613485 |
| Retinitis Pigmentosa 50 |
|
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... |
OMIM:613194 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Cardiac arrest, Pustule, Myocard... |
ORPHA:139402 |
| Reese Retinal Dysplasia |
|
Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
| Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Patent ductus arteriosus, Aortic aneurysm |
ORPHA:261102 |
| Aortic Valve Disease 2 |
|
Aortic regurgitation, Calcification of the aorta, Coarctation of aorta, Mitral regurgitation, Asc... |
OMIM:614823 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Sudden cardiac death, Congestive heart failure, Atrioventricular reentrant tachycardia, Dilated c... |
OMIM:611705 |
| Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Exudative retinal detachment, Retinal arterial macroaneurysms |
OMIM:614224 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Dehydration, Cardiomyopathy, Lethargy |
ORPHA:79312 |
| Cardiomyopathy, Dilated, 1Ii |
|
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... |
OMIM:615184 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Truncus Arteriosus |
|
Anomalous origin of one pulmonary artery from ascending aorta, Cardiomegaly, Tachypnea, Abnormal ... |
ORPHA:3384 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, Dilated cardiomyopa... |
OMIM:619167 |
| Cardiomyopathy, Dilated, 1Nn |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... |
OMIM:615916 |
| Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
| Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Pericar... |
ORPHA:79126 |
| Q Fever |
|
Abnormal left ventricular function, Abnormality of the liver, Cholecystitis, Infectious encephali... |
ORPHA:781 |
| Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Recurrent skin infections, Herpes simplex encephalitis, Recurrent aphthous stomatit... |
OMIM:233600 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Pulmonary edema, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly |
OMIM:105210 |
| Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... |
OMIM:614921 |
| Radiation Proctitis |
|
Abnormal vascular morphology, Abnormal gastrointestinal vascular morphology, Arteritis, Hematochezia |
ORPHA:70475 |
| Retinitis Pigmentosa 69 |
|
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy |
OMIM:615780 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... |
ORPHA:300751 |
| Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia |
OMIM:614379 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly, Synophrys, Long eyelashes, Pulmonary arterial hypertension, Lethargy |
OMIM:619064 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Edema, Pulmonary embolism, Congestive heart failure, H... |
ORPHA:90308 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Poikilocytosis,... |
ORPHA:98870 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Cardiac arrest, Congestive heart failure, Paroxysmal atrial tachycardi... |
ORPHA:49827 |
| Moyamoya Disease 1 |
|
Carotid artery occlusion, Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Familial Dyskinesia And Facial Myokymia |
|
Congestive heart failure, Dilated cardiomyopathy |
ORPHA:324588 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... |
OMIM:115200 |
| Bardet-Biedl Syndrome 2 |
|
Atrial septal defect, Dilated cardiomyopathy, Bicuspid aortic valve, Obesity |
OMIM:615981 |
| Typhoid |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cardiac arrest, Splenomegaly, Abnormal pulm... |
ORPHA:99745 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
| Familial Isolated Dilated Cardiomyopathy |
|
Dilated cardiomyopathy |
ORPHA:154 |
| Mcleod Syndrome |
|
Hepatomegaly, Atrial fibrillation, Elevated circulating aspartate aminotransferase concentration,... |
OMIM:300842 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Retinitis Pigmentosa 19 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:601718 |
| Combined Oxidative Phosphorylation Deficiency 17 |
|
Congestive heart failure, Hypertrophic cardiomyopathy |
OMIM:615440 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| Cocaine Intoxication |
|
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Tachypnea, Cough, Hyperventil... |
ORPHA:90068 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Congestive heart failure, Abnorm... |
ORPHA:26791 |
| Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu... |
OMIM:619773 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Hypertension, Pulmonary hypoplasia, Left ventricular hypertrophy, Oligohydr... |
OMIM:616733 |
| Retinitis Pigmentosa 86 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... |
OMIM:618613 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... |
OMIM:251880 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Congestive heart failure, Respiratory failure, Polyhydramnios |
OMIM:616794 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Hydrops feta... |
ORPHA:45452 |
| Overhydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volume |
OMIM:185000 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4 |
|
Dilated cardiomyopathy |
OMIM:604286 |
| Idiopathic Bronchiectasis |
|
Myocardial infarction, Crackles, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Produ... |
ORPHA:60033 |
| Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Pedal edema, Aortop... |
ORPHA:2299 |
| Myopathy, Distal, 1 |
|
Dilated cardiomyopathy, Left atrial enlargement |
OMIM:160500 |
| Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:613752 |
| Retinitis Pigmentosa 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration |
OMIM:312612 |
| Bietti Crystalline Dystrophy |
|
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... |
ORPHA:41751 |
| Attrv122I Amyloidosis |
|
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
| Blue Cone Monochromatism |
|
Abnormality of retinal pigmentation |
ORPHA:16 |
| Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Congestive heart failure, Dilate... |
OMIM:611126 |
| American Trypanosomiasis |
|
Hepatomegaly, Edema, Periorbital edema, Myocarditis, Congestive heart failure, Splenomegaly, Dysp... |
ORPHA:3386 |
| Legionnaires Disease |
|
Pericarditis, Abnormal pleura morphology, Myocarditis, Jaundice, Splenomegaly, Abnormal lung morp... |
ORPHA:549 |
| Babesiosis |
|
Hepatomegaly, Myocardial infarction, Congestive heart failure, Recurrent pharyngitis, Splenomegal... |
ORPHA:108 |
| Scimitar Syndrome |
|
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, ... |
ORPHA:185 |
| Ceroid Lipofuscinosis, Neuronal, 7 |
|
Retinopathy, Pigmentary retinopathy, Optic atrophy |
OMIM:610951 |
| Retinitis Pigmentosa 79 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... |
OMIM:617460 |
| Lethal Congenital Contracture Syndrome 2 |
|
Ventricular septal defect, Polyhydramnios, Edema, Dilated cardiomyopathy, Respiratory failure |
OMIM:607598 |
| Immunodeficiency 56 |
|
Recurrent respiratory infections, Cholangitis, Chronic hepatitis due to cryptosporidium infection... |
OMIM:615207 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
|
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... |
OMIM:613838 |
| Senior-Loken Syndrome 7 |
|
Retinal degeneration |
OMIM:613615 |
| Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue |
|
Dilated cardiomyopathy, Reduced systolic function |
OMIM:616827 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Muscular Dystrophy, Duchenne Type |
|
Abnormal EKG, Hypoventilation, Respiratory insufficiency due to muscle weakness, Congestive heart... |
OMIM:310200 |
| Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Sudden cardiac death, Congestive heart fail... |
ORPHA:99901 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... |
OMIM:609015 |
| Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Congestive heart failure, Tachypn... |
ORPHA:31826 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Cardiomeg... |
ORPHA:308552 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenome... |
ORPHA:169160 |
| Usher Syndrome, Type Iv |
|
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... |
OMIM:618144 |
| Developmental And Epileptic Encephalopathy 40 |
|
Lethargy, Hyaline membranes |
OMIM:617065 |
| Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Hydrops fetalis, Ascites, Fai... |
OMIM:269920 |
| Sudden Cardiac Failure, Infantile |
|
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... |
OMIM:617222 |
| Cone Rod Dystrophy |
|
Abnormality of retinal pigmentation |
ORPHA:1872 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
OMIM:610978 |
| Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Gastrointestinal hemorrhage, Diffuse hepatic stea... |
ORPHA:2137 |
| Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Right bundle branch block, Dilated cardiomyopathy, Left ventricular systolic dysfunction |
ORPHA:206559 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... |
OMIM:251270 |
| Takayasu Arteritis |
|
Increased inflammatory response, Hypertensive crisis, Myocardial infarction, Vasculitis, Arterial... |
ORPHA:3287 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... |
ORPHA:444013 |
| Dihydrolipoamide Dehydrogenase Deficiency |
|
Lethargy, Hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:246900 |
| Autosomal Agammaglobulinemia |
|
Recurrent respiratory infections, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections,... |
ORPHA:33110 |
| Mass Syndrome |
|
Ascending aortic dissection, Aortic aneurysm |
OMIM:604308 |
| Desminopathy |
|
Supraventricular arrhythmia, Sudden cardiac death, Respiratory insufficiency due to muscle weakne... |
ORPHA:98909 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Er... |
OMIM:617021 |
| Maternally-Inherited Diabetes And Deafness |
|
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia |
ORPHA:225 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob... |
ORPHA:411703 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Abnormal aortic morphology, Multiple renal cysts, Vesicoureteral reflux... |
ORPHA:1166 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Reduced forced vital capacity, Dilated cardiomyopathy, Respiratory insufficiency due to muscle we... |
OMIM:255310 |
| Retinopathy, Pericentral Pigmentary, Autosomal Recessive |
|
Pigmentary retinopathy |
OMIM:268060 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Dyspnea, Arrhythmia, Dilated cardiomyopathy, Respiratory insufficiency |
OMIM:615084 |
| Neuropathy, Ataxia, And Retinitis Pigmentosa |
|
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy |
OMIM:551500 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormal lung morphol... |
ORPHA:47 |
| Mulibrey Nanism |
|
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Hydrops fetalis, Peric... |
OMIM:253250 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Alport Syndrome |
|
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi... |
ORPHA:63 |
| Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hepatomegaly, Dilated cardiomyopathy, Arrhythmia, Lethargy, Hypertrophic ca... |
ORPHA:254913 |
| Retinitis Pigmentosa 73 |
|
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... |
OMIM:616544 |
| Congenital Left Ventricular Aneurysm |
|
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma... |
ORPHA:1055 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia |
OMIM:613839 |
| Listeriosis |
|
Pericarditis, Osteomyelitis, Pneumonia, Pustule, Congestive heart failure, Peritonitis, Myocardit... |
ORPHA:533 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Transposition of the great arteries, Persistent left superior vena cava, Hydron... |
OMIM:314390 |
| Simple Cryoglobulinemia |
|
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... |
ORPHA:91139 |
| Congenital Enterovirus Infection |
|
Skin rash, Pericardial effusion, Myocarditis, Hepatitis, Cholestasis, Cardiomyopathy, Hypotension... |
ORPHA:292 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Abnormal heart rate... |
ORPHA:70588 |
| Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Cholelithiasis, Hypertrophic cardiomyopathy |
ORPHA:848 |
| Retinal Dystrophy And Obesity |
|
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... |
OMIM:616188 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
| Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Congestive heart failure, ... |
OMIM:203800 |
| Myopathy, Centronuclear, 5 |
|
Mitral regurgitation, Dilated cardiomyopathy, Respiratory insufficiency |
OMIM:615959 |
| Achromatopsia |
|
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Truncus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomy... |
OMIM:615415 |
| Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
| Melioidosis |
|
Shock, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infection, A... |
ORPHA:31202 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... |
ORPHA:264675 |
| Irvan Syndrome |
|
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... |
ORPHA:209943 |
| Danon Disease |
|
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
| Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Lethargy, Respiratory insufficiency, Hepatomegaly |
OMIM:618224 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair, Congestive heart failure, Abnormal heart morphology, Respiratory failur... |
ORPHA:70472 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Lethargy, Hypertrophic cardiomyopathy, Respiratory failure |
OMIM:619386 |
| Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... |
OMIM:214950 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Hepatomegaly, Cardiac arrest, Myofiber disarray, Lethargy, Hypertrophic car... |
OMIM:604377 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy |
ORPHA:276556 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgG level, Hepatomegaly, Dysgammaglobulinemia, Increased circulating IgA le... |
OMIM:308230 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal a... |
ORPHA:91387 |
| Familial Cerebral Saccular Aneurysm |
|
Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh... |
ORPHA:231160 |
| Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Abnormal left ventricular function, Hyp... |
OMIM:540000 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Respiratory insufficiency, Dehydration, Cardiomyopathy, Lethargy |
ORPHA:27 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Recurrent respiratory infections, Decreased circulating Ig... |
OMIM:618278 |
| Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Dilated cardiomyopathy |
ORPHA:34515 |
| Perry Syndrome |
|
Dementia, Hypotension |
ORPHA:178509 |
| Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorrhage, Secundum atrial septal de... |
OMIM:617397 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Ventricular hypertrophy, Hepatomegaly, Cardiac arrest, Ventricular tachycardia, Atrioventricular ... |
OMIM:212138 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Microphthalmia, Isolated 5 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... |
OMIM:611040 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatomegaly |
OMIM:618234 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Pneumonia |
OMIM:254120 |
| Graft Versus Host Disease |
|
Elevated hepatic transaminase, Tachycardia, Fasciitis, Myositis, Pneumonia, Maculopapular exanthe... |
ORPHA:39812 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5 |
|
Lethargy, Dilated cardiomyopathy |
OMIM:618120 |
| Mitochondrial Trifunctional Protein Deficiency 2 |
|
Tricuspid regurgitation, Elevated circulating aspartate aminotransferase concentration, Cerebral ... |
OMIM:620300 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Ventricular septa... |
OMIM:208085 |
| Barth Syndrome |
|
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... |
OMIM:302060 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Congestive heart failure, Dilated cardiomyopathy |
OMIM:606703 |
| Early Myoclonic Encephalopathy |
|
Recurrent respiratory infections, Lethargy |
ORPHA:1935 |
| Complement Component 4A Deficiency |
|
Vasculitis, Glomerulonephritis |
OMIM:614380 |
| Macrophage Activation Syndrome |
|
Hepatomegaly, Increased circulating interleukin 6 concentration, Increased inflammatory response,... |
ORPHA:158061 |
| Acute Lung Injury |
|
Shock, Increased circulating interleukin 6 concentration, Acute pancreatitis, Pneumonia, Diffuse ... |
ORPHA:178320 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Congestive heart failure, Splenomegaly, Dila... |
OMIM:615895 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis, Pulmonic stenosis |
OMIM:264140 |
| Idiopathic Pulmonary Arterial Hypertension |
|
Tricuspid regurgitation, Edema of the dorsum of feet, Increased pulmonary vascular resistance, Co... |
ORPHA:275766 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Edema, Sparse eyebrow, Congestive heart failure, Dilated cardiomyopat... |
OMIM:605676 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Congestive heart failure, Respiratory failure,... |
ORPHA:1194 |
| Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
| Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Congestive heart failure, Splenomegaly, Cardiomyopat... |
OMIM:613313 |
| Periventricular Nodular Heterotopia |
|
Aortic regurgitation, Patent ductus arteriosus, Aortic aneurysm |
ORPHA:98892 |
| Cardiomyopathy, Familial Hypertrophic, 26 |
|
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... |
OMIM:617047 |
| Hydrops Fetalis, Nonimmune |
|
Congestive heart failure, Nonimmune hydrops fetalis, Hydrops fetalis |
OMIM:236750 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Dilated cardiomyopathy, Respiratory fa... |
ORPHA:352447 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Hepatitis |
ORPHA:363523 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
| Oculocutaneous Albinism Type 4 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79435 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy |
ORPHA:276575 |
| Scorpion Envenomation |
|
Bundle branch block, Tachycardia, Cardiac conduction abnormality, Edema, Myocarditis, Congestive ... |
ORPHA:466677 |
| Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Bicuspid aortic valve, Edema, Cardiomegaly, Polyhydramnios, Low anterior ha... |
ORPHA:363705 |
| Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia |
OMIM:615996 |
| Malonyl-Coa Decarboxylase Deficiency |
|
Neonatal respiratory distress, Dilated cardiomyopathy, Left ventricular noncompaction cardiomyopathy |
OMIM:248360 |
| Retinal Cone Dystrophy 4 |
|
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling |
OMIM:610478 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Splenomegaly, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid hype... |
OMIM:616860 |
| Cone-Rod Dystrophy, X-Linked, 1 |
|
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... |
OMIM:304020 |
| Retinitis Pigmentosa 41 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... |
OMIM:612095 |
| Renal Hypoplasia |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ... |
ORPHA:93101 |
| Leber Congenital Amaurosis 9 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... |
OMIM:608553 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Lethargy, Hypertrophic cardiomyopathy |
ORPHA:276580 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... |
ORPHA:100057 |
| Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
| Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Keratitis, Hypersensitivity pneumonitis, Increased circulati... |
ORPHA:1163 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... |
OMIM:314400 |
| Brucellosis |
|
Anterior uveitis, Pericarditis, Osteomyelitis, Transient ischemic attack, Pneumonia, Glomerulonep... |
ORPHA:1304 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:252011 |
| Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Abnormal aortic morphology, Transposition of the ... |
ORPHA:1926 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Patent ductus ar... |
OMIM:613834 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Fusiform ascending tubular aorta aneurysm, Ascend... |
OMIM:617168 |
| Indomethacin Embryofetopathy |
|
Ventricular septal defect, Hydrops fetalis, Respiratory insufficiency, Cardiomyopathy, Atrial sep... |
ORPHA:1909 |
| Atrial Septal Defect 4 |
|
Coarctation of aorta |
OMIM:611363 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Congestive heart failure, Cardiomegaly |
OMIM:300886 |
| Leber Congenital Amaurosis 8 |
|
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... |
OMIM:613835 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... |
ORPHA:73224 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Dilated cardiomyopathy |
ORPHA:2229 |
| Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Cardiomyopathy |
OMIM:610717 |
| 6P22 Microdeletion Syndrome |
|
Patent ductus arteriosus, Hydronephrosis |
ORPHA:251046 |
| Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Arthritis, Aortic root aneurysm, Ascending tubular aorta aneurysm, Ascendin... |
OMIM:619825 |
| Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
| Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... |
ORPHA:422 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, ... |
OMIM:620306 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
| Immunodeficiency 96 |
|
Conjunctival telangiectasia, Increased proportion of gamma-delta T cells, Increased mean corpuscu... |
OMIM:619774 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... |
OMIM:616108 |
| Retinitis Pigmentosa 1 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:180100 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati... |
OMIM:607765 |
| Cyclic Vomiting Syndrome |
|
Cardiomyopathy, Lethargy |
OMIM:500007 |
| Bronchogenic Cyst |
|
Pulmonary cyst, Pneumonia, Abnormal pericardium morphology, Abnormal pleura morphology, Atelectas... |
ORPHA:2357 |
| Meacham Syndrome |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Horseshoe kidney, Coarctatio... |
OMIM:608978 |
| Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst, Right aortic arch, Transposition of the great arteries, Double outlet ri... |
OMIM:231060 |
| Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Spider hemangioma, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder,... |
ORPHA:171 |
| Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Renal insufficiency, Glomerulonephritis, Lymphocytic intersti... |
ORPHA:289390 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Ventricular septal defect, Jau... |
OMIM:613404 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Hypertens... |
OMIM:614473 |
| Eales Disease |
|
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... |
ORPHA:40923 |
| Coloboma Of Optic Nerve |
|
Retinal detachment, Optic disc coloboma |
OMIM:120430 |
| Hemorrhagic Fever-Renal Syndrome |
|
Shock, Respiratory distress, Tachycardia, Epistaxis, Pneumonia, Hematemesis, Dyspnea, Capillary l... |
ORPHA:340 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonic stenosis, Pulmonary artery atresi... |
OMIM:618780 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots |
OMIM:193230 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Dilated cardiomyopathy, Failure to thrive, Hepatic fibrosis, Pulmonary fibrosis |
OMIM:613989 |
| Glycogen Storage Disease 0, Muscle |
|
Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement |
OMIM:611556 |
| Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Portal hypertension, Nodular regenera... |
ORPHA:64743 |
| Leigh Syndrome |
|
Failure to thrive, Hepatocellular necrosis |
OMIM:256000 |
| Morning Glory Disc Anomaly |
|
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation |
ORPHA:35737 |
| Interstitial Lung Disease 2 |
|
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... |
OMIM:178500 |
| Oliver-Mcfarlane Syndrome |
|
Pigmentary retinopathy, Central heterochromia, Retinal degeneration |
OMIM:275400 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Hepatic necrosis, Interstitial pneumonitis, Budd-Chiari syndrome, Cirrhosis, Pulmonary fibrosis |
OMIM:127550 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... |
OMIM:263200 |
| Congenital Disorder Of Glycosylation, Type Iih |
|
Interface hepatitis, Elevated serum transaminases during infections, Failure to thrive in infancy... |
OMIM:611182 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cardiomyopathy, Cough, Left ventricular hypertrophy |
ORPHA:86812 |
| Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Congestive heart failure, Pneumothorax, Hepatitis, Conj... |
ORPHA:454836 |
| Bardet-Biedl Syndrome 16 |
|
Bronchiolitis, Recurrent respiratory infections, Respiratory distress |
OMIM:615993 |
| Scrub Typhus |
|
Splenomegaly, Myocarditis, Dyspnea, Restrictive ventilatory defect, Hypotension, Cough, Lethargy |
ORPHA:83317 |
| Propionic Acidemia |
|
Hepatomegaly, Apnea, Cerebellar hemorrhage, Tachypnea, Dehydration, Cardiomyopathy, Lethargy |
OMIM:606054 |
| Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L... |
OMIM:620067 |
| Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
| Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
| Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Abnormal pleura morphology, Portal hypertension, Crackles, Dyspnea, Myocardial fibrosis, Hepatosp... |
ORPHA:210136 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Recurrent upper respiratory tract infections, Biliary tract abnorma... |
OMIM:209920 |
| Pyruvate Dehydrogenase E3 Deficiency |
|
Cardiomyopathy, Abnormal cardiac ventricular function, Lethargy, Hepatomegaly |
ORPHA:2394 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly, Lethargy, Arrhythmia, Exertional dyspnea |
ORPHA:42 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Hepatomegaly, Cerebellar hemorrhage, Dehydration, Cardiomyopathy, Lethargy |
OMIM:251000 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Recurrent urinary tract infections, Orthostatic hypotension, Hypospadias, Neurogenic bladder, Sta... |
OMIM:191800 |
| Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Retinal dystrophy, Thrombocytopenia, Persi... |
OMIM:617052 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... |
OMIM:256810 |
| Cardiomyopathy, Familial Hypertrophic, 10 |
|
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri... |
OMIM:608758 |
| Leber Congenital Amaurosis 2 |
|
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... |
OMIM:204100 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Cardiomegaly, Crack... |
ORPHA:99931 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Hypochromia, Anemia |
OMIM:615234 |
| Congenital Stationary Night Blindness |
|
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... |
ORPHA:215 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Apnea, Cardiomegaly, Secundum atrial septal defect, Lymphedema, Ventricula... |
OMIM:300855 |
| Majeed Syndrome |
|
Anemia of inadequate production, Microcytic anemia, Hepatosplenomegaly, Decreased mean corpuscula... |
OMIM:609628 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Congestive heart failure, Pulmonary arterial hypertension |
OMIM:619751 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Dilated cardiomyopathy, Ventricular tachycardia, Leukonychia, Syncope, Nail dystrophy, Woolly hair |
OMIM:615821 |
| Bacterial Toxic-Shock Syndrome |
|
Shock, Tachycardia, Fasciitis, Sinusitis, Pneumonia, Myositis, Osteomyelitis, Respiratory tract i... |
ORPHA:36234 |
| Gm1-Gangliosidosis, Type I |
|
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Dilated ca... |
OMIM:230500 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Lung abscess, Abnormal pericardium morphology, Congestive heart failure, Dyspnea, Pleural empyema... |
ORPHA:67 |
| Retinitis Pigmentosa 77 |
|
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... |
OMIM:617304 |
| Choroideremia |
|
Abnormality of retinal pigmentation |
ORPHA:180 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Neonatal respiratory distress, Secundum atrial septal defect, Congestive heart failure, Cardiomyo... |
OMIM:616866 |
| Retinitis Pigmentosa 46 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels |
OMIM:612572 |
| Cone-Rod Dystrophy 3 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... |
OMIM:604116 |
| Classic Multiminicore Myopathy |
|
Right ventricular failure, Intermittent episodes of respiratory insufficiency due to muscle weakn... |
ORPHA:324604 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Tetrasomy 15Q26 |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Reduced forced vital capacity, Dilated cardiomyopathy, Abnormal left ventricular function, Restri... |
OMIM:607155 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Lethargy, Respiratory insufficiency, Dehydration, Hepatomegaly |
ORPHA:28 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Tachypnea, Atrial septal defect, Pulmonary arterial hypertension, Abnormal posturing, Lethargy |
OMIM:614857 |
| Necrotizing Enterocolitis |
|
Shock, Apnea, Edema, Abnormal heart morphology, Bradycardia, Hypotension, Lethargy, Ascites |
ORPHA:391673 |
| Hb Bart'S Hydrops Fetalis |
|
Hepatomegaly, Pericarditis, Polyhydramnios, Congestive heart failure, Splenomegaly, Hydrops fetal... |
ORPHA:163596 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... |
OMIM:606763 |
| Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
|
Dyspnea, Cardiomyopathy, Respiratory insufficiency, Global systolic dysfunction |
OMIM:606842 |
| Eisenmenger Syndrome |
|
Respiratory distress, Ventricular tachycardia, Pedal edema, Aortopulmonary window, Bacterial endo... |
ORPHA:97214 |
| Retinitis Pigmentosa 83 |
|
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... |
OMIM:618173 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Biventricu... |
OMIM:613243 |
| Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatomegaly, Sudden cardiac death, Arrhythmia, Lethargy, Hypertrophic cardiomyopathy |
ORPHA:156 |
| Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Premature graying of hair, Hypertension, Ischemic st... |
ORPHA:280679 |
| Refractory Anemia With Excess Blasts |
|
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Abnorm... |
ORPHA:86839 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis |
OMIM:247990 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Pulmonary hypoplasia, Hepatic periportal necrosis, Hepatic steatosis |
OMIM:231680 |
| Cardiogenic Shock |
|
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... |
ORPHA:97292 |
| Myopia 3, Autosomal Dominant |
|
Retinal detachment |
OMIM:603221 |
| Myopia 2, Autosomal Dominant |
|
Retinal detachment |
OMIM:160700 |
| Myopia 5, Autosomal Dominant |
|
Retinal detachment |
OMIM:608474 |
| Myopia 25, Autosomal Dominant |
|
Retinal detachment |
OMIM:617238 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Congestive heart failure, Patent ductus arteriosus, Recurrent pneumoni... |
OMIM:617303 |
| Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
| Retinitis Pigmentosa 92 |
|
Pigmentary retinopathy |
OMIM:619614 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure |
ORPHA:53296 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Tricuspid regurgitation, Congestive heart failure, Respiratory insufficiency, Cardiomyopathy, Mit... |
ORPHA:746 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... |
ORPHA:79127 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Telangiectasia of the skin, Abnormal cerebral vascular morphology, Seborrheic dermatitis, Nephrob... |
ORPHA:276280 |
| Tricuspid Atresia |
|
Pulmonary artery atresia, Persistent left superior vena cava, Transposition of the great arteries... |
ORPHA:1209 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Reduced vital capacity, Cardiac shunt, Edema, Pulmonary embolism, Right ventricular failure, Incr... |
ORPHA:70591 |
| Congenital Tracheomalacia |
|
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... |
ORPHA:95430 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney |
OMIM:618272 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Congestive heart failure, Arrhythmia, Respiratory insufficiency |
ORPHA:157973 |
| Febrile Infection-Related Epilepsy Syndrome |
|
Lethargy, Sinusitis, Cough |
ORPHA:163703 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium morphology, ... |
ORPHA:183 |
| Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Congestive heart failure |
OMIM:301021 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Patent ductus arteriosus, Abnormal aortic arch morphology |
ORPHA:1455 |
| Kawasaki Disease |
|
Pericarditis, Abnormal heart valve morphology, Skin rash, Myocarditis, Jaundice, Vasculitis, Cong... |
ORPHA:2331 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Recurrent respiratory infections, Failure to thrive in infancy, Portal hypertension... |
OMIM:613385 |
| Retinitis Pigmentosa 49 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:613756 |
| Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension |
OMIM:210050 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dil... |
OMIM:208000 |
| Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Hepatic fib... |
OMIM:232400 |
| Hellp Syndrome |
|
Generalized edema, Cerebral hemorrhage, Hypotension, Pleural effusion, Internal hemorrhage, Pulmo... |
ORPHA:244242 |
| Temtamy Syndrome |
|
Aortic aneurysm |
ORPHA:1777 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... |
ORPHA:506353 |
| Fabry Disease |
|
Conjunctival telangiectasia, Bundle branch block, Lymphedema, Atrioventricular block, Emphysema, ... |
ORPHA:324 |
| Congenital Aortic Valve Stenosis |
|
Thoracic aortic aneurysm, Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart mur... |
ORPHA:3093 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Left-to-right shunt, Ventricular septal defect, Congestive hear... |
ORPHA:99050 |
| Aortic Valve Disease 3 |
|
Aortic root aneurysm, Ascending aortic dissection, Aortic valve stenosis |
OMIM:618496 |
| Retinitis Pigmentosa 12 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... |
OMIM:600105 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Pleural effusion, A... |
OMIM:614702 |
| Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Retinal pigment epithelial mottling, Optic disc pallor |
OMIM:619389 |
| Immune-Mediated Necrotizing Myopathy |
|
Raynaud phenomenon, Myocarditis, Congestive heart failure, Abnormal pulmonary interstitial morpho... |
ORPHA:206569 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Nonimmune hydrops fetalis, Cardiomyopathy, Pulmonary hypoplasia, P... |
OMIM:619003 |
| Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Abnormal atrial arrangement, A... |
ORPHA:244 |
| Retinitis Pigmentosa 10 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... |
OMIM:180105 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Portal hypertension, Cardiomegaly, Congestive heart failure, Splenomegaly, Cardiomy... |
ORPHA:465508 |
| 3-Methylglutaconic Aciduria Type 4 |
|
Cardiomyopathy, Failure to thrive, Decreased liver function |
ORPHA:67048 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Ureteral duplication, Hepatomegaly, Renal insufficiency, Long-chain dicarboxylic... |
OMIM:608836 |
| Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Hypersplenism, High-output congestive heart failure, Jaundice, Dila... |
ORPHA:231226 |
| Retinitis Pigmentosa 58 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... |
OMIM:613617 |
| Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Elevated ... |
OMIM:619573 |
| Propionic Acidemia |
|
Propionyl-CoA carboxylase deficiency, Hepatomegaly, Arrhythmia, Cardiomyopathy |
ORPHA:35 |
| Methylcobalamin Deficiency Type Cble |
|
Macrocytic anemia, Increased mean corpuscular volume, Pancytopenia, Neutropenia |
ORPHA:2169 |
| Retinitis Pigmentosa 2 |
|
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... |
OMIM:312600 |
| Idiopathic Hypereosinophilic Syndrome |
|
Cholangitis, Pulmonary embolism, Intracranial hemorrhage, Colitis, Raynaud phenomenon, Dilated ca... |
ORPHA:3260 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation, Hypertrophic cardiomyo... |
OMIM:620326 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... |
OMIM:616414 |
| Retinitis Pigmentosa 56 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... |
OMIM:613581 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Decreased circulating IgG level, Hepatomegaly, Recurrent respiratory infections, Dysgammaglobulin... |
OMIM:308240 |
| Relapsing Polychondritis |
|
Abnormal endocardium morphology, Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myoc... |
ORPHA:728 |
| Combined Oxidative Phosphorylation Deficiency 22 |
|
Congestive heart failure, Pulmonary arterial hypertension |
OMIM:616045 |
| Morbid Obesity And Spermatogenic Failure |
|
Congestive heart failure, Hypertension, Myocardial infarction |
OMIM:615703 |
| Loeys-Dietz Syndrome 6 |
|
Carotid artery dissection, Thoracic aortic aneurysm, Knee osteoarthritis, Varicose veins, Dilatat... |
OMIM:619656 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitia... |
OMIM:612387 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Patent foramen ovale... |
OMIM:614582 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... |
OMIM:619343 |
| Retinitis Pigmentosa 43 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... |
OMIM:613810 |
| Ogden Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Fine hair, Lethargy, Cardiogenic shock, Arr... |
ORPHA:276432 |
| Retinitis Pigmentosa 45 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:613767 |
| Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Bronchitis, Abnormality of the spleen, Lymphadenitis, Infectiou... |
ORPHA:2552 |
| Transaldolase Deficiency |
|
Hepatosplenomegaly, Abnormality of the kidney, Coarctation of aorta, Telangiectasia |
ORPHA:101028 |
| 22Q11.2 Duplication Syndrome |
|
Urethral stenosis, Transposition of the great arteries, Interrupted aortic arch, Displacement of ... |
ORPHA:1727 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... |
ORPHA:1303 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Lethargy |
ORPHA:71277 |
| Dystonia 31 |
|
Abnormal posturing, Depression |
OMIM:619565 |
| Glut1 Deficiency Syndrome 1 |
|
Lethargy, Paroxysmal lethargy |
OMIM:606777 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Aortic regurgitation, Bicuspid aortic valve, Thick hair, Highly arched eyebrow, Dilated cardiomyo... |
ORPHA:401923 |
| Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Aortic regurgitation, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, Mitral regu... |
ORPHA:2326 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Pigmentary retinopathy |
OMIM:617613 |
| Congenital Muscular Dystrophy, Fukuyama Type |
|
Dilated cardiomyopathy |
ORPHA:272 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Sudden episodic apnea, Ventricular tachycardia, Respiratory insufficiency, Cardiomy... |
ORPHA:159 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Absent eyelashes, Congestive... |
ORPHA:363618 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
| Timothy Syndrome |
|
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... |
OMIM:601005 |
| Cardiomyopathy, Dilated, 2E |
|
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Reduced systolic function |
OMIM:619492 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Oligohydramnios, Abnormal... |
ORPHA:1143 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... |
ORPHA:140896 |
| Severe Early-Childhood-Onset Retinal Dystrophy |
|
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... |
ORPHA:364055 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Increased circulating interleukin 6 concentration, Dilated cardiomyopathy, Panniculitis, Cystic a... |
OMIM:608068 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Abnormality of retinal pigmentation, Iris coloboma |
ORPHA:1259 |
| Nipah Virus Disease |
|
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough |
ORPHA:99825 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Aortic regurgitation, Ventricular septal defect, Congestive heart failure, Dyspnea, Bronchiectasi... |
OMIM:123700 |
| Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... |
OMIM:301500 |
| Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Skin rash, Pneumonia, Chilblains, Pericardial effusion, Hematem... |
OMIM:615846 |
| Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
| Arterial Tortuosity Syndrome |
|
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Myocardi... |
ORPHA:3342 |
| Recombinant Chromosome 8 Syndrome |
|
Patent ductus arteriosus, Pulmonic stenosis, Double outlet right ventricle, Tetralogy of Fallot, ... |
OMIM:179613 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Recurrent respiratory infections, Psoriasiform dermatitis, Ventricular septal defect, Enterocolit... |
OMIM:243150 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Patent ductus arteriosus, Hydronephrosis |
OMIM:619797 |
| Polyarteritis Nodosa |
|
Pericarditis, Raynaud phenomenon, Abnormal lung morphology, Weight loss, Cardiomyopathy, Hyperten... |
ORPHA:767 |
| Aneurysm Of Sinus Of Valsalva |
|
Aortic regurgitation, Edema, Congestive heart failure, Dyspnea, Heart murmur, Bacterial endocardi... |
ORPHA:1054 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Tachycardia, Apnea, Dyspnea, Lethargy, Hyperventilation |
OMIM:229700 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor, Abnormal cardiac septum morphology |
ORPHA:2374 |
| Evans Syndrome |
|
Dyspnea, Lethargy, Syncope, Epistaxis |
ORPHA:1959 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Hypertension, Recurrent pneumonia, Coarctation of aorta |
OMIM:616069 |
| Prune Belly Syndrome |
|
Patent ductus arteriosus, Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
| Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
| Alpha-1-Antitrypsin Deficiency |
|
Chronic bronchitis, Splenomegaly, Panacinar emphysema, Dyspnea, Chronic pulmonary obstruction, Br... |
OMIM:613490 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Hypoplastic pulmonary veins, Left ventricular outflow tract obstruction, Coarctation of aorta, Ri... |
OMIM:613854 |
| Hypotaurinemic Retinal Degeneration And Cardiomyopathy |
|
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... |
OMIM:145350 |
| Oculocutaneous Albinism Type 2 |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... |
ORPHA:79432 |
| 3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Head titubation, Lethargy, Tetralogy of Fallot |
OMIM:250620 |
| Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Small for gestational age, Chronic hepatitis, Colitis, Cirrhosis, Failure to thrive |
OMIM:614602 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Lethargy |
ORPHA:79283 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Eczema, Portal hypertension, Raynaud phen... |
OMIM:615688 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Pneumothora... |
ORPHA:1302 |
| Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Splenomegaly, Vasculitis, Arthritis, ... |
ORPHA:91138 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly |
OMIM:266500 |
| Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
| H Syndrome |
|
Psoriasiform dermatitis, Abnormality of the kidney, Abnormal cardiovascular system physiology, Br... |
ORPHA:168569 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect, Congestive heart failure, Highly arched eyebrow, Polyhydramnios |
ORPHA:500533 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Truncus arteriosus, Abnormal aortic morphology, Renal agenesis, Renal hypoplasia/aplasia |
ORPHA:2516 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta |
OMIM:601612 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Liver abscess, Cholangitis, Bronchitis, Cholecystitis, Decreased circulating I... |
ORPHA:183675 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Abnormal heart morphology |
OMIM:614100 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Lethargy, Arrhythmia, Cardiomegaly |
OMIM:255120 |
| Chronic Mucocutaneous Candidiasis |
|
Abnormal endocardium morphology, Recurrent respiratory infections, Skin rash, Cheilitis, Hepatitis |
ORPHA:1334 |
| Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Myotonia, Sudden cardiac death, Supraventricular arrhythmia, Dilated c... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Myotonia, Sudden cardiac death, Supraventricular arrhythmia, Dilated c... |
ORPHA:98853 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Lethargy |
ORPHA:622 |
| Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio... |
ORPHA:555874 |
| Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Respiratory distress |
OMIM:616974 |
| Infantile Liver Failure Syndrome 2 |
|
Cardiomyopathy, Lethargy |
OMIM:616483 |
| Agammaglobulinemia, X-Linked |
|
Decreased circulating IgE, Conjunctivitis, Decreased circulating IgG level, Infectious encephalit... |
OMIM:300755 |
| Bornholm Eye Disease |
|
Abnormality of retinal pigmentation, Optic nerve hypoplasia |
OMIM:300843 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Unilateral renal agenesis, Renal hypoplasia, Coarctation of aorta, Recurrent otitis media, Persis... |
OMIM:618494 |
| Japanese Encephalitis |
|
Respiratory distress, Irregular respiration, Respiratory paralysis, Abnormal pattern of respirati... |
ORPHA:79139 |
| Primary Effusion Lymphoma |
|
Pericardial effusion, Dyspnea, Pleural effusion |
ORPHA:48686 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Lethargy, Apnea, Respiratory insufficiency, Hepatomegaly |
OMIM:618226 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Recurrent upper respiratory tract infections, Asymmetri... |
OMIM:252920 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating interleukin 6 concentration, M... |
ORPHA:540 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Lethargy |
OMIM:237310 |
| Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Jaundice |
ORPHA:858 |
| Dengue Fever |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Cerebral hemorrhage, Cardiorespiratory arre... |
ORPHA:99828 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Polyhydramnios, Cardiomyopathy, Respiratory failure, Lethargy |
OMIM:614922 |
| Collagenoma, Familial Cutaneous |
|
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... |
OMIM:115250 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Cardiomyopathy, Mitral regurgitation, Dilated cardiomyopathy, Telangiectasia of the skin |
OMIM:212112 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Double outlet right ventricle, Pulmonic stenosis, Aortic valve stenosis, Tetralogy o... |
OMIM:220210 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Myotonia, Sudden cardiac death, Supraventricular arrhythmia, Dilated c... |
ORPHA:98855 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... |
ORPHA:324410 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute hepatitis, Failure to thrive, Decreased liver function, Hepatomegaly |
OMIM:238970 |
| Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement |
|
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma |
ORPHA:2196 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Portal hypertension, Splenomegaly, Patent ductus arteriosus, U... |
OMIM:208540 |
| Postinfectious Vasculitis |
|
Cerebral vasculitis, Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative... |
ORPHA:48435 |
| Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Prolonged QT interval, Microvesicular hepatic steatosis, Muscular ... |
ORPHA:66634 |
| Retinitis Pigmentosa 25 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... |
OMIM:602772 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Bradykinesia, Apathy, Respiratory distress, Depression |
ORPHA:240085 |
| Primary Biliary Cholangitis |
|
Orthostatic hypotension, Portal hypertension, Increased circulating IgA level, Jaundice, Hepatiti... |
ORPHA:186 |
| Juvenile Temporal Arteritis |
|
Vasculitis, Conjunctivitis, Allergic rhinitis, Cerebral ischemia |
ORPHA:26137 |
| Cone-Rod Dystrophy 8 |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... |
OMIM:605549 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Lethargy |
OMIM:613710 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Atelectasis, Right bundle branch block, Pulmonary fibrosis, Bronchiolitis, Exertional dyspnea |
ORPHA:254361 |
| Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
| Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
| Attrv30M Amyloidosis |
|
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia |
ORPHA:85447 |
| Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Tachycardia, Syncope, Palpitations, Lethargy |
ORPHA:324575 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Mitral atresia, Highly arched eyebrow, Tachypnea, Aortic valve atresia, Lo... |
OMIM:220111 |
| Cednik Syndrome |
|
Congestive heart failure |
ORPHA:66631 |
| Methylmalonic Acidemia With Homocystinuria |
|
Lethargy |
ORPHA:26 |
| Cardiomyopathy, Familial Hypertrophic, 2 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc... |
OMIM:115195 |
| Cutis Laxa-Marfanoid Syndrome |
|
Emphysema, Abnormal heart valve morphology |
ORPHA:171719 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Elevated left ventricular end... |
OMIM:620152 |
| Myopia 28, Autosomal Recessive |
|
Retinal detachment |
OMIM:619781 |
| Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
| Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Pigmentary retinopathy |
OMIM:619090 |
| Oculocutaneous Albinism Type 1B |
|
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... |
ORPHA:79434 |
| Cardiomyopathy, Familial Hypertrophic, 17 |
|
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp... |
OMIM:613873 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
| C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Atelectasis, Bronchiectasis, Arthritis, Vasculitis in the skin, R... |
OMIM:620321 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hepatomegaly, Apnea, Cardiac arrest, Edema, Dilated cardiomyopathy, Tachypnea, Dehydration, Apath... |
ORPHA:20 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Elevated hepatic transaminase, Ventricular hypertrophy, Left atrial enlargement, Elevated circula... |
OMIM:300280 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Lethargy, Apnea |
OMIM:618225 |
| Developmental And Epileptic Encephalopathy 92 |
|
Lethargy |
OMIM:617829 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Lethargy, Cerebral ischemia, Hepatomegaly |
ORPHA:927 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Patent ductus arteriosus, Hypoplastic aortic arch, Do... |
OMIM:306955 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth... |
ORPHA:2902 |
| Pseudoxanthoma Elasticum |
|
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... |
OMIM:264800 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Epistaxis, Splenomegaly, Hepatosplenomegaly, Subconjunctival hemorrhage, Abn... |
ORPHA:464329 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Dilated cardiomyopathy, Bradycardia, Aspiration |
OMIM:610768 |
| Allergic Bronchopulmonary Aspergillosis |
|
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema |
ORPHA:1164 |
| Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypertrophic cardio... |
OMIM:620135 |
| Vitreoretinochoroidopathy |
|
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... |
OMIM:193220 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Failure to thrive in infancy, Hypersplenism, High-output congestive heart failure, ... |
ORPHA:231214 |
| Hemochromatosis, Type 4 |
|
Hepatomegaly, Osteoarthritis, Cardiomyopathy, Cirrhosis, Arrhythmia, Hepatic steatosis |
OMIM:606069 |
| Methimazole Embryofetopathy |
|
Abnormal aortic morphology, Hypospadias, Coarctation of aorta |
ORPHA:1923 |
| Inhalational Anthrax |
|
Confusion, Internal hemorrhage, Hypotension |
ORPHA:247257 |
| Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... |
OMIM:618549 |
| Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Increased mean corpuscular volume, Megaloblastic anemia |
OMIM:277410 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Laing Early-Onset Distal Myopathy |
|
Dilated cardiomyopathy |
ORPHA:59135 |
| Alkaptonuria |
|
Coronary artery calcification, Elevated urinary homogentisic acid, Nephrolithiasis, Arthritis, De... |
OMIM:203500 |
| Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Pulmonary insufficiency, Tricuspid regurgitation, Pulmonic stenosis, Restrictive ca... |
OMIM:619433 |
| Giant Cell Arteritis |
|
Pericarditis, Renal insufficiency, Epistaxis, Sudden cardiac death, Vasculitis, Hematuria, Arthri... |
ORPHA:397 |
| Jalili Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... |
OMIM:217080 |
| Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Peripapillary a... |
OMIM:618195 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Atrial fibrillation, Bipolar affective disorder, Edema, Dilated cardiomyopathy, Respiratory insuf... |
ORPHA:254892 |
| Mucopolysaccharidosis Type 1 |
|
Recurrent respiratory infections, Sinusitis, Abnormal heart valve morphology, Apnea, Congestive h... |
ORPHA:579 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Tubulointerstitial nephritis, Colitis, Psoriasiform dermatitis, Hepatitis, Elevated hep... |
ORPHA:37042 |
| Glycine Encephalopathy 1 |
|
Lethargy |
OMIM:605899 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
| Conotruncal Heart Malformations |
|
Truncus arteriosus, Transposition of the great arteries, Double outlet right ventricle, Coarctati... |
OMIM:217095 |
| Fragile X Syndrome |
|
Chronic otitis media, Ascending tubular aorta aneurysm, Sinusitis, Otitis media |
ORPHA:908 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
| Capillary Malformation-Arteriovenous Malformation |
|
Epistaxis, Nonimmune hydrops fetalis, Lymphedema, High-output congestive heart failure, Congestiv... |
ORPHA:137667 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Lethargy |
OMIM:274270 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
ORPHA:596 |
| Microphthalmia, Syndromic 9 |
|
Renal malrotation, Patent ductus arteriosus, Renal hypoplasia, Horseshoe kidney, Coarctation of a... |
OMIM:601186 |
| 16P13.11 Microduplication Syndrome |
|
Tetralogy of Fallot, Transposition of the great arteries, Coarctation of aorta |
ORPHA:261243 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
| Idiopathic Congenital Hypothyroidism |
|
Facial edema, Lethargy, Bradycardia |
ORPHA:95717 |
| Eem Syndrome |
|
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy |
ORPHA:1897 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
| Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... |
ORPHA:99094 |
| Cone-Rod Dystrophy 20 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina |
OMIM:615973 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cerebral hemorrhage, Dilated cardiomyopathy, Abnormal left ventricle morphology, Premature grayin... |
OMIM:300845 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Increased circulating interleukin 6 concentration, ... |
ORPHA:3243 |
| Medullary Thyroid Carcinoma |
|
Neoplasm of the lung, Weight loss, Abnormal liver parenchyma morphology |
ORPHA:1332 |
| Mucopolysaccharidosis, Type Ii |
|
Hepatomegaly, Abnormal heart valve morphology, Congestive heart failure, Splenomegaly, Recurrent ... |
OMIM:309900 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Pulmonary Hypertension, Primary, 1 |
|
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis, White hair, Atrial septal defect, Thick eyebrow |
ORPHA:896 |
| 16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Optic nerve hypoplasia, Thrombocytopenia |
ORPHA:261250 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Lethargy, Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Hepatosplenomegaly, Hemolytic anemia, Decreased mean corpuscular volume, Reticulocytosis |
OMIM:611590 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2743 |
| Pontocerebellar Hypoplasia, Type 6 |
|
Lethargy, Apnea |
OMIM:611523 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Lethargy, Edema |
OMIM:610498 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen... |
ORPHA:228426 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Lethargy, Tachycardia |
ORPHA:276608 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Skin rash, Eczema, Raynaud phenomenon, Bronchiectasis, Keratoconjunctivitis sicca, ... |
ORPHA:79128 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cardiomyopathy, Congestive heart failure, Weakness of muscles of respiration |
ORPHA:52430 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... |
ORPHA:505248 |
| Congenital Isolated Acth Deficiency |
|
Hepatitis, Hypotension, Prolonged neonatal jaundice |
ORPHA:199296 |
| Maternal Uniparental Disomy Of Chromosome X |
|
Congestive heart failure, Predominantly lower limb lymphedema, Low posterior hairline |
ORPHA:261519 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Deep dermal perivascular inflammatory infiltrate, Psoriasiform dermatitis, D... |
ORPHA:49041 |
| Acute Liver Failure |
|
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Shock, Skin rash, Jaundice, Hepatitis... |
ORPHA:90062 |
| Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Res... |
OMIM:619611 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczema, Congestive heart failure, Recurrent upper respirato... |
ORPHA:391487 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Telangiectasia of the skin, Congestive heart failure, Dyspnea, Xerostomia, Pulmonary fibrosis, Pu... |
ORPHA:220393 |
| Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis |
ORPHA:1390 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Thoracic aortic aneurysm, Patent ductus arteriosus, Peritonitis, Megacystis, Pyelonephrit... |
OMIM:619351 |
| Williams-Beuren Region Duplication Syndrome |
|
Chronic otitis media, Patent ductus arteriosus, Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Telangiecta... |
OMIM:175050 |
| Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Infectious encephalitis, Nephritis, At... |
ORPHA:73263 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Dilated cardiomyopathy, Left ventricular hypertrophy, Lethargy, Cerebral edema |
OMIM:618321 |
| Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... |
ORPHA:101330 |
| Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent respiratory infections, Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous... |
ORPHA:572 |
| Abetalipoproteinemia |
|
Retinopathy, Retinal degeneration, Acanthocytosis |
OMIM:200100 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress |
OMIM:616341 |
| Phace Association |
|
Anomalous branches of internal carotid artery, Patent ductus arteriosus, Arterial stenosis, Coarc... |
OMIM:606519 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Gout, Hypertension, Focal segmental glomerulosclerosi... |
OMIM:232200 |
| Galloway-Mowat Syndrome 7 |
|
Dilated cardiomyopathy, Ventricular septal defect, Edema |
OMIM:618348 |
| Non-Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin |
ORPHA:141179 |
| Severe Canavan Disease |
|
Lethargy |
ORPHA:314911 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Facial hirsutism, Atrial se... |
OMIM:619383 |
| Spinocerebellar Ataxia 7 |
|
Macular degeneration, Optic atrophy, Pigmentary retinopathy |
OMIM:164500 |
| Erdheim-Chester Disease |
|
Abnormal pericardium morphology, Congestive heart failure, Dyspnea, Abnormal pulmonary interstiti... |
ORPHA:35687 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Polyhydramnios, Edema, Recurrent upper respiratory tract infections, Recurr... |
OMIM:607143 |
| Leber Congenital Amaurosis 1 |
|
Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels |
OMIM:204000 |
| Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Cardiomyopathy, Cirrhosis, Arthritis |
OMIM:604250 |
| Liver Disease, Severe Congenital |
|
Hepatomegaly, Dry hair, Ventricular septal defect, Left atrial enlargement, Pneumonia, Cardiomega... |
OMIM:619991 |
| Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
| Benign Samaritan Congenital Myopathy |
|
Lethargy, Abnormal respiratory system physiology |
ORPHA:324581 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Gout, Hypertension, Inflammation of the... |
OMIM:232220 |
| Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Ventricular septal defect, Congestive heart failure, Splenomega... |
ORPHA:354 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Lethargy, Hepatomegaly |
ORPHA:289916 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Congestive heart failure, Tachycardia, Exertional dyspnea |
ORPHA:90037 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Enlar... |
ORPHA:251004 |
| Glycogen Storage Disease Iv |
|
Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Hepatic failure, Failure to t... |
OMIM:232500 |
| Colchicine Poisoning |
|
Respiratory distress, Alopecia, Myocarditis, Congestive heart failure, Hypovolemia, Dehydration, ... |
ORPHA:31824 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... |
ORPHA:90065 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Lethargy, Apneic episodes in infancy |
OMIM:610006 |
| Andersen-Tawil Syndrome |
|
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... |
ORPHA:37553 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Hepatomegaly, Recurrent urinary tract infections, Recurrent skin infections, Splenomegaly, Coarct... |
OMIM:620210 |
| Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... |
ORPHA:99104 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Coarctation of aorta |
OMIM:212090 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Depression, Congestive heart failure, Cardiomegaly |
OMIM:619259 |
| Tropical Endomyocardial Fibrosis |
|
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
| Nephrotic Syndrome, Type 11 |
|
Dilated cardiomyopathy, Ventricular septal defect, Minimal change glomerulonephritis |
OMIM:616730 |
| Slc35A1-Cdg |
|
Respiratory distress, Hypoxemia, Pneumonia, Pulmonary hemorrhage |
ORPHA:238459 |
| Temtamy Syndrome |
|
Aortic regurgitation, Aortic aneurysm |
OMIM:218340 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Recurrent respiratory infections, Hepatitis, Abnormal pleura morphology |
ORPHA:584 |
| Distal Triplication 15Q |
|
Abnormality of the kidney, Patent ductus arteriosus, Hypoplastic aortic arch, Dilatation of the r... |
ORPHA:314588 |
| Tularemia |
|
Respiratory distress, Tachycardia, Pneumonia, Cough, Pleural effusion |
ORPHA:3392 |
| Gaba-Transaminase Deficiency |
|
Lethargy |
OMIM:613163 |
| Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Em... |
ORPHA:36412 |
| Rapidly Involuting Congenital Hemangioma |
|
Congestive heart failure, Telangiectasia of the skin |
ORPHA:141184 |
| Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Decreased circulating antibody level |
ORPHA:381 |
| Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia, Aortic aneurysm |
ORPHA:35125 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
OMIM:264470 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Abnormal heart valve morphology, Splenomegaly, Cardiomyopathy, Rhinitis |
ORPHA:93476 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Polyhydramnios, Secundum atrial septal defect, Situs inversus totalis, Pulm... |
OMIM:202650 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Dilated cardiomyopathy |
OMIM:602541 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Lethargy |
OMIM:617900 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Orthopnea, Transient ischemic attack, Cardiomegaly, Respirato... |
ORPHA:365 |
| Cone-Rod Dystrophy 10 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:610283 |
| Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 |
|
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... |
OMIM:609040 |
| Retinitis Pigmentosa 3 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence |
OMIM:300029 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Increased circulating IgG level, Colitis, Decreased circulating IgG level, Hepatomegaly,... |
ORPHA:3261 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Patent ductus arteriosus, Hydronephrosis |
OMIM:300048 |
| Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Pneumonia, Right... |
ORPHA:97287 |
| Sjögren-Larsson Syndrome |
|
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... |
ORPHA:816 |
| Noonan Syndrome 9 |
|
Hydroureter, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
| Glutathione Synthetase Deficiency |
|
Pigmentary retinopathy |
OMIM:266130 |
| Senior-Loken Syndrome |
|
Abnormality of retinal pigmentation, Retinal dystrophy |
ORPHA:3156 |
| Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
| Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Stroke-like episode, Cardiomyopathy, Hydronephrosis |
OMIM:222300 |
| Spondyloenchondrodysplasia |
|
Skin rash, Pneumonia, Raynaud phenomenon, Vasculitis, Hepatitis, Hypertension, Arthritis, Juvenil... |
ORPHA:1855 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Overriding aorta, Abnormal renal morphology, Double outlet right ventricle, Persistent left super... |
ORPHA:477817 |
| Coats Disease |
|
Exudative retinal detachment, Leukocoria, Retinal telangiectasia |
OMIM:300216 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Ventricular hypertrophy, Cardiomyopathy, Reduced car... |
ORPHA:228305 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Hepatomegaly, Dyspnea, Dilated cardiomyopathy, Concentric hypertrophic cardiomyopathy, Respirator... |
OMIM:610505 |
| Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, First degree atrioventricular block, Jaundice, Hepatitis, ... |
ORPHA:509 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Urinary incontinence, Aortic aneurysm |
OMIM:620070 |
| Congenital Tricuspid Stenosis |
|
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... |
ORPHA:95459 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Cholera |
|
Tachycardia, Tachypnea, Dehydration, Hypovolemic shock, Hypotension, Aspiration pneumonia, Lethar... |
ORPHA:173 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Ascending tubular aorta aneurysm, Bladder diverticulum, Vascular tortuosity, Supravalvular aortic... |
OMIM:219100 |
| X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
| Diabetes And Deafness, Maternally Inherited |
|
Pigmentary retinopathy, Retinal degeneration |
OMIM:520000 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Lethargy |
OMIM:613002 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Abnormal heart morphology, Asp... |
ORPHA:314655 |
| Shwachman-Diamond Syndrome |
|
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... |
ORPHA:811 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia |
ORPHA:464453 |
| Gaucher Disease |
|
Hepatomegaly, Mitral valve calcification, Osteomyelitis, Abnormal heart valve morphology, Abnorma... |
ORPHA:355 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Anisopoikilocytosis, Reticulocytopenia, Hepatosplenomegaly, Decreased mean corpuscular volume, Dy... |
ORPHA:300298 |
| Al Amyloidosis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal EKG, Abnormal cardiac ventricle morphology, J... |
ORPHA:85443 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
| Heimler Syndrome 1 |
|
Macular dystrophy, Retinal pigment epithelial mottling |
OMIM:234580 |
| Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1117 |
| Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... |
ORPHA:124 |
| Vici Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Albinism, Congestive heart failure, D... |
OMIM:242840 |
| Retinitis Punctata Albescens |
|
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... |
ORPHA:52427 |
| Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Gout, Hy... |
ORPHA:3467 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress |
OMIM:619099 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Pigmentary retinopathy, Retinal degeneration |
ORPHA:3363 |
| Wild Type Abeta2M Amyloidosis |
|
Gastrointestinal hemorrhage, Congestive heart failure, Arrhythmia |
ORPHA:85446 |
| Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Patent ductus arteriosus, Stroke, Unilateral renal agenesis |
OMIM:618188 |
| Kearns-Sayre Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:480 |
| Atransferrinemia |
|
Congestive heart failure |
OMIM:209300 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eczema, Glomerulonephritis, Increased circulating IgE level, Hepatitis, Arthritis, Erythroderma, ... |
OMIM:304790 |
| Congenital Myopathy 19 |
|
Renal atrophy, Hydronephrosis |
OMIM:618578 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Descending aortic dissection, Osteoarthritis, Ascending aortic dissection, Bronchiectasis |
OMIM:620080 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Ventricular septal defect, Pulmonary hypoplasia |
OMIM:617895 |
| Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Cardiomyopathy, Arrhythmia, Respiratory insufficiency |
OMIM:612999 |
| Retinitis Pigmentosa 51 |
|
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... |
OMIM:613464 |
| Mercury Poisoning |
|
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f... |
ORPHA:330021 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert... |
ORPHA:263297 |
| Lujo Hemorrhagic Fever |
|
Shock, Respiratory distress, Crackles, Facial edema, Myocarditis, Atelectasis, Periorbital edema,... |
ORPHA:319213 |
| Cofs Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1466 |
| Isovaleric Acidemia |
|
Lethargy, Cerebellar hemorrhage, Dehydration |
OMIM:243500 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hypertension, Nephrotic syndrome, Fo... |
OMIM:194080 |
| Chitayat Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Abnormal pulmonary inters... |
OMIM:617180 |
| Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Recurrent respiratory infections, Failure to thrive in infancy, Pn... |
ORPHA:1572 |
| Retinitis Pigmentosa 60 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... |
OMIM:613983 |
| Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Lethargy, Alopecia, Tachypnea |
ORPHA:79242 |
| Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Neoplasm of the lung, Stridor, Cough |
ORPHA:142 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress |
OMIM:620011 |
| Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis, Pulmonic stenosis, Facial telangiectasia |
OMIM:620141 |
| Retinitis Pigmentosa 72 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... |
OMIM:616469 |
| Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Paroxysmal atrial fibrillation, Hypercapnia, Reduced forced vital capacity,... |
OMIM:164310 |
| Retinitis Pigmentosa 14 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... |
OMIM:600132 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai... |
OMIM:300952 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Splenomegaly, Congestive heart failure, Hypertrophic cardiomyopathy, Generalized hi... |
ORPHA:2348 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Persistent fetal circulation, Medial flaring of the eyebrow, Respiratory distress, Tricuspid regu... |
OMIM:612863 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Right ventricular dilata... |
OMIM:619705 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Polyhydramnios, Edema |
ORPHA:1423 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Cardiac conduction abnormality, Abnormality of Krebs cycle metabolism, Dilated card... |
ORPHA:255210 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Recurrent lower respiratory tract infections, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Waldenström Macroglobulinemia |
|
Gastrointestinal hemorrhage, Hepatomegaly, Epistaxis, Periorbital edema, Congestive heart failure... |
ORPHA:33226 |
| Chromosome 18Q Deletion Syndrome |
|
Recurrent respiratory infections, Absence of the pulmonary valve, Ventricular septal defect, Cong... |
OMIM:601808 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
| Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Melena, Incr... |
ORPHA:319218 |
| Martsolf Syndrome 1 |
|
Recurrent respiratory infections, Cardiac arrest, Congestive heart failure, Low anterior hairline... |
OMIM:212720 |
| Isolated Sedoheptulokinase Deficiency |
|
Cholestasis, Cholestatic liver disease, Hepatitis, Portal hypertension |
ORPHA:440713 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Pulmonary artery stenosis, Vesicoureteral ... |
ORPHA:261494 |
| Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegal... |
OMIM:608013 |
| Tetrasomy 5P |
|
Respiratory distress, Recurrent respiratory infections, Congestive heart failure, Heart murmur, P... |
ORPHA:3309 |
| Myotonic Dystrophy 1 |
|
Respiratory distress, Atrial flutter, Atrial fibrillation, Polyhydramnios, Frontal balding, First... |
OMIM:160900 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Ventilato... |
ORPHA:254864 |
| Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Congestive heart failure, Low anterior hairline, Low posterior hairline, Hypertroph... |
ORPHA:528 |
| Central Diabetes Insipidus |
|
Lethargy, Dehydration, Depression |
ORPHA:178029 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Congestive heart failure, Bipolar affective disorder |
ORPHA:3077 |
| Diprosopus |
|
Abnormality of retinal pigmentation |
ORPHA:1681 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Patent ductu... |
ORPHA:391641 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hepatomegaly, Hypospadias, Micropenis, Abnormal left ventricular fu... |
OMIM:301056 |
| Jalili Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1873 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Congestive heart failure, Splenomegaly, Hypertension, Hypertrophic cardiomyopathy, ... |
ORPHA:79083 |
| Melas |
|
Wolff-Parkinson-White syndrome, Bipolar affective disorder, Cardiac conduction abnormality, Dilat... |
ORPHA:550 |
| Glycogen Storage Disease Ii |
|
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Hepatomeg... |
OMIM:232300 |
| Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Retinal pigment epithelial mottling, Anisocoria |
OMIM:619649 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricle, Transposition... |
OMIM:620294 |
| Leber Congenital Amaurosis |
|
Abnormality of retinal pigmentation, Abnormal optic disc morphology |
ORPHA:65 |
| Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Pr... |
ORPHA:897 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Myocardial fibrosis, Respiratory insufficiency, Transposition of the grea... |
OMIM:253800 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
ORPHA:209905 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Hydrops fe... |
ORPHA:79282 |
| Complement Factor I Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... |
OMIM:610984 |
| Cardiac-Urogenital Syndrome |
|
Tachycardia, Patent ductus arteriosus, Partial anomalous pulmonary venous return, Enlarged kidney... |
OMIM:618280 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
| Meningococcal Meningitis |
|
Shock, Lethargy, Neonatal respiratory distress, Hypotension |
ORPHA:33475 |
| Enhanced S-Cone Syndrome |
|
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema |
OMIM:268100 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, Pneumonia, Bronchitis, Recurrent skin infections, Gastritis, Splenomega... |
OMIM:619381 |
| Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Cardiomegaly, Absent eyelashes, Cardiomyopathy, Hypovolemic shock, Impaired myoca... |
ORPHA:158687 |
| Ring Chromosome 14 Syndrome |
|
Pigmentary retinopathy |
OMIM:616606 |
| Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
| Rin2 Syndrome |
|
Aortic aneurysm |
ORPHA:217335 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Hydronephrosis |
OMIM:618240 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
| Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress |
OMIM:617977 |
| Pyruvate Dehydrogenase Deficiency |
|
Dyspnea, Lethargy, Tachypnea |
ORPHA:765 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Left v... |
OMIM:617713 |
| Aapoaiv Amyloidosis |
|
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... |
ORPHA:439232 |
| Desmoid Tumor |
|
Gastrointestinal hemorrhage, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Polycystic kidn... |
ORPHA:261290 |
| Familial Bicuspid Aortic Valve |
|
Aortic regurgitation, Aortic arch aneurysm, Heart murmur, Coarctation of aorta, Hypertension, Asc... |
ORPHA:402075 |
| Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans |
ORPHA:79455 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Otitis media, Chronic otitis media, Glomerulopathy, Ureteral stenosis, Vasculitis, Pro... |
ORPHA:900 |
| Bardet-Biedl Syndrome 3 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:600151 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Bradykinesia, Lethargy |
ORPHA:101150 |
| Myasthenia Gravis |
|
Myositis, Raynaud phenomenon, Hepatitis, Rheumatoid arthritis, Hashimoto thyroiditis |
ORPHA:589 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Polyhydramnios, Dyspnea, Respiratory failure |
ORPHA:2759 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... |
OMIM:619051 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Hepatomegaly |
OMIM:614741 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Dilated cardiomyopathy, Depression |
ORPHA:70595 |
| Pediatric-Onset Graves Disease |
|
Hepatomegaly, Atrial fibrillation, Congestive heart failure, Splenomegaly, Neonatal asphyxia, Hyp... |
ORPHA:525731 |
| Narp Syndrome |
|
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... |
ORPHA:644 |
| Macs Syndrome |
|
Dilation of Virchow-Robin spaces, Urethral stenosis, Bronchiectasis, Recurrent aphthous stomatiti... |
OMIM:613075 |
| Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Lethargy, Breathing dysregulation, Hypoventilation |
OMIM:618232 |
| Neuraminidase Deficiency |
|
Hepatomegaly, Cardiomegaly, Facial edema, Splenomegaly, Hydrops fetalis, Cardiomyopathy, Ascites |
OMIM:256550 |
| Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... |
ORPHA:98915 |
| Osteogenesis Imperfecta, Type Ii |
|
Congestive heart failure, Pulmonary insufficiency, Nonimmune hydrops fetalis, Respiratory insuffi... |
OMIM:166210 |
| Sorsby Fundus Dystrophy |
|
Macular dystrophy, Chorioretinal atrophy |
OMIM:136900 |
| Analbuminemia |
|
Hypotension |
OMIM:616000 |
| Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Splenomegaly, Melena, Nephrocalci... |
OMIM:276700 |
| Acute Zonal Occult Outer Retinopathy |
|
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... |
ORPHA:284454 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Epistaxis, Enterocolitis, Gout, Ulcerative colitis, Thyroiditis, Hyper... |
ORPHA:79259 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Pulmonary hypoplasia, Hypoxemia |
ORPHA:2140 |
| Non-Functioning Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:94080 |
| Laurence-Moon Syndrome |
|
Pigmentary retinopathy, Chorioretinal atrophy |
OMIM:245800 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Congestive heart failure, Tachycardia, Exertional dyspnea |
ORPHA:90033 |
| Familial Thyroid Dyshormonogenesis |
|
Facial edema, Lethargy, Bradycardia |
ORPHA:95716 |
| Cardiac Valvular Dysplasia 1 |
|
Tricuspid regurgitation, Hydroureter, Tricuspid stenosis, Valvular pulmonary stenosis, Arteria lu... |
OMIM:212093 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress |
OMIM:300934 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Abnormal pulmonary interstitial ... |
ORPHA:227990 |
| Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
| Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Hematemesis, Jaundice, Retinal hemorrhage, Hepatitis, U... |
ORPHA:319251 |
| Trisomy 13 |
|
Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cysts, Displacement of the ur... |
ORPHA:3378 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumonitis, Tachypnea, ... |
OMIM:265120 |
| Joubert Syndrome 28 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:617121 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... |
OMIM:617547 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Atrial septal defect, Patent foramen ovale, Respiratory distress |
ORPHA:89844 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Polyhydramnios, Cardiomegaly, Hydrops fetalis, Hypertrophic cardiomyop... |
OMIM:616897 |
| Retinitis Pigmentosa 75 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels |
OMIM:617023 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Dihydropyrimidinase Deficiency |
|
Lethargy |
OMIM:222748 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency, Lethargy |
OMIM:605711 |
| Classic Galactosemia |
|
Hepatomegaly, Lethargy, Ascites, Depression |
ORPHA:79239 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Abnormal aortic morphology |
ORPHA:3405 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Eczematoid dermatitis, Chroni... |
ORPHA:83471 |
| Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Upper airway obstruction, Respiratory distress |
OMIM:612776 |
| Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Recurrent urinary tract infections, Hydrou... |
ORPHA:105 |
| Retinitis Pigmentosa |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:791 |
| Lymphangioleiomyomatosis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Lymphedema, Atelectasis, Dyspnea, ... |
ORPHA:538 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Alopecia, Pneumonia, Edema, Dyspnea, Pneumothorax, Dilated cardiomyopathy, ... |
ORPHA:79404 |
| Hec Syndrome |
|
Polyhydramnios, Respiratory insufficiency, Cardiomyopathy, Endocardial fibroelastosis, Arrhythmia |
ORPHA:2119 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Situs inversus totalis, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis,... |
OMIM:244400 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Ventricular septal defect, Hepatitis, Congenital pulmonary airway malfor... |
ORPHA:436252 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Lymphedema, Recurrent pneumonia, Cardiomegaly |
ORPHA:3137 |
| Atrial Standstill 2 |
|
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy... |
OMIM:615745 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Aspiration, Respiratory insufficiency, Cardiomyopathy, Respiratory ... |
ORPHA:258 |
| Werner Syndrome |
|
Sparse scalp hair, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, P... |
ORPHA:902 |
| Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... |
OMIM:610199 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Hepatomegaly, Tricuspid regurgitation, Ureteral hypoplasia, Abnormal r... |
ORPHA:79328 |
| Hereditary Angioedema Type 1 |
|
Respiratory distress, Tongue edema, Intestinal edema, Pharyngeal edema, Edema of the dorsum of ha... |
ORPHA:100050 |
| Pulmonary Arteriovenous Malformation |
|
Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart murmur, Telang... |
ORPHA:2038 |
| Snakebite Envenomation |
|
Tachycardia, Epistaxis, Myocardial infarction, Intracranial hemorrhage, Cerebral ischemia, Hypote... |
ORPHA:449285 |
| Microscopic Polyangiitis |
|
Episcleritis, Gastrointestinal hemorrhage, Increased inflammatory response, Sinusitis, Pericardit... |
ORPHA:727 |
| Mgat2-Cdg |
|
Respiratory distress, Ventricular septal defect, Hydrops fetalis, Abnormal heart morphology, Long... |
ORPHA:79329 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Abnormal pulmonary interstitial ... |
ORPHA:227982 |
| Blau Syndrome |
|
Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Retrobulbar optic neuritis, ... |
ORPHA:90340 |
| Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Cardiomyopathy, Lethargy |
OMIM:201470 |
| Congenital Contractural Arachnodactyly |
|
Aortic aneurysm |
ORPHA:115 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Pulmonary valve atresia, ... |
ORPHA:210122 |
| Hyperzincemia With Functional Zinc Depletion |
|
Hepatomegaly, Vasculitis, Skin rash |
OMIM:601979 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Ureteral duplication, Ureteral stenosis, Patent ductus arteriosus, Pa... |
OMIM:270100 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Abnormal cardiac ventricular function, Congestive heart failure, Dilatation of the ventricular ca... |
ORPHA:90349 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Abnormal posturing, Aspiration pneumonia, Cough |
ORPHA:216866 |
| Serotonin Syndrome |
|
Tachycardia, Confusion, Hypertension, Hypotension, Mental deterioration, Delirium |
ORPHA:43116 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Secundum atrial septal defect, Congestive heart failure, Splenomegaly, Neonatal asp... |
OMIM:608779 |
| Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
| Lichen Planopilaris |
|
Hepatitis |
ORPHA:525 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Bradykinesia, Respiratory distress |
ORPHA:240103 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:613390 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Ventricular septal defect, Polyhydramnios, Fetal ascites, Neonatal asphyxia... |
ORPHA:141127 |
| Cone-Rod Dystrophy 2 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... |
OMIM:120970 |
| Retinitis Pigmentosa 66 |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
OMIM:615233 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Respiratory distress, Aplasia/Hypoplasia of the eyebrow, Oligohydramnios |
ORPHA:261304 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Abnormal aortic arch morphology, Abnormal aortic morph... |
ORPHA:2059 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Polyhydramnios, Congestive heart failure, Recurrent pneumonia, Dehydration |
OMIM:616271 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Lethargy |
OMIM:603896 |
| Dysbetalipoproteinemia |
|
Accelerated atherosclerosis, Hepatomegaly, Acute pancreatitis, Angina pectoris, Type IV atheroscl... |
ORPHA:412 |
| Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Hepatitis, Weight loss, Hypotension, Failure to thrive, Hashimoto thyroi... |
ORPHA:199299 |
| Zika Virus Disease |
|
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... |
ORPHA:448237 |
| Monosomy 18Q |
|
Left-to-right shunt, Left aortic arch with right descending aorta and right ductus arteriosus, Pa... |
ORPHA:1600 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Congestive heart failure, Recurrent pneumonia, Arterial rupture, Aortic dissection, Arterial diss... |
ORPHA:1900 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Splenomegaly, Hepatomegaly, Respiratory distress, Telangiectasia |
OMIM:608799 |
| Malaria |
|
Respiratory distress |
ORPHA:673 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity, Cardiomegaly |
ORPHA:88643 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Lethargy, Respiratory failure, Tachypnea |
OMIM:615838 |
| Loeys-Dietz Syndrome 4 |
|
Eosinophilic infiltration of the esophagus, Arterial tortuosity, Ascending tubular aorta aneurysm... |
OMIM:614816 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Myotonia of the face, Cold-sensitive myo... |
ORPHA:684 |
| Seckel Syndrome 10 |
|
Acute pancreatitis, Congestive heart failure, Hypertension, Glycosuria, Abdominal aortic aneurysm |
OMIM:617253 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, ... |
ORPHA:3427 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Renal Hypoplasia, Bilateral |
|
Neonatal respiratory distress, Edema, Hypertension, Lethargy, Oligohydramnios |
ORPHA:97362 |
| Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:397951 |
| Citrullinemia Type I |
|
Lethargy, Tachypnea |
ORPHA:247525 |
| Corticosteroid-Binding Globulin Deficiency |
|
Hypertension, Hypotension |
OMIM:611489 |
| Hyperlysinuria With Hyperammonemia |
|
Lethargy |
OMIM:238750 |
| Myofibrillar Myopathy 10 |
|
Left ventricular hypertrophy, Percussion myotonia, Prolonged QTc interval, Increased QRS voltage |
OMIM:619040 |
| Carney Complex, Type 1 |
|
Red hair, Cardiac myxoma, Congestive heart failure, Hirsutism |
OMIM:160980 |
| Sarcoidosis |
|
Heart block, Abnormal lung morphology, Ventricular tachycardia, Uveitis, Tubulointerstitial nephr... |
ORPHA:797 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Patent ductus arteriosus, Coarctation of aorta |
OMIM:615502 |
| Gaucher Disease, Type I |
|
Hepatomegaly, Epistaxis, Splenomegaly, Dyspnea, Abnormal pulmonary interstitial morphology, Hyper... |
OMIM:230800 |
| Myofibrillar Myopathy 11 |
|
Coarctation of aorta |
OMIM:619178 |
| Isolated Complex I Deficiency |
|
Lethargy, Hypertrophic cardiomyopathy, Respiratory insufficiency, Hepatomegaly |
ORPHA:2609 |
| Riboflavin Deficiency |
|
Lethargy |
OMIM:615026 |
| Holt-Oram Syndrome |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Patent ductus arteriosus, At... |
ORPHA:392 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Patent ductus arteriosus, Partial anomalous pulmonary venous return, An... |
OMIM:619657 |
| Neuroendocrine Tumor Of The Colon |
|
Tricuspid regurgitation, Right ventricular failure, Melena, Palpitations, Hypotension, Facial tel... |
ORPHA:100080 |
| Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
| Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Gastrointestinal hemorrhage, Skin rash, Pneumonia, Nodular regenerative hyperplasia of liver, Ray... |
ORPHA:247691 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Patent ductus arterio... |
ORPHA:2473 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis |
OMIM:194380 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Bundle branch block, Myotonia, First degree atrioventricular block, Patent ductus arteriosus, Obe... |
ORPHA:589821 |
| Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... |
OMIM:618652 |
| Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia |
ORPHA:1745 |
| Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Osteomyelitis, Recurrent urinary tract infections |
OMIM:619218 |
| Nocardiosis |
|
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,... |
ORPHA:31204 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation |
ORPHA:171844 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Apnea, Splenomegaly, Concentric hypertrophic cardiomyopathy, Respiratory insufficie... |
OMIM:252010 |
| Zaki Syndrome |
|
Patent ductus arteriosus, Renal agenesis, Hydronephrosis |
OMIM:619648 |
| Idiopathic Intracranial Hypertension |
|
Lethargy, Depression |
ORPHA:238624 |
| Mosaic Trisomy 9 |
|
Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology, Asplenia, Patent ductus... |
ORPHA:99776 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology |
ORPHA:2001 |
| Cirrhosis, Familial |
|
Hypertension, Ascites, Pulmonary arterial hypertension, Lethargy |
OMIM:215600 |
| Mucolipidosis Ii Alpha/Beta |
|
Aortic regurgitation, Hepatomegaly, Cardiomegaly, Congestive heart failure, Splenomegaly, Recurre... |
OMIM:252500 |
| Hutchinson-Gilford Progeria Syndrome |
|
Congestive heart failure, Alopecia, Angina pectoris, Myocardial infarction |
OMIM:176670 |
| Cat Eye Syndrome |
|
Renal agenesis, Patent ductus arteriosus, Horseshoe kidney, Total anomalous pulmonary venous retu... |
OMIM:115470 |
| Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Atelectasis, Polyhydramnios |
OMIM:300219 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Ventricular septal defect, Supernumerary nipple, Atrial septal defect, Pulm... |
ORPHA:2519 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:614307 |
| 3C Syndrome |
|
Hypoplasia of penis, Hypospadias, Pulmonic stenosis, Aortic valve stenosis, Tetralogy of Fallot, ... |
ORPHA:7 |
| Friedreich Ataxia |
|
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure |
OMIM:229300 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Varicose veins, Nephroblastoma, Bifid ureter, En... |
ORPHA:500095 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
| Aarskog-Scott Syndrome |
|
Congestive heart failure, High anterior hairline |
ORPHA:915 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Splenomegaly, Congestive ... |
OMIM:615512 |
| Trisomy 1Q |
|
Patent ductus arteriosus, Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261344 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Left ventricular hypertrophy, Congestive heart failure, Cerebral edema |
OMIM:619355 |
| Malignant Migrating Focal Seizures Of Infancy |
|
Aortopulmonary collateral arteries |
ORPHA:293181 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Patent ductus arteriosus, Hydronephrosis |
OMIM:620327 |
| Septopreoptic Holoprosencephaly |
|
Coarctation of aorta |
ORPHA:280195 |
| Unilateral Polymicrogyria |
|
Apnea, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Abnormal postu... |
ORPHA:268943 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Respiratory... |
OMIM:220110 |
| Meacham Syndrome |
|
Hypoplasia of penis, Crossed fused renal ectopia, Patent ductus arteriosus, Anomalous pulmonary v... |
ORPHA:3097 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Angina pectoris, Splenomegaly, Dyspnea, Low-output congestive heart failure, Abnorm... |
ORPHA:565612 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Renal artery steno... |
OMIM:617913 |
| Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Aortic root aneurysm, Persistent left superior vena cava, Pulmonic stenosis |
OMIM:609008 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Dilated cardiomyopathy, Respiratory insufficiency, Depression, Mitral valve prolapse, Mitral regu... |
OMIM:607459 |
| Huntington Disease-Like 1 |
|
Bradykinesia, Abnormal posturing, Depression |
ORPHA:157941 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Cardiomegaly |
OMIM:613576 |
| Malignant Hyperthermia, Susceptibility To, 1 |
|
Tachycardia, Hypotension |
OMIM:145600 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac... |
OMIM:610910 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1264 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Respiratory distress, Abnormal ple... |
ORPHA:537 |
| Pulmonary Alveolar Microlithiasis |
|
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... |
ORPHA:60025 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
| Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Polyhydramnios, Congestive heart failure, Lethargy, Ascites |
OMIM:617156 |
| Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Hydronephrosis, Peripheral pulmonary artery stenosis |
OMIM:613001 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:264580 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary insufficiency, Hydroureter, Hypospadias, Pulmonary artery stenosis, Patent ductus arter... |
OMIM:265380 |
| Homozygous Familial Hypercholesterolemia |
|
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid art... |
ORPHA:391665 |
| Pseudo-Torch Syndrome 3 |
|
Apnea, Cerebral hemorrhage, Cardiomegaly, Respiratory insufficiency, Hypertension |
OMIM:618886 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Intraventricular hemorrhage, Lethargy, Abnormal heart morphology |
ORPHA:79284 |
| Hypercalcemia, Infantile, 1 |
|
Lethargy, Dehydration |
OMIM:143880 |
| Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Decreased liver functi... |
ORPHA:415 |
| Cockayne Syndrome Type 3 |
|
Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Unilateral renal agenesis, Sp... |
ORPHA:90324 |
| Fanconi Renotubular Syndrome 5 |
|
Hypertension, Pulmonary fibrosis, Decreased DLCO, Emphysema, Lung adenocarcinoma |
OMIM:618913 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Heart block, Renal tubular epithelial... |
ORPHA:228308 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... |
OMIM:211530 |
| Biotinidase Deficiency |
|
Hepatomegaly, Alopecia, Apnea, Splenomegaly, Tachypnea, Lethargy |
OMIM:253260 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2521 |
| Canavan Disease |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:141 |
| Hereditary Central Diabetes Insipidus |
|
Lethargy |
ORPHA:30925 |
| Neuroendocrine Tumor Of The Rectum |
|
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Tricuspid regurgitation, Right ventricular failure, Hematochezia, Melena, Palpitations, Hypotensi... |
ORPHA:100082 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Cardiorespiratory arrest, Lethargy, Apnea, Hypotension |
OMIM:608643 |
| Retinitis Pigmentosa 37 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration |
OMIM:611131 |
| Hyperkalemic Periodic Paralysis |
|
Congestive heart failure, Arrhythmia, Respiratory insufficiency |
ORPHA:682 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Cholangitis... |
ORPHA:731 |
| Netherton Syndrome |
|
Skin rash, Eczema, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis |
ORPHA:634 |
| Insulinoma |
|
Lethargy, Palpitations |
ORPHA:97279 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hypotension |
OMIM:620125 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Abnormal atrioventricular conduction, Supraventricular arrhythmia, Congestive heart... |
ORPHA:280365 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Patent ductus arteriosus, Anomalous origin of right pulmonary artery from ascending aorta, Coarct... |
OMIM:610338 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Lethargy |
OMIM:236270 |
| Carpenter Syndrome 1 |
|
Hydroureter, Patent ductus arteriosus, Transposition of the great arteries, Pulmonic stenosis, Te... |
OMIM:201000 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Osteoarthritis, Knee osteoarthritis, Abdominal aortic aneurysm, Eosin... |
OMIM:613795 |
| Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... |
ORPHA:5 |
| Central Neurocytoma |
|
Lethargy, Depression |
ORPHA:73256 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Cardiomyopathy, Abnormal cardiac septum morp... |
OMIM:217980 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium |
ORPHA:1433 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:615042 |
| Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
| Juvenile Paget Disease |
|
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus |
ORPHA:2801 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ... |
OMIM:614370 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Lethargy, Dehydration, Hepatomegaly |
OMIM:251110 |
| Ramon Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3019 |
| Juvenile Dermatomyositis |
|
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Alopecia, Angina pectoris, Telang... |
ORPHA:93672 |
| Double Outlet Right Ventricle |
|
Tachycardia, Double outlet right ventricle, Heart murmur, Coarctation of aorta, Pulmonic stenosis... |
ORPHA:3426 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Aortic regurgitation, Hepatomegaly, Tricuspid regurgitation, Ventricular septal defect, Palpebral... |
OMIM:614866 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Prominent superficial veins, Recurrent urinary tract infections, Perianal abscess, ... |
OMIM:612541 |
| Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Polyhydramnios, Low anterio... |
ORPHA:329178 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Dilated cardiomyopathy, Failure to thrive, Recurrent skin infections, Decreased body weight |
ORPHA:89842 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Sinusitis, Pneumonia, Respiratory tract infection, Lethargy, Arrhythmia, Cer... |
ORPHA:68 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Noncompaction cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Recurrent upper ... |
ORPHA:508542 |
| Tuberous Sclerosis Complex |
|
Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di... |
ORPHA:805 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Recurrent upper respiratory tract infections, Titubation, Bradykinesia, Abnormal posturing, Recur... |
ORPHA:225147 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Lethargy, Tachycardia, Hepatomegaly |
ORPHA:263455 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Bone spicule pigmentation of the retina, Optic atrophy, Pigmentary retinopathy, Rod-cone dystroph... |
OMIM:609033 |
| 8P23.1 Microdeletion Syndrome |
|
Hypospadias, Pulmonary artery stenosis, Patent ductus arteriosus, Abnormal aortic morphology, Tra... |
ORPHA:251071 |
| Hypoplastic Left Heart Syndrome |
|
Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis |
ORPHA:2248 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Lethargy |
OMIM:233910 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Pulmonary art... |
OMIM:616482 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hepatomegaly, Thyroid lymphangiectasia, Pancreatic lymphangiectasis, Splenomegaly, Pulmonary lymp... |
OMIM:235255 |
| Graves Disease, Susceptibility To, 1 |
|
Congestive heart failure |
OMIM:275000 |
| Leigh Syndrome |
|
Alopecia, Ventricular septal defect, Frontal hirsutism, Congestive heart failure, Respiratory fai... |
ORPHA:506 |
| Semilobar Holoprosencephaly |
|
Central apnea, Depression, Abnormal heart rate variability, Abnormal heart morphology, Apathy, As... |
ORPHA:220386 |
| Tarp Syndrome |
|
Tetralogy of Fallot, Subdural hemorrhage, Hydronephrosis, Horseshoe kidney |
OMIM:311900 |
| Alobar Holoprosencephaly |
|
Central apnea, Depression, Abnormal heart rate variability, Abnormal heart morphology, Apathy, As... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Depression, Abnormal heart rate variability, Abnormal heart morphology, Apathy, As... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Central apnea, Depression, Abnormal heart rate variability, Abnormal heart morphology, Apathy, As... |
ORPHA:93924 |
| Autosomal Dominant Cutis Laxa |
|
Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Dilatation of the vent... |
ORPHA:90348 |
| Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
| Tetanus |
|
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia |
ORPHA:3299 |
| Birt-Hogg-Dubé Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:122 |
| Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing |
OMIM:304700 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tricuspid regurgitation, Patent ductus arteriosus after premature birth, Re... |
OMIM:618460 |
| Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Failure to ... |
ORPHA:333 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Patent ductus arteriosus, Hydronephrosis |
ORPHA:457193 |
| Cantu Syndrome |
|
Bicuspid aortic valve, Curly eyelashes, Lymphedema, Pericardial effusion, Cardiomegaly, Congenita... |
OMIM:239850 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Sparse hair, Dilated cardiomyopathy |
OMIM:616541 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Hypoplastic right heart, Congestive heart failure, Pneumothorax, Right bundle branch block, Atria... |
OMIM:617403 |
| Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Osteoarthritis of the small joints of the hand, Atrial fibrillation, Arteri... |
ORPHA:284984 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Splenomegaly, Congestive heart failure, Hepatomegaly |
ORPHA:75564 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Coarctation of aorta, Microphallus, Vesic... |
OMIM:618454 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
| Thakker-Donnai Syndrome |
|
Hydronephrosis, Tetralogy of Fallot, Transposition of the great arteries |
ORPHA:1780 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Situs inversus totalis, Aplasia/Hypoplasia of the eyebrow, Respiratory distress, Polyhydramnios |
ORPHA:990 |
| Autosomal Recessive Spastic Paraplegia Type 15 |
|
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina |
ORPHA:100996 |
| Crigler-Najjar Syndrome |
|
Lethargy |
ORPHA:205 |
| Joubert Syndrome 37 |
|
Hepatomegaly, Micropenis, Hydronephrosis |
OMIM:619185 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Chronic mucocutaneous candidiasis, Chronic hepatitis, Keratoconjunctivitis, ... |
OMIM:269200 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Congestive heart failure, Depression, Hypotension, Arrhythmia, Abnormal pattern of resp... |
ORPHA:428 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Hepatomegaly, Tachycardia, Intermittent hyperventilation, Episodic tachypne... |
ORPHA:348 |
| Choanal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Upper airway obstruction, Tracheomalacia,... |
ORPHA:137914 |
| Lateral Meningocele Syndrome |
|
Patent ductus arteriosus, Neurogenic bladder, Aortic aneurysm |
OMIM:130720 |
| Tetraploidy |
|
Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
| Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Patent ductus arterios... |
OMIM:146510 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
| Loeys-Dietz Syndrome |
|
Cardiac arrest, Arterial tortuosity, Patent ductus arteriosus, Aortic dissection, Arterial dissec... |
ORPHA:60030 |
| Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Lethargy, Cerebral edema, Hepatomegaly |
OMIM:201450 |
| Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
| Developmental And Epileptic Encephalopathy 41 |
|
Lethargy |
OMIM:617105 |
| Agel Amyloidosis |
|
Edema, Respiratory tract infection, Xerostomia, Depression, Cardiomyopathy, Blepharochalasis, Nai... |
ORPHA:85448 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Patent ductus arteriosus, Ureteral triplication, Hydronephrosis |
OMIM:104350 |
| Late-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension |
ORPHA:556037 |
| Loeys-Dietz Syndrome 2 |
|
Aortic arch aneurysm, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descending... |
OMIM:610168 |
| Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:277900 |
| Encephalitis Lethargica |
|
Lethargy, Bradycardia, Hyperventilation |
ORPHA:83600 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Tricuspid regurgitation, Abnormal eyelash morphology, Dyspnea, Dilated card... |
ORPHA:2556 |
| Holocarboxylase Synthetase Deficiency |
|
Lethargy, Alopecia, Tachypnea, Hyperventilation |
OMIM:253270 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, Hashimoto t... |
ORPHA:109 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pericardial lymphangiectasia, Thyroid lymphangiectasia, Ectopic kidney, Pulmonary lymphangiectasi... |
OMIM:235510 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171420 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Retinal pigment epithelial mottling, Retinopathy |
OMIM:219900 |
| 1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Patent ductus arteriosus, Hydronephrosis, Interrupted aortic arch |
ORPHA:250989 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Valvular pulmonary stenosis, Vesicoureteral reflux, Cross... |
OMIM:300707 |
| Bardet-Biedl Syndrome 6 |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:605231 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation |
ORPHA:290 |
| Cone-Rod Dystrophy 6 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... |
OMIM:601777 |
| Gabriele-De Vries Syndrome |
|
Hydronephrosis, Ureteropelvic junction obstruction, Aortopulmonary collateral arteries |
OMIM:617557 |
| Susac Syndrome |
|
Lethargy, Apathy |
ORPHA:838 |
| Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Eczema, Patent ductus arteriosus, Aortic root aneurysm, Pulmo... |
OMIM:610443 |
| Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypotension |
ORPHA:91354 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Chronic lung disease, Ventricular septal defect, Thick hair, Highly arched eyebrow, C... |
ORPHA:444077 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia |
OMIM:184260 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Aortic root aneurysm, Transposition of the great arteries, Cerebral cavernous malformation |
OMIM:619910 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Pancreatic lymphangiectasis, Splenomegaly, Abnormal renal morphology, Pulmonary lym... |
ORPHA:1655 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Hypotension |
OMIM:203400 |
| Night Blindness, Congenital Stationary, Type 1B |
|
Congenital stationary night blindness, Bone spicule pigmentation of the retina |
OMIM:257270 |
| Erythrocytosis, Familial, 2 |
|
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage |
OMIM:263400 |
| Ohdo Syndrome, Sbbys Variant |
|
Dilated cardiomyopathy |
OMIM:603736 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Epistaxis, Albinism, Hematochezia, Cardiomyopathy, Restrictive ventilat... |
OMIM:203300 |
| 7Q11.23 Microduplication Syndrome |
|
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Enuresis, Chronic otitis media,... |
ORPHA:96121 |
| Cerebellar-Facial-Dental Syndrome |
|
Abnormal T-wave, Ureteropelvic junction obstruction, Ascending tubular aorta aneurysm, Hydronephr... |
ORPHA:444072 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Pigmentary retinopathy |
ORPHA:370968 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
| Bare Lymphocyte Syndrome, Type I |
|
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis |
OMIM:604571 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
| Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Handgrip myotonia, Myotonia of the upper limb, Atrial fibrillation... |
ORPHA:273 |
| Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:44 |
| Cerebellar Ataxia-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:1173 |
| Hsd10 Disease, Infantile Type |
|
Abnormal circulating enzyme concentration or activity, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Oculopharyngodistal Myopathy 3 |
|
Pigmentary retinopathy |
OMIM:619473 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hypotension |
OMIM:264350 |
| Thyroid Dyshormonogenesis 1 |
|
Lethargy |
OMIM:274400 |
| Myotonia Congenita, Autosomal Dominant |
|
Handgrip myotonia, Myotonia, Percussion myotonia, Myotonia with warm-up phenomenon, EMG: myotonic... |
OMIM:160800 |
| Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Cardiac conduction abnormality, Dehydration, Aspiration, Cardiomyopa... |
ORPHA:2131 |
| Malignant Hyperthermia Of Anesthesia |
|
Hypercapnia, High-output congestive heart failure, Tachypnea, Cardiomyocyte mitochondrial prolife... |
ORPHA:423 |
| Cap Myopathy |
|
Aortic root aneurysm, Reduced systolic function, Sinus tachycardia |
ORPHA:171881 |
| Bardet-Biedl Syndrome 9 |
|
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... |
OMIM:615986 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Arteria lusoria, Heart murmur, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis |
OMIM:618653 |
| Kury-Isidor Syndrome |
|
Recurrent otitis media, Hydronephrosis |
OMIM:619762 |
| Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... |
ORPHA:774 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Xerostomia, Atrial septal defect, Let... |
ORPHA:398069 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Lethargy, Dehydration, Hepatomegaly |
OMIM:251100 |
| 3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Lethargy, Apnea |
OMIM:210200 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
| Esophageal Atresia |
|
Respiratory distress, Recurrent respiratory infections, Ventricular septal defect, Bronchitis, Po... |
ORPHA:1199 |
| Hydroxykynureninuria |
|
Tachycardia, Hypotension |
ORPHA:79155 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Edema of the dorsum of feet, Edema of the dorsum of hands |
ORPHA:544503 |
| Early-Onset Familial Hypoaldosteronism |
|
Orthostatic hypotension, Hypotension |
ORPHA:556030 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Atrial septal defect, Lethargy, Dextrocardia, Hepatomegaly |
OMIM:277380 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema... |
ORPHA:79403 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Aortic regurgitation, Hypoplasia of penis, Renal insufficiency, Conotruncal defect, Coarctation o... |
ORPHA:96147 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hypospadias, Patent ductus arteriosus, Heart murmur, Intracranial hemorrhage, Interrupted aortic ... |
ORPHA:163979 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Congestive heart failure, Generalized hirsutism, Edema |
ORPHA:2505 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Coarctation of aorta |
OMIM:217085 |
| Hardikar Syndrome |
|
Hepatomegaly, Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections,... |
OMIM:301068 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Aortopulmonary collateral arteries, Right aortic arch, Pulmonary artery atresia, Double outlet ri... |
OMIM:617205 |
| Transaldolase Deficiency |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Hepatosplenomegaly, Coarctation of aorta, T... |
OMIM:606003 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Joint swelling, Pulmonary fibrosis |
OMIM:612852 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis, Portal hypertension |
OMIM:619431 |
| Mucolipidosis Type Ii |
|
Aortic regurgitation, Recurrent respiratory infections, Dry hair, Abnormal atrioventricular valve... |
ORPHA:576 |
| Retinitis Pigmentosa 74 |
|
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy |
OMIM:616562 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Patent ductus ... |
OMIM:614080 |
| Osteogenesis Imperfecta, Type I |
|
Aortic aneurysm |
OMIM:166200 |
| Aicardi-Goutières Syndrome |
|
Myositis, Chilblains, Cardiomegaly, Raynaud phenomenon, Calcification of the aorta, Aortic aneury... |
ORPHA:51 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Pulmonic stenosis, Hydronephrosis |
OMIM:616737 |
| Suleiman-El-Hattab Syndrome |
|
Hydronephrosis |
OMIM:618950 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Patent ductus arteriosus, Pulmonic stenosis, Coarctation of aorta |
ORPHA:284169 |
| Opitz Gbbb Syndrome |
|
Enlarged ovaries, Hypospadias, Patent ductus arteriosus, Coarctation of aorta, Hydronephrosis, Ao... |
ORPHA:2745 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Patent ductus arteriosus, Hypertrophy of the urinary bladder, Unilateral renal dyspl... |
ORPHA:280633 |
| Medulloblastoma |
|
Neoplasm of the lung, Lethargy, Cerebellar hemorrhage |
ORPHA:616 |
| Neurocutaneous Melanocytosis |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... |
ORPHA:2481 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Tricuspid regurgitation, Anomalous pulmonary venous return, Coarctation... |
ORPHA:1120 |
| Spinal Arteriovenous Metameric Syndrome |
|
Congestive heart failure |
ORPHA:53721 |
| Pagod Syndrome |
|
Multicystic kidney dysplasia, Sudden cardiac death, Renal hypoplasia/aplasia, Pulmonary artery hy... |
ORPHA:991 |
| Acquired Von Willebrand Syndrome |
|
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Intracranial hemorrhage, Melena, Mi... |
ORPHA:99147 |
| Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Patent ductus arteriosus, Coarctation of aorta, Vesicoureteral reflux, Micro... |
OMIM:617159 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Hypertension, Tachypnea, Pulmonary arterial hypertension, Cardiomegaly |
OMIM:613320 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Horseshoe kidney, Coarctation of aorta |
OMIM:163200 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:3085 |
| Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
| Craniofacioskeletal Syndrome |
|
Patent ductus arteriosus, Hypospadias, Hydronephrosis, Interrupted aortic arch |
OMIM:300712 |
| Jeune Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:474 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Bradycardia |
ORPHA:226313 |
| Arthrogryposis, Distal, Type 5 |
|
Abnormality of retinal pigmentation, Retinal fold |
OMIM:108145 |
| 2Q37 Microdeletion Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia, Abnormal aortic morphology, Eczema |
ORPHA:1001 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Congestive heart failure |
ORPHA:137608 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Aortic aneurysm |
ORPHA:2990 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Abnormality of the urinary system, Micropenis, Tetralogy of Fallot, Hydronephrosis |
ORPHA:96092 |
| Sickle Cell Disease |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Hypertension, Cholelithiasis |
OMIM:603903 |
| Schimke Immuno-Osseous Dysplasia |
|
Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stroke, Cerebral isch... |
ORPHA:1830 |
| Diaphanospondylodysostosis |
|
Respiratory distress |
ORPHA:66637 |
| Biotinidase Deficiency |
|
Respiratory distress, Alopecia, Apnea, Lethargy, Hyperventilation |
ORPHA:79241 |
| Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To |
|
Lethargy, Cerebral edema |
OMIM:237300 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Pulmonary arterial hypertension, Bradycardia |
OMIM:619272 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Hypospadias, Absent pulmonary artery, Patent ductus arteriosus, Coarctation of aorta, Micropenis,... |
OMIM:600460 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Cerebral hemorrhage, Subdural hemorrhage, Respiratory failure, Chylothorax |
OMIM:620278 |
| Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
| Renal Tubular Dysgenesis |
|
Hypotension |
OMIM:267430 |
| 1P36 Deletion Syndrome |
|
Abnormal heart valve morphology, Abnormality of the spleen, Patent ductus arteriosus, Dilated car... |
ORPHA:1606 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
| Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... |
OMIM:240300 |
| Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
| Noonan Syndrome 4 |
|
Ureteral duplication, Hypertrophic cardiomyopathy, Hydronephrosis, Pulmonic stenosis |
OMIM:610733 |
| Hughes-Stovin Syndrome |
|
Pulmonary embolism, Vasculitis, Arterial stenosis, Pulmonary artery aneurysm, Pulmonary arterial ... |
ORPHA:228116 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Ventricular escape rhythm, Myotonia, Sudden cardiac death, Supraventricular arrhythmia, Obesity, ... |
ORPHA:98863 |
| Maple Syrup Urine Disease |
|
Lethargy, Cerebral edema |
OMIM:248600 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Ventricular septal defect, Edema, Polyhydramnios, Atelectasis, Splenomegaly, Respir... |
OMIM:269860 |
| 15Q11.2 Microdeletion Syndrome |
|
Tetralogy of Fallot, Total anomalous pulmonary venous return, Coarctation of aorta |
ORPHA:261183 |
| Marfan Syndrome |
|
Aortic regurgitation, Pulmonary artery dilatation, Tricuspid regurgitation, Bicuspid aortic valve... |
OMIM:154700 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hypotension |
OMIM:177735 |
| Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy |
|
Pigmentary retinopathy |
ORPHA:329336 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Nephroblastoma, Cardiomegaly, Splenomegaly, Nephrolithiasis, ... |
ORPHA:116 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Nephroblastoma, Splenomegaly, Patent ductus arteriosus, Renal cyst, Ca... |
OMIM:312870 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections, Atrial septal defect, Unilateral breast h... |
OMIM:300968 |
| You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Double aortic arch, Vascular ring |
OMIM:616954 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Left superior vena cava draining... |
ORPHA:464738 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Mitral stenosis, Renal dysplasia |
OMIM:617260 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Portal hypertension, Premature graying of hair, Nail dystrophy, Pulmonary fibrosis, Emphysema |
OMIM:620365 |
| Immunodeficiency 23 |
|
Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczema, Bronchiectasis, Chronic muco... |
OMIM:615816 |
| Sandhoff Disease |
|
Hepatomegaly, Orthostatic hypotension, Reduced beta-hexosaminidase activity, Cardiomegaly, Hepato... |
OMIM:268800 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Memory impairment, Hypertension, Dementia, Hypotension |
ORPHA:93256 |
| Phaver Syndrome |
|
Pulmonary artery atresia, Hypoplastic aortic arch, Coarctation of aorta |
ORPHA:2876 |
| Post-Traumatic Pituitary Deficiency |
|
Hypotension |
ORPHA:95619 |
| Arterial Tortuosity Syndrome |
|
Aortic regurgitation, Carotid artery dissection, Pulmonary artery stenosis, Hypertension, Aortic ... |
OMIM:208050 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Tachycardia, Abnormal mucociliary clearance, Edema, Splenomegaly, Dyspnea, Nasal fl... |
ORPHA:90051 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Aortic regurgitation, Truncus arteriosus, Recurrent urinary tract infections, Aortic aneurysm |
ORPHA:261330 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Micropenis, Tricuspid regurgitation, Coarctation of aorta |
OMIM:618929 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:276621 |
| Cln3 Disease |
|
Pigmentary retinopathy, Optic atrophy, Bull's eye maculopathy |
ORPHA:228346 |
| Johanson-Blizzard Syndrome |
|
Hepatomegaly, Failure to thrive, Small for gestational age, Elevated circulating aspartate aminot... |
OMIM:243800 |
| Neuroendocrine Tumor Of Stomach |
|
Tricuspid regurgitation, Right ventricular failure, Hematemesis, Melena, Palpitations, Hypotensio... |
ORPHA:100075 |
| Familial Hypoaldosteronism |
|
Lethargy, Orthostatic hypotension, Hypovolemia, Hypotension |
ORPHA:427 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Aortic regurgitation, Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Renal cys... |
ORPHA:464311 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Double outlet left ventricle, Ventricular septal defect, Patent foramen ova... |
ORPHA:2255 |
| Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
| Au-Kline Syndrome |
|
Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Aortic root aneurysm, Vesic... |
OMIM:616580 |
| Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Bradycardia, Edema |
ORPHA:90673 |
| Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis |
ORPHA:83597 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Hypopigmentation of hair, Xerostomia, Lethargy |
ORPHA:398079 |
| Fanconi Anemia, Complementation Group B |
|
Patent ductus arteriosus, Micropenis, Renal agenesis, Coarctation of aorta |
OMIM:300514 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Truncal titubation, Lethargy |
OMIM:607483 |
| Infant Botulism |
|
Hypertension, Cardiac arrest, Hypotension |
ORPHA:178478 |
| Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Hypertrichosis, Generalized edema |
OMIM:271225 |
| Chromosome 5Q12 Deletion Syndrome |
|
Hypotension |
OMIM:615668 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Heart murmur, Enuresis nocturna, Mitral regurgitation, Enlarg... |
OMIM:615873 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Optic disc pallor, Pigmentary retinopathy, Retinal degeneration |
ORPHA:79264 |
| Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Cardiomegaly, Increased circulating interferon... |
OMIM:256040 |
| Trichinellosis |
|
Edema, Facial edema, Periorbital edema, Retinal hemorrhage, Apathy, Lethargy |
ORPHA:863 |
| Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:306400 |
| Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Palpitations, Hypotension, Pul... |
ORPHA:100078 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vesicoureteral reflux, Ascending tubular aorta aneurysm, Abnormal bladder morphology, Hydronephrosis |
ORPHA:453499 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Recurrent respiratory infections, Abnormal hair morphology, Atelectasis, Cough, Dystrophic finger... |
ORPHA:2314 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Pigmentary retinopathy |
OMIM:619059 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Splenomegaly,... |
OMIM:231005 |
| Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
| Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
| Nasolacrimal Duct Cyst |
|
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... |
ORPHA:141083 |
| Right Atrial Isomerism |
|
Aortopulmonary collateral arteries, Total anomalous pulmonary venous return, Transposition of the... |
OMIM:208530 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Hypospadias, Patent ductus arteriosus, Aminoaciduria, Albuminuria, Renal cortical m... |
OMIM:214100 |
| Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hepatomegaly, Nonimmune hydrops fetalis, Polyhydramnios, Synophrys, Pulmona... |
OMIM:620369 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Recurrent respiratory infections, Hepatomegaly, Apnea, Hypertrophic cardiom... |
ORPHA:17 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Recurrent pneumonia, Hypospadias, Hydronephrosis |
OMIM:616449 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypertrophic cardio... |
ORPHA:508 |
| Loeys-Dietz Syndrome 1 |
|
Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descending thoracic aorta aneury... |
OMIM:609192 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Periorbital edema, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Tracheomalacia, Emphys... |
OMIM:613177 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Aortic regurgitation, Hypospadias, Eczema, Unilateral renal agenesis, Patent ductus arteriosus, R... |
ORPHA:464306 |
| Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Abnormal erythrocyte... |
ORPHA:2388 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Telangiectasia of the skin, Renal hypoplasia/aplasia, Patent ductus... |
ORPHA:2092 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Atrial septal defect, Ventricular septal defect, Respiratory distress |
OMIM:610536 |
| Acute Radiation Syndrome |
|
Hypotension, Telangiectasia |
ORPHA:454831 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Hydronephrosis |
ORPHA:364028 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
| Citrullinemia Type Ii |
|
Lethargy, Mania, Cerebral edema, Hepatomegaly |
ORPHA:247585 |
| Mccune-Albright Syndrome |
|
Hepatocellular adenoma, Pancreatitis, Hepatitis, Cholestasis |
ORPHA:562 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Mitral regurgitation, Aortic root aneurysm |
OMIM:301039 |
| Tatton-Brown-Rahman Syndrome |
|
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... |
ORPHA:404443 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Mitral val... |
ORPHA:536467 |
| Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Coarctation of aorta, H... |
OMIM:617729 |
| Myotonia Congenita, Autosomal Recessive |
|
Percussion myotonia, Myotonia with warm-up phenomenon, Myotonia, EMG: myotonic runs |
OMIM:255700 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent urinary tract infections, Renal duplication, Eczema, Hypospadias, Intraventricular hemo... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Recurrent urinary tract infections, Renal duplication, Eczema, Hypospadias, Intraventricular hemo... |
ORPHA:363958 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Splenomegaly, Lethargy, Alopecia of scalp, Hepatomegaly |
OMIM:201100 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Patent ductus arteriosus, Partial anomalous pulmonary venous return, Hypoplastic aortic arch, Dex... |
OMIM:619702 |
| Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure, Anasarca |
OMIM:260450 |
| Whim Syndrome |
|
Sinusitis, Severe periodontitis, Pneumonia, Respiratory tract infection, Atelectasis, Lymphadenit... |
ORPHA:51636 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels |
OMIM:300578 |
| Marburg Hemorrhagic Fever |
|
Shock, Pericarditis, Tachycardia, Nonproductive cough, Hypovolemia, Dehydration, Capillary leak, ... |
ORPHA:99826 |
| Fucosidosis |
|
Hepatomegaly, Failure to thrive, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
| Bardet-Biedl Syndrome 17 |
|
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... |
OMIM:615994 |
| Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
| Cantú Syndrome |
|
Abnormal heart valve morphology, Curly eyelashes, Cardiomegaly, Low anterior hairline, Low poster... |
ORPHA:1517 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Bladder diverticulum, Antenatal intra... |
ORPHA:536545 |
| 46,Xy Sex Reversal 4 |
|
Recurrent otitis media, Ureteropelvic junction obstruction, Renal dysplasia, Hydronephrosis |
OMIM:154230 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Facial edema, Lethargy, Bradycardia, Depression |
ORPHA:90674 |
| Scalp-Ear-Nipple Syndrome |
|
Palpebral edema, Sparse axillary hair, Sparse pubic hair, Cardiac myxoma, Congestive heart failur... |
OMIM:181270 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Palpebral edema, Polyhydramnios, Generalized hypertrichosis |
ORPHA:50810 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Transient ischemic attack, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
| Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis |
ORPHA:2437 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Left ventricular hypertrophy, Hydron... |
OMIM:611209 |
| 15Q Overgrowth Syndrome |
|
Tricuspid regurgitation, Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Mi... |
ORPHA:314585 |
| Lysinuric Protein Intolerance |
|
Hepatomegaly, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Hepatosplenomeg... |
ORPHA:470 |
| Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:578 |
| Vulvovaginal Gingival Syndrome |
|
Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Retinal pigment epithelial mottling |
OMIM:619517 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Hydronephrosis |
OMIM:619179 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Pulmonary hypoplasia, Polyhydramnios |
OMIM:151210 |
| Acrocardiofacial Syndrome |
|
Hypoplasia of penis, Mitral stenosis, Hypospadias, Coarctation of aorta, Truncus arteriosus, Tetr... |
ORPHA:2008 |
| 9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:531151 |
| Poliomyelitis |
|
Hypertension, Hypovolemic shock, Confusion, Hypotension |
ORPHA:2912 |
| Argininosuccinic Aciduria |
|
Hepatomegaly, Dry hair, Brittle hair, Cerebral edema, Lethargy, Trichorrhexis nodosa |
OMIM:207900 |
| Boudin-Mortier Syndrome |
|
Aortic root aneurysm |
OMIM:619543 |
| Singleton-Merten Syndrome 1 |
|
Recurrent respiratory infections, Mitral valve calcification, Cardiomegaly, Aortic valve calcific... |
OMIM:182250 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Recurrent respiratory infections, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of... |
ORPHA:98914 |
| Congenital Myasthenic Syndrome |
|
Recurrent respiratory infections, Sudden episodic apnea, Polyhydramnios, Intermittent episodes of... |
ORPHA:590 |
| Vici Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Abnormal macula... |
ORPHA:1493 |
| Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis |
ORPHA:912 |
| Marfan Syndrome |
|
Mitral valve calcification, Spontaneous pneumothorax, Congestive heart failure, Emphysema, Mitral... |
ORPHA:558 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Tracheomalacia, Abnormality of hair texture, Sparse eyebrow, Congesti... |
ORPHA:2108 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Patent ductus art... |
OMIM:607872 |
| Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication |
ORPHA:96169 |
| Trisomy 8P |
|
Fetal pyelectasis, Heart murmur, Nephrocalcinosis, Micropenis, Tetralogy of Fallot, Hydronephrosi... |
ORPHA:264450 |
| Relapsing Fever |
|
Tachycardia, Epistaxis, Hypotension |
ORPHA:91547 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Absent eyebrow, Dyspnea, Respiratory failure, Thin eyebrow |
ORPHA:2707 |
| Exercise-Induced Malignant Hyperthermia |
|
Prolonged QT interval, Crackles, Tachypnea, ST segment depression, Hypotension, Hypocapnia, Abnor... |
ORPHA:466650 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... |
ORPHA:158684 |
| Maternal Phenylketonuria |
|
Abnormal renal morphology, Coarctation of aorta, Double outlet right ventricle, Tetralogy of Fall... |
ORPHA:2209 |
| Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1496 |
| Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Telangiectasia of the skin, Abnormal hair morphology, Aortic va... |
ORPHA:79474 |
| Meester-Loeys Syndrome |
|
Ascending tubular aorta aneurysm, Aortic root aneurysm, Dilatation of the cerebral artery, Aortic... |
OMIM:300989 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2 |
|
Pigmentary retinopathy |
OMIM:613156 |
| Odontochondrodysplasia |
|
Respiratory distress |
ORPHA:166272 |
| Incontinentia Pigmenti |
|
Alopecia, Telangiectasia of the skin, Supernumerary nipple, Abnormal hair morphology, Congestive ... |
ORPHA:464 |
| Severe Oculo-Renal-Cerebellar Syndrome |
|
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig... |
ORPHA:2715 |
| Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Transposi... |
OMIM:192350 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
| Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pericardial effusion, Splenomegaly, Iridocyclitis, Bronchiectasis, Abnormal pulmona... |
OMIM:181000 |
| Geleophysic Dysplasia 1 |
|
Hepatomegaly, Tricuspid stenosis, Congestive heart failure, Aortic valve stenosis, Mitral stenosis |
OMIM:231050 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly, Hydrops fetalis, Pulmonary hypoplasia,... |
OMIM:617022 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ascending tubular aorta aneurysm |
OMIM:309520 |
| Tarp Syndrome |
|
Tetralogy of Fallot, Persistent left superior vena cava, Hydronephrosis, Horseshoe kidney |
ORPHA:2886 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis |
OMIM:619362 |
| Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias, Hypertensive crisis |
ORPHA:1358 |
| Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic pancreatitis, Congestive heart failure, Obes... |
ORPHA:98908 |
| Glutaric Acidemia Type 3 |
|
Lethargy |
ORPHA:35706 |
| Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:2518 |
| Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
| Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Hypospadias, Ecze... |
OMIM:270400 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Gastrointestinal hemorrhage, Hepatomegaly, Congestive heart failure, Hepatosplenomegaly, Hyperten... |
ORPHA:85450 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Abnormal EKG, Cardiomegaly, Right bundle branch block, Reduced left ventricular ejection fraction... |
ORPHA:268 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... |
OMIM:187300 |
| Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy |
OMIM:268315 |
| 2P15P16.1 Microdeletion Syndrome |
|
Aortic regurgitation, Mitral regurgitation, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261349 |
| Plague |
|
Respiratory distress, Hepatomegaly, Tachycardia, Edema, Hematemesis, Splenomegaly, Endocarditis, ... |
ORPHA:707 |
| Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Recurrent respiratory infections, Hypopigmentation of hair, Abnormal heart ... |
ORPHA:177907 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Emphysema |
OMIM:618307 |
| Abetalipoproteinemia |
|
Hepatomegaly, Congestive heart failure, Respiratory failure, Cardiomegaly |
ORPHA:14 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Hydronephrosis, Telangiectasia |
ORPHA:247262 |
| Apert Syndrome |
|
Chronic otitis media, Overriding aorta, Acne, Hydronephrosis |
OMIM:101200 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... |
ORPHA:85167 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Hydronephrosis, Esophagitis, Hepatosplenomegaly |
ORPHA:541423 |
| Stt3B-Cdg |
|
Respiratory distress |
ORPHA:370924 |
| Coccidioidomycosis |
|
Respiratory distress, Pericarditis, Pneumonia, Vasculitis, Vasospasm, Cerebral ischemia, Pleural ... |
ORPHA:228123 |
| Ataxia With Vitamin E Deficiency |
|
Abnormality of retinal pigmentation |
ORPHA:96 |
| Pseudotrisomy 13 Syndrome |
|
Micropenis, Renal agenesis, Renal hypoplasia, Coarctation of aorta |
OMIM:264480 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress |
OMIM:615597 |
| Myotonic Dystrophy 2 |
|
Handgrip myotonia, Tachycardia, Myotonia, Premature ventricular contraction, Right bundle branch ... |
OMIM:602668 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Micropenis, Hydronephrosis |
OMIM:612513 |
| Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Retinal neovascularization |
OMIM:619074 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Pigmentary retinopathy, Rod-cone dystrophy |
OMIM:268020 |
| Joubert Syndrome 3 |
|
Pigmentary retinopathy, Retinal dystrophy |
OMIM:608629 |
| Occipital Horn Syndrome |
|
Orthostatic hypotension, Ureteral obstruction, Bladder diverticulum, Hydronephrosis, Carotid arte... |
OMIM:304150 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Aortic aneurysm |
OMIM:182212 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent urinary tract infections, Hypospadias, Pneumonia, Cardiac conduction abnormality, Paten... |
ORPHA:353281 |
| Diffuse Cutaneous Mastocytosis |
|
Gastrointestinal hemorrhage, Hypotension |
ORPHA:79456 |
| Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Episcleritis, Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Sp... |
OMIM:602782 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Abnormal aortic morphology, Chronic otitis med... |
ORPHA:1507 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Oromandibular Dystonia |
|
Respiratory distress, Depression |
ORPHA:93958 |
| Cryptococcosis |
|
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effus... |
ORPHA:1546 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Cerebral hemorrhage, Congestive heart failure, Palpitations, Positive regitine blocking test, Sin... |
ORPHA:29072 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Hydronephrosis, Aortic aneurysm |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Vesicoureteral reflux, Hydronephrosis, Aortic aneurysm |
ORPHA:352665 |
| Hydranencephaly |
|
Lethargy, Dilatation of the ventricular cavity, Antenatal intracerebral hemorrhage |
ORPHA:2177 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Lethargy |
ORPHA:2089 |
| Micro Syndrome |
|
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney |
ORPHA:2510 |
| Beck-Fahrner Syndrome |
|
Depression, Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Kabuki Syndrome 2 |
|
Recurrent otitis media, Horseshoe kidney, Pulmonic stenosis, Coarctation of aorta |
OMIM:300867 |
| Aceruloplasminemia |
|
Congestive heart failure, Apathy |
ORPHA:48818 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra... |
OMIM:610655 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hypertension, Chronic otitis medi... |
ORPHA:2750 |
| Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... |
ORPHA:2044 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hepatomegaly, Stridor |
OMIM:615595 |
| Leber Congenital Amaurosis 15 |
|
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... |
OMIM:613843 |
| Infantile Krabbe Disease |
|
Abnormal heart rate variability, Respiratory failure, Respiratory distress |
ORPHA:206436 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Depression |
OMIM:128100 |
| Alström Syndrome |
|
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Otitis media, Hepatic steatosis, Hepa... |
ORPHA:64 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Congestive heart failure, Recurrent pneumonia, Arterial rupture, Res... |
OMIM:225400 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Recurrent skin infections, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidn... |
ORPHA:2953 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Atrioventricular block, Coarctation of aorta, Hypertension, Arthritis, Double outlet right ventricle |
ORPHA:371428 |
| Moebius Syndrome |
|
Respiratory distress |
OMIM:157900 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis, Erythroderma |
ORPHA:35173 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ureteropelvic junction obstruction, Hepatomegaly, Duplicated collecting system, Pulmonary artery ... |
OMIM:280000 |
| Pituitary Apoplexy |
|
Hypertension, Confusion, Hypotension |
ORPHA:95613 |
| Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Hepatomegaly, Thick hair, Cardiomegaly, Respiratory tract inf... |
ORPHA:581 |
| Ramos-Arroyo Syndrome |
|
Respiratory distress, Sparse scalp hair, Xerostomia, Atrial septal defect, High anterior hairline |
ORPHA:1051 |
| Weill-Marchesani Syndrome 2 |
|
Ventricular septal defect, Congestive heart failure, Mitral regurgitation, Pulmonic stenosis, Aor... |
OMIM:608328 |
| Aggressive Systemic Mastocytosis |
|
Hypotension, Gastrointestinal hemorrhage, Portal hypertension |
ORPHA:98850 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Lethargy, Apnea |
ORPHA:395 |
| Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis |
ORPHA:3079 |
| Pheochromocytoma |
|
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit... |
OMIM:171300 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Nonimmune hydrops fetalis, Cardiomegaly |
OMIM:618838 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Optic atrophy, Retinal dyspl... |
OMIM:613154 |
| Webb-Dattani Syndrome |
|
Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis |
OMIM:615926 |
| Generalized Pustular Psoriasis |
|
Congestive heart failure, Pedal edema |
ORPHA:247353 |
| Myotonia Fluctuans |
|
Handgrip myotonia, Myotonia of the upper limb, Myotonia of the lower limb, Cold-sensitive myotoni... |
ORPHA:99734 |
| Lysosomal Acid Lipase Deficiency |
|
Psychomotor deterioration, Bone-marrow foam cells, Precocious atherosclerosis, Hypovolemia, Hypot... |
ORPHA:275761 |
| Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Long penis, Nephrolit... |
OMIM:135500 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Polycys... |
ORPHA:2237 |
| Mosaic Trisomy 1 |
|
Renal cortical cysts, Renal cyst, Coarctation of aorta, Pulmonary artery atresia, Micropenis, Pen... |
ORPHA:1692 |
| Hypokalemic Periodic Paralysis |
|
Impaired myocardial contractility, Myotonia |
ORPHA:681 |
| Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
| Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Hypospadias, Coarctation of aorta |
OMIM:617602 |
| Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydronephrosis |
ORPHA:2315 |
| Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
| Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:568 |
| Vascular Ehlers-Danlos Syndrome |
|
Osteoarthritis, Periodontitis, Internal hemorrhage, Peripheral arteriovenous fistula, Hypospadias... |
ORPHA:286 |
| Achondroplasia |
|
Respiratory distress, Upper airway obstruction, Pulmonary hypoplasia, Polyhydramnios |
OMIM:100800 |
| Jacobsen Syndrome |
|
Multicystic kidney dysplasia, Eczema, Coarctation of aorta, Aortic valve stenosis, Hydronephrosis |
ORPHA:2308 |
| 3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Patent ductus arteriosus, Hydronephrosis |
OMIM:257920 |
| Robinow Syndrome |
|
Multicystic kidney dysplasia, Coarctation of aorta, Pulmonic stenosis, Webbed penis, Micropenis, ... |
ORPHA:97360 |
| Neonatal Marfan Syndrome |
|
Tricuspid regurgitation, Heart murmur, Ascending tubular aorta aneurysm, Mitral regurgitation, Ao... |
ORPHA:284979 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Aortic regurgitation, Tricuspid regurgitation, Mitral regurgitation, Aortic root aneurysm, Left v... |
ORPHA:230851 |
| Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Myocarditis, Hypotension |
ORPHA:3452 |
| Chime Syndrome |
|
Hydronephrosis, Tetralogy of Fallot, Transposition of the great arteries, Abnormality of the kidney |
ORPHA:3474 |
| Neuroleptic Malignant Syndrome |
|
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Arrhythmia, Delirium, Hy... |
ORPHA:94093 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy |
ORPHA:88628 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
| Lowry-Maclean Syndrome |
|
Hypospadias, Coarctation of aorta |
ORPHA:2409 |
| Castleman Disease |
|
Decreased mean corpuscular volume, Thrombocytopenia, Anemia |
ORPHA:160 |
| Friedreich Ataxia 2 |
|
Abnormal EKG, Muscular subvalvular aortic stenosis, Concentric hypertrophic cardiomyopathy, Conge... |
OMIM:601992 |
| Genetic Transient Congenital Hypothyroidism |
|
Lethargy, Edema |
ORPHA:226316 |
| Osteogenesis Imperfecta |
|
Aortic regurgitation, Cerebral hemorrhage, Osteoarthritis, Nephrolithiasis, Hypercalciuria, Aorti... |
ORPHA:666 |
| Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Lethargy, Tachypnea |
OMIM:615751 |
| Mosaic Trisomy 16 |
|
Hypospadias, Patent ductus arteriosus, Horseshoe kidney, Coarctation of aorta, Single coronary ar... |
ORPHA:1708 |
| Fucosidosis |
|
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Splenomegaly, Failure to thrive |
OMIM:230000 |
| Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
| Al-Gazali Syndrome |
|
Recurrent pneumonia, Hydronephrosis |
OMIM:609465 |
| Alagille Syndrome 1 |
|
Duplicated collecting system, Multiple small medullary renal cysts, Renal hypoplasia, Stage 5 chr... |
OMIM:118450 |
| Tsh-Secreting Pituitary Adenoma |
|
Abnormal hair quantity, Supraventricular arrhythmia, Pericardial effusion, Congestive heart failu... |
ORPHA:91347 |
| Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
| Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Acne, Unilateral renal agenesis, Seborrheic dermatitis, Spl... |
OMIM:188400 |
| 22Q11.2 Deletion Syndrome |
|
Gastrointestinal hemorrhage, Bipolar affective disorder, Ventricular septal defect, Abnormal pulm... |
ORPHA:567 |
| Isolated Succinate-Coq Reductase Deficiency |
|
Pigmentary retinopathy |
ORPHA:3208 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary stenosis, Coarctat... |
OMIM:618164 |
| Distal Deletion 12Q |
|
Late onset atopic dermatitis, Ectopic kidney, Patent ductus arteriosus, Congenital hypertrophy of... |
ORPHA:96149 |
| Floating-Harbor Syndrome |
|
Hypospadias, Glandular hypospadias, Atopic dermatitis, Coarctation of aorta, Nephrocalcinosis, Co... |
OMIM:136140 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Osteoarthritis, Aortic root aneurysm, Recurrent sinusitis |
OMIM:130000 |
| Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Sparse eyebrow, Respiratory distress, Low posterior hairline |
OMIM:606164 |
| Bohring-Opitz Syndrome |
|
Recurrent respiratory infections, Cardiomegaly, Abnormal cardiac septum morphology, Bradycardia, ... |
ORPHA:97297 |
| Pfeiffer Syndrome Type 3 |
|
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney |
ORPHA:93260 |
| Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Ventricular septal defect, Dextrocardia, Abnormal heart valve morphology,... |
ORPHA:289 |
| Pde4D Haploinsufficiency Syndrome |
|
Hypotension |
ORPHA:439822 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteoarthritis, Aortic root aneurysm, Prominent superficial veins, Carotid artery stenosis |
OMIM:618000 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Coarctation of aorta |
OMIM:600987 |
| Cardiofaciocutaneous Syndrome 1 |
|
Splenomegaly, Atopic dermatitis, Pulmonic stenosis, Hypertrophic cardiomyopathy, Hydronephrosis |
OMIM:115150 |
| Teebi-Shaltout Syndrome |
|
Aortic valve stenosis, Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Recurrent otitis media, Hypertension, Aortic root aneurysm |
ORPHA:449291 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Transient ischemic attack, Myocardial infarction |
OMIM:274150 |
| Noonan Syndrome 10 |
|
Patent ductus arteriosus, Coarctation of aorta, Hypertrophic cardiomyopathy, Mitral regurgitation... |
OMIM:616564 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Ventricular septal defect |
OMIM:613309 |
| Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Hepatomegaly, Neonatal respiratory distress, Respiratory distress |
OMIM:260400 |
| Tetrasomy 9P |
|
Renal dysplasia, Myositis, Juxtaductal coarctation of the aorta, Pericarditis, Recurrent urinary ... |
ORPHA:3310 |
| Hennekam-Beemer Syndrome |
|
Arrhythmia, Telangiectasia of the skin, Hypotension |
ORPHA:2135 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Aortic regurgitation, Osteomyelitis, Hypospadias, Congestive heart failure, Heart murmur, Hematur... |
OMIM:619475 |
| Refsum Disease |
|
Abnormality of retinal pigmentation, Retinopathy |
ORPHA:773 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia |
OMIM:245400 |
| Visceral Myopathy 1 |
|
Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis |
OMIM:155310 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, E... |
OMIM:242700 |
| Joubert Syndrome 8 |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:612291 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Total anomalous pulmonary venou... |
ORPHA:487796 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas |
OMIM:560000 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Aortic regurgitation, Multicystic kidney dysplasia, Coarctation of aorta, Abnormal aortic morphol... |
ORPHA:1052 |
| Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Vascular dilatation, Varicose veins, Pulmonic stenosis, Aortic dissection |
OMIM:618343 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hypertension |
ORPHA:1555 |
| Citrullinemia, Classic |
|
Lethargy, Cerebral edema, Hepatomegaly |
OMIM:215700 |
| Williams Syndrome |
|
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Periorbital edema, Atrial septal defe... |
ORPHA:904 |
| Rodrigues Blindness |
|
Sparse hair, Nasal flaring, Fine hair |
OMIM:268320 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypothermia |
OMIM:614498 |
| Sandifer Syndrome |
|
Hematemesis, Abnormal posturing |
ORPHA:71272 |
| Mycophenolate Mofetil Embryopathy |
|
Ectopic kidney, Coarctation of aorta |
ORPHA:268249 |
| Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... |
OMIM:616268 |
| Viss Syndrome |
|
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Arterial tortuosity, Patent d... |
OMIM:619472 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Hydronephrosis, Erythroderma |
OMIM:302960 |
| Gitelman Syndrome |
|
Prolonged QT interval, Respiratory distress, Pericardial effusion, Raynaud phenomenon, Low-to-nor... |
ORPHA:358 |
| Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1225 |
| Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Short nail, Polyhydramnios, Tracheobr... |
OMIM:114290 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Retinal pigment epithelial mottling |
OMIM:614105 |
| Congenital Myopathy 17 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia |
OMIM:618975 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Lethargy, Alopecia |
OMIM:210210 |
| Yuan-Harel-Lupski Syndrome |
|
Aortic root aneurysm, Double outlet right ventricle |
OMIM:616652 |
| Brody Disease |
|
Percussion myotonia, Myotonia |
OMIM:601003 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Infectious en... |
ORPHA:847 |
| Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul... |
OMIM:216550 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
| X Small Rings |
|
Mitral stenosis, Fetal pyelectasis, Aortic root aneurysm |
ORPHA:96201 |
| Rubinstein-Taybi Syndrome 1 |
|
Facial hypertrichosis, Broad eyebrow, Thick eyebrow, Respiratory distress, Ventricular septal def... |
OMIM:180849 |
| Pelvis-Shoulder Dysplasia |
|
Hydronephrosis |
ORPHA:2839 |
| Keutel Syndrome |
|
Peripheral pulmonary artery stenosis, Sinusitis, Ventricular septal defect, Hypertension, Pulmona... |
OMIM:245150 |
| Isotretinoin-Like Syndrome |
|
Patent ductus arteriosus, Abnormal aortic arch morphology, Conotruncal defect, Abnormality of the... |
ORPHA:2306 |
| Cutis Laxa, Autosomal Recessive, Type Ib |
|
Arterial tortuosity, Aortic root aneurysm, Generalized arterial tortuosity, Bradycardia, Pulmonar... |
OMIM:614437 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Hydronephrosis |
OMIM:617798 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress |
OMIM:618201 |
| 8Q24.3 Microdeletion Syndrome |
|
Gastrointestinal hemorrhage, Respiratory distress, Ventricular septal defect, Highly arched eyebr... |
ORPHA:508488 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Hepatomegaly, Aortopulmonary collateral arteries, Aortopulmonary window, Pulmonary artery hypopla... |
OMIM:620025 |
| Restrictive Dermopathy 2 |
|
Respiratory distress |
OMIM:619793 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
| Noonan Syndrome 2 |
|
Abnormal coronary artery origin, Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, ... |
OMIM:605275 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Lethargy, Depression |
ORPHA:99832 |
| Fontaine Progeroid Syndrome |
|
Prominent superficial veins, Tricuspid regurgitation, Patent ductus arteriosus, Left ventricular ... |
OMIM:612289 |
| Myotonia, Potassium-Aggravated |
|
Percussion myotonia, Handgrip myotonia, Myotonia |
OMIM:608390 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Sparse scalp hair, Neonatal respiratory d... |
OMIM:614748 |
| Larsen Syndrome |
|
Aortic aneurysm |
OMIM:150250 |
| Transcobalamin Ii Deficiency |
|
Lethargy, Hepatomegaly |
OMIM:275350 |
| Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia |
OMIM:156550 |
| Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Tachycardia, Epistaxis, Confusion, Diffuse alveolar hemorrhage, Hematemesis,... |
ORPHA:99827 |
| Charge Syndrome |
|
Aortic arch aneurysm, Patent ductus arteriosus, Horseshoe kidney, Interrupted aortic arch, Vesico... |
ORPHA:138 |
| Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Double outlet right ventricle with doubly committed ve... |
ORPHA:1596 |
| Contractural Arachnodactyly, Congenital |
|
Aortic root aneurysm, Patent ductus arteriosus, Mitral regurgitation |
OMIM:121050 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Micropenis, Renal agenesis, Hypospadias, Hydronephrosis |
OMIM:301040 |
| Generalized Arterial Calcification Of Infancy |
|
Hyperphosphaturia, Medial calcification of large arteries, Transient ischemic attack, Coronary ar... |
ORPHA:51608 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Stridor, Lethargy, Bradycardia |
OMIM:218700 |
| Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Recurrent urinary tract infections, Sinusitis, Recurrent pneumonia, ... |
OMIM:251260 |
| Osteogenesis Imperfecta, Type Vii |
|
Absent pulmonary artery, Hydronephrosis, Hypoplastic pulmonary veins |
OMIM:610682 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent urinary tract infections, Hypospadias, Pneumonia, Cardiac conduction abnormality, Abnor... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent urinary tract infections, Hypospadias, Pneumonia, Cardiac conduction abnormality, Abnor... |
ORPHA:353277 |
| Fg Syndrome Type 1 |
|
Pulmonary arterial hypertension, Hypospadias, Coarctation of aorta |
ORPHA:93932 |
| Pachyonychia Congenita |
|
Respiratory distress, Alopecia, Nail dystrophy |
ORPHA:2309 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia |
OMIM:214110 |
| Oculoectodermal Syndrome |
|
Transient ischemic attack, Patent ductus arteriosus, Coarctation of aorta, Hypertrophic cardiomyo... |
OMIM:600268 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Aortic valve stenosis, Coarctation of aorta |
ORPHA:2780 |
| Cardiofaciocutaneous Syndrome |
|
Hypertrophic cardiomyopathy, Hydronephrosis, Pulmonic stenosis |
ORPHA:1340 |
| Cohen Syndrome |
|
Abnormality of retinal pigmentation, Chorioretinal dystrophy, Optic atrophy, Abnormality of skin ... |
ORPHA:193 |
| Encephalocraniocutaneous Lipomatosis |
|
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Pulmonary arterial hyp... |
ORPHA:2396 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Hypopnea, Recurrent lower respiratory... |
OMIM:618426 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Tricuspid regurgitation, Patent ductus arteriosus, Aortic rupture, Bladder diverticulum, Mitral r... |
OMIM:614557 |
| Occipital Horn Syndrome |
|
Esophagitis, Jaundice, Hepatitis, Cholestasis |
ORPHA:198 |
| Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease |
OMIM:613848 |
| Beta-Ketothiolase Deficiency |
|
Hypertension, Hypotension |
ORPHA:134 |
| Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... |
ORPHA:84 |
| Glycine Encephalopathy |
|
Lethargy, Respiratory acidosis, Breathing dysregulation |
ORPHA:407 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Tricuspid regurgitation, Patent ductus arteriosus, Hypoplastic aortic arch, Coarctation of aorta,... |
OMIM:617506 |
| Eec Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Keratitis, Inflammatory abnormality of the eye, Urethral a... |
ORPHA:1896 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Prolonged QT interval, Tachycardia, Hypospadias, Abnormality of the kidney, Epispadias, Horseshoe... |
ORPHA:1772 |
| Retinoblastoma |
|
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Retina... |
ORPHA:790 |
| Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:96061 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Absent eyela... |
OMIM:305100 |
| Knobloch Syndrome 1 |
|
Duplicated collecting system, Patent ductus arteriosus, Bifid ureter, Hydronephrosis, Renal dupli... |
OMIM:267750 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Dilated cardiomyopathy, Nail dystrophy, Depression |
ORPHA:79408 |
| Simpson-Golabi-Behmel Syndrome |
|
Prolonged QT interval, Bundle branch block, Ureteral duplication, Hypoplasia of penis, Multicysti... |
ORPHA:373 |
| African Trypanosomiasis |
|
Abnormal EKG, Pericarditis, Alopecia, Hepatomegaly, Myocarditis, Congestive heart failure, Spleno... |
ORPHA:3385 |
| 15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
| Pearson Marrow-Pancreas Syndrome |
|
Lethargy, Hydrops fetalis, Dehydration, Hepatomegaly |
OMIM:557000 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:2163 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Aortic regurgitation, Hypospadias, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Coarctatio... |
ORPHA:508498 |
| Stromme Syndrome |
|
Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Patent ... |
ORPHA:818 |
| Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:585 |
| Teebi Hypertelorism Syndrome 1 |
|
Aortic root aneurysm |
OMIM:145420 |
| Lacrimoauriculodentodigital Syndrome |
|
Patent ductus arteriosus, Renal hypoplasia, Keratoconjunctivitis, Hydronephrosis, Arthritis, Kera... |
ORPHA:2363 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Low alkaline phosphatase, ... |
OMIM:618143 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
| Lowry-Wood Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:1824 |
| Menkes Disease |
|
Hypothermia |
OMIM:309400 |
| Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Hypertension, Hypotension |
OMIM:174000 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Optic atrophy, Pigmentary retinopathy |
OMIM:617282 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Pigmentary retinopathy |
OMIM:600462 |
| Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Micropenis, Coarctation of aorta, Recurrent otitis media, Ureteropel... |
OMIM:147920 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Hypertension |
OMIM:123790 |
| Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Emphysema, Long eyelashes, Breast hypoplasia |
OMIM:224690 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Right ventricular outlet tract obstruction, Micropenis, Hydron... |
OMIM:268310 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria |
ORPHA:101000 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Dark urine, Hepatomegaly, Tricuspid regurgitation, Left-to-right shunt, Car... |
OMIM:619534 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Facial edema, Lethargy, Bradycardia |
ORPHA:226307 |
| Phace Syndrome |
|
Cerebral arteriovenous malformation, Coarctation of aorta, Aortic root aneurysm, Abnormal carotid... |
ORPHA:42775 |
| Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Hydronephrosis |
OMIM:305620 |
| Familial Glucocorticoid Deficiency |
|
Hypertrophic cardiomyopathy, Hypotension |
ORPHA:361 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hypertension, Keratoconjunctivitis sicca, Aortic root aneurysm |
OMIM:616914 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Heparan sulfate excretion in urine, Splenomegaly, Peripheral arterial stenosis, Heart murmur, Hep... |
ORPHA:217085 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Handgrip myotonia, Percussion-induced rapid rolling muscle contractions, Myotonia |
ORPHA:324442 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Myocardial infarction, Pulmonary embolism, Dyspnea, Hypertension, Budd-Chiari syndrome, Lethargy |
ORPHA:447 |
| Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Lethargy, Cerebral edema |
OMIM:311250 |
| Campomelic Dysplasia |
|
Hydronephrosis |
ORPHA:140 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Coarse hair, Perimembranous ventricular septal defect, Pulmon... |
ORPHA:83617 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly, Synophrys, Low posterior hairline, Hirsutism, Mucosal telangiectasiae |
ORPHA:2463 |
| Adnp Syndrome |
|
Respiratory distress, Sparse scalp hair, Recurrent upper respiratory tract infections, Aspiration... |
ORPHA:404448 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lymphedema, Cardiomegaly, Lip tela... |
ORPHA:79280 |
| Gitelman Syndrome |
|
Prolonged QT interval, Ventricular tachycardia, Palpitations, Hypotension |
OMIM:263800 |
| White-Kernohan Syndrome |
|
Recurrent otitis media, Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Hydronephrosis |
ORPHA:254528 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Heparan sulfate excretion in urine, Splenomegaly, Peripheral arterial stenosis, Heart murmur, Hep... |
ORPHA:217093 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Ectopic kidney, Renal hypopla... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Ectopic kidney, Renal hypopla... |
ORPHA:99228 |
| Monosomy X |
|
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Ectopic kidney, Renal hypopla... |
ORPHA:99226 |
| Turner Syndrome |
|
Aortic arch aneurysm, Prolonged QT interval, Myocardial infarction, Ectopic kidney, Renal hypopla... |
ORPHA:881 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Pigmentary retinopathy |
OMIM:612582 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Pigmentary retinopathy, Rod-cone dystrophy |
ORPHA:2235 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Myotonia |
OMIM:254950 |
| Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Coarctation of aorta |
OMIM:614114 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Periodontitis, Hydronephrosis |
OMIM:619269 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Aortic root aneurysm, Chordee, Hypospadias |
OMIM:618891 |
| Phacoanaphylactic Uveitis |
|
Anterior uveitis, Keratitis, Hyphema, Retinal arteritis, Panuveitis, Posterior uveitis |
ORPHA:209959 |
| Charge Syndrome |
|
Overriding aorta, Renal agenesis, Patent ductus arteriosus, Renal hypoplasia, Horseshoe kidney, M... |
OMIM:214800 |
| Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
| Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M... |
ORPHA:1969 |
| Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Hypospadias, Ureteral obstruction |
ORPHA:90652 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Tachycardia, Syncope, Hypotension |
ORPHA:98849 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Seborrheic dermatitis, Patent ductus arteriosus, Dilatat... |
OMIM:274000 |
| Loeys-Dietz Syndrome 5 |
|
Eosinophilic infiltration of the esophagus, Osteoarthritis, Aortic root aneurysm, Mitral regurgit... |
OMIM:615582 |
| Coffin-Lowry Syndrome |
|
Abnormality of retinal pigmentation, Optic atrophy |
ORPHA:192 |
| Prolidase Deficiency |
|
Abnormality of retinal pigmentation, White forelock |
ORPHA:742 |
| Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Angina pectoris, Pericardial effusion, Abnormal live... |
ORPHA:79318 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Prominent scalp veins, Aortic valve stenosis, Ascending tubular aorta aneurysm, Pulmonic stenosis |
ORPHA:536471 |
| Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Lethargy |
OMIM:277400 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Distal renal tubular acidosis, Proximal renal tubular acidosis, Nephrolithiasis, Re... |
ORPHA:2785 |
| Dubowitz Syndrome |
|
Hydronephrosis, Hypospadias, Eczema |
ORPHA:235 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Slender build, Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Cardiome... |
OMIM:300967 |
| Hereditary Fructose Intolerance |
|
Lethargy, Hepatomegaly |
ORPHA:469 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Patent ductus arteriosus, ... |
OMIM:619522 |
| Multiple Endocrine Neoplasia Type 1 |
|
Shortened QT interval, Hematemesis, Dehydration, Depression, Melena, Hypertension, Lethargy |
ORPHA:652 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Myotonia |
ORPHA:371 |
| Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Patent... |
ORPHA:709 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Horseshoe kidney, Coarctation of aorta |
OMIM:617088 |
| Holoprosencephaly |
|
Hypoplasia of penis, Proteinuria, Abnormality of the urinary system, Abnormal aortic morphology, ... |
ORPHA:2162 |
| Orofaciodigital Syndrome Vi |
|
Renal agenesis, Renal dysplasia, Coarctation of aorta |
OMIM:277170 |
| Pantothenate Kinase-Associated Neurodegeneration |
|
Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal flecks, Rod-cone dystrophy... |
ORPHA:157850 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Venous insufficiency, Osteoarthritis, Cystocele, Ascending tubular aorta aneurysm, Keratoconjunct... |
ORPHA:285 |
| Schinzel-Giedion Syndrome |
|
Respiratory distress, Recurrent pneumonia, Abnormal heart morphology, Pulmonary hypoplasia, Gener... |
ORPHA:798 |
| Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia |
OMIM:236700 |
| Raine Syndrome |
|
Hydroureter, Hydronephrosis |
OMIM:259775 |
| Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
| Trisomy 18 |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:3380 |
| Muscular Dystrophy, Barnes Type |
|
Myotonia |
OMIM:158800 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Patent ductus arteriosus, Anomalous origin of left subclavian artery, Nephrolithiasis, Pulmonic s... |
ORPHA:438213 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Freckling, Optic atrophy, Pigmentary retinopathy |
OMIM:610651 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Bladder diverticulum,... |
OMIM:129900 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect |
OMIM:183900 |
| Acute Adrenal Insufficiency |
|
Hypotension, Orthostatic hypotension, Hypovolemia, Myocardial infarction |
ORPHA:95409 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress |
ORPHA:438216 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Myotonia |
OMIM:170400 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Myotonia |
OMIM:255710 |
| Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
| Bardet-Biedl Syndrome |
|
Pigmentary retinopathy |
ORPHA:110 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... |
ORPHA:2526 |
| Alexander Disease |
|
Hypotension, Hypertension, Sudden cardiac death |
ORPHA:58 |
| Cousin Syndrome |
|
Hydronephrosis |
OMIM:260660 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration |
OMIM:618733 |
| Acetazolamide-Responsive Myotonia |
|
Myotonia |
ORPHA:99736 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Aortic root aneurysm |
OMIM:615349 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Cardiomegaly, Dehydration... |
ORPHA:96191 |
| Melnick-Needles Syndrome |
|
Recurrent otitis media, Pulmonary arterial hypertension, Ureteral stenosis, Hydronephrosis |
OMIM:309350 |
| Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
| Toriello-Carey Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Cardiomyopathy, Pulmonic stenosis, Tetralogy of F... |
ORPHA:3338 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Low posterior hairline, Atrial septal... |
OMIM:245600 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hypotension |
ORPHA:90791 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Carotid artery stenosis, Prominent veins on trunk, Varicose veins, Keratoconjunctivitis sicca, Ao... |
ORPHA:536532 |
| Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias, Patent ductus arteriosus, Ascending tubular aorta aneurysm, Tr... |
ORPHA:1662 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Myotonia |
OMIM:310440 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Curly hair, Cardiomyopathy, Hypoplastic nipples, Atrial septal defect, Recu... |
ORPHA:480880 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... |
OMIM:130050 |
| Non-Functioning Pituitary Adenoma |
|
Hypotension |
ORPHA:91349 |
| Kearns-Sayre Syndrome |
|
Pigmentary retinopathy |
OMIM:530000 |
| Bartter Syndrome, Type 3 |
|
Hypotension |
OMIM:607364 |
| Neuroendocrine Neoplasm Of Appendix |
|
Palpitations, Heart murmur, Tricuspid stenosis, Hypotension |
ORPHA:100079 |
| Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Myotonia |
ORPHA:209335 |
| Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Recurrent respiratory infections, Hepatomegaly |
OMIM:615273 |
| Thyrotoxic Periodic Paralysis |
|
Prolonged QT interval, Myotonia, Shortened PR interval, Obesity, Weight loss, Impaired myocardial... |
ORPHA:79102 |
| Spinocerebellar Ataxia Type 7 |
|
Congestive heart failure |
ORPHA:94147 |
| Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder |
OMIM:616973 |
| Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Peripheral arterial stenosis, Cardiomyopathy, Hypertension, Abnormal ... |
ORPHA:580 |
| Lowry-Wood Syndrome |
|
Pigmentary retinopathy |
OMIM:226960 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Hydronephrosis, Unilateral renal agenesis |
OMIM:308050 |
| Coffin-Siris Syndrome 1 |
|
Hydroureter, Hypospadias, Ectopic kidney, Patent ductus arteriosus, Renal hypoplasia, Tetralogy o... |
OMIM:135900 |
| Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Pigmentary retinopathy, Optic atrophy |
ORPHA:436271 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Hydronephrosis |
OMIM:271520 |
| Aicardi Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... |
ORPHA:50 |
| Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Lethargy, Hepatomegaly |
OMIM:229600 |
| Hyperkalemic Periodic Paralysis |
|
Myotonia |
OMIM:170500 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Aortic regurgitation, Tricuspid regurgitation, Recurrent skin infections, Nephrotic syndrome, Mit... |
OMIM:601776 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Aortic regurgitation, Patent ductus arteriosus, Coarctation of aorta, Ascending tubular aorta ane... |
OMIM:612474 |
| Myotonia Permanens |
|
Myotonia |
ORPHA:99735 |
| Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Pigmentary retinopathy |
ORPHA:502423 |
| Fryns Syndrome |
|
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis |
OMIM:229850 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis |
OMIM:269150 |
| Stuve-Wiedemann Syndrome 1 |
|
Pulmonary arterial hypertension, Myotonia, Pulmonary arterial medial hypertrophy, Pulmonary hypop... |
OMIM:601559 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy |
ORPHA:96180 |
| Episodic Ataxia, Type 2 |
|
Myotonia |
OMIM:108500 |
| Usher Syndrome |
|
Abnormality of retinal pigmentation |
ORPHA:886 |
| Prolactinoma |
|
Hypotension |
ORPHA:2965 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Recurrent respiratory infections, Atelectasis, Dehydration, Fine hair, Depress... |
ORPHA:534 |
| Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Splenomegaly, Patent ductus arteriosus, Abnormality of... |
OMIM:249000 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Myotonia |
ORPHA:391307 |
| Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... |
ORPHA:167 |
| Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... |
ORPHA:79500 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Episcleritis, Hydroureter, Eczema, Abnormality of the kidney, Abnormality of the upper urinary tr... |
ORPHA:2273 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Trichiasis, ... |
ORPHA:95455 |
| Frontometaphyseal Dysplasia |
|
Hydronephrosis, Urethral stenosis, Ureteral obstruction |
ORPHA:1826 |
| Heart Block, Congenital |
|
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... |
OMIM:234700 |
| Monosomy 22Q13.3 |
|
Recurrent skin infections, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephritis, Renal... |
ORPHA:48652 |
| Yunis-Varon Syndrome |
|
Sparse scalp hair, Ventricular septal defect, Sparse eyelashes, Polyhydramnios, Cardiomegaly, Spa... |
ORPHA:3472 |
| Classical Ehlers-Danlos Syndrome |
|
Orthostatic hypotension, Osteoarthritis, Arterial rupture, Bladder diverticulum, Aortic root aneu... |
ORPHA:287 |
| Myopathy, Mitochondrial, And Ataxia |
|
Pigmentary retinopathy |
OMIM:617675 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Hypospadias, Pulmonary artery sling, Urinary incontinence, Vesicour... |
ORPHA:261537 |
| Classic Homocystinuria |
|
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation |
ORPHA:394 |
| Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Pulmonary artery sling, Urinary incontinence, Abnormal... |
ORPHA:2152 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Myotonia |
OMIM:615491 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Hypospadias, Pulmonary artery sling, Urinary incontinence, Patent d... |
ORPHA:261552 |
| Schwartz-Jampel Syndrome |
|
Myotonia, Cachexia, Decreased body weight, Pulmonary arterial hypertension, Arrhythmia, Elevated ... |
ORPHA:800 |
| Okamoto Syndrome |
|
Urinary incontinence, Splenomegaly, Unilateral renal hypoplasia, Aortic valve stenosis, Ureterope... |
ORPHA:2729 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Macular edema, Re... |
ORPHA:91500 |
| Cockayne Syndrome Type 1 |
|
Pigmentary retinopathy, Optic atrophy, Hypermelanotic macule |
ORPHA:90321 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Tetralogy of Fallot, Coarctation of aorta |
OMIM:618748 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Renal hypoplasia/aplasia, Abnormal renal morphology, Mitral regurgitation, Pulmonic st... |
ORPHA:363700 |
| Bardet-Biedl Syndrome 1 |
|
Bone spicule pigmentation of the retina, Retinal dystrophy, Hyperautofluorescent macular lesion, ... |
OMIM:209900 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hypothermia |
OMIM:618493 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Breast aplasia |
ORPHA:2554 |
| Wiedemann-Rautenstrauch Syndrome |
|
Prominent scalp veins, Recurrent urinary tract infections, Recurrent skin infections, Hypospadias... |
ORPHA:3455 |
| Kaufman Oculocerebrofacial Syndrome |
|
Coarctation of aorta |
OMIM:244450 |
| Kufor-Rakeb Syndrome |
|
Bradykinesia, Lethargy, Apathy |
ORPHA:306674 |
| Cockayne Syndrome |
|
Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Retinal dystrophy, Optic... |
ORPHA:191 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia |
OMIM:618775 |
| Neurofibromatosis Type 1 |
|
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M... |
ORPHA:636 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Hypotension |
ORPHA:293978 |
| Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
| Otopalatodigital Syndrome, Type Ii |
|
Dilatation of the sinus of Valsalva, Hydronephrosis, Hypospadias |
OMIM:304120 |
| Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea, Hypertrichosis |
ORPHA:2330 |
| 17Q11 Microdeletion Syndrome |
|
Telangiectasia of the skin, Abnormal internal carotid artery morphology, Renovascular hypertensio... |
ORPHA:97685 |
| Chand Syndrome |
|
Atelectasis, Curly hair |
ORPHA:1401 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Right ventricular outlet tract obstruction, Renal duplication, Hydronephrosis, Micropenis |
OMIM:180700 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Hypospadias, Patent ductus arteriosus, Renal hypoplasia, Pulmonic stenosis,... |
OMIM:261540 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Pigmentary retinopathy |
OMIM:614230 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hypovolemia, Hypotension |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hypovolemia, Hypotension |
ORPHA:289548 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Hypothermia |
OMIM:618329 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Horseshoe kidney, Telangiectasia, Bifid ureter, Hydronephrosis |
OMIM:305600 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2636 |
| Carney Complex |
|
Cardiac myxoma, Congestive heart failure, Hypertension, Ductal carcinoma in situ, Hirsutism |
ORPHA:1359 |
| Blomstrand Lethal Chondrodysplasia |
|
Coarctation of aorta |
ORPHA:50945 |
| Glycerol Kinase Deficiency |
|
Lethargy |
OMIM:307030 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Phimosis, Patent ductus arteriosus, Coarctation of aorta, Mitral regurgitation, Pulmonary arteria... |
ORPHA:363611 |
| Idiopathic Camptocormia |
|
Myositis, Myotonia, Osteoarthritis, Abnormal inflammatory response, Myelitis |
ORPHA:1320 |
| Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
| Cartilage-Hair Hypoplasia |
|
Abnormality of retinal pigmentation |
ORPHA:175 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Renal hypoplasia, Renal cyst, Coarctation of aorta, Hypertension, Polycystic kidney dysplasia, Mi... |
OMIM:210710 |
| Noonan Syndrome 1 |
|
Hypospadias, Patent ductus arteriosus, Synovitis, Coarctation of aorta, Pulmonic stenosis, Hypert... |
OMIM:163950 |
| Addison Disease |
|
Orthostatic hypotension, Hypotension |
ORPHA:85138 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of retinal pigmentation |
ORPHA:466768 |
| Ulbright-Hodes Syndrome |
|
Respiratory distress, Pneumothorax, Respiratory failure, Pulmonary hypoplasia, Oligohydramnios |
ORPHA:3404 |
| Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
| Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Apnea, Oligohydramnios |
ORPHA:3206 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypothermia |
ORPHA:230 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Pigmentary retinopathy, Iris coloboma |
OMIM:309801 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Synophrys, Nasal flaring |
ORPHA:466943 |
| Parkes Weber Syndrome |
|
Bounding pulse, High-output congestive heart failure, Subarachnoid hemorrhage |
ORPHA:90307 |
| Myhre Syndrome |
|
Hypertension, Patent ductus arteriosus, Aortic valve stenosis, Coarctation of aorta |
OMIM:139210 |
| Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:506358 |
| Tbck-Related Intellectual Disability Syndrome |
|
Hypothermia |
ORPHA:488632 |
| Cockayne Syndrome A |
|
Retinal atrophy, Retinal pigment epithelial mottling, Optic atrophy, Abnormality of skin pigmenta... |
OMIM:216400 |
| Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Pigmentary retinopathy |
ORPHA:404454 |
| Cockayne Syndrome B |
|
Abnormality of skin pigmentation, Pigmentary retinopathy, Hypoplasia of the iris, Optic atrophy |
OMIM:133540 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Patent ductus arteriosus, Coarctation of aorta |
OMIM:619480 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Hydronephrosis, Recurrent pneumonia, Eczema |
OMIM:620330 |
| Catel-Manzke Syndrome |
|
Overriding aorta, Coarctation of aorta |
OMIM:616145 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis |
ORPHA:93271 |
| Nicolaides-Baraitser Syndrome |
|
Eczema, Coarctation of aorta |
OMIM:601358 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Secundum atrial septal defect, Subarterial ventricular septal defect, Respiratory distress, Recur... |
ORPHA:99646 |
| Mullegama-Klein-Martinez Syndrome |
|
Coarctation of aorta |
OMIM:301022 |
| Proteus Syndrome |
|
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Retina... |
ORPHA:744 |
| Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
| Ramon Syndrome |
|
Optic disc pallor, Pigmentary retinopathy |
OMIM:266270 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Hypothermia |
ORPHA:99027 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Coarctati... |
OMIM:164210 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation |
OMIM:272460 |
| Pineoblastoma |
|
Lethargy |
ORPHA:251909 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Pigmentary retinopathy, Optic atrophy, Hyperpigmentation of the skin, Retinal degeneration |
OMIM:234200 |
| Cystinosis, Nephropathic |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Retinal pigment epithelial mottling, Pigm... |
OMIM:219800 |
| Infantile Nephropathic Cystinosis |
|
Pigmentary retinopathy |
ORPHA:411629 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Shock, Hypovolemia, Hypotension |
ORPHA:90794 |
| Pallister-Hall Syndrome |
|
Hypospadias, Unilateral renal agenesis, Ectopic kidney, Patent ductus arteriosus, Coarctation of ... |
ORPHA:672 |
| Genitopatellar Syndrome |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:606170 |
| Hydrolethalus Syndrome 1 |
|
Hypospadias, Hydronephrosis |
OMIM:236680 |
| Non-Acquired Panhypopituitarism |
|
Hypotension |
ORPHA:90695 |
| Pearson Syndrome |
|
Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of the skin |
ORPHA:699 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Hypothermia |
ORPHA:293987 |
| Menkes Disease |
|
Hypothermia |
ORPHA:565 |
| Bartter Syndrome, Type 1, Antenatal |
|
Low-to-normal blood pressure |
OMIM:601678 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension |
ORPHA:95494 |
| Bartter Syndrome, Type 2, Antenatal |
|
Low-to-normal blood pressure |
OMIM:241200 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Pigmentary retinopathy |
OMIM:606721 |
| Pallister-Killian Syndrome |
|
Hypospadias, Patent ductus arteriosus, Renal cyst, Coarctation of aorta, Aortic valve stenosis, H... |
OMIM:601803 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Hypothermia |
ORPHA:642 |
