Capillary Malformation-Arteriovenous Malformation |
|
Telangiectasia, Cerebral ischemia, Lymphedema, Arteriovenous malformation, Cerebral arteriovenous... |
ORPHA:137667 |
Parkes Weber Syndrome |
|
Abnormality of the urinary system, Vascular dilatation, Bounding pulse, Urinary retention, Arteri... |
ORPHA:90307 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Venous varicosities of celiac and mesenteric vessels, Dilatation of mesenteric artery, Palate tel... |
OMIM:610655 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hepatic arteriovenous malformation, Ischemic stroke, Spontaneous, recurrent epistaxis, Fingerpad ... |
OMIM:187300 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hepatic arteriovenous malformation, Facial telangiectasia, Ischemic stroke, Spontaneous, recurren... |
OMIM:600376 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Hepatic arteriovenous malformation, Telangiectasia, Cerebral arteriovenous malformation, Pulmonar... |
OMIM:175050 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Juvenile Polyposis Syndrome |
|
Pulmonary arterial hypertension, Hepatic arteriovenous malformation, Mucosal telangiectasiae, Tra... |
ORPHA:2929 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
Phace Syndrome |
|
Aortic root aneurysm, Hypothyroidism, Abnormal cerebral artery morphology, Abnormal carotid arter... |
ORPHA:42775 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Pedal edema, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Venous insufficie... |
ORPHA:568051 |
Klippel-Trénaunay Syndrome |
|
Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Hematuria, Congestive heart failur... |
ORPHA:90308 |
Ring Chromosome 8 Syndrome |
|
Polyhydramnios, Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Prune Belly Syndrome |
|
Patent ductus arteriosus, Vesicoureteral reflux, Urogenital sinus anomaly, Multicystic kidney dys... |
ORPHA:2970 |
Milroy Disease |
|
Pedal edema, Lymphedema, Predominantly lower limb lymphedema, Hydrocele testis, Abnormal venous m... |
ORPHA:79452 |
Spinal Arteriovenous Metameric Syndrome |
|
Urinary bladder sphincter dysfunction, Arteriovenous malformation, Abnormality of the kidney, Con... |
ORPHA:53721 |
Familial Multiple Nevi Flammei |
|
Pulmonary embolism, Arteriovenous malformation, Intracranial hemorrhage, Venous insufficiency, Ed... |
ORPHA:624 |
Lymphedema And Cerebral Arteriovenous Anomaly |
|
Pulmonary arterial hypertension, Lymphedema, Abnormal cerebral vascular morphology |
OMIM:152900 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Polyhydramnios, Renal hypoplasia/aplasia, Hypoplasia of penis, Oligohydramnios, Hypospadias, Abno... |
ORPHA:1046 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Biliary cirrhosis, Renal dysplasia, Malformation of the hepatic ductal plate, Hepatomeg... |
OMIM:208540 |
Transaldolase Deficiency |
|
Cirrhosis, Telangiectasia, Hydrops fetalis, Abnormality of the kidney, Coarctation of aorta, Hepa... |
ORPHA:101028 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Vesicoureteral reflux, Cerebral arteriovenous malformation, Bilateral cryptorchidism, Myocardial ... |
OMIM:150230 |
Thoracic Outlet Syndrome |
|
Edema, Varicose veins |
ORPHA:97330 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the upper urinary tract, Abnormality of the ureter |
ORPHA:3266 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the spleen, Abnormality of the ureter, Hypospadias |
ORPHA:2487 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hematuria, Hypertension, Edema, Nephropathy, Cholestasis, Hepatomegaly, Prote... |
OMIM:105200 |
Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Edema, Venous malformation, Telangiectasia of the skin |
ORPHA:75508 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Retinal hemorrhage, Telangiectasia, Macular edema, Punctate vasculitis skin lesions, Raynaud phen... |
OMIM:192315 |
Renal Hypoplasia |
|
Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec... |
ORPHA:93101 |
Thymic Neuroendocrine Tumor |
|
Increased circulating prolactin concentration, Neoplasm of the thymus, Neoplasm of the endocrine ... |
ORPHA:97289 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Pulmonary embolism, Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
Vein Of Galen Aneurysmal Malformation |
|
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:1053 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Patent ductus arteriosus, Carotid artery stenosis, Ascending tubular aorta aneurysm, Posterior ce... |
OMIM:132900 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Renal agenesis, Oligohydramnios, Abnormality of the endocrine system, Ureteral... |
OMIM:274265 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Patent ductus arteriosus, Pedal edema, Peripheral arterial stenosis, Varicose veins, Sinus bradyc... |
OMIM:126320 |
Reversible Cerebral Vasoconstriction Syndrome |
|
Cerebral edema, Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Transi... |
ORPHA:284388 |
Hereditary Hemorrhagic Telangiectasia |
|
Abnormal cerebral vascular morphology, Retinal telangiectasia, Subarachnoid hemorrhage, Nephrolit... |
ORPHA:774 |
Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E... |
OMIM:617300 |
Kaposi Sarcoma |
|
Lymphedema, Abnormality of the spleen, Abnormality of the liver, Venous insufficiency |
ORPHA:33276 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Patent ductus arteriosus, Polyhydramnios, Hydroureter, Abnormality of the upper urinary tract, Hy... |
ORPHA:2547 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Complete heart block with narrow QRS complexes, Abnormal cardiac ventricular function, Paroxysmal... |
ORPHA:1677 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Pulmonary embolism, Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:743 |
Meige Disease |
|
Pedal edema, Lymphedema, Edema of the dorsum of hands, Predominantly lower limb lymphedema, Pleur... |
ORPHA:90186 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Patent ductus arteriosus, Double outlet right ventricle, Bilateral renal agenesis, Unilateral ren... |
OMIM:618845 |
Thymic Carcinoma |
|
Edema, Neoplasm of the thymus, Abnormal vena cava morphology, Palpebral edema |
ORPHA:99868 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele, Venous malformation, Abnormal cerebral vein morphology |
ORPHA:60015 |
Autosomal Dominant Polycystic Kidney Disease |
|
Aortic root aneurysm, Pancreatic cysts, Hepatic cysts, Recurrent urinary tract infections, Stage ... |
ORPHA:730 |
Diabetic Embryopathy |
|
Abnormal aortic morphology, Spinal dysraphism, Abnormality of the pancreas, Renal hypoplasia/apla... |
ORPHA:1926 |
Lymphatic Malformation 6 |
|
Polyhydramnios, Splenomegaly, Hypothyroidism, Lymphedema, Nonimmune hydrops fetalis, Hydrocele te... |
OMIM:616843 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Arteriovenous malformation, Congestive heart failure, Venous insufficiency, Neoplasm of the thyro... |
ORPHA:137608 |
Arterial Dissection-Lentiginosis Syndrome |
|
Arteriovenous malformation, Arterial dissection |
ORPHA:1682 |
Mucopolysaccharidosis Type 7 |
|
Hydrops fetalis, Lymphedema, Arteriovenous malformation, Hepatitis, Mucopolysacchariduria, Ascite... |
ORPHA:584 |
Capillary Malformation-Arteriovenous Malformation 1 |
|
Arteriovenous malformation, Arteriovenous fistula |
OMIM:608354 |
Dural Sinus Malformation |
|
Cerebellar hemorrhage, Cerebral edema, Vascular dilatation, Cerebral hemorrhage, Carotid cavernou... |
ORPHA:97339 |
Proteus Syndrome |
|
Splenomegaly, Venous malformation |
OMIM:176920 |
Prune Belly Syndrome |
|
Patent ductus arteriosus, Congenital posterior urethral valve, Hydroureter, Oligohydramnios, Xero... |
OMIM:100100 |
Von Willebrand Disease |
|
Venous insufficiency |
ORPHA:903 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation, Lymphedema |
OMIM:613089 |
Wyburn-Mason Syndrome |
|
Vascular dilatation, Cerebral hemorrhage, Abnormal cerebral vascular morphology, Arteriovenous ma... |
ORPHA:53719 |
Dextrocardia |
|
Pancreatic hypoplasia, Abnormal EKG, T-wave inversion, Abnormality of abdominal situs, Abnormalit... |
ORPHA:1666 |
Trisomy 13 |
|
Patent ductus arteriosus, Hydrops fetalis, Abnormality of the ureter, Multiple renal cysts, Crypt... |
ORPHA:3378 |
Alagille Syndrome |
|
Nephrotic syndrome, Renal hypoplasia/aplasia, Telangiectasia of the skin, Hypertension, Spina bif... |
ORPHA:52 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Meningocele, Spina bifida occulta, Anomalous pulmonary venous return, Abnormality of the ureter, ... |
ORPHA:2311 |
Pulmonary Arteriovenous Malformation |
|
Pulmonary arterial hypertension, Pulmonary hemorrhage, Telangiectasia, Ischemic stroke, Hemothora... |
ORPHA:2038 |
Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter, Umbilical hernia |
ORPHA:1035 |
Erythrocytosis, Familial, 2 |
|
Pulmonary arterial hypertension, Hypotension, Elevated circulating erythropoietin concentration, ... |
OMIM:263400 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Renal dysplasia, Unilateral renal atrophy, Pyelonephritis, Nephritis, Cryptorchidism, Varicose veins |
OMIM:314300 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Nephroblastoma, Spinal dysraphism, Venous malformation, Renal hypoplasia, Splenomegaly |
OMIM:612918 |
Caudal Regression Syndrome |
|
Vesicoureteral reflux, Arrhinencephaly, Maternal diabetes, Renal agenesis, Hypertension, Ectopic ... |
ORPHA:3027 |
Foix-Alajouanine Syndrome |
|
Urinary incontinence, Urinary retention, Neurogenic bladder, Myelopathy, Arteriovenous fistula, C... |
ORPHA:79093 |
Adams-Oliver Syndrome |
|
Pulmonary arterial hypertension, Cirrhosis, Encephalocele, Arteriovenous malformation, Gastrointe... |
ORPHA:974 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Glomerulopathy, Tubulointerstitial nephritis, Renal duplication, Recurr... |
ORPHA:33001 |
Silver-Russell Syndrome 1 |
|
Nephroblastoma, Decreased response to growth hormone stimulation test, Congenital posterior ureth... |
OMIM:180860 |
Aneurysm Of Sinus Of Valsalva |
|
Heart murmur, Congestive heart failure, Aortic regurgitation, Edema, Oliguria, Stroke, Dilatation... |
ORPHA:1054 |
Axial Mesodermal Dysplasia Spectrum |
|
Abnormality of the liver, Renal hypoplasia/aplasia, Oligohydramnios, Renal cyst, Abnormality of t... |
ORPHA:1834 |
Currarino Syndrome |
|
Arteriovenous malformation, Vesicoureteral reflux, Hypospadias, Hypoplasia of penis |
ORPHA:1552 |
Blue Rubber Bleb Nevus |
|
Arteriovenous malformation, Intestinal bleeding |
ORPHA:1059 |
Hepatocellular Carcinoma |
|
Hypotension, Pedal edema, Hemobilia, Abnormality of the liver, Liver abscess, Hepatic necrosis, J... |
ORPHA:88673 |
Peutz-Jeghers Syndrome |
|
Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Abnormality of the gallbladder, Renal cel... |
ORPHA:2869 |
Vesicoureteral Reflux 3 |
|
Polyhydramnios, Ureter duplex, Recurrent urinary tract infections, Hydroureter, Grade IV vesicour... |
OMIM:613674 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Abnormal cerebral vascular morphology, Enlarged kidney, Hydrocele testis, Ovarian... |
ORPHA:276280 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly... |
OMIM:301068 |
Atresia Of Urethra |
|
Vesicoureteral reflux, Pulmonary insufficiency, Renal insufficiency, Recurrent urinary tract infe... |
ORPHA:105 |
Hereditary Orotic Aciduria |
|
Patent ductus arteriosus, Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Orotic acid c... |
ORPHA:30 |
Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Pedal edema, Sclerosing cholangitis, Pericarditis, Renal interstitia... |
ORPHA:449395 |
Clapo Syndrome |
|
Varicose veins, Venous malformation, Lymphedema |
ORPHA:168984 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Pulmonary embolism, Pedal edema, Microscopic hematuria, Stage 5 chronic kidney disease, Minimal c... |
ORPHA:567546 |
Lymphangiectasia, Pulmonary, Congenital |
|
Polyhydramnios, Pedal edema, Pulmonary lymphangiectasia, Nonimmune hydrops fetalis, Pleural effus... |
OMIM:265300 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Polycystic ovaries, Abnormality of the ureter, Umbilical hernia |
ORPHA:1770 |
Livedoid Vasculopathy |
|
Pedal edema, Ischemic stroke, Abnormal capillary morphology, Hypertension, Venous insufficiency, ... |
ORPHA:542643 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Vascular dilatation, Renal agenesis, Ectopic kidney, Horseshoe kidney, Ureteral duplication |
OMIM:602200 |
Truncus Arteriosus |
|
Hypoplasia of the thymus, Truncus arteriosus, Tachycardia, Pulmonary artery stenosis, Interrupted... |
ORPHA:3384 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Patent ductus arteriosus, Pancreatic hypoplasia, Biliary atresia, Neonatal insulin-dependent diab... |
ORPHA:2255 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis, Generalized edema, Oligohydramnios |
OMIM:249210 |
Bladder Exstrophy |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnor... |
ORPHA:93930 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Polyhydramnios, Asplenia, Nonimmune hydrops fetalis, Pulmonary artery dilatation, Pleural effusio... |
OMIM:265380 |
Scimitar Syndrome |
|
Patent ductus arteriosus, Double outlet right ventricle, Pulmonary arterial hypertension, Truncus... |
ORPHA:185 |
Lymphedema-Distichiasis Syndrome |
|
Patent ductus arteriosus, Lymphedema, Predominantly lower limb lymphedema, Nonimmune hydrops feta... |
OMIM:153400 |
17Q12 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Elevated hepatic transaminase, Oligohydra... |
ORPHA:261265 |
Renal Nutcracker Syndrome |
|
Dilatation of mesenteric artery, Vulval varicose vein, Syncope, Hematuria, Tachycardia, Renal art... |
ORPHA:71273 |
Penoscrotal Transposition |
|
Renal dysplasia, Penoscrotal transposition, Renal agenesis, Hypospadias, Abnormality of the urete... |
ORPHA:2842 |
Meckel Syndrome, Type 1 |
|
Patent ductus arteriosus, Asplenia, Vascular dilatation, Hypoplasia of the bladder, Anencephaly, ... |
OMIM:249000 |
Glomuvenous Malformation |
|
Arteriovenous malformation, Gastrointestinal arteriovenous malformation, Abnormal renal morpholog... |
ORPHA:83454 |
Aredyld Syndrome |
|
Type II diabetes mellitus, Type I diabetes mellitus, Abnormality of the ureter, Hepatomegaly, Spl... |
ORPHA:1133 |
Urban-Rogers-Meyer Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis, Hypogonadism, Cryptorchidism |
ORPHA:3409 |
Phakomatosis Pigmentovascularis |
|
Arteriovenous malformation |
ORPHA:2875 |
Trisomy 20P |
|
Macroorchidism, Spina bifida, Abnormality of the kidney, Abnormality of the ureter, Hypospadias, ... |
ORPHA:261318 |
Congenital Megacalycosis |
|
Dilatation of renal calices, Tubulointerstitial nephritis, Recurrent urinary tract infections, En... |
ORPHA:93109 |
Cutis Marmorata Telangiectatica Congenita |
|
Patent ductus arteriosus, Hypothyroidism, Multicystic kidney dysplasia, Arteriovenous malformatio... |
ORPHA:1556 |
Loeys-Dietz Syndrome 6 |
|
Abdominal aortic aneurysm, Vertebral artery aneurysm, Carotid artery dissection, Carotid artery d... |
OMIM:619656 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Vascular dilatation, Aortic aneurysm, Arterial dissection, Congestive heart failure, Arterial rup... |
ORPHA:1900 |
Angioosteohypertrophic Syndrome |
|
Pulmonary embolism, Lymphedema, Hematuria, Congestive heart failure, Venous insufficiency, Periph... |
ORPHA:2346 |
Gitelman Syndrome |
|
Parathyroid adenoma, Pericardial effusion, Neoplasm of the pancreas, Graves disease, Palpitations... |
ORPHA:358 |
Congenital Tracheal Stenosis |
|
Anomalous origin of left pulmonary artery from ascending aorta, Patent ductus arteriosus, Polyhyd... |
ORPHA:141127 |
Proteus-Like Syndrome |
|
Venous insufficiency, Polycystic ovaries, Abnormality of the parathyroid gland, Thymus hyperplasi... |
ORPHA:2969 |
Peutz-Jeghers Syndrome |
|
Bladder polyp, Neoplasm of the pancreas, Biliary tract abnormality, Abnormality of the ureter, In... |
OMIM:175200 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Klippel-Trenaunay-Weber Syndrome |
|
Arteriovenous fistula, Lymphedema |
OMIM:149000 |
Non-Acquired Panhypopituitarism |
|
Hypotension, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:90695 |
Cardiac Valvular Dysplasia 1 |
|
Hydronephrosis, Left aortic arch with cervical origin of the right subclavian artery, Hydrops fet... |
OMIM:212093 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Arteriovenous malformation, Telangiectasia of the skin, Cerebral ischemia, Arrhythmia |
ORPHA:60040 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Polyhydramnios, Multicystic kidney dysplasia, Hydroureter, Megacystis, Cryptorchidism, Umbilical ... |
ORPHA:2241 |
Fanconi Anemia |
|
Abnormal testis morphology, Abnormal carotid artery morphology, Hypertrophic cardiomyopathy, Abno... |
ORPHA:84 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Telangiectasia, Neoplasm of the adrenal cortex, Thyroid carcinoma, Lymphedema, Arteriovenous malf... |
ORPHA:109 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology |
ORPHA:1110 |
Exstrophy-Epispadias Complex |
|
Vesicoureteral reflux, Urinary incontinence, Renal duplication, Bladder exstrophy, Absent penis, ... |
ORPHA:322 |
Pelizaeus-Merzbacher Disease |
|
Arteriovenous malformation, Abnormality of the urinary system |
ORPHA:702 |
Menkes Disease |
|
Vascular dilatation, Abnormal carotid artery morphology, Bladder diverticulum, Intracranial hemor... |
ORPHA:565 |
Smith-Magenis Syndrome |
|
Hypothyroidism, Precocious puberty, Renal hypoplasia/aplasia, Delayed puberty, Abnormality of the... |
ORPHA:819 |
Heterotaxy, Visceral, 5, Autosomal |
|
Patent ductus arteriosus, Double outlet right ventricle, Atrial reentry tachycardia, Ascending tu... |
OMIM:270100 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2522 |
Hennekam Syndrome |
|
Hydrops fetalis, Lymphedema, Arteriovenous malformation, Pericardial effusion, Pulmonary lymphang... |
ORPHA:2136 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Hypotension, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test... |
ORPHA:95494 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Patent ductus arteriosus, Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Truncus art... |
OMIM:600001 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hepatic failure, Hydroureter, Oligohydramnios, Megacystis, Portal hypertension, Hydronephrosis |
OMIM:619431 |
Cloacal Exstrophy |
|
Vesicoureteral reflux, Myelomeningocele, Spina bifida, Renal hypoplasia/aplasia, Hydroureter, Hyp... |
ORPHA:93929 |
Classic Homocystinuria |
|
Pulmonary embolism, Cerebral ischemia, Arteriovenous malformation, Elevated hepatic transaminase,... |
ORPHA:394 |
Toriello-Lacassie-Droste Syndrome |
|
Polyhydramnios, Epispadias, Abnormality of the bladder, Abnormality of the ureter, Hypospadias, A... |
ORPHA:3339 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Polyhydramnios, Hydroureter, Megacystis, Neonatal death, Fetal megacystis, Hydronephrosis |
OMIM:619362 |
Schwartz-Jampel Syndrome |
|
Pulmonary arterial hypertension, Polyhydramnios, Testicular torsion, Decreased testicular size, A... |
ORPHA:800 |
Schinzel-Giedion Syndrome |
|
Central hypothyroidism, Nephroblastoma, Neural tube defect, Hepatoblastoma, Renal cyst, Abnormali... |
ORPHA:798 |
Acrorenal-Mandibular Syndrome |
|
Polycystic kidney dysplasia, Absent nipple, Renal agenesis, Oligohydramnios, Abnormality of the u... |
OMIM:200980 |
Superficial Siderosis |
|
Abnormal vertebral artery morphology, Arteriovenous malformation, Internal hemorrhage, Subarachno... |
ORPHA:247245 |
Mckusick-Kaufman Syndrome |
|
Pedal edema, Vesicovaginal fistula, Hydroureter, Polycystic kidney dysplasia, Edema, Cryptorchidi... |
OMIM:236700 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter, Hypogonadism |
ORPHA:3253 |
Ellis Van Creveld Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the kidney, Hydroureter, Epispadias, Abnormality of the ... |
ORPHA:289 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormality of the ureter, Abnormal localization of kidney, Hydronephrosis |
ORPHA:1225 |
Microphthalmia With Limb Anomalies |
|
Horseshoe kidney, Arrhinencephaly, Cryptorchidism, Venous insufficiency |
ORPHA:1106 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Cerebral hemorrhage |
ORPHA:221061 |
Occipital Horn Syndrome |
|
Vascular dilatation, Recurrent urinary tract infections, Hepatitis, Jaundice, Bladder diverticulu... |
ORPHA:198 |
Proteus Syndrome |
|
Sudden cardiac death, Pulmonary embolism, Macroorchidism, Neoplasm of the thymus, Diabetes insipi... |
ORPHA:744 |
Hypermobile Ehlers-Danlos Syndrome |
|
Ascending tubular aorta aneurysm, Arterial dissection, Venous insufficiency, Cystocele, Arrhythmi... |
ORPHA:285 |
Norrie Disease |
|
Diabetes mellitus, Delayed puberty, Cryptorchidism, Venous insufficiency |
ORPHA:649 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Cardiac arrest, Elevated hepatic transaminase, Dicarboxylic aciduria, Hepatic steato... |
OMIM:212138 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hypotension, Hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Ventricular t... |
ORPHA:159 |