Urofacial Syndrome 2 |
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Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... |
OMIM:615112 |
Atresia Of Urethra |
|
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... |
ORPHA:105 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis |
OMIM:619365 |
Adrenomyodystrophy |
|
Abnormality of the urinary system, Myopathy, Megacystis |
ORPHA:977 |
Nephrosialidosis |
|
Ascites, Bone-marrow foam cells, Pericardial effusion |
OMIM:256150 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
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Hydronephrosis, Hydroureter, Megacystis |
OMIM:619431 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
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Polyuria, Megacystis |
OMIM:125800 |
Lymphatic Malformation 8 |
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Generalized edema, Pleural effusion, Nonimmune hydrops fetalis, Stillbirth, Polyhydramnios, Peric... |
OMIM:618773 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
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Polyuria, Megacystis |
OMIM:304800 |
Congenital Heart Block |
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Intrauterine growth retardation, Endocardial fibroelastosis, Pleural effusion, Oligohydramnios, P... |
ORPHA:60041 |
Familial Visceral Myopathy |
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Hydroureter, Megacystis, Camptodactyly of finger, Vesicoureteral reflux, Aplasia/Hypoplasia of th... |
ORPHA:2604 |
Combined Oxidative Phosphorylation Deficiency 10 |
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Ascites, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Pleural e... |
OMIM:614702 |
Primary Effusion Lymphoma |
|
Pericardial effusion, Pleural effusion |
ORPHA:48686 |
Choanal Atresia And Lymphedema |
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Pericardial effusion, Lymphedema |
OMIM:613611 |
Megabladder, Congenital |
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Fetal megacystis, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogenic kidneys |
OMIM:618719 |
Visceral Myopathy 2 |
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Megacystis |
OMIM:619350 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
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Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Congenital Pulmonary Lymphangiectasia |
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Ascites, Pleural effusion, Hydrops fetalis, Growth delay, Chylopericardium, Pulmonic stenosis |
ORPHA:2414 |
Cantu Syndrome |
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Congenital hypertrophy of left ventricle, Lymphedema, Umbilical hernia, Cardiomegaly, Bicuspid ao... |
OMIM:239850 |
Visceral Myopathy 1 |
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Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis |
OMIM:155310 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
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Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Fetal megacystis |
OMIM:619351 |
Hydrops Fetalis |
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Generalized edema, Lymphedema, Ascites, Abnormal heart morphology, Pleural effusion, Nonimmune hy... |
ORPHA:1041 |
Lymphatic Malformation 7 |
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Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
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Hydroureter, Fetal megacystis |
OMIM:249210 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
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Multiple muscular ventricular septal defects, Polyhydramnios, Aortic aneurysm, Limb hypertonia, A... |
OMIM:620070 |
Meckel Syndrome, Type 8 |
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Pericardial effusion, Occipital encephalocele, Encephalocele |
OMIM:613885 |
Brain-Lung-Thyroid Syndrome |
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Vesicoureteral reflux, Hypospadias, Megacystis |
ORPHA:209905 |
Cardiomyopathy, Familial Hypertrophic, 4 |
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Ventricular hypertrophy, Ascites, Hypertrophic cardiomyopathy, Muscular ventricular septal defect... |
OMIM:115197 |
Craniofaciofrontodigital Syndrome |
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Aortic valve stenosis, Lower eyelid edema, Abnormal heart valve morphology, Polyhydramnios, Ventr... |
ORPHA:363705 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
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Duplicated collecting system, Hydroureter, Ureterocele, Megacystis, Renal agenesis, Vesicouretera... |
OMIM:604292 |
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes |
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Pericardial effusion |
OMIM:614684 |
Congenital Tricuspid Valve Dysplasia |
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Intrauterine growth retardation, Abnormal tricuspid valve annulus morphology, Patent foramen oval... |
ORPHA:555874 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
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Hydronephrosis, Fetal megacystis, Hydroureter, Neonatal death |
OMIM:619362 |
Congenital Disorder Of Glycosylation, Type Il |
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Ascites, Hydrops fetalis, Pericardial effusion, Atrial septal defect |
OMIM:608776 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
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Joint contracture of the hand, Umbilical hernia, Lymphedema, Mild postnatal growth retardation, P... |
OMIM:235510 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
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Pericardial effusion, Pleural effusion |
ORPHA:411703 |
Hypocomplementemic Urticarial Vasculitis |
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Angioedema, Ascites, Abnormal heart valve morphology, Pleural effusion, Pericardial effusion |
ORPHA:36412 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Restrictive cardiomyopathy, Endocardial fibroelastosis, Nonimmune hydrops fetalis, Pericardial ef... |
OMIM:619313 |
Congenital Enterovirus Infection |
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Fetal ascites, Cardiomyopathy, Pleural effusion, Polyhydramnios, Myocarditis, Hydrops fetalis, Pe... |
ORPHA:292 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Macroglossia, Anasarca, Cardiomyopathy, Biventricular hypertrophy, Ascites, Hypertrophic cardiomy... |
OMIM:261740 |
Primary Intestinal Lymphangiectasia |
|
Generalized edema, Ascites, Pleural effusion, Pericardial effusion, Growth delay, Edema |
ORPHA:90362 |
Patent Urachus |
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Recurrent urinary tract infections, Cystocele, Patent urachus, Congenital posterior urethral valv... |
ORPHA:431341 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Pericardial effusion, Skeletal muscle atrophy, Cardiomyopathy |
OMIM:620089 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Pericardial effusion, Ventricular s... |
OMIM:618775 |
Aicardi-Goutieres Syndrome 9 |
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Lower limb hypertonia, Ascites, Intrauterine growth retardation, Left ventricular hypertrophy, Pe... |
OMIM:619487 |
Cardiac-Urogenital Syndrome |
|
Hypoplastic left heart, Coronary sinus enlargement, Interrupted aortic arch, Biventricular hypert... |
OMIM:618280 |
Alkuraya-Kucinskas Syndrome |
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Pleural effusion, Camptodactyly, Pericardial effusion, Arthrogryposis multiplex congenita, Edema |
OMIM:617822 |
Drug-Induced Lupus Erythematosus |
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Pericardial effusion, Pericarditis |
ORPHA:231111 |
Pediatric Systemic Lupus Erythematosus |
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Ascites, Pleural effusion, Myositis, Pericardial effusion, Edema |
ORPHA:93552 |
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
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Dilated cardiomyopathy, Myofiber disarray, Patent foramen ovale, Ventricular septal defect, Bicus... |
OMIM:620519 |
Cardiomyopathy, Dilated, 1A |
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Pericardial effusion, Dilated cardiomyopathy |
OMIM:115200 |
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
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Pericardial effusion, Muscular dystrophy, Dilated cardiomyopathy, Abnormal myocardium morphology |
ORPHA:300751 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Dilated cardiomyopathy, Exercise-induced rhabdomyolysis, Patent foramen ovale, Ventricular septal... |
ORPHA:26793 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Peripheral edema, Pleural effusion |
ORPHA:79126 |
Alpha-Thalassemia |
|
Pericardial effusion, Generalized edema, Hydrops fetalis, Pleural effusion |
ORPHA:846 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cardiomyopathy, Nonimmune hydrops fetalis, Pericardial effusion, Flexion contracture, Edema, Peri... |
OMIM:212065 |
Lymphoproliferative Syndrome 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:613011 |
Myhre Syndrome |
|
Aortic valve stenosis, Skeletal muscle hypertrophy, Intrauterine growth retardation, Ventricular ... |
OMIM:139210 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Aortic root aneurysm, Umbilical hernia, Mitral valve prolapse, Carotid artery stenosis, Pericardi... |
ORPHA:536532 |
Aymé-Gripp Syndrome |
|
Postnatal growth retardation, Congenital diaphragmatic hernia, Camptodactyly, Short stature, Peri... |
ORPHA:1272 |
Poems Syndrome |
|
Ascites, Pericardial effusion, Pleural effusion, Edema |
ORPHA:2905 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Anasarca, Ascites, Pleural effusion, Polyhydramnios, Pericardial effusion |
OMIM:618183 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Pericardial effusion, Pleural effusion, Pedal edema |
ORPHA:199241 |
Alg9-Cdg |
|
Rhizomelia, Hypoplasia of the musculature, Abnormal heart morphology, Oligohydramnios, Ventricula... |
ORPHA:79328 |
Gaucher Disease Type 3 |
|
Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Abnormal... |
ORPHA:77261 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Bladder diverticulum |
OMIM:617821 |
Q Fever |
|
Abnormal heart valve morphology, Pleural effusion, Myocarditis, Pericardial effusion, Endocarditi... |
ORPHA:781 |
Hennekam Syndrome |
|
Chylothorax, Lymphedema, Ascites, Camptodactyly of finger, Mild postnatal growth retardation, Per... |
ORPHA:2136 |
Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias |
OMIM:600057 |
Duplication Of Urethra |
|
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... |
ORPHA:237 |
Aicardi-Goutieres Syndrome 7 |
|
Hypertrophic cardiomyopathy, Intrauterine growth retardation, Oligohydramnios, Limb hypertonia, P... |
OMIM:615846 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Multiple bladder diverticula |
ORPHA:2728 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Pleural effusion |
ORPHA:464329 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Bladder diverticulum, Congenital diaphragmatic hernia |
OMIM:219100 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Bladder diverticulum |
ORPHA:2976 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Aortic dissection, Medial calcification of large arteries, Ascites, Arte... |
ORPHA:51608 |
Chédiak-Higashi Syndrome |
|
Pericardial effusion, Pleural effusion, Edema |
ORPHA:167 |
Acro-Renal-Ocular Syndrome |
|
Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral reflux, Renal hypoplasia/aplasia, B... |
ORPHA:959 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Bladder diverticulum, Type 1 muscle fiber predominance, Skeletal muscle atrophy, Myopathy |
OMIM:614557 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pulmonary edema, Dilated cardiomyopathy, Pericardial effusion |
ORPHA:73224 |
Lymphangioleiomyomatosis |
|
Ascites, Chylothorax, Chylopericardium, Lymphedema |
ORPHA:538 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Multiple bladder diverticula, Urethral diverticulum, Recurrent urinary tract infections, Pyelonep... |
ORPHA:90349 |
Gitelman Syndrome |
|
Pericardial effusion, Delayed puberty, Rhabdomyolysis |
ORPHA:358 |
Tsh-Secreting Pituitary Adenoma |
|
Pericardial effusion, Delayed puberty |
ORPHA:91347 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Hydroureter, Ureterocele, Renal agenesis, Vesicoureteral reflux, Hy... |
OMIM:129900 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Decreased urinary lysyl-pyridinoline-hydroxylysyl-pyridinoline ratio, Bladder diverticulum, Incre... |
OMIM:225400 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Morgagni diaphragmatic hernia, Multiple bladder diverticula, Posterolateral diaphragmatic hernia,... |
OMIM:613177 |
Occipital Horn Syndrome |
|
Hydronephrosis, Ureteral obstruction, Bladder diverticulum |
OMIM:304150 |
Menkes Disease |
|
Bladder diverticulum, Aplasia/Hypoplasia of the abdominal wall musculature |
ORPHA:565 |
Crimean-Congo Hemorrhagic Fever |
|
Ascites, Pericardial effusion, Myocarditis |
ORPHA:99827 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Bladder diverticulum, Skeletal muscle atrophy, Myopathy |
ORPHA:536545 |
Sarcoidosis, Susceptibility To, 1 |
|
Pericardial effusion, Pleural effusion |
OMIM:181000 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hydroureter, Dilatation of the renal pelvis, Diastasis recti, Dilatation of the bladder, Neonatal... |
OMIM:265380 |
Williams Syndrome |
|
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Renal insufficiency, Vesi... |
ORPHA:904 |
Occipital Horn Syndrome |
|
Bladder diverticulum, Recurrent urinary tract infections |
ORPHA:198 |
Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Pyelonephritis, Bladder diverticulum |
ORPHA:90348 |
Williams-Beuren Syndrome |
|
Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Flexion contracture, Rena... |
OMIM:194050 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Patent urachus, Skeletal muscle atrophy |
OMIM:618252 |
Classical Ehlers-Danlos Syndrome |
|
Bladder diverticulum |
ORPHA:287 |
Pmm2-Cdg |
|
Anasarca, Lymphedema, Hypertrophic cardiomyopathy, Multiple joint contractures, Pericardial effus... |
ORPHA:79318 |
Vascular Ehlers-Danlos Syndrome |
|
Cystocele, Bladder diverticulum, Aplasia/Hypoplasia of the abdominal wall musculature, Renovascul... |
ORPHA:286 |