Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... |
OMIM:253240 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... |
OMIM:615294 |
Congenital Primary Megaureter |
|
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... |
ORPHA:617 |
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... |
OMIM:615872 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Death in infancy, Respiratory failure, Hydroureter, Hydronephrosis |
OMIM:618240 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... |
ORPHA:70589 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... |
OMIM:267450 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure, Bilateral renal agenesis, Pulmonary hypoplasia |
OMIM:619887 |
Immunodeficiency 95 |
|
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... |
OMIM:619773 |
Urofacial Syndrome 1 |
|
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... |
OMIM:236730 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... |
OMIM:616726 |
Asbestos Intoxication |
|
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... |
ORPHA:2302 |
Vesicoureteral Reflux 3 |
|
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... |
OMIM:613674 |
Renal Dysplasia, Cystic, Susceptibility To |
|
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... |
OMIM:601331 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... |
OMIM:619466 |
Polycystic Kidney Disease 7 |
|
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i... |
OMIM:620056 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
RCAD (renal cysts and diabetes) |
|
Multiple renal cysts |
DECIPHER:47 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Recurrent respiratory infections, Glomerulonephritis, Stage 5 chronic kidney diseas... |
OMIM:613496 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Cystic Hamartoma Of Lung And Kidney |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Pulmonary fibrosis, Respiratory i... |
ORPHA:2111 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Respiratory in... |
OMIM:602088 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... |
OMIM:610921 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:253300 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... |
ORPHA:60032 |
Nephronophthisis 20 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... |
OMIM:617271 |
Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq... |
OMIM:265120 |
Familial Nasal Acilia |
|
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... |
ORPHA:922 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis |
OMIM:274265 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Chronic sinusitis, Recurrent bronchitis |
OMIM:300455 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
Acute Interstitial Pneumonia |
|
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... |
ORPHA:79126 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Recurrent respiratory infections, Renal insufficiency, Renal agenesis, Stag... |
OMIM:615993 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Abnormality of the ureter, Hypospadias, Respiratory insufficiency |
ORPHA:2487 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Tach... |
OMIM:263000 |
Infundibulopelvic Dysgenesis |
|
Multicystic kidney dysplasia, Microscopic hematuria |
OMIM:600989 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Renal cyst |
OMIM:615987 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... |
OMIM:610978 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... |
ORPHA:70588 |
Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
Prune Belly Syndrome |
|
Recurrent respiratory infections, Renal insufficiency, Multicystic kidney dysplasia, Recurrent ur... |
ORPHA:2970 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Hydroureter, Nephrolithiasis |
OMIM:617219 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... |
ORPHA:3348 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... |
ORPHA:2973 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder |
ORPHA:2547 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence |
OMIM:300717 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... |
ORPHA:2902 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract i... |
ORPHA:79128 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... |
OMIM:610913 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... |
ORPHA:70587 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
Emphysema, Hereditary Pulmonary |
|
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis |
OMIM:130700 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Hydroureter, Fetal megacystis |
OMIM:249210 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis |
OMIM:619362 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Abnormality of ... |
ORPHA:90117 |
Hanac Syndrome |
|
Hematuria, Renal insufficiency, Multiple renal cysts |
ORPHA:73229 |
Pneumocystosis |
|
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... |
ORPHA:723 |
Macdermot-Winter Syndrome |
|
Death in infancy, Hydronephrosis |
OMIM:247990 |
Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis |
OMIM:100100 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiati... |
OMIM:263200 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Respiratory insufficiency, Nephropathy, Abnorm... |
ORPHA:1909 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Neonatal death, Hepatomegaly, Renal cyst |
OMIM:614870 |
Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... |
OMIM:614370 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Death in childhood |
OMIM:616081 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Death in infancy, Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis |
OMIM:618845 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret... |
ORPHA:1046 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Glomerulonephritis, Crackles, Cardiomegaly, Nodular pattern on pulmonary HRCT, Dysp... |
ORPHA:99931 |
Atresia Of Urethra |
|
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... |
ORPHA:105 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:132 |
Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy |
OMIM:600057 |
Hinman Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... |
ORPHA:84085 |
Urofacial Syndrome 2 |
|
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... |
OMIM:615112 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Renal cyst |
OMIM:174050 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Pneumonia, Ground-glass opacification, Respiratory tract infection, Dyspnea, Nonproductive cough,... |
ORPHA:1303 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Hypospadias, Atelectasis, Glandular hypospadias, Neonatal... |
OMIM:300219 |
Hepatic Veno-Occlusive Disease |
|
Renal insufficiency, Respiratory failure, Hepatomegaly |
ORPHA:890 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... |
ORPHA:266 |
Interstitial Lung Disease 1 |
|
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Ground-glass opacif... |
OMIM:619611 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Pulmonary cyst, Enlarged kidney |
OMIM:618272 |
Idiopathic Acute Eosinophilic Pneumonia |
|
Abnormal pleura morphology, Respiratory insufficiency, Pulmonary infiltrates, Restrictive ventila... |
ORPHA:724 |
Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Renotubular dysgen... |
ORPHA:3033 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... |
ORPHA:79127 |
Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
Bardet-Biedl Syndrome 12 |
|
Hydronephrosis, Hydroureter, Cystic renal dysplasia |
OMIM:615989 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Stillbirth, Renal hypoplasia, Respiratory insufficiency |
OMIM:276950 |
Ciliary Dyskinesia, Primary, 5 |
|
Recurrent respiratory infections, Neonatal respiratory distress, Recurrent pneumonia, Bronchiecta... |
OMIM:608647 |
Pulmonary Hemosiderosis |
|
Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Pulmonary fibrosis, Respira... |
OMIM:178550 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Pulmonary hypoplasia, Neonatal death... |
OMIM:236500 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Abnormal lung lobation, Stillbirth, Pulmonary hypoplasia, Cystic ren... |
OMIM:615415 |
Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... |
OMIM:191800 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydron... |
OMIM:613390 |
Joubert Syndrome 20 |
|
Renal cyst, Respiratory insufficiency |
OMIM:614970 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydroureter, Megacystis, Hydronephrosis |
OMIM:619431 |
Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Pulmonary hypoplasia, Renal dysplasia |
ORPHA:3032 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Multiple renal cysts, Respiratory insufficiency |
ORPHA:2924 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Hypospadias, Respiratory failure, Death in childhood, Neonatal death |
OMIM:619334 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:2091 |
Nemaline Myopathy 8 |
|
Death in infancy, Respiratory failure |
OMIM:615348 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Death in infancy, Renal insufficiency, Hepatomegaly, Renal hypoplasia, Renal cyst, Renal tubular ... |
OMIM:614922 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Death in infancy, Neonatal respiratory distress, Ureteral duplication, Apnea, Re... |
OMIM:608836 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Death in infancy, Respiratory failure, Renal cyst, Hepatomegaly |
OMIM:614862 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Hydronephrosis |
OMIM:222300 |
Bronchogenic Cyst |
|
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... |
ORPHA:2357 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney, Polycystic ovaries |
ORPHA:90301 |
Thomas Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3316 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Pulmonary hypoplasia, Neonatal death, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hydroureter, Megacystis |
ORPHA:2241 |
Noonan Syndrome 9 |
|
Hydroureter |
OMIM:616559 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic... |
ORPHA:730 |
Idiopathic Pulmonary Fibrosis |
|
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... |
ORPHA:2032 |
Birt-Hogg-Dube Syndrome 1 |
|
Renal neoplasm, Multiple pulmonary cysts, Spontaneous pneumothorax, Renal cyst, Renal cell carcinoma |
OMIM:135150 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Death in infancy, Hepatomegaly, Ectopic kidney, Neonatal death, Cystic renal dysplasia |
OMIM:613730 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Renal hypoplasia/aplasia, Respiratory insufficiency, Multiple renal cysts, Vesicoureteral reflux,... |
ORPHA:1166 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti... |
ORPHA:244 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal renal morphology, Abnormal res... |
ORPHA:449280 |
Congenital Myopathy 19 |
|
Respiratory insufficiency due to muscle weakness, Renal atrophy, Hydronephrosis, Respiratory insu... |
OMIM:618578 |
Bardet-Biedl Syndrome 4 |
|
Abnormality of the kidney, Renal cyst |
OMIM:615982 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Urethral stricture, Multicystic kidney dysplasia, Recurrent urinary tract i... |
ORPHA:79404 |
Nephronophthisis 14 |
|
Polycystic kidney dysplasia, Nephronophthisis |
OMIM:614844 |
Diaphanospondylodysostosis |
|
Respiratory distress, Nephrogenic rest, Nephroblastomatosis, Respiratory insufficiency, Horseshoe... |
OMIM:608022 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary... |
ORPHA:36238 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Renal insufficiency, Lacticaciduria, Respiratory failure, Aminoaciduria |
OMIM:619386 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia |
OMIM:619057 |
Cloacal Exstrophy |
|
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Ure... |
ORPHA:93929 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Hepatic cysts, Pancreatic cysts, Splenomegaly, Stage 5 chronic... |
OMIM:208540 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... |
ORPHA:178320 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Penile Agenesis |
|
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... |
ORPHA:49 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... |
ORPHA:454836 |
Nephrogenic Diabetes Insipidus |
|
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... |
ORPHA:223 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abn... |
OMIM:620233 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Functional abnormality of the bladder |
ORPHA:71211 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Recurrent respiratory infections, Death in infancy, Intraalveolar phospholipid accumulation, Resp... |
OMIM:618042 |
Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter |
OMIM:616367 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
Czeizel-Losonci Syndrome |
|
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Pulmonary hypoplasia... |
ORPHA:2437 |
Ochoa Syndrome |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... |
ORPHA:2704 |
Pontocerebellar Hypoplasia, Type 4 |
|
Death in infancy, Respiratory failure |
OMIM:225753 |
Cat-Eye Syndrome |
|
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:195 |
Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
Meckel Syndrome, Type 9 |
|
Multicystic kidney dysplasia |
OMIM:614209 |
Joubert Syndrome 7 |
|
Central apnea, Episodic tachypnea, Tachypnea, Stage 5 chronic kidney disease, Renal cyst, Nephron... |
OMIM:611560 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Renal neoplasm, Recurrent respiratory infections, Dyspnea, Renal angiomyo... |
ORPHA:538 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Lacticaciduria, Respiratory insufficiency, Methy... |
OMIM:245400 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea |
ORPHA:254361 |
Codas Syndrome |
|
Hydroureter |
ORPHA:1458 |
Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci... |
OMIM:300770 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Polycystic Liver Disease 4 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617875 |
Polycystic Liver Disease 3 With Or Without Kidney Cysts |
|
Hepatic cysts, Renal cyst |
OMIM:617874 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Neonatal respiratory distress, Stage 5 chronic kidney disease, Nephr... |
OMIM:194080 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency |
OMIM:614399 |
Chronic Beryllium Disease |
|
Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys... |
ORPHA:133 |
C1Q Deficiency 2 |
|
Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis |
OMIM:620321 |
X-Linked Intellectual Disability, Schimke Type |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia |
OMIM:620326 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Pulmonary hypoplasia, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephr... |
OMIM:236700 |
Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Recurrent respiratory infections, Proteinuria, Splenomegaly, ... |
OMIM:617303 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... |
ORPHA:70578 |
Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Hydronephrosis |
OMIM:607598 |
Joubert Syndrome 16 |
|
Renal cyst, Nephronophthisis |
OMIM:614465 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney |
OMIM:602200 |
Pallister-Hall Syndrome |
|
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Abnormal lung lobation... |
OMIM:146510 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Meckel Syndrome, Type 11 |
|
Polycystic kidney dysplasia |
OMIM:615397 |
Pulmonary Alveolar Microlithiasis |
|
Calcium nephrolithiasis, Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exert... |
ORPHA:60025 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Multiple renal cysts, Apnea, Renal cyst |
OMIM:614883 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... |
ORPHA:93110 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory failure, Respiratory insufficiency, Micropenis |
ORPHA:370968 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Rhyns Syndrome |
|
Multicystic kidney dysplasia, Nephronophthisis |
ORPHA:140976 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death |
OMIM:611890 |
8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Nephronophthisis 9 |
|
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:613824 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
Medullary cystic kidney disease 2 |
|
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia |
ORPHA:1756 |
Alg1-Cdg |
|
Nephrotic syndrome, Respiratory failure, Renal insufficiency, Abnormality of the kidney |
ORPHA:79327 |
Microphthalmia, Lenz Type |
|
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:568 |
Diaphanospondylodysostosis |
|
Respiratory distress, Multiple renal cysts |
ORPHA:66637 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
Kaposiform Lymphangiomatosis |
|
Epistaxis, Pancreatic cysts, Dyspnea, Splenomegaly, Abnormal lung morphology, Hepatosplenomegaly,... |
ORPHA:464329 |
Trisomy 1Q |
|
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis |
ORPHA:261344 |
Ciliary Dyskinesia, Primary, 42 |
|
Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat... |
OMIM:618695 |
Bardet-Biedl Syndrome 19 |
|
Hydronephrosis, Renal insufficiency, Renal hypoplasia |
OMIM:615996 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:3270 |
Trisomy X |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia |
ORPHA:3375 |
Familial Visceral Myopathy |
|
Vesicoureteral reflux, Hydroureter, Megacystis |
ORPHA:2604 |
Renal Coloboma Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... |
ORPHA:1475 |
Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Renal cyst |
OMIM:231060 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... |
ORPHA:217563 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Death in infancy, Alpha-aminoadipic aciduria, ... |
OMIM:605711 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... |
ORPHA:3027 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
Radio-Renal Syndrome |
|
Respiratory distress, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Dys... |
ORPHA:3015 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Marden-Walker Syndrome |
|
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... |
ORPHA:2461 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Death in infancy, Hepatomegaly, Hypospadias, Abnormality of the kidney, Respiratory failure, 3-Me... |
ORPHA:1194 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr... |
OMIM:244400 |
Joubert Syndrome 35 |
|
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections |
OMIM:618161 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Xanthinuria, Type I |
|
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis |
OMIM:278300 |
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency |
OMIM:601612 |
Polysyndactyly With Cardiac Malformation |
|
Stillbirth, Hepatic cysts, Renal cyst |
OMIM:263630 |
Ellis Van Creveld Syndrome |
|
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm... |
ORPHA:289 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Nephrolithiasis |
ORPHA:352447 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... |
OMIM:300707 |
Diabetic Embryopathy |
|
Ureteral duplication, Renal hypoplasia/aplasia, Micropenis, Abnormality of the pulmonary artery, ... |
ORPHA:1926 |
Bor Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... |
ORPHA:107 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum... |
ORPHA:2590 |
Meacham Syndrome |
|
Death in infancy, Congenital alveolar dysplasia, Partial anomalous pulmonary venous return, Horse... |
OMIM:608978 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Interstitial pneumonitis, Recurrent upper respiratory tract infec... |
OMIM:620296 |
Carpenter Syndrome 1 |
|
Hydroureter, Hydronephrosis |
OMIM:201000 |
6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Respiratory insufficiency, Res... |
OMIM:613845 |
Raine Syndrome |
|
Death in infancy, Hydroureter, Pulmonary hypoplasia, Neonatal death, Hydronephrosis |
OMIM:259775 |
Tetraploidy |
|
Aplasia/Hypoplasia of the lungs, Hydronephrosis, Renal hypoplasia/aplasia |
ORPHA:3305 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Apnea, Hydronephrosis |
OMIM:619797 |
Meckel Syndrome 13 |
|
Polycystic kidney dysplasia |
OMIM:617562 |
Renal Hypoplasia, Bilateral |
|
Neonatal respiratory distress, Proteinuria, Chronic kidney disease, Renal hypoplasia, Renal cyst,... |
ORPHA:97362 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure |
OMIM:616867 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Hyperphosphaturia, Proteinuria, Respiratory insufficiency due... |
OMIM:220110 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Pulmonary artery dilatation, Neonatal respiratory distress, Hydroureter, Hypospadias, Pulmonary a... |
OMIM:265380 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia |
OMIM:617914 |
Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Atelectasis, Recurrent pneumonia, Pulmonary hypoplasia, Multiple bladder divert... |
OMIM:613177 |
Say Syndrome |
|
Proximal renal tubular acidosis, Cystic renal dysplasia |
OMIM:181180 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pulmonary hypoplasia, Extrapulmonary sequestrum, Cystic renal dysplasia, Enlarged k... |
OMIM:200995 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
Frontometaphyseal Dysplasia 1 |
|
Stridor, Hydroureter, Hydronephrosis |
OMIM:305620 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Respiratory failure, Beta-aminoisobutyric aciduria, Respiratory insufficiency |
OMIM:615330 |
Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... |
ORPHA:1834 |
Chand Syndrome |
|
Atelectasis, Hydroureter |
ORPHA:1401 |
Distal Duplication 6P |
|
Hydronephrosis, Abnormality of the urinary system, Abnormal lung lobation, Renal hypoplasia |
ORPHA:1745 |
Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis |
ORPHA:896 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Congenital megaurete... |
ORPHA:280633 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Pneumothorax, Renal cyst, Nephrocalcinosis, Respiratory failure, 3-Methylglu... |
ORPHA:445038 |
Netherton Syndrome |
|
Recurrent respiratory infections, Ectopic kidney, Asthma, Aminoaciduria, Emphysema, Hydronephrosis |
ORPHA:634 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Sterile pyuria, Tubulointer... |
ORPHA:449395 |
Short-Rib Thoracic Dysplasia 12 |
|
Hepatomegaly, Splenomegaly, Atelectasis, Renal hypoplasia, Respiratory insufficiency, Pulmonary h... |
OMIM:269860 |
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps |
|
Hematuria, Renal insufficiency, Renal cyst |
OMIM:611773 |
Ciliary Dyskinesia, Primary, 20 |
|
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... |
OMIM:615067 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:2995 |
Primary Hyperoxaluria Type 2 |
|
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... |
ORPHA:93599 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... |
ORPHA:2842 |
Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... |
ORPHA:3467 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis, Acute kidney injury |
ORPHA:330021 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria |
ORPHA:251004 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Urinary incontinence, Tachypnea, Respiratory failure, Inspiratory stridor, Ventilator dependence ... |
OMIM:604320 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Polycystic kidney dysplasia |
OMIM:614859 |
Vici Syndrome |
|
Renal tubular acidosis, Death in infancy, Recurrent respiratory infections, Ureteral atresia |
ORPHA:1493 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical ... |
OMIM:231680 |
Hyperparathyroidism 2 With Jaw Tumors |
|
Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Nephroblastoma, Ren... |
OMIM:145001 |
Meckel Syndrome 12 |
|
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia |
OMIM:616258 |
Fraser Syndrome 3 |
|
Hypoplasia of the bladder, Hypoplasia of penis, Abnormal lung lobation, Ureteral agenesis, Stillb... |
OMIM:617667 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... |
ORPHA:79403 |
Axial Osteomalacia |
|
Renal cyst |
OMIM:109130 |
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease |
|
Hepatic cysts, Polycystic kidney dysplasia |
OMIM:600666 |
17Q12 Microdeletion Syndrome |
|
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia |
ORPHA:261265 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Urinary incontinence, Stridor, Urinary urgency, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
Immunodeficiency 54 |
|
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Acute kidney injury, Decreased urine... |
ORPHA:542323 |
Oeis Complex |
|
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... |
OMIM:258040 |
Joubert Syndrome 18 |
|
Renal cyst, Horseshoe kidney |
OMIM:614815 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea... |
OMIM:614377 |
Microphthalmia, Syndromic 9 |
|
Renal malrotation, Pulmonary artery atresia, Agenesis of pulmonary vessels, Renal hypoplasia, Res... |
OMIM:601186 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Renal insufficiency, Recurrent urinary tract infections, Spontaneous pneumothora... |
ORPHA:731 |
Fraser Syndrome 2 |
|
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Respiratory failu... |
OMIM:617666 |
Bardet-Biedl Syndrome 6 |
|
Hypospadias, Renal cyst |
OMIM:605231 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Recurrent respiratory infections, Proteinuria, Heparan sulfate excretion in... |
ORPHA:505248 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... |
OMIM:232200 |
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis |
|
Renal angiomyolipoma, Polycystic kidney dysplasia |
OMIM:600273 |
Trisomy 13 |
|
Abnormal lung lobation, Abnormality of the ureter, Multiple renal cysts, Displacement of the uret... |
ORPHA:3378 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomeg... |
ORPHA:308552 |
Cystic Echinococcosis |
|
Hepatomegaly, Abnormal pulmonary thoracic imaging finding, Multiple pulmonary cysts, Pulmonary cy... |
ORPHA:400 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure |
OMIM:614299 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... |
OMIM:604292 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Renal insufficiency, Crackles, Nonproductive cough, Atelectasis, Oliguria, ... |
ORPHA:319213 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Dyspnea, Glutaric aciduria, Lacticaciduria, Cardiorespiratory arrest, Restrictive v... |
ORPHA:26791 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... |
OMIM:617641 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia |
OMIM:173900 |
Snakebite Envenomation |
|
Respiratory failure, Acute kidney injury, Respiratory paralysis, Epistaxis |
ORPHA:449285 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Abnormal lung lobation, Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary ... |
ORPHA:369837 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... |
ORPHA:158684 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy, Recurrent respiratory infections, Pulmonary hypoplasia, P... |
OMIM:184260 |
Simpson-Golabi-Behmel Syndrome |
|
Death in infancy, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hyposp... |
ORPHA:373 |
White-Kernohan Syndrome |
|
Hydroureter, Hydronephrosis, Horseshoe kidney |
OMIM:619426 |
Cockayne Syndrome Type 3 |
|
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Sp... |
ORPHA:90324 |
H Syndrome |
|
Abnormality of the kidney, Recurrent pharyngitis, Bronchiectasis, Hepatosplenomegaly, Chronic rhi... |
ORPHA:168569 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Neonatal respiratory distress, Ureteral stenosis, Apnea, Asthma... |
ORPHA:2257 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec... |
OMIM:232220 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
OMIM:613735 |
Alg9-Cdg |
|
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Hepatic cysts, Asthma, Abnormal lun... |
ORPHA:79328 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... |
ORPHA:258 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Duplicated collecting system, Recurrent respiratory infections, Hydroureter, Renal agenesis, Hydr... |
OMIM:129900 |
Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Orotic acid crystalluria, Splenomegaly, Abnormality of the uret... |
ORPHA:30 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Renal cyst, Respiratory insufficiency |
ORPHA:2031 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Ovarian cyst, Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona... |
ORPHA:98913 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Hepatomegaly, Cardiomegaly, Respiratory insufficiency due to mus... |
ORPHA:365 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Micropenis, Hypospadias |
OMIM:617516 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure, Hydronephrosis |
OMIM:620327 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter |
ORPHA:1035 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph... |
OMIM:180860 |
Endove Syndrome, Limb-Brain Type |
|
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections |
OMIM:619218 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter |
OMIM:610759 |
Farber Disease |
|
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... |
ORPHA:333 |
Hardikar Syndrome |
|
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... |
OMIM:301068 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea |
ORPHA:2759 |
Severe Congenital Nemaline Myopathy |
|
Respiratory failure, Hypospadias, Pulmonary hypoplasia, Micropenis |
ORPHA:171430 |
Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Proximal tubulopathy, Renal cyst, Death in childhood |
OMIM:602579 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:256100 |
Melnick-Needles Syndrome |
|
Vesicoureteral reflux, Recurrent respiratory infections, Hydronephrosis, Respiratory insufficiency |
ORPHA:2484 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Recurrent respiratory infections, Cardiomegaly, Atelectasis, Tachypnea, Respiratory... |
OMIM:618278 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Hypospadia... |
ORPHA:209905 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney dis... |
OMIM:613095 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Cardiomegaly, Pleural effusion, Enlarged kidney, Pulmonary edema |
OMIM:261740 |
Boutonneuse Fever |
|
Renal insufficiency, Respiratory failure |
ORPHA:83313 |
Leigh Syndrome |
|
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency |
OMIM:256000 |
Congenital Myopathy 17 |
|
Respiratory tract infection, Renal hypoplasia, Respiratory insufficiency, Pulmonary hypoplasia, U... |
OMIM:618975 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Hydronephrosis |
OMIM:618060 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... |
OMIM:606966 |
Intermediate Nemaline Myopathy |
|
Respiratory failure |
ORPHA:171433 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hydronephrosis |
OMIM:620141 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Recurrent respiratory infections, Cough |
ORPHA:2314 |
Cardiac Valvular Dysplasia 1 |
|
Pulmonary artery atresia, Urethral diverticulum, Hydroureter, Hydronephrosis |
OMIM:212093 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure |
OMIM:610678 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis |
OMIM:269150 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation |
OMIM:603689 |
Zellweger Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hepatomegaly, Hypospadias, Respiratory insufficie... |
ORPHA:912 |
Williams-Beuren Region Duplication Syndrome |
|
Hydronephrosis, Unilateral renal agenesis |
OMIM:609757 |
Pontocerebellar Hypoplasia Type 1 |
|
Respiratory failure, Congenital laryngeal stridor |
ORPHA:2254 |
Joubert Syndrome 37 |
|
Hepatomegaly, Micropenis, Hydronephrosis |
OMIM:619185 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:618233 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Cardiomegaly, Micropenis, Pulmonary hypoplasia, Pleural effusion, Hydronephrosis |
OMIM:616897 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency |
OMIM:618186 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Dyspnea, Respirat... |
ORPHA:2636 |
Campomelia, Cumming Type |
|
Pancreatic cysts, Polycystic kidney dysplasia |
OMIM:211890 |
Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis |
OMIM:179613 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Pulmonary hypop... |
OMIM:614080 |
Bladder Exstrophy |
|
Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V... |
ORPHA:93930 |
Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... |
OMIM:276700 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Pulmonary hypoplasia... |
ORPHA:314588 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Recurrent respiratory infections, Pneumonia, Abnormal respiratory system physiology, Respiratory ... |
ORPHA:98905 |
Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Dyspnea, Atelectasis, Hematuria, Cough, Abnorma... |
ORPHA:728 |
Zygomycosis |
|
Renal insufficiency, Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acut... |
ORPHA:73263 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Bilateral renal agenesis, Unilateral renal agenesis, Hydroureter |
OMIM:619194 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Splenomegaly, Renal cyst, Respiratory failure, Pulmonary hypoplasia, Hyperechogen... |
OMIM:615636 |
Tibial Muscular Dystrophy |
|
Respiratory failure |
ORPHA:609 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Renal duplication |
OMIM:270420 |
Peutz-Jeghers Syndrome |
|
Enlarged polycystic ovaries, Abnormality of the ureter, Neoplasm of the lung, Renal cell carcinom... |
ORPHA:2869 |
Verheij Syndrome |
|
Renal agenesis, Renal hypoplasia, Renal cyst |
OMIM:615583 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Renal neoplasm, Repeated pneumothoraces, Atelectasis, Respiratory insuffici... |
ORPHA:536467 |
Vacterl/Vater Association |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... |
ORPHA:887 |
Niemann-Pick Disease, Type C2 |
|
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... |
OMIM:607625 |
Coach Syndrome 1 |
|
Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Stag... |
OMIM:216360 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro... |
OMIM:137920 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormality of the ureter, Hypospadias |
ORPHA:2522 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Sinusitis, Ureteral stenosis, Epistaxis, Proteinuria, Recurr... |
ORPHA:900 |
Kleefstra Syndrome |
|
Recurrent respiratory infections, Hypoplasia of penis, Renal insufficiency, Hypospadias, Dyspnea,... |
ORPHA:261494 |
Tetrasomy 15Q26 |
|
Hydronephrosis, Horseshoe kidney |
OMIM:614846 |
Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
Meckel Syndrome, Type 10 |
|
Micropenis, Hypospadias, Renal cyst |
OMIM:614175 |
Meckel Syndrome, Type 6 |
|
Bilobed right lung, Renal cyst, Horseshoe kidney, Aplasia of the bladder, Pulmonary hypoplasia, H... |
OMIM:612284 |
Chromosome 17Q12 Deletion Syndrome |
|
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... |
OMIM:614527 |
Meckel Syndrome, Type 5 |
|
Renal cyst |
OMIM:611561 |
Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis |
OMIM:610733 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure |
ORPHA:75840 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney |
ORPHA:276280 |
Suleiman-El-Hattab Syndrome |
|
Recurrent respiratory infections, Hydronephrosis |
OMIM:618950 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis |
OMIM:618494 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication |
ORPHA:96169 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure |
ORPHA:70472 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Micropenis, Death in childhood |
OMIM:619847 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Death in infancy, Renal insufficiency, Recurrent respiratory infections, Proteinuria, Pancreatic ... |
OMIM:208500 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Glomerulopathy, Renal insufficiency, Proteinuria, Recurrent respiratory infecti... |
ORPHA:534 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
Igg4-Related Aortitis |
|
Asthma, Hydronephrosis |
ORPHA:449400 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Urinary incontinence, Respiratory failure, Neonatal death, P... |
OMIM:616482 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Epistaxis, Stage 5 chronic kidney disease, Nephrolithiasis, Polycystic... |
ORPHA:79259 |
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Restrictive ventilatory defect, Respiratory failure |
OMIM:606612 |
Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis |
ORPHA:261290 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:615994 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Abnormality of the ureter |
ORPHA:3409 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Renal cyst, Pulmonary hypoplasia, Polycystic kidney dysplasia |
OMIM:614091 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Recurrent bronchitis, Cardiomegaly, Splenomegaly, Recurrent pneumonia, Mucopolysacc... |
OMIM:252500 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Tachypnea, Death in childhood |
OMIM:615838 |
22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis |
ORPHA:1727 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hepatomegaly, Hypospadias, Pulmonary artery atresia, Vesicoureteral... |
OMIM:301056 |
Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydronephrosis |
OMIM:220210 |
Familial Adenomatous Polyposis 4 |
|
Ovarian cyst, Renal cyst |
OMIM:617100 |
Campomelia, Cumming Type |
|
Death in infancy, Multicystic kidney dysplasia, Hepatomegaly, Pancreatic cysts, Multiple renal cysts |
ORPHA:1318 |
Fanconi Anemia |
|
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... |
ORPHA:84 |
Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Pulmonary hypoplasia, Apnea, Hydronephrosis |
ORPHA:85201 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis |
ORPHA:93260 |
Riddle Syndrome |
|
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... |
ORPHA:420741 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Abnormal lung lobation, Pulmonary hypoplasia, Polycystic kidney dysplasia |
OMIM:263210 |
Femoral-Facial Syndrome |
|
Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:1988 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Renal insufficiency, Hypospadias, Urolithiasis, Hyperuricosuria, Death in childhood, Uric acid ne... |
OMIM:300661 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... |
ORPHA:116 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Polycystic ovaries, Abnormality of the ureter, Renal hypoplasia/aplasia |
ORPHA:1770 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hepatomegaly, Polycystic kidney dysplasia, Hepatosplenomegaly |
OMIM:608776 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Neonatal respiratory distress, Red-brown urine, Stage 5 chronic kidney disease, Ren... |
ORPHA:157 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Respiratory failure |
ORPHA:363400 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Pulmonary hypoplasia |
OMIM:617895 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Multicystic kidney dysplasia |
OMIM:607361 |
46,Xy Sex Reversal 4 |
|
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:154230 |
Aredyld Syndrome |
|
Splenomegaly, Hepatomegaly, Abnormality of the ureter |
ORPHA:1133 |
Igg4-Related Retroperitoneal Fibrosis |
|
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... |
ORPHA:49041 |
Proximal Spinal Muscular Atrophy |
|
Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato... |
ORPHA:70 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis |
OMIM:618460 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Proteinuria, Pneumonia, Epistaxis, Glomerulonephritis, Dyspnea, Chr... |
ORPHA:340 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myoglobinuria, Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Anomalous pulmonary venous return, Abnormality of the ureter, Hypospadias, Respiratory insufficiency |
ORPHA:2311 |
Al-Gazali Syndrome |
|
Recurrent pneumonia, Hydronephrosis |
OMIM:609465 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Neonatal respiratory distress, Hydronephrosis |
ORPHA:457193 |
Kury-Isidor Syndrome |
|
Hydronephrosis |
OMIM:619762 |
Webb-Dattani Syndrome |
|
Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis |
OMIM:615926 |
9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:531151 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Neurogenic bladder, Hepatomegaly, Neonatal asphyxia, Splenomegaly, Respiratory ... |
OMIM:608779 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hydronephrosis |
OMIM:104350 |
Congenital Myopathy 10B, Mild Variant |
|
Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia |
OMIM:620249 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Hepatomegaly, Respiratory failure, Recurrent respiratory infections |
ORPHA:3226 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Respiratory insufficiency due to muscle weakness, Nephrolithia... |
ORPHA:18 |
3C Syndrome |
|
Death in infancy, Hypoplasia of penis, Recurrent respiratory infections, Hypospadias, Hydronephrosis |
ORPHA:7 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Hydronephrosis |
OMIM:619179 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Right ventricular... |
ORPHA:444013 |
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Duplication of renal pelvis, Ureteral duplication |
ORPHA:457212 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... |
ORPHA:563 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Hepatomegaly, Bilateral trilobed lung, Renal agenesis, Cardiomegaly, Horses... |
OMIM:306955 |
Dextrocardia |
|
Abnormal renal morphology, Abnormal lung lobation, Abnormality of the ureter, Abnormal pulmonary ... |
ORPHA:1666 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Renal insufficiency, Abnormality of the kidney, Respiratory tract infection... |
ORPHA:805 |
Whim Syndrome |
|
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... |
ORPHA:51636 |
Amyotrophic Lateral Sclerosis |
|
Dyspnea, Respiratory failure, Abnormal respiratory system physiology |
ORPHA:803 |
Muscular Dystrophy, Duchenne Type |
|
Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti... |
OMIM:310200 |
Trisomy 20P |
|
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... |
ORPHA:261318 |
22Q11.2 Deletion Syndrome |
|
Hypospadias, Splenomegaly, Asthma, Chronic pulmonary obstruction, Abnormal lung lobation, Renal h... |
ORPHA:567 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Hepatomegaly, Splenomegaly, Pulmonary lymphangiectasia, Micropenis, Hydronephrosis |
OMIM:235255 |
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
Ogden Syndrome |
|
Global glomerulosclerosis, Peripheral pulmonary artery stenosis, Apnea, Cardiomegaly, Pulmonary a... |
OMIM:300855 |
Johanson-Blizzard Syndrome |
|
Death in infancy, Hypoplasia of penis, Hypospadias, Hydronephrosis |
ORPHA:2315 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Patent urachus, Death in childhood |
OMIM:618252 |
Immunodeficiency 96 |
|
Recurrent lower respiratory tract infections, Multicystic kidney dysplasia |
OMIM:619774 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Neonatal respiratory distress, Hypospadias, Aminoaciduria, Albuminuria, Pulmonary h... |
OMIM:214100 |
Meckel Syndrome, Type 2 |
|
Renal cyst |
OMIM:603194 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... |
ORPHA:2237 |
Erdheim-Chester Disease |
|
Renal insufficiency, Dysuria, Dyspnea, Abnormal pulmonary interstitial morphology, Pulmonary fibr... |
ORPHA:35687 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Abnormality of the kidney, Neonatal asphyxia, Wheezing, Dyspnea, Abnormalit... |
ORPHA:141127 |
Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... |
ORPHA:2036 |
Nephronophthisis-Like Nephropathy 1 |
|
Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal... |
OMIM:613159 |
Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis |
ORPHA:1297 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Pulmonary arterial hypertension, Recurrent pneumonia, Hypospadias, Hydronephrosis |
OMIM:616449 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion |
OMIM:306400 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Hypopnea, Respiratory failure, 3-Methylglutaric aciduria, 3-Methylglutac... |
OMIM:617248 |
Branchiootorenal Syndrome 1 |
|
Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic... |
OMIM:113650 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Neonatal respiratory distress, Renal insufficiency, Dicarboxylic aciduria, Cardiome... |
ORPHA:228308 |
Spinocerebellar Ataxia Type 1 |
|
Respiratory failure |
ORPHA:98755 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure, Hydronephrosis |
ORPHA:254528 |
Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
Diphallia |
|
Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe... |
ORPHA:227 |
Zaki Syndrome |
|
Renal agenesis, Hydronephrosis |
OMIM:619648 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Hydronephrosis |
ORPHA:364028 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Apnea, Aminoaciduria, Polycystic kidney dysplasia, Death in childhood |
OMIM:214110 |
Joubert Syndrome 39 |
|
Hypopnea, Polycystic kidney dysplasia |
OMIM:619562 |
Joubert Syndrome 2 |
|
Central apnea, Renal insufficiency, Episodic tachypnea, Renal cyst, Nephronophthisis, Neonatal br... |
OMIM:608091 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira... |
OMIM:615512 |
Coffin-Siris Syndrome 1 |
|
Recurrent respiratory infections, Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hyd... |
OMIM:135900 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood |
OMIM:620278 |
Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Ureterocele |
OMIM:614863 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Hydroureter, Abnormality of the kidney, Abnormality of the uppe... |
ORPHA:2273 |
Baller-Gerold Syndrome |
|
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney |
ORPHA:1225 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Recurrent... |
OMIM:617913 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal hypoplasia, Renal cyst, Respiratory insufficiency, Stillbirth, Pulmonary hypoplasia |
OMIM:616300 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... |
OMIM:613550 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Neurogenic bladder, Urinary incontinence, Rec... |
ORPHA:496641 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Pleural lymphangiectasia, Ectopic kidney, Pulmonary lymphangiectasia, Horseshoe kidney, Vesicoure... |
OMIM:235510 |
Bardet-Biedl Syndrome |
|
Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia |
ORPHA:110 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Hepatomegaly, Renal cyst |
ORPHA:79303 |
Fryns Syndrome |
|
Ureteral duplication, Hypospadias, Renal agenesis, Renal cyst, Stillbirth, Chylothorax, Pulmonary... |
OMIM:229850 |
Fryns Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Pulmonary hypoplasia, Vesicoureteral reflux, Hydroneph... |
ORPHA:2059 |
Meckel Syndrome, Type 4 |
|
Renal cyst |
OMIM:611134 |
Leigh Syndrome |
|
Lacticaciduria, Methylmalonic aciduria, Generalized aminoaciduria, Renal tubular dysfunction, Ren... |
ORPHA:506 |
Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Hydronephrosis, Peripheral pulmonary artery stenosis |
OMIM:613001 |
Tarp Syndrome |
|
Neonatal death, Hydronephrosis, Horseshoe kidney |
OMIM:311900 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Multicystic kidney dysplasia, Fetal megacystis |
ORPHA:73246 |
Cardiac-Urogenital Syndrome |
|
Partial anomalous pulmonary venous return, Enlarged kidney, Scimitar anomaly, Pulmonary hypoplasi... |
OMIM:618280 |
Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis |
ORPHA:3079 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Micropenis, Recurrent upper respiratory tract infections, Hydronephrosis |
OMIM:612513 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Renal insufficiency, Partial anomalous pulmonary venous return, Renal cyst |
OMIM:617478 |
Duane-Radial Ray Syndrome |
|
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... |
OMIM:607323 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Renal cyst |
ORPHA:480536 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... |
ORPHA:2473 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Respiratory failure |
OMIM:616505 |
Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia |
OMIM:619980 |
Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Abnormal lung lobation, Horseshoe kidney, Multiple renal cy... |
ORPHA:99776 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Respiratory failure, 3-Methylglutaconic aciduria, Respiratory insufficiency |
OMIM:618329 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Hepatomegaly, Cardiomegaly, Tachypnea, Anomal... |
ORPHA:555874 |
15Q Overgrowth Syndrome |
|
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Pulmonary arterial hyperten... |
ORPHA:314585 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hepatomegaly, Splenomegaly, Abnormal renal morphology, Pulmonary lymphangiectasia, Hepatosplenome... |
ORPHA:1655 |
Alveolar Echinococcosis |
|
Pulmonary cyst, Pancreatic cysts, Dyspnea, Renal cyst, Cough, Abnormal bladder morphology, Hepati... |
ORPHA:284 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormal lung morphology, Hydronephrosis |
ORPHA:35173 |
Malignant Atrophic Papulosis |
|
Pleural effusion, Abnormality of the lower urinary tract, Respiratory failure |
ORPHA:679 |
Campomelic Dysplasia |
|
Tracheomalacia, Tracheobronchomalacia, Hydronephrosis, Respiratory insufficiency |
ORPHA:140 |
Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Unilateral renal agenesis, Splenomegaly, Asthma, Chronic pu... |
OMIM:188400 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, Hematuri... |
OMIM:243910 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Reduced renal corticomedullary differentiation, Multiple renal ... |
OMIM:618733 |
Stromme Syndrome |
|
Stillbirth, Bilateral renal hypoplasia, Hydronephrosis |
OMIM:243605 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Multicystic kidney dysplasia |
OMIM:618829 |
Cat Eye Syndrome |
|
Renal agenesis, Horseshoe kidney, Total anomalous pulmonary venous return, Vesicoureteral reflux,... |
OMIM:115470 |
Feingold Syndrome Type 1 |
|
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... |
ORPHA:391641 |
Micro Syndrome |
|
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney |
ORPHA:2510 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Bradypnea, Respiratory failure, Death in childhood |
OMIM:617186 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Renal cyst, Horseshoe kidney |
ORPHA:166035 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Left ventricular hypertrophy, Hydron... |
OMIM:611209 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Recurrent urinary tract infections, Recurrent respiratory infections, Splenomegaly,... |
OMIM:612541 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Pulmonary arterial hypertensio... |
OMIM:618454 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Cardiomegaly, Dyspnea, Pulmonary arterial hypertension, Hydronephrosis |
OMIM:614921 |
Visceral Myopathy 1 |
|
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis |
OMIM:155310 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Renal cyst, Hepatomegaly |
ORPHA:488618 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Pneumothorax, Functional abnormality of the bladder, Nephrolithiasis, Horseshoe kidney, Hydroneph... |
ORPHA:2953 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Renal cyst, Hepatomegaly |
OMIM:601539 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney... |
OMIM:267010 |
Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney |
ORPHA:508 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Renal cyst, Renal dysplasia, Respiratory insufficiency |
OMIM:617260 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia |
OMIM:220500 |
Harrod Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2115 |
Helsmoortel-Van Der Aa Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Enlarged kidney, Enuresis n... |
OMIM:615873 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Recurrent respiratory infections, Renal dysplasia, Hydronephrosis |
OMIM:300968 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure |
OMIM:618804 |
Mosaic Trisomy 1 |
|
Renal cortical cysts, Renal cyst, Pulmonary hypoplasia, Pulmonary artery atresia, Micropenis, Pen... |
ORPHA:1692 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2707 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Hydronephrosis, Hepatosplenomegaly |
ORPHA:541423 |
Exstrophy-Epispadias Complex |
|
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... |
ORPHA:322 |
15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... |
DECIPHER:81 |
Melnick-Needles Syndrome |
|
Recurrent respiratory infections, Ureteral stenosis, Stillbirth, Pulmonary arterial hypertension,... |
OMIM:309350 |
Joubert Syndrome 1 |
|
Central apnea, Episodic tachypnea, Renal cyst, Nephropathy, Neonatal breathing dysregulation |
OMIM:213300 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Death in infancy, Hepatomegaly, Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy... |
OMIM:212065 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Ureteral duplication, Hepatomegaly, Recurrent respiratory infections, Pancreatic cysts, Stage 5 c... |
OMIM:266920 |
Alagille Syndrome |
|
Hepatomegaly, Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndrome, Peripheral... |
ORPHA:52 |
2P15P16.1 Microdeletion Syndrome |
|
Recurrent respiratory infections, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261349 |
Mody |
|
Nephropathy, Abnormality of the kidney, Renal cyst, Glycosuria |
ORPHA:552 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Renal cyst |
OMIM:615560 |
Tetraamelia-Multiple Malformations Syndrome |
|
Aplasia/Hypoplasia of the lungs, Multicystic kidney dysplasia, Abnormal lung lobation |
ORPHA:3301 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Hydronephrosis |
ORPHA:210122 |
Teebi-Shaltout Syndrome |
|
Ureteral stenosis, Hydronephrosis, Horseshoe kidney |
OMIM:272950 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
3-hydroxydicarboxylic aciduria, Death in infancy, Hepatomegaly, Apnea, Hypospadias, Splenomegaly,... |
OMIM:252010 |
Joubert Syndrome 14 |
|
Renal cyst |
OMIM:614424 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Neonatal respiratory distress, Hypospadias, Splenomegaly, Abnormal lung lobation, R... |
OMIM:312870 |
Meckel Syndrome 14 |
|
Pneumothorax, Pulmonary hypoplasia, Polycystic kidney dysplasia, Cardiorespiratory arrest |
OMIM:619879 |
Smith-Magenis Syndrome |
|
Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia |
ORPHA:819 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H... |
ORPHA:93111 |
Joubert Syndrome With Hepatic Defect |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Apnea, Splenomegaly, Nephropathy... |
ORPHA:1454 |
Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Bilateral trilobed lung, Ureteral stenosis, Partial anomalous pulmonary ven... |
OMIM:270100 |
Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias |
ORPHA:1358 |
Ventriculomegaly With Cystic Kidney Disease |
|
Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid... |
OMIM:219730 |
Von Hippel-Lindau Syndrome |
|
Pancreatic cysts, Pulmonary capillary hemangiomatosis, Renal cell carcinoma, Multiple renal cysts... |
OMIM:193300 |
Bloom Syndrome |
|
Recurrent urinary tract infections, Pneumonia, Bronchitis, Respiratory tract infection, Chronic p... |
ORPHA:125 |
Otopalatodigital Syndrome Type 2 |
|
Hydronephrosis, Pulmonary hypoplasia, Hypospadias, Ureteral obstruction |
ORPHA:90652 |
Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Horseshoe kidney, Aplasia/Hypoplasia of t... |
ORPHA:2092 |
Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Impaired renal concentrating ability, Stage 5 chronic kidney d... |
OMIM:610188 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Duplicated collecting system, Death in infancy, Hepatomegaly, Bilateral fetal pyelectasis, Respir... |
OMIM:300868 |
Cerebrocostomandibular Syndrome |
|
Tracheomalacia, Death in infancy, Neonatal respiratory distress, Multicystic kidney dysplasia |
ORPHA:1393 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Renal cyst, Horseshoe kidney |
OMIM:250410 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia |
OMIM:617107 |
Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:96061 |
Thrombocytopenia-Absent Radius Syndrome |
|
Death in infancy, Ureteral duplication, Renal malrotation, Pancreatic cysts, Dilatation of the re... |
OMIM:274000 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kid... |
ORPHA:847 |
Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Renal cortical cysts |
OMIM:609180 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Pulmonary arterial hypertension,... |
ORPHA:464738 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias |
ORPHA:2075 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Death in adolescence, Hepa... |
OMIM:614866 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Micropenis, Hydronephrosis |
OMIM:617798 |
Takenouchi-Kosaki Syndrome |
|
Hypospadias, Hydronephrosis, Unilateral renal agenesis |
OMIM:616737 |
Cornelia De Lange Syndrome 1 |
|
Hypospadias, Pneumonia, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral re... |
OMIM:122470 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Asthma, Moderate albuminuria, Hydronephrosis |
OMIM:619269 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi... |
OMIM:600740 |
Pelvis-Shoulder Dysplasia |
|
Hydronephrosis |
ORPHA:2839 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Vesicoureteral reflux, Pleural effusion, Abnormal bladder morphology, Hydronephrosis |
ORPHA:453499 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Cardiomegaly, Tachypnea, Renal cyst, Polycystic ovaries, Cough, Pulmonary edema |
ORPHA:137675 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Renal cyst, Micropenis |
OMIM:257300 |
Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:617557 |
Opitz Gbbb Syndrome |
|
Enlarged ovaries, Hypospadias, Tracheomalacia, Stridor, Abnormality of the urinary system, Vesico... |
ORPHA:2745 |
Tuberous Sclerosis 1 |
|
Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Pulmonary lymphangiomyomatosis |
OMIM:191100 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Stillbirth, Pulmonary hypoplasia, Hydronephrosis, Unilateral renal agenesis |
OMIM:308050 |
2Q37 Microdeletion Syndrome |
|
Tracheomalacia, Multicystic kidney dysplasia, Nephroblastoma |
ORPHA:1001 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Urethral atresia, Pulmonary hypoplasia, Hydronephrosis |
OMIM:271520 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood |
OMIM:610505 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum... |
ORPHA:31204 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Recurrent respiratory infections, Abnormality of the ureter |
ORPHA:3253 |
Atelosteogenesis Type I |
|
Multiple renal cysts, Pulmonary hypoplasia |
ORPHA:1190 |
Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... |
ORPHA:3339 |
8P Inverted Duplication/Deletion Syndrome |
|
Micropenis, Abnormality of the urinary system, Hydronephrosis |
ORPHA:96092 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Pancreatic cysts, Splenomegaly, Renal cyst, Polycystic kidney dysplasia |
OMIM:610199 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... |
ORPHA:2322 |
Tarp Syndrome |
|
Pulmonary hypoplasia, Apnea, Hydronephrosis, Horseshoe kidney |
ORPHA:2886 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:247262 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Hyperechogenic kidneys, Polycystic kidney dysplasia |
OMIM:617866 |
Listeriosis |
|
Respiratory distress, Miscarriage, Pneumonia, Pyelonephritis, Respiratory failure, Acute kidney i... |
ORPHA:533 |
Koolen-De Vries Syndrome |
|
Vesicoureteral reflux, Recurrent urinary tract infections, Hydronephrosis |
OMIM:610443 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:250989 |
Tuberous Sclerosis 2 |
|
Absence of renal corticomedullary differentiation, Renal cyst, Renal cell carcinoma, Renal angiom... |
OMIM:613254 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464311 |
Autosomal Recessive Spastic Paraplegia Type 20 |
|
Hydronephrosis, Dysuria |
ORPHA:101000 |
Thakker-Donnai Syndrome |
|
Hydronephrosis |
ORPHA:1780 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis |
OMIM:618653 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea |
OMIM:617301 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:99880 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Micropenis, Renal agenesis, Hypospadias, Hydronephrosis |
OMIM:301040 |
Nijmegen Breakage Syndrome |
|
Recurrent urinary tract infections, Sinusitis, Recurrent pneumonia, Bronchiectasis, Hydronephrosi... |
OMIM:251260 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Hydronephrosis |
OMIM:302960 |
Mitochondrial Trifunctional Protein Deficiency |
|
Left ventricular hypertrophy, Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Respiratory failure |
ORPHA:280210 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Asthma, Stridor, Ureteropelvic junction obstruction, Hydronephrosis |
OMIM:616973 |
Infantile Krabbe Disease |
|
Respiratory distress, Respiratory failure |
ORPHA:206436 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinos... |
ORPHA:143 |
Pagod Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Pulmonary artery hypopl... |
ORPHA:991 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Respiratory failure, Stillbirth |
OMIM:259720 |
Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:444072 |
Smith-Lemli-Opitz Syndrome |
|
Ureteropelvic junction obstruction, Death in infancy, Duplicated collecting system, Hepatomegaly,... |
OMIM:270400 |
Epidermal Nevus Syndrome |
|
Polycystic kidney dysplasia |
ORPHA:35125 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis |
ORPHA:464306 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Respiratory failure |
ORPHA:3240 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Recurrent urinary tract infections, Tachypnea, Abnormal pulmonary interstitial morphology, Respir... |
OMIM:613658 |
Acrorenal-Mandibular Syndrome |
|
Renal agenesis, Abnormality of the ureter, Aplasia of the bladder, Pulmonary hypoplasia, Polycyst... |
OMIM:200980 |
Trisomy 8P |
|
Fetal pyelectasis, Recurrent upper respiratory tract infections, Abnormal lung lobation, Nephroca... |
ORPHA:264450 |
Meckel Syndrome |
|
Pancreatic cysts, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia |
ORPHA:564 |
Poland Syndrome |
|
Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Ureterocel... |
ORPHA:2911 |
Phelan-Mcdermid Syndrome |
|
Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia |
OMIM:606232 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Hypospadias, Recurrent pneumonia, Abnormality of the ureter, Nephrolithiasi... |
ORPHA:798 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Abnormal penis morphology, Pneumothorax, Renal hypoplasia, Respiratory fail... |
ORPHA:3404 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Micropenis, Hypospadias, Hydronephrosis, Respiratory insufficiency |
ORPHA:163979 |
Holoprosencephaly 3 |
|
Hydronephrosis |
OMIM:142945 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Respiratory failure |
ORPHA:88618 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Pulmonary artery stenosis, Cardiorespiratory arrest, Respiratory f... |
ORPHA:3342 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Hypoplasia of penis, Hypospadias, Dyspnea, Epispadias, Respiratory failure |
ORPHA:2554 |
Bickerstaff Brainstem Encephalitis |
|
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... |
ORPHA:79138 |
Nijmegen Breakage Syndrome |
|
Recurrent sinopulmonary infections, Recurrent respiratory infections, Recurrent pneumonia, Pollak... |
ORPHA:647 |
Knobloch Syndrome |
|
Vesicoureteral reflux, Bifid ureter |
ORPHA:1571 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Abnormal lu... |
ORPHA:2538 |
Peutz-Jeghers Syndrome |
|
Ovarian cyst, Abnormality of the ureter, Bladder polyp |
OMIM:175200 |
Congenital Fiber-Type Disproportion Myopathy |
|
Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:2020 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia |
ORPHA:261197 |
Au-Kline Syndrome |
|
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis |
OMIM:616580 |
Dubowitz Syndrome |
|
Asthma, Hypospadias, Hydronephrosis, Respiratory insufficiency |
ORPHA:235 |
Attenuated Familial Adenomatous Polyposis |
|
Multiple renal cysts |
ORPHA:220460 |
Distal Deletion 12Q |
|
Ectopic kidney, Congenital hypertrophy of left ventricle, Polycystic kidney dysplasia, Vesicouret... |
ORPHA:96149 |
Vater/Vacterl Association |
|
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... |
OMIM:192350 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Hypoplasia of penis, Recurrent respiratory infections, Multicystic kidney dyspl... |
ORPHA:1507 |
Eec Syndrome |
|
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:1896 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... |
ORPHA:818 |
Cardiofaciocutaneous Syndrome 1 |
|
Splenomegaly, Hydronephrosis |
OMIM:115150 |
Microphthalmia, Syndromic 1 |
|
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Pulmonary hypoplasia |
OMIM:309800 |
7Q11.23 Microduplication Syndrome |
|
Hypospadias, Unilateral renal agenesis, Enuresis, Tracheomalacia, Hydronephrosis |
ORPHA:96121 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Hypospadias, Stillbirth, Pulmonary hypoplasia, Neonatal death |
OMIM:275210 |
Mpdu1-Cdg |
|
Renal cortical cysts |
ORPHA:79323 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Recurrent respiratory infections, Renal insufficiency, Hypospadias, Apnea, Tachypnea, Renal corti... |
ORPHA:397715 |
Early Infantile Epileptic Encephalopathy |
|
Micropenis, Renal dysplasia, Ureterocele |
ORPHA:1934 |
Occipital Horn Syndrome |
|
Hydronephrosis, Bladder diverticulum, Ureteral obstruction |
OMIM:304150 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Respiratory failure |
ORPHA:2912 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Duplicated collecting system, Hepatomegaly, Pulmonary artery stenosis, Ureteropelvic junction obs... |
OMIM:280000 |
D-Bifunctional Protein Deficiency |
|
Splenomegaly, Hepatomegaly, Renal cyst |
OMIM:261515 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Hypospadias, Recurrent upper respirat... |
OMIM:114290 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure |
OMIM:616538 |
Jacobsen Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Recurrent respiratory infections, Hydronephrosis |
ORPHA:2308 |
Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Distal renal tubular acidosis, Proximal renal tubular acidosis, Nephrolithiasis, Re... |
ORPHA:2785 |
Osteogenesis Imperfecta, Type Vii |
|
Death in infancy, Absent pulmonary artery, Hydronephrosis, Hypoplastic pulmonary veins |
OMIM:610682 |
Frontometaphyseal Dysplasia |
|
Hydronephrosis, Urethral stenosis, Ureteral obstruction |
ORPHA:1826 |
Cardiofaciocutaneous Syndrome |
|
Hydronephrosis |
ORPHA:1340 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication |
OMIM:267750 |
Cousin Syndrome |
|
Hydronephrosis |
OMIM:260660 |
Lethal Acantholytic Erosive Disorder |
|
Respiratory failure, Cardiomegaly |
ORPHA:158687 |
Trisomy 18 |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:3380 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Respiratory insufficie... |
ORPHA:93271 |
Craniofacioskeletal Syndrome |
|
Hypospadias, Hydronephrosis |
OMIM:300712 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Total anomalous pulmonary venous return, Hypospadias, Hydronephrosis, Unilateral renal agenesis |
ORPHA:487796 |
Cerebrocostomandibular Syndrome |
|
Neonatal respiratory distress, Horseshoe kidney, Renal cyst, Ectopic kidney |
OMIM:117650 |
Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorm... |
ORPHA:709 |
Orofaciodigital Syndrome Type 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis |
ORPHA:2750 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Micropenis, Pulmonary hypoplasia, Polycystic kidney dysplasia |
OMIM:616546 |
Floating-Harbor Syndrome |
|
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... |
ORPHA:2044 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication |
OMIM:268310 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Fetal pyelecta... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Fetal pyelecta... |
ORPHA:363958 |
Schwartz-Jampel Syndrome |
|
Death in infancy, Apnea, Abnormality of the ureter, Nephrolithiasis, Respiratory insufficiency, A... |
ORPHA:800 |
Proboscis Lateralis |
|
Ureteral agenesis, Duplication of renal pelvis, Unilateral renal agenesis |
ORPHA:141099 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Hypospadias, Ureterocele |
OMIM:616734 |
Costello Syndrome |
|
Renal insufficiency, Pneumothorax, Respiratory insufficiency, Respiratory failure, Tracheomalacia |
OMIM:218040 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Ureteral duplication, Pulmonary artery stenosis |
ORPHA:2255 |
Spondylocarpotarsal Synostosis Syndrome |
|
Restrictive ventilatory defect, Renal cyst |
OMIM:272460 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Vesicoureteral reflux, Hydronephrosis, Nocturnal hypoventilation |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Vesicoureteral reflux, Hydronephrosis, Nocturnal hypoventilation |
ORPHA:352665 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Ast... |
ORPHA:353281 |
Apert Syndrome |
|
Hydronephrosis |
OMIM:101200 |
Mosaic Variegated Aneuploidy Syndrome |
|
Abnormal lung lobation, Multicystic kidney dysplasia, Apnea, Nephroblastoma |
ORPHA:1052 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... |
OMIM:118450 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Vesicoureteral reflux, Hypospadias, Renal cyst |
OMIM:616975 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Recurrent ... |
OMIM:616268 |
Hajdu-Cheney Syndrome |
|
Hypospadias, Polycystic kidney dysplasia, Renal cyst |
OMIM:102500 |
Monosomy 22Q13.3 |
|
Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis |
ORPHA:48652 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:615287 |
3Mc Syndrome 1 |
|
Hydronephrosis |
OMIM:257920 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Abnormal penis morphology, Hypospadias, Dyspnea, Epispadias, Respiratory fa... |
ORPHA:2556 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Renal hypoplasia, Respiratory insufficiency, Renal cyst, Stillbirth, Polycystic... |
OMIM:210710 |
Tetrasomy 9P |
|
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Pulm... |
ORPHA:3310 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Pulmonary artery stenosis, Glycosuria |
OMIM:600001 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Pulmonary hypoplasia, Micropenis, Hydronephrosis |
ORPHA:83617 |
Caroli Disease |
|
Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia |
ORPHA:53035 |
Ileal Neuroendocrine Tumor |
|
Hydronephrosis |
ORPHA:100078 |
Syndromic Diarrhea |
|
Hepatomegaly, Splenomegaly, Renal hypoplasia, Polycystic kidney dysplasia, Peripheral pulmonary a... |
ORPHA:84064 |
Sotos Syndrome |
|
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... |
ORPHA:821 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... |
OMIM:619522 |
Robinow Syndrome |
|
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:97360 |
Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Respiratory insufficiency, Respiratory failure, Stillbirth, Hydronephrosis |
OMIM:304120 |
Cranioectodermal Dysplasia 2 |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Recurrent pneumonia, Renal cyst, Left ventricula... |
OMIM:613610 |
Chime Syndrome |
|
Hydronephrosis, Abnormality of the kidney |
ORPHA:3474 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Micropenis, Pulmonary hypoplasia, Polycystic kidney dysplasia |
OMIM:263520 |
Meckel Syndrome, Type 1 |
|
Hypoplasia of the bladder, Renal agenesis, Splenomegaly, Abnormality of the ureter, Pulmonary hyp... |
OMIM:249000 |
Hydrolethalus Syndrome 1 |
|
Abnormal lung lobation, Stillbirth, Hypospadias, Hydronephrosis |
OMIM:236680 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Splenomegaly, Abnormal lung morphology, Respiratory insufficiency, Hepatosplenomega... |
ORPHA:646 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Bilateral renal dysplasia, Unilateral renal agenesis, Horseshoe kidney,... |
ORPHA:500150 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Apnea, Breathing dysregulation, Nephrolithiasis, Aspiration pneumonia, Vesicoure... |
ORPHA:438213 |
Split Cord Malformation |
|
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... |
ORPHA:573278 |
Okamoto Syndrome |
|
Urinary incontinence, Splenomegaly, Unilateral renal hypoplasia, Ureteropelvic junction obstructi... |
ORPHA:2729 |
Pearson Syndrome |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Lacticaciduria, Renal cyst, Glycosuria |
ORPHA:699 |
Charge Syndrome |
|
Respiratory insufficiency, Horseshoe kidney, Vesicoureteral reflux, Micropenis, Hydronephrosis |
ORPHA:138 |
Abetalipoproteinemia |
|
Hepatomegaly, Respiratory failure, Cardiomegaly |
ORPHA:14 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney |
OMIM:305600 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Nephrotic syndrome, Pneumothorax, Hydronephrosis |
OMIM:601776 |
Cutis Marmorata Telangiectatica Congenita |
|
Displacement of the urethral meatus, Multicystic kidney dysplasia |
ORPHA:1556 |
Osteopathia Striata With Cranial Sclerosis |
|
Tracheomalacia, Multicystic kidney dysplasia, Apnea |
OMIM:300373 |
Von Hippel-Lindau Disease |
|
Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst... |
ORPHA:892 |
Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
OMIM:600383 |
Restrictive Dermopathy |
|
Ureteral duplication, Hypospadias, Pulmonary hypoplasia |
ORPHA:1662 |
Kabuki Syndrome 1 |
|
Crossed fused renal ectopia, Micropenis, Ureteropelvic junction obstruction, Recurrent aspiration... |
OMIM:147920 |
C Syndrome |
|
Hepatomegaly, Renal cortical cysts |
OMIM:211750 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Abn... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Hypospadias, Pneumonia, Abn... |
ORPHA:353277 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Vesicoureteral reflux, Renal cortical cysts |
OMIM:618548 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Recurrent urinary tract infections, Pulmonary edema, Hypospadias, Pneumonia, Cardio... |
OMIM:619991 |
Orofaciodigital Syndrome I |
|
Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts |
OMIM:311200 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Dark urine, Hepatomegaly, Renal insufficiency, Recurrent respiratory infections, Pulmonary artery... |
OMIM:619534 |
Distal Deletion 15Q |
|
Multicystic kidney dysplasia, Hypospadias, Abnormal localization of kidney, Pulmonary hypoplasia,... |
ORPHA:1596 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Hepatomegaly, Miscarriage, Pulmonary artery stenosis, Hepatosplenomegaly, Restrictive ventilatory... |
ORPHA:96334 |
Floating-Harbor Syndrome |
|
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Epidid... |
OMIM:136140 |
Fraser Syndrome |
|
Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Abnormal lung l... |
ORPHA:2052 |
Gabriele-De Vries Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:506358 |
Doors Syndrome |
|
Respiratory distress, Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnorm... |
ORPHA:79500 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Hypospadias, Respiratory tract infection, Recurrent upper respiratory tract... |
OMIM:180849 |
Hajdu-Cheney Syndrome |
|
Hepatomegaly, Recurrent respiratory infections, Hypospadias, Splenomegaly, Multiple renal cysts |
ORPHA:955 |
Caroli Syndrome |
|
Hepatomegaly, Abnormality of the kidney, Polycystic kidney dysplasia |
ORPHA:480520 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Hydronephrosis |
ORPHA:1606 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Hypospadias, Renal cyst |
ORPHA:495875 |
Trisomy 10P |
|
Multiple renal cysts, Abnormality of the kidney |
ORPHA:171929 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Asthma, Recurrent pneumonia, Hydronephrosis, Recurrent bronchitis |
OMIM:620330 |
Lacrimoauriculodentodigital Syndrome |
|
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis |
ORPHA:2363 |
Peters-Plus Syndrome |
|
Hydronephrosis, Ureteral duplication, Hypospadias, Renal hypoplasia |
OMIM:261540 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal age... |
OMIM:308205 |
C Syndrome |
|
Death in infancy, Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia |
ORPHA:1308 |
Myhre Syndrome |
|
Respiratory failure, Respiratory insufficiency |
OMIM:139210 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Hydronephrosis, Abnormal renal morphology, Renal hypoplasia/aplasia |
ORPHA:363700 |
Steinert Myotonic Dystrophy |
|
Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat... |
ORPHA:273 |
Williams Syndrome |
|
Hypoplasia of penis, Cardiomegaly, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesi... |
ORPHA:904 |
Genitopatellar Syndrome |
|
Micropenis, Pulmonary hypoplasia, Multicystic kidney dysplasia, Hydronephrosis |
OMIM:606170 |
Proteus Syndrome |
|
Pulmonary embolism, Enlarged polycystic ovaries, Splenomegaly, Long penis, Abnormal lung lobation... |
ORPHA:744 |
Roberts Syndrome |
|
Long penis, Polycystic kidney dysplasia |
ORPHA:3103 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Micropenis, Hydronephrosis, Renal duplication |
OMIM:180700 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... |
ORPHA:857 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Cyst of the ductus choledochus, Hydronephrosis, Recurrent upper and lower r... |
ORPHA:480880 |
Femoral-Facial Syndrome |
|
Micropenis, Renal agenesis, Polycystic kidney dysplasia, Abnormal renal collecting system morphology |
OMIM:134780 |
Townes-Brocks Syndrome 1 |
|
Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Renal hypoplasia,... |
OMIM:107480 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Hypospadias, Wide penis, Vesicoureteral reflux, Dilatation of... |
ORPHA:3455 |
Viss Syndrome |
|
Dyspnea, Asthma, Pneumothorax, Pulmonary artery aneurysm, Pulmonary arterial hypertension, Emphys... |
OMIM:619472 |
Charge Syndrome |
|
Renal agenesis, Renal hypoplasia, Horseshoe kidney, Pulmonary artery atresia, Micropenis, Hydrone... |
OMIM:214800 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Pulmonary artery sling, Chordee,... |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Pulmonary artery sling, Duplicat... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Pulmo... |
ORPHA:2152 |
Cornelia De Lange Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Vesicoureter... |
ORPHA:199 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Hypospadias, Urethrovaginal fistula, Splenomegaly, Death in childhood, Micropenis, ... |
OMIM:243800 |
Branchiooculofacial Syndrome |
|
Renal agenesis, Hypospadias, Renal cyst |
OMIM:113620 |
Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Pulmonary hypoplasia, Vesicouretera... |
OMIM:164210 |
Roberts-Sc Phocomelia Syndrome |
|
Hypospadias, Long penis, Horseshoe kidney, Stillbirth, Polycystic kidney dysplasia |
OMIM:268300 |
Pallister-Killian Syndrome |
|
Hypospadias, Renal cyst, Apneic episodes in infancy, Stillbirth, Pulmonary hypoplasia, Renal dysp... |
OMIM:601803 |
Pmm2-Cdg |
|
Respiratory distress, Proteinuria, Nephrotic syndrome, Multiple renal cysts, Aspiration pneumonia... |
ORPHA:79318 |