Capillary Malformation-Arteriovenous Malformation |
|
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... |
ORPHA:137667 |
Parkes Weber Syndrome |
|
Arteriovenous malformation, High-output congestive heart failure, Peripheral arteriovenous fistul... |
ORPHA:90307 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
High-output congestive heart failure, Cerebral hemorrhage, Spinal arteriovenous malformation, Dil... |
OMIM:610655 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Melena, Telangiectasia of the skin, Spinal arteriovenous malformation, Hemothorax, Pulmonary hemo... |
OMIM:187300 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Melena, Spinal arteriovenous malformation, Subarachnoid hemorrhage, Hematochezia, Lip telangiecta... |
OMIM:600376 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Stroke, Hepatic arteriovenous malformation, Mitral regurgitation, Pulmonary arteriovenous malform... |
OMIM:175050 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Arteriovenous malformation, Hepatic arteriovenous malformation, Mucosal... |
ORPHA:2929 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Phace Syndrome |
|
Abnormal carotid artery morphology, Coarctation of aorta, Tetralogy of Fallot, Ectopic thyroid, H... |
ORPHA:42775 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Predominantly lower limb lymphedema, Facial edema, Genital edema, Abnormal lymphatic vessel morph... |
ORPHA:568051 |
Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Hepatomegaly, Hydrops fetalis, Pulmonary embolism, Hematuria, P... |
ORPHA:90308 |
Chilblain Lupus 2 |
|
Edema, Vasculitis |
OMIM:614415 |
Ring Chromosome 8 Syndrome |
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Polyhydramnios, Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Prune Belly Syndrome |
|
Urogenital sinus anomaly, Abnormality of the ureter, Multicystic kidney dysplasia, Recurrent urin... |
ORPHA:2970 |
Milroy Disease |
|
Hydrocele testis, Predominantly lower limb lymphedema, Abnormal venous morphology, Lymphedema, Pe... |
ORPHA:79452 |
Familial Multiple Nevi Flammei |
|
Arteriovenous malformation, Intracranial hemorrhage, Pulmonary embolism, Arrhythmia, Edema, Venou... |
ORPHA:624 |
Spinal Arteriovenous Metameric Syndrome |
|
Urinary bladder sphincter dysfunction, Arteriovenous malformation, Spinal arteriovenous malformat... |
ORPHA:53721 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Lymphedema, Abnormal cerebral vascular morphology |
OMIM:152900 |
Thymic Aplasia With Fetal Death |
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Abnormality of the endocrine system, Renal agenesis, Ureteral agenesis, Stillbirth, Truncus arter... |
OMIM:274210 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Enlarged kidn... |
OMIM:208540 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hypoplasia of penis, Splenomegaly, Hypospadias, Abnormality of the uret... |
ORPHA:1046 |
Transaldolase Deficiency |
|
Cirrhosis, Hepatosplenomegaly, Hydrops fetalis, Abnormality of the kidney, Coarctation of aorta, ... |
ORPHA:101028 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Partial anomalous pulmonary venous return, Myocardial infarction, Cerebral arteriovenous malforma... |
OMIM:150230 |
Thoracic Outlet Syndrome |
|
Varicose veins, Edema |
ORPHA:97330 |
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome |
|
Lymphedema, Abnormal cerebral vascular morphology |
ORPHA:86914 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Supraventricular arrhythmia, Stroke, Raynaud phenomenon, Nephropathy, Retinal hemorrhage, Hematur... |
OMIM:611773 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the upper urinary tract, Abnormality of the ureter |
ORPHA:3266 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter, Abnormality of the spleen |
ORPHA:2487 |
Angioosteohypotrophic Syndrome |
|
Telangiectasia of the skin, Prominent superficial veins, Venous malformation, Edema |
ORPHA:75508 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria,... |
OMIM:105200 |
Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Dehydration,... |
ORPHA:93101 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Stroke, Micronodular cirrhosis, Vasculitis in the skin, Raynaud phenomenon, Macular edema, Retina... |
OMIM:192315 |
Lymphatic Malformation 7 |
|
Facial edema, Pulmonary edema, Nonimmune hydrops fetalis, Lymphedema, Edema, Varicose veins, Peri... |
OMIM:617300 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Pulmonary embolism, Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
Thymic Neuroendocrine Tumor |
|
Prominent veins on trunk, Pituitary null cell adenoma, Pituitary adenoma, Increased circulating c... |
ORPHA:97289 |
Vein Of Galen Aneurysmal Malformation |
|
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:1053 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Subdural hemorrhage, Cerebral hemorrhage, Intraventricular hemorrhage, Subarachnoid hemorrhage, V... |
ORPHA:284388 |
Aortic Aneurysm, Familial Thoracic 4 |
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Abnormal left ventricular function, Posterior cerebral artery stenosis, Stroke, Thoracic aortic a... |
OMIM:132900 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Peripheral arterial stenosis, Pedal edema, Patent ductus arteriosus, Sinus bradycardia, Varicose ... |
OMIM:126320 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Abnormality of the endocrine system, Renal agenesis, Ureteral dysgenesis, Ureteral agenesis, Olig... |
OMIM:274265 |
Kaposi Sarcoma |
|
Lymphedema, Abnormality of the spleen, Venous insufficiency, Abnormality of the liver |
ORPHA:33276 |
Snakebite Envenomation |
|
Stroke, Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cerebral ischemia, ... |
ORPHA:449285 |
Hereditary Hemorrhagic Telangiectasia |
|
Cholelithiasis, Telangiectasia of the skin, Arteriovenous malformation, Hepatic failure, Subarach... |
ORPHA:774 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Abnormality of the upper urinary tract, Hydroureter, Polyhydramnios, Patent ... |
ORPHA:2547 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:743 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Abnormality of the hepatic vasculature, Hepatomegaly, Complete heart block with narrow QRS comple... |
ORPHA:1677 |
Meige Disease |
|
Predominantly lower limb lymphedema, Facial edema, Edema of the dorsum of hands, Laryngeal edema,... |
ORPHA:90186 |
Thymic Carcinoma |
|
Abnormal vena cava morphology, Palpebral edema, Neoplasm of the thymus, Edema |
ORPHA:99868 |
Enlarged Parietal Foramina |
|
Myelomeningocele, Abnormal cerebral vein morphology, Occipital encephalocele, Venous malformation |
ORPHA:60015 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous ori... |
OMIM:618845 |
Autosomal Dominant Polycystic Kidney Disease |
|
Nephrolithiasis, Pituitary growth hormone cell adenoma, Chronic kidney disease, Decreased glomeru... |
ORPHA:730 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Arteriovenous malformation, Ovarian neoplasm, Neoplasm of the thyroid gland, Venous insufficiency... |
ORPHA:137608 |
Diabetic Embryopathy |
|
Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Tetralogy of Fallot, Abnormality of t... |
ORPHA:1926 |
Lymphatic Malformation 6 |
|
Hydrocele testis, Facial edema, Chylothorax, Genital edema, Splenomegaly, Nonimmune hydrops fetal... |
OMIM:616843 |
Mucopolysaccharidosis Type 7 |
|
Arteriovenous malformation, Splenomegaly, Hydrops fetalis, Hepatitis, Lymphedema, Mucopolysacchar... |
ORPHA:584 |
Dural Sinus Malformation |
|
Stroke, Subdural hemorrhage, Cerebellar hemorrhage, Cerebral hemorrhage, Abnormal facial vein mor... |
ORPHA:97339 |
Proteus Syndrome |
|
Venous malformation, Splenomegaly |
OMIM:176920 |
Von Willebrand Disease |
|
Venous insufficiency |
ORPHA:903 |
Arterial Dissection-Lentiginosis Syndrome |
|
Arteriovenous malformation, Arterial dissection |
ORPHA:1682 |
Capillary Malformation-Arteriovenous Malformation 1 |
|
Arteriovenous malformation, Arteriovenous fistula |
OMIM:608354 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia, Hepatomegaly, Hepatic failure, Cirrhosis, Renal cyst, Hepatic fibr... |
OMIM:602579 |
Prune Belly Syndrome |
|
Hydroureter, Xerostomia, Urethral valve, Patent ductus arteriosus, Hydronephrosis, Congenital pos... |
OMIM:100100 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Lymphedema, Varicose veins, Venous malformation |
OMIM:613089 |
Dextrocardia |
|
Congenital malformation of the great arteries, Abnormality of the ureter, Abnormality of the sple... |
ORPHA:1666 |
Wyburn-Mason Syndrome |
|
Arteriovenous malformation, Peripheral arteriovenous fistula, Cerebral hemorrhage, Subarachnoid h... |
ORPHA:53719 |
Trisomy 13 |
|
Abnormality of the ureter, Hydrops fetalis, Multiple renal cysts, Patent ductus arteriosus, Hydro... |
ORPHA:3378 |
Alagille Syndrome |
|
Telangiectasia of the skin, Peripheral pulmonary artery stenosis, Nephrotic syndrome, Hepatomegal... |
ORPHA:52 |
Cardiac Valvular Dysplasia 1 |
|
Mitral stenosis, Tricuspid regurgitation, Hydroureter, Hydrops fetalis, Urethral diverticulum, Ar... |
OMIM:212093 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Anomalous pulmonary venous return, Hypospadias, Abnormality of the ureter, Spina bifida occulta, ... |
ORPHA:2311 |
Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Hyp... |
ORPHA:93108 |
Pulmonary Arteriovenous Malformation |
|
Telangiectasia, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Palpitations, Heart murmur, My... |
ORPHA:2038 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Nephrolithiasis, Hydroureter, Vesicoureteral reflux, Vascular dilatation |
OMIM:617219 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Umbilical hernia |
ORPHA:1035 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Nephroblastoma, Spinal dysraphism, Renal hypoplasia, Venous malformation |
OMIM:612918 |
Caudal Regression Syndrome |
|
Renal agenesis, Abnormality of the ureter, Maternal diabetes, Arrhinencephaly, Ureteral duplicati... |
ORPHA:3027 |
Erythrocytosis, Familial, 2 |
|
Elevated circulating erythropoietin concentration, Stroke, Cerebral hemorrhage, Hypotension, Pulm... |
OMIM:263400 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis, Cryptorchidism, Varicose veins |
OMIM:314300 |
Foix-Alajouanine Syndrome |
|
Urinary incontinence, Myelopathy, Arteriovenous fistula, Functional abnormality of the bladder, U... |
ORPHA:79093 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Recurrent urinary tract infections, Arrhythmia, Renal duplic... |
ORPHA:33001 |
Adams-Oliver Syndrome |
|
Arteriovenous malformation, Cirrhosis, Tetralogy of Fallot, Pulmonary artery atresia, Congenital ... |
ORPHA:974 |
Vesicoureteral Reflux 3 |
|
Polyhydramnios, Hydroureter, Vesicoureteral reflux, Hydronephrosis |
OMIM:613674 |
Silver-Russell Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Hypospadias, Abnormality of the ureter, He... |
OMIM:180860 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormality of the urinary system, Abnormali... |
ORPHA:1834 |
Igg4-Related Kidney Disease |
|
Abnormal ureter morphology, Pancreatitis, Urethritis, Ureteral obstruction, Hematuria, Renal inte... |
ORPHA:449395 |
Lymphedema-Distichiasis Syndrome |
|
Predominantly lower limb lymphedema, Arrhythmia, Tetralogy of Fallot, Lymphedema, Patent ductus a... |
OMIM:153400 |
Liposarcoma |
|
Abnormality of the kidney, Varicose veins |
ORPHA:69078 |
Aneurysm Of Sinus Of Valsalva |
|
Stroke, Heart murmur, Oliguria, Dilatation of the sinus of Valsalva, Aortic regurgitation, Edema,... |
ORPHA:1054 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hydrocele testis, Telangiectasia of the skin, Nephroblastoma, Ovarian serous cystadenoma, Enlarge... |
ORPHA:276280 |
Currarino Syndrome |
|
Hypospadias, Arteriovenous malformation, Vesicoureteral reflux, Hypoplasia of penis |
ORPHA:1552 |
Blue Rubber Bleb Nevus |
|
Arteriovenous malformation, Intestinal bleeding |
ORPHA:1059 |
Parkes weber syndrome |
|
Arteriovenous fistula |
OMIM:608355 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Abnormality of the ... |
ORPHA:2869 |
Hardikar Syndrome |
|
Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Cholestasis, Bladder exstrophy, Umbilic... |
OMIM:301068 |
Hepatocellular Carcinoma |
|
Abnormality of the hepatic vasculature, Type II diabetes mellitus, Hepatomegaly, Hemobilia, Budd-... |
ORPHA:88673 |
Atresia Of Urethra |
|
Megacystis, Pulmonary insufficiency, Hydroureter, Recurrent urinary tract infections, Bladder fis... |
ORPHA:105 |
Clapo Syndrome |
|
Lymphedema, Varicose veins, Venous malformation |
ORPHA:168984 |
Hereditary Orotic Aciduria |
|
Oroticaciduria, Aminoaciduria, Splenomegaly, Abnormality of the ureter, Patent ductus arteriosus,... |
ORPHA:30 |
Livedoid Vasculopathy |
|
Telangiectasia of the skin, Graves disease, Abnormal capillary morphology, Pedal edema, Diabetes ... |
ORPHA:542643 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Abnormality of the ureter, Renal hypoplasia/aplasia, Umbilical hernia |
ORPHA:1770 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Renal agenesis, Ureteral duplication, Vascular dilatation, Ectopic kidney, Horseshoe kidney |
OMIM:602200 |
Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Chylothorax, Pulmonary lymphangiectasia, Chylous ascites, Palpebral edema, Nonimmun... |
OMIM:265300 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Stroke, Lacunar stroke, Varicose veins, Urinary incontinence |
OMIM:125310 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hydrocele testis, Chronic kidney disease, Facial edema, Macroscopic hematuria, Palpebral edema, P... |
ORPHA:567546 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Anomalous origin of the left ... |
ORPHA:3384 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Exocrine pancreatic insufficiency, Anterior pituitary agenesis, Biliary atresia, Pulmonic stenosi... |
ORPHA:2255 |
Bladder Exstrophy |
|
Hypoplasia of penis, Abnormality of the ureter, Recurrent urinary tract infections, Bladder exstr... |
ORPHA:93930 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Nonimmune hydrops fetalis, Pulmonary artery stenosis, Tetralogy of Fallot, Misalignment of the pu... |
OMIM:265380 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Generalized edema, Hydroureter, Oligohydramnios, Fetal megacystis |
OMIM:249210 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the ureter, Abnormality of the urethra, Renal dysplas... |
ORPHA:2842 |
Renal Nutcracker Syndrome |
|
Vulval varicose vein, Orthostatic hypotension, Tachycardia, Hematuria, Syncope, Microscopic hemat... |
ORPHA:71273 |
Glomuvenous Malformation |
|
Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Venous malformation, Abn... |
ORPHA:83454 |
Meckel Syndrome, Type 1 |
|
Splenomegaly, Renal agenesis, Abnormality of the ureter, Accessory spleen, Anencephaly, Coarctati... |
OMIM:249000 |
Scimitar Syndrome |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Left-to-right shunt, Left super... |
ORPHA:185 |
Trisomy 20P |
|
Abnormality of the kidney, Abnormality of the ureter, Hypospadias, Multiple renal cysts, Abnormal... |
ORPHA:261318 |
17Q12 Microdeletion Syndrome |
|
Renal hypoplasia/aplasia, Ureterocele, Multicystic kidney dysplasia, Pancreatic aplasia, Elevated... |
ORPHA:261265 |
Urban-Rogers-Meyer Syndrome |
|
Cryptorchidism, Abnormality of the ureter, Hypoplasia of penis, Hypogonadism |
ORPHA:3409 |
Aredyld Syndrome |
|
Type II diabetes mellitus, Hepatomegaly, Splenomegaly, Abnormality of the ureter, Type I diabetes... |
ORPHA:1133 |
Angioosteohypertrophic Syndrome |
|
Telangiectasia of the skin, Peripheral arteriovenous fistula, Pulmonary embolism, Hematuria, Lymp... |
ORPHA:2346 |
Phakomatosis Pigmentovascularis |
|
Arteriovenous malformation |
ORPHA:2875 |
Loeys-Dietz Syndrome 6 |
|
Carotid artery dilatation, Thoracic aortic aneurysm, Abdominal aortic aneurysm, Vertebral artery ... |
OMIM:619656 |
Cutis Marmorata Telangiectatica Congenita |
|
Telangiectasia of the skin, Arteriovenous malformation, Multicystic kidney dysplasia, Hypothyroid... |
ORPHA:1556 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Decreased response to growth hormone stimulation test, Splenomegaly, Hypergonadotro... |
OMIM:602782 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Arterial dissection, Abnormal venous morphology, Aortic dissection, Vascular dilatation, Arterial... |
ORPHA:1900 |
Gitelman Syndrome |
|
Graves disease, Type I diabetes mellitus, Proteinuria, Primary hyperaldosteronism, Renal potassiu... |
ORPHA:358 |
Congenital Tracheal Stenosis |
|
Anomalous origin of left pulmonary artery from ascending aorta, Abnormality of the kidney, Abnorm... |
ORPHA:141127 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Klippel-Trenaunay-Weber Syndrome |
|
Lymphedema, Arteriovenous fistula |
OMIM:149000 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bladder polyp, Intestinal bleeding, Ovarian cyst, Abnormality of the ur... |
OMIM:175200 |
Proteus-Like Syndrome |
|
Splenomegaly, Abnormality of the parathyroid gland, Thymus hyperplasia, Polycystic ovaries, Venou... |
ORPHA:2969 |
Non-Acquired Panhypopituitarism |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:90695 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Hydroureter, Multicystic kidney dysplasia, Polyhydramnios, Umbilical hernia, Cryptorchidism, Mega... |
ORPHA:2241 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Arteriovenous malformation, Arrhythmia, Cerebral ischemia |
ORPHA:60040 |
Fanconi Anemia |
|
Arteriovenous malformation, Absent testis, Abnormal carotid artery morphology, Umbilical hernia, ... |
ORPHA:84 |
Menkes Disease |
|
Bladder diverticulum, Abnormal carotid artery morphology, Intracranial hemorrhage, Arterial steno... |
ORPHA:565 |
Exstrophy-Epispadias Complex |
|
Bladder duplication, Cystocele, Abnormality of the kidney, Abnormality of the ureter, Bladder fis... |
ORPHA:322 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Angina pectoris, Arteriovenous malformation, Thyroid carcinoma, Intracranial hemorrhage, Neoplasm... |
ORPHA:109 |
Pelizaeus-Merzbacher Disease |
|
Arteriovenous malformation, Abnormality of the urinary system |
ORPHA:702 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Abnormal aortic arch morphology, Arteriovenous malformation, Overriding aorta |
ORPHA:1110 |
Smith-Magenis Syndrome |
|
Precocious puberty, Renal hypoplasia/aplasia, Abnormality of the ureter, Hypothyroidism, Abnormal... |
ORPHA:819 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2522 |
Heterotaxy, Visceral, 5, Autosomal |
|
Double outlet right ventricle, Atrial reentry tachycardia, Dextrotransposition of the great arter... |
OMIM:270100 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hepatic failure, Hydroureter, Hydronephrosis, Portal hypertension, Oligohydramnios, Megacystis |
OMIM:619431 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic anterior pituitary gland, Abnormal prolactin level, Decreased response to growth hormone ... |
ORPHA:95494 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Biliary atresia, Pulmonic stenosis, Glycosuria, Ureteral duplication, Tetralogy of Fallot, Pancre... |
OMIM:600001 |
Hennekam Syndrome |
|
Arteriovenous malformation, Chylothorax, Splenomegaly, Pulmonary lymphangiectasia, Hydrops fetali... |
ORPHA:2136 |
Cloacal Exstrophy |
|
Myelomeningocele, Renal hypoplasia/aplasia, Hypoplasia of penis, Ureterocele, Hydroureter, Bladde... |
ORPHA:93929 |
Classic Homocystinuria |
|
Arteriovenous malformation, Hepatomegaly, Intracranial hemorrhage, Pulmonary embolism, Cerebral i... |
ORPHA:394 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Abnormality of the ureter, Polyhydramnios, Abnormality of... |
ORPHA:3339 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Neonatal death, Polyhydramnios, Hydronephrosis, Fetal megacystis, Megacystis |
OMIM:619362 |
Schwartz-Jampel Syndrome |
|
Nephrolithiasis, Abnormality of the urinary system, Abnormality of the ureter, Arrhythmia, Polyhy... |
ORPHA:800 |
Schinzel-Giedion Syndrome |
|
Annular pancreas, Nephrolithiasis, Hepatoblastoma, Streak ovary, Micropenis, Hypospadias, Abnorma... |
ORPHA:798 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Aplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidn... |
OMIM:200980 |
Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Pedal edema, Edema, Hydronephros... |
OMIM:236700 |
Ellis Van Creveld Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydr... |
ORPHA:289 |
Superficial Siderosis |
|
Arteriovenous malformation, Abnormal vertebral artery morphology, Subarachnoid hemorrhage, Functi... |
ORPHA:247245 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter, Hypogonadism |
ORPHA:3253 |
Baller-Gerold Syndrome |
|
Abnormality of the ureter, Vesicoureteral reflux, Abnormal localization of kidney, Hydronephrosis |
ORPHA:1225 |
Familial Cerebral Cavernous Malformation |
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Cerebral hemorrhage, Venous malformation |
ORPHA:221061 |
Occipital Horn Syndrome |
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Bladder diverticulum, Recurrent urinary tract infections, Cholestasis, Hepatitis, Vascular dilata... |
ORPHA:198 |
Microphthalmia With Limb Anomalies |
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Cryptorchidism, Horseshoe kidney, Venous insufficiency, Arrhinencephaly |
ORPHA:1106 |
Proteus Syndrome |
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Arteriovenous malformation, Ovarian neoplasm, Splenomegaly, Sudden cardiac death, Neoplasm of the... |
ORPHA:744 |
Hypermobile Ehlers-Danlos Syndrome |
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Cystocele, Arterial dissection, Arrhythmia, Umbilical hernia, Ascending tubular aorta aneurysm, V... |
ORPHA:285 |
Norrie Disease |
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Cryptorchidism, Venous insufficiency, Delayed puberty, Diabetes mellitus |
ORPHA:649 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Cardiac arrest, Hepatomegaly, Premature ventricular contraction, Hypotension, Elevated hepatic tr... |
OMIM:212138 |
Carnitine-Acylcarnitine Translocase Deficiency |
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Hepatomegaly, Hepatic failure, Arrhythmia, Hypotension, Oliguria, Elevated hepatic transaminase, ... |
ORPHA:159 |