Polycystic Kidney Disease 7 |
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Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... |
OMIM:620056 |
Glomerulopathy With Fibronectin Deposits 2 |
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Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Intracranial Hypertension, Idiopathic |
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Hypertension |
OMIM:243200 |
Abdominal Obesity-Metabolic Syndrome 1 |
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Hypertension |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
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Hypertension |
OMIM:605572 |
Glomerulopathy With Fibronectin Deposits 1 |
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Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Cardiomyopathy, Dilated, 1I |
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Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... |
OMIM:604765 |
Familial Cylindromatosis |
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Telangiectasia of the skin |
ORPHA:211 |
Focal Segmental Glomerulosclerosis 2 |
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Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Iga Nephropathy, Susceptibility To, 3 |
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Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... |
OMIM:616818 |
Moyamoya Disease 1 |
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Inflammatory arteriopathy, Telangiectasia |
OMIM:252350 |
Iga Nephropathy, Susceptibility To, 2 |
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Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:613944 |
Nail-Patella-Like Renal Disease |
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Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria |
ORPHA:2613 |
Renal Failure, Progressive, With Hypertension |
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Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat... |
OMIM:161900 |
Polycystic Kidney Disease 5 |
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Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... |
OMIM:617610 |
Primary Membranoproliferative Glomerulonephritis |
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Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:54370 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
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Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... |
OMIM:618061 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
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Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension |
OMIM:607832 |
Focal Segmental Glomerulosclerosis 5 |
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Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... |
OMIM:613237 |
Capillary Malformation-Arteriovenous Malformation 2 |
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Telangiectasia |
OMIM:618196 |
Telangiectasia, Hereditary Benign |
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Diffuse telangiectasia |
OMIM:187260 |
Iga Nephropathy, Susceptibility To, 1 |
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Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... |
OMIM:161950 |
Orthostatic Hypotension 2 |
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Orthostatic hypotension, Decreased glomerular filtration rate |
OMIM:618182 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
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Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati... |
OMIM:162000 |
Pheochromocytoma/Paraganglioma Syndrome 6 |
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Hypertension |
OMIM:618464 |
Fibronectin Glomerulopathy |
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Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... |
ORPHA:84090 |
Amyloidosis, Familial Visceral |
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Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Nephrotic syndrome, Hypertension, Nephropathy |
OMIM:105200 |
Attrv30M Amyloidosis |
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Cardiomegaly, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phy... |
ORPHA:85447 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Cardiomyopathy, Familial Hypertrophic, 27 |
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Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... |
OMIM:618052 |
Arterial Calcification, Generalized, Of Infancy, 2 |
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Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... |
OMIM:614473 |
Adenine Phosphoribosyltransferase Deficiency |
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Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... |
ORPHA:976 |
Denys-Drash Syndrome |
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Proteinuria, Nephrotic syndrome, Hypertension, Nephropathy, Nephroblastoma |
ORPHA:220 |
Autosomal Dominant Polycystic Kidney Disease |
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Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Hyperaldosteronism, Familial, Type Iv |
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Hypertension |
OMIM:617027 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
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Spontaneous, recurrent epistaxis, Portal hypertension, Telangiectasia |
OMIM:615506 |
Atrial Fibrillation, Familial, 14 |
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ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval |
OMIM:615378 |
Hereditary Renal Hypouricemia |
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Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... |
ORPHA:94088 |
Liddle Syndrome |
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Renal insufficiency, Hypertension, Cerebral ischemia, Nephropathy, Arrhythmia |
ORPHA:526 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
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Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
Oligomeganephronia |
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Renal insufficiency, Proteinuria, Unilateral renal agenesis, Secundum atrial septal defect, Abnor... |
ORPHA:2260 |
Renal Hypoplasia, Bilateral |
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Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... |
ORPHA:97362 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Gastrointestinal hemorrhage, Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial a... |
ORPHA:85450 |
Fixed Subaortic Stenosis |
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Aortic regurgitation, Paroxysmal atrial fibrillation, Bicuspid aortic valve, Ventricular septal d... |
ORPHA:3092 |
Renal Hypoplasia |
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Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Lcat Deficiency |
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Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... |
ORPHA:650 |
Coronary Arterial Fistula |
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Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... |
ORPHA:2041 |
Fanconi Renotubular Syndrome 2 |
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Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Attrv122I Amyloidosis |
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Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... |
ORPHA:85451 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Ventricular hypertrophy, Hepatomegaly, Transient ischemic attack, Cardiac arrest, First degree at... |
OMIM:115197 |
Alport Syndrome 2, Autosomal Recessive |
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Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Cryoglobulinemia, Familial Mixed |
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Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Abnormal renal physiology |
OMIM:123550 |
Hyperaldosteronism, Familial, Type Ii |
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Hypertension |
OMIM:605635 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
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Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney... |
OMIM:173900 |
Isolated Right Ventricular Hypoplasia |
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Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Nephronophthisis 1 |
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Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... |
OMIM:256100 |
Pauci-Immune Glomerulonephritis |
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Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
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Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
Ochoa Syndrome |
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Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Nephronophthisis 2 |
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Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
Congenitally Uncorrected Transposition Of The Great Arteries |
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Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ab... |
ORPHA:860 |
Alagille Syndrome 2 |
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Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Posterior Urethral Valve |
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Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy |
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Hypertension |
OMIM:605115 |
Renal Dysplasia |
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Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Familial Atrial Myxoma |
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Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Congestive heart fa... |
ORPHA:615 |
Primary Hyperoxaluria Type 1 |
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Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... |
ORPHA:93598 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
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Congestive heart failure, Cardiomegaly |
OMIM:300886 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Hypert... |
OMIM:612925 |
Hemorrhagic Fever-Renal Syndrome |
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Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... |
ORPHA:340 |
Complete Atrioventricular Septal Defect |
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Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Glycogen Storage Disease Ic |
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Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Hematuria, Focal segmental glo... |
OMIM:232240 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612924 |
Cirrhotic Cardiomyopathy |
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Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... |
ORPHA:57777 |
Hypocalcemia, Autosomal Dominant 1 |
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Nephrocalcinosis, Hypercalciuria, Nephrolithiasis, Decreased glomerular filtration rate |
OMIM:601198 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Hypertension, Acute kidney injury |
OMIM:612926 |
Alport Syndrome 3A, Autosomal Dominant |
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Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Glycogen Storage Disease Ia |
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Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Hypertension, Dec... |
OMIM:232200 |
Pulmonary Hypertension, Primary, 1 |
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Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... |
OMIM:178600 |
Pseudo-Torch Syndrome 3 |
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Proteinuria, Cerebral hemorrhage, Cardiomegaly, Hypertension, Acute kidney injury |
OMIM:618886 |
Glycogen Storage Disease Ib |
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Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyp... |
OMIM:232220 |
Naxos Disease |
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Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... |
OMIM:601214 |
Danon Disease |
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Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... |
OMIM:300257 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... |
ORPHA:1677 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
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Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... |
OMIM:613090 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
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Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... |
ORPHA:488627 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
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Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Aorta Coarctation |
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Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... |
ORPHA:1457 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... |
OMIM:261740 |
Tropical Endomyocardial Fibrosis |
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Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... |
ORPHA:75565 |
Distal Renal Tubular Acidosis |
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Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... |
ORPHA:18 |
Congenital Tricuspid Valve Dysplasia |
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Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Arterial Calcification, Generalized, Of Infancy, 1 |
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Myocardial infarction, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Hypertensi... |
OMIM:208000 |
Sickle Cell Disease |
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Hepatomegaly, Renal insufficiency, Cardiomegaly, Splenomegaly, Hematuria, Hypertension |
OMIM:603903 |
Alkaptonuria |
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Mitral valve calcification, Aortic valve calcification, Elevated urinary homogentisic acid, Nephr... |
OMIM:203500 |
Lysinuric Protein Intolerance |
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Hepatomegaly, Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Abnormal heart morpholo... |
ORPHA:470 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
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Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Fingerpad telangiectas... |
OMIM:600376 |
Double Outlet Left Ventricle |
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Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Renal neutrophilic tubulitis, Renal interstitial edema, Sterile pyuria, Renal tubular epithelial ... |
ORPHA:91500 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly |
ORPHA:79280 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... |
OMIM:614748 |
Congenital Total Pulmonary Venous Return Anomaly |
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Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |