| Ureter, Cancer Of |
|
Neoplasm of the ureter |
OMIM:191600 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Abnormality of th... |
ORPHA:2838 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Vesicoureteral Reflux 3 |
|
Hydroureter, Vesicoureteral reflux, Hydronephrosis |
OMIM:613674 |
| Ureterocele |
|
Duplicated collecting system, Ureterocele |
OMIM:191650 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Congenital megaureter, Hydroureter, Hyperechogenic kidneys, Renal dysplasia, Ureteropelvic juncti... |
OMIM:143400 |
| Congenital Primary Megaureter |
|
Nephrolithiasis, Congenital megaureter, Abnormal penis morphology, Abnormality of the upper urina... |
ORPHA:617 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hydroureter, Respiratory failure, Death in infancy, Hydronephrosis |
OMIM:618240 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydroureter, Hydronephrosis |
OMIM:264140 |
| Dysmyelination With Jaundice |
|
Hydroureter, Hypoplasia of penis, Hydronephrosis |
OMIM:224250 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Duplicated collecting system, Hydronephrosis |
OMIM:163850 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the upper urinary tract, Abnormality of the ureter |
ORPHA:3266 |
| Urofacial Syndrome 1 |
|
Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral valve, Urethral obstruc... |
OMIM:236730 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter, Respiratory insufficiency |
ORPHA:2487 |
| Ring Chromosome 8 Syndrome |
|
Abnormality of the ureter, Hydronephrosis |
ORPHA:1450 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Renal agenesis, Ureteral dysgenesis, Ureteral agenesis |
OMIM:274265 |
| Thymic Aplasia With Fetal Death |
|
Renal agenesis, Stillbirth, Ureteral agenesis |
OMIM:274210 |
| Renal Hypodysplasia/Aplasia 3 |
|
Renal agenesis, Multicystic kidney dysplasia, Renal dysplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:617805 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydroureter, Hydronephrosis |
OMIM:598500 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Fetal megacystis, Hydroureter |
OMIM:249210 |
| Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Renal agenesis, Abnormality of the kidney, Renal dysplasia, Renal cyst, Ren... |
OMIM:615993 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Nephrolithiasis, Hydroureter, Vesicoureteral reflux |
OMIM:617219 |
| Renal Dysplasia |
|
Enlarged kidney, Thickened glomerular basement membrane, Congenital posterior urethral valve, Rec... |
ORPHA:93108 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Abnormality of the upper urinary tract, Hydroureter, Hypoplasia of penis, Abnormality of the bladder |
ORPHA:2547 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal cyst, Vesicoureteral reflux, Ectopic kidney, Hydronephrosis |
OMIM:618270 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydroureter, Neonatal death, Hydronephrosis, Fetal megacystis, Megacystis |
OMIM:619362 |
| Bronchopulmonary Dysplasia |
|
Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ... |
ORPHA:70589 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| Prune Belly Syndrome |
|
Hydroureter, Congenital posterior urethral valve, Hydronephrosis, Urethral valve |
OMIM:100100 |
| Prune Belly Syndrome |
|
Urogenital sinus anomaly, Abnormality of the ureter, Recurrent urinary tract infections, Hydroure... |
ORPHA:2970 |
| 46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Hydroureter, Abnormality of the urethra, Mult... |
ORPHA:2973 |
| Bladder Exstrophy And Epispadias Complex |
|
Unilateral renal agenesis, Hydroureter, Bladder exstrophy, Horseshoe kidney, Epispadias |
OMIM:600057 |
| Macdermot-Winter Syndrome |
|
Death in infancy, Hydronephrosis |
OMIM:247990 |
| Pulmonary Nodular Lymphoid Hyperplasia |
|
Dyspnea, Ground-glass opacification, Cough, Nodular pattern on pulmonary HRCT |
ORPHA:60026 |
| Pulmonary Blastoma |
|
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough |
ORPHA:64741 |
| Renal Hypoplasia |
|
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
| Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Recurrent pneumonia, Bronchiectasis, Neonatal... |
OMIM:615294 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral atresia, Death in infancy |
OMIM:618845 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Micropenis, Hypospadias, Glandular hypospadias, Neonatal death, Penile hypo... |
OMIM:300219 |
| Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, 2,8-dihydroxyadenine crystalluria, Urolithiasis, Hematuria, Oliguria, Renal insu... |
OMIM:614723 |
| Hinman Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Enuresis, Vesicoureteral... |
ORPHA:84085 |
| Urofacial Syndrome 2 |
|
Bladder trabeculation, Spastic/hyperactive bladder, Recurrent urinary tract infections, Urinary u... |
OMIM:615112 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis |
OMIM:619466 |
| Vesicoureteral Reflux, X-Linked |
|
Vesicoureteral reflux |
OMIM:314550 |
| Vesicoureteral Reflux 1 |
|
Vesicoureteral reflux |
OMIM:193000 |
| Atresia Of Urethra |
|
Hydroureter, Recurrent urinary tract infections, Bladder fistula, Renal dysplasia, Renal insuffic... |
ORPHA:105 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias, Abnormality of the ureter, Respirator... |
ORPHA:1046 |
| Asbestos Intoxication |
|
Interlobular septal thickening, Oxygen desaturation on exertion, Reduced vital capacity, Hypoxemi... |
ORPHA:2302 |
| Nephronophthisis-Like Nephropathy 2 |
|
Pulmonary infiltrates, Polyuria, Cough, Periglomerular fibrosis, Renal insufficiency, Tubular lum... |
OMIM:619468 |
| Wolfram Syndrome 1 |
|
Tremor, Hydroureter, Neurogenic bladder, Hydronephrosis |
OMIM:222300 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Ureteral atresia, Hydronephrosis |
OMIM:183802 |
| Severe Acute Respiratory Syndrome |
|
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... |
ORPHA:140896 |
| Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Tachypnea, Atelectasis, Neonatal respiratory distress, Dyspnea |
OMIM:267450 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Oxygen desaturation on exertion, Pulmonary infiltrates, Asthma, Hypoxemia, ... |
OMIM:610978 |
| Mucus Inspissation Of Respiratory Tract |
|
Bronchiectasis, Atelectasis, Chronic sinusitis, Chronic pulmonary obstruction |
OMIM:253240 |
| Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... |
ORPHA:60032 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Megacystis, Hydroureter, Hydronephrosis |
OMIM:619431 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Stage 2 chronic kidney disease, Hypospadias, Recurrent urinary tract infections, Hydronephrosis, ... |
OMIM:191800 |
| Ciliary Dyskinesia, Primary, 29 |
|
Bronchiectasis, Decreased nasal nitric oxide, Atelectasis, Ciliary dyskinesia |
OMIM:615872 |
| Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Pulmonary infiltrates, Hypoxemia, Nodular pattern on pulmonary HR... |
ORPHA:79126 |
| Meconium Aspiration Syndrome |
|
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Atelectasis, Abnormal pulmonary ... |
ORPHA:70588 |
| Congenital Megacalycosis |
|
Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
| Noonan Syndrome 9 |
|
Hydroureter |
OMIM:616559 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Ureteropelvic junction obstruction, Vesicoureteral reflux, Stage 5 chronic kidney disease |
OMIM:610805 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Neonatal death, Ureteral agenesis, Renal dysplasia, Renal cyst, Renal hypoplasia, Stillbirth |
OMIM:236500 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Hydroureter, Multicystic kidney dysplasia, Hypoperistalsis, Death in infancy, Megacystis |
ORPHA:2241 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Cough, Tubulointerstitial fibrosis, Respiratory failure |
OMIM:263000 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Asthma, Nonproductive cough, Crackles, Parenchymal consolidation, Wheezing, Atelectasis, Abnormal... |
ORPHA:2902 |
| X-Linked Intellectual Disability, Schimke Type |
|
Choreoathetosis, Vesicoureteral reflux, Hydronephrosis |
ORPHA:85285 |
| Ciliary Dyskinesia, Primary, 20 |
|
Respiratory insufficiency due to defective ciliary clearance, Cough, Recurrent sinusitis, Atelect... |
OMIM:615067 |
| Cardiac Valvular Dysplasia 1 |
|
Hydroureter, Hydronephrosis, Urethral diverticulum |
OMIM:212093 |
| Nephrogenic Diabetes Insipidus |
|
Hydroureter, Hyposthenuria, Functional abnormality of the bladder, Renal insufficiency, Enuresis ... |
ORPHA:223 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Ciliary Dyskinesia, Primary, 33 |
|
Cough, Chronic rhinitis, Atelectasis, Ciliary dyskinesia, Recurrent pneumonia, Bronchiectasis |
OMIM:616726 |
| Malaria |
|
Respiratory distress, Acute kidney injury |
ORPHA:673 |
| Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Nephrotic range proteinuria, Macroscopic hematuria, Enlarged... |
OMIM:613496 |
| Fanconi Anemia, Complementation Group O |
|
Miscarriage, Neonatal death, Renal cyst, Death in infancy, Hydronephrosis, Stage 5 chronic kidney... |
OMIM:613390 |
| Familial Nasal Acilia |
|
Respiratory distress, Chronic rhinitis, Atelectasis, Chronic sinusitis, Bronchiectasis, Dyspnea |
ORPHA:922 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Hydronephrosis |
OMIM:617093 |
| Immunodeficiency 95 |
|
Respiratory distress, Recurrent viral pneumonia, Respiratory failure, Ground-glass opacification |
OMIM:619773 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter |
OMIM:616367 |
| Cloacal Exstrophy |
|
Renal hypoplasia/aplasia, Hypoplasia of penis, Ureterocele, Hydroureter, Bladder exstrophy, Urete... |
ORPHA:93929 |
| Codas Syndrome |
|
Hydroureter |
ORPHA:1458 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Increased level of methylsuccinic acid in urine, Dystonia, Ethylmalonic aci... |
ORPHA:26792 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Renal agenesis, Ectopic kidney, Ureteral duplication, Horseshoe kidney |
OMIM:602200 |
| Anti-Glomerular Basement Membrane Disease |
|
Pulmonary infiltrates, Respiratory insufficiency, Hematuria, Cough, Renal insufficiency, Proteinu... |
ORPHA:375 |
| Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Atelectasis, Chronic sinusitis |
OMIM:300455 |
| Ochoa Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Ve... |
ORPHA:2704 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Myopathy, Congenital, Progressive, With Scoliosis |
|
Respiratory insufficiency due to muscle weakness, Respiratory insufficiency, Renal atrophy, Hydro... |
OMIM:618578 |
| Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Abnormal localization of kidney, Hydronephrosis |
ORPHA:195 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Dysuria, Respiratory distress, Ureterocele, Aplasia/Hypoplasia of the bladder, Ureteral obstructi... |
ORPHA:79404 |
| Caudal Duplication |
|
Abnormal penis morphology, Renal hypoplasia/aplasia, Ureteral duplication |
ORPHA:1756 |
| Diffuse Alveolar Hemorrhage |
|
Pulmonary infiltrates, Irregular septal thickening on pulmonary HRCT, Airway obstruction, Pulmona... |
ORPHA:90060 |
| Tracheobronchopathia Osteochondroplastica |
|
Respiratory insufficiency, Wheezing, Atelectasis, Upper airway obstruction, Pneumonia, Recurrent ... |
ORPHA:3348 |
| Czeizel-Losonci Syndrome |
|
Abnormality of the urinary system, Hydronephrosis, Ureteral agenesis, Congenital megaureter |
ORPHA:2437 |
| Familial Visceral Myopathy |
|
Hydroureter, Vesicoureteral reflux, Megacystis |
ORPHA:2604 |
| Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
| Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Abnormality of the ureter, Abnormality of the urethra, Renal dysplas... |
ORPHA:2842 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Hypospadias |
OMIM:300934 |
| Avian Influenza |
|
Respiratory distress, Pulmonary infiltrates, Miscarriage, Nonproductive cough, Ground-glass opaci... |
ORPHA:454836 |
| Posterior Urethral Valve |
|
Dysuria, Unilateral renal dysplasia, Chronic kidney disease, Recurrent urinary tract infections, ... |
ORPHA:93110 |
| Microphthalmia, Lenz Type |
|
Hypospadias, Hydroureter, Renal hypoplasia/aplasia, Hydronephrosis |
ORPHA:568 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Respiratory distress, Apnea, Hypoxemia, Nodular pattern on pulmonary HRCT, ... |
OMIM:610921 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Multiple renal cysts |
ORPHA:66637 |
| Joubert Syndrome 35 |
|
Sleep apnea, Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal fibrosis, Hy... |
OMIM:618161 |
| 8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
| Infant Acute Respiratory Distress Syndrome |
|
Tachypnea, Atelectasis, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring |
ORPHA:70587 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:618265 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Abnormal renal corticomedullary differentiation, Respiratory distress, Renal dysplasia |
OMIM:616733 |
| Primary Hyperoxaluria Type 2 |
|
Nephrolithiasis, Ureteral obstruction, Recurrent urinary tract infections, Renal insufficiency, H... |
ORPHA:93599 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Pulmonary infiltrates, Respiratory insufficiency, Cough, Restrictive ventilatory defect, Abnormal... |
ORPHA:724 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter |
ORPHA:1035 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Renal tubular dysfunction, Respiratory distress, Choreoathetosis, Renal insufficiency, Dystonia |
ORPHA:289916 |
| Trisomy 1Q |
|
Multicystic kidney dysplasia, Hydronephrosis, Congenital megaureter |
ORPHA:261344 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Aminoaciduria, Proximal tubulopathy |
OMIM:612075 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Organic aciduria, Respiratory distress |
OMIM:614741 |
| Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Ground-glass opacificati... |
ORPHA:91359 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... |
ORPHA:1303 |
| Chand Syndrome |
|
Atelectasis, Hydroureter |
ORPHA:1401 |
| Lymphangioleiomyomatosis |
|
Abnormal urinary color, Pulmonary infiltrates, Chylothorax, Renal neoplasm, Renal angiomyolipoma,... |
ORPHA:538 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pulmonary infiltrates, Nodular pattern on pulmonary HRCT, Crackles, Reticular pattern on pulmonar... |
ORPHA:99931 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory insufficiency, Neonatal death, Renal cyst, Renal hypoplasia, Respiratory failure |
OMIM:228940 |
| Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Organic aciduria, Neonatal death, Respiratory insufficiency due to muscle weakness, Death in infancy |
OMIM:617184 |
| Histiocytosis, Familial Lipochrome |
|
Pulmonary infiltrates |
OMIM:235900 |
| Marden-Walker Syndrome |
|
Renal hypoplasia/aplasia, Abnormal penis morphology, Abnormality of the upper urinary tract, Abno... |
ORPHA:2461 |
| Xanthinuria, Type I |
|
Xanthine nephrolithiasis, Pyelonephritis, Xanthinuria, Hydronephrosis |
OMIM:278300 |
| Carpenter Syndrome 1 |
|
Hydroureter, Hydronephrosis |
OMIM:201000 |
| Pallister-Hall Syndrome |
|
Distal urethral duplication, Micropenis, Hydroureter, Neonatal death, Renal dysplasia, Renal cyst... |
OMIM:146510 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Tremor |
OMIM:619099 |
| Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil... |
OMIM:619751 |
| Mckusick-Kaufman Syndrome |
|
Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula, Hydronephrosis |
OMIM:236700 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Death in childhood, Micropenis |
OMIM:615597 |
| 6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
| Penile Agenesis |
|
Urethral atresia, male, Urethral fistula, Bilateral renal hypoplasia, Hydroureter, Bilateral rena... |
ORPHA:49 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Apnea, Hydronephrosis |
OMIM:619797 |
| Caudal Regression Syndrome |
|
Renal agenesis, Abnormality of the ureter, Ureteral duplication, Renal insufficiency, Ectopic kid... |
ORPHA:3027 |
| Diabetic Embryopathy |
|
Renal hypoplasia/aplasia, Ureteral duplication, Hydronephrosis, Micropenis |
ORPHA:1926 |
| Meckel Syndrome 12 |
|
Renal agenesis, Ureteral hypoplasia, Renal hypoplasia |
OMIM:616258 |
| Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Ground-glass opacificat... |
ORPHA:1302 |
| Bor Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Ureteropelvic junction obstruction, Renal... |
ORPHA:107 |
| Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder, Neonatal death |
OMIM:300076 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Respiratory distress, Crackles, Acute infectious pneumonia, Tachypnea, Resp... |
ORPHA:264675 |
| Raine Syndrome |
|
Hydroureter, Neonatal death, Hydronephrosis, Death in infancy |
OMIM:259775 |
| Frontometaphyseal Dysplasia 1 |
|
Hydroureter, Stridor, Hydronephrosis |
OMIM:305620 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Mesangial hypercellularity, Decreased DLCO, Cough, Tachypnea, Crescentic glomerulonephritis, Rest... |
OMIM:616414 |
| Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Exertional dyspnea, Atelectasis |
ORPHA:254361 |
| Ellis Van Creveld Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the kidney, Hydroureter, Abnormality of the ureter, Hypo... |
ORPHA:289 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Renal agenesis, Renal hypoplasia, Hydronephrosis, Obstructive sleep apnea |
OMIM:618494 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Aspergillosis |
|
Asthma, Pulmonary infiltrates, Sinusitis, Chronic pulmonary obstruction, Diffuse reticular or fin... |
ORPHA:1163 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Renal cyst |
OMIM:174050 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2522 |
| Silver-Russell Syndrome 1 |
|
Hypospadias, Abnormality of the ureter, Nephroblastoma, Urethral valve, Congenital posterior uret... |
OMIM:180860 |
| Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Polyuria, Hydronephrosis |
OMIM:304900 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Dystonia, Choreoathetosis, Renal insufficiency |
ORPHA:79312 |
| Bladder Exstrophy |
|
Hypoplasia of penis, Abnormality of the ureter, Recurrent urinary tract infections, Bladder exstr... |
ORPHA:93930 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pulmonary opa... |
ORPHA:411703 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Abnormality of the upper urinary tract, Hydroureter, Hydronephrosis |
ORPHA:2995 |
| Renal Agenesis |
|
Renal agenesis, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal age... |
ORPHA:411709 |
| Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Dystonia, Cough |
ORPHA:77260 |
| Faciocardiorenal Syndrome |
|
Hydroureter, Horseshoe kidney |
OMIM:227280 |
| Mercury Poisoning |
|
Respiratory distress, Interstitial pneumonitis, Tremor, Acute kidney injury, Dyspnea, Respiratory... |
ORPHA:330021 |
| Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Hydronephrosis |
OMIM:607598 |
| Bronchogenic Cyst |
|
Cough, Atelectasis, Abnormal pulmonary thoracic imaging finding, Pneumonia, Dyspnea |
ORPHA:2357 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Aplasia of the bladder, Ureterocele, Renal duplication, Hematuria, Urethral stricture, Renal dysp... |
ORPHA:79403 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Unilateral renal dysplasia, Congenital megaureter, Abnormal renal collecting system morphology, H... |
ORPHA:280633 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Apnea, Long-chain dicarboxylic aciduria, Respiratory insufficiency, Ureteral duplication, Renal d... |
OMIM:608836 |
| White-Kernohan Syndrome |
|
Hydroureter, Horseshoe kidney, Hydronephrosis, Obstructive sleep apnea |
OMIM:619426 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
| Hereditary Xanthinuria |
|
Crystalluria, Recurrent urinary tract infections, Xanthinuria, Hematuria, Acute kidney injury, Hy... |
ORPHA:3467 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
| Oeis Complex |
|
Vesicovaginal fistula, Micropenis, Renal agenesis, Hydroureter, Bladder exstrophy, Duplicated col... |
OMIM:258040 |
| Lujo Hemorrhagic Fever |
|
Respiratory distress, Resting tremor, Nonproductive cough, Crackles, Oliguria, Atelectasis, Renal... |
ORPHA:319213 |
| Urban-Rogers-Meyer Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis |
ORPHA:3409 |
| Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Crackles, Ground-glass opacification, Cough, Decreased DLCO, Intr... |
OMIM:619611 |
| Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pulmonary infiltrates, Nonproductive cough, Pleural empyema, Acute infectio... |
ORPHA:36238 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Reduced FEV1/FVC ratio, Chronic pulmonary obstruction, Hypoxemia, Diffuse reticular or finely nod... |
ORPHA:79127 |
| Vici Syndrome |
|
Ureteral atresia, Renal tubular acidosis, Death in infancy |
ORPHA:1493 |
| Endove Syndrome, Limb-Only Type |
|
Vesicoureteral reflux, Hydronephrosis |
OMIM:619217 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Hypoxemia, Cystic pattern on pulmonary HRCT, Respiratory insufficiency, Int... |
OMIM:610913 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Tremor, Hydronephrosis |
OMIM:618060 |
| Stankiewicz-Isidor Syndrome |
|
Hypospadias, Ureteral duplication, Micropenis |
OMIM:617516 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
| Axial Mesodermal Dysplasia Spectrum |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Abnormality of the urinary system, Renal cys... |
ORPHA:1834 |
| Stt3B-Cdg |
|
Respiratory distress, Micropenis |
ORPHA:370924 |
| Desmoid Tumor |
|
Abnormality of the upper urinary tract, Hydronephrosis |
ORPHA:873 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia of the bladder, Ureterocele, Abnormality of the urinary system, Abnormality of the urethr... |
ORPHA:158684 |
| Laryngotracheal Angioma |
|
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor |
ORPHA:137935 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Renal cortical cysts, Glycosuria, Neonatal death, Generalized aminoaciduria... |
OMIM:231680 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis |
OMIM:613735 |
| Hereditary Orotic Aciduria |
|
Abnormality of the ureter, Oroticaciduria, Aminoaciduria, Orotic acid crystalluria |
ORPHA:30 |
| Tetraploidy |
|
Renal hypoplasia/aplasia, Hydronephrosis |
ORPHA:3305 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy |
OMIM:604377 |
| Cockayne Syndrome Type 3 |
|
Unilateral renal agenesis, Intention tremor, Hydroureter, Urinary retention, Renal hypoplasia, Re... |
ORPHA:90324 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Renal cyst, Hydronephrosis, Renal dysplasia, Micropenis |
OMIM:615287 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal tubular dysfunction, Respiratory distress, Aminoaciduria, Death in childhood, Glycosuria, R... |
OMIM:220110 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect |
OMIM:614399 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Bladder diverticulum, Ureterocele, Micropenis, Renal agenesis, Hydroureter, Renal dysplasia, Dupl... |
OMIM:604292 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Central sleep apnea, Congenital megaureter, Abnormality of the urinary system, Hypercalciuria, Re... |
ORPHA:369837 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Abnormality of the ureter, Renal hypoplasia/aplasia |
ORPHA:1770 |
| Lymphoid Interstitial Pneumonia |
|
Pulmonary venous hypertension, Hypoxemia, Crackles, Parenchymal consolidation, Ground-glass opaci... |
ORPHA:79128 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Opisthotonus, Micropenis, Hypospadias, Hydroureter, Ureteral stenosis, Hydronephrosis |
OMIM:269150 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter |
OMIM:610759 |
| Multiple Carboxylase Deficiency |
|
Organic aciduria, Respiratory distress, Tachypnea |
ORPHA:148 |
| Primary Ciliary Dyskinesia |
|
Airway obstruction, Wheezing, Chronic rhinitis, Atelectasis, Chronic sinusitis, Productive cough,... |
ORPHA:244 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
| Idiopathic Pulmonary Fibrosis |
|
Crackles, Reticular pattern on pulmonary HRCT, Cough, Ground-glass opacification, Bronchiectasis,... |
ORPHA:2032 |
| 17Q12 Microdeletion Syndrome |
|
Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal insufficiency, Ureterocele |
ORPHA:261265 |
| Trisomy 13 |
|
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis |
ORPHA:3378 |
| Distal Trisomy 6P |
|
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis |
ORPHA:1745 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Hydroureter, Neonatal death, Dilatation of the renal pelvis, Hydronephrosis, Neonata... |
OMIM:265380 |
| Tetanus |
|
Respiratory distress, Opisthotonus, Tachypnea, Tremor, Elevated urinary epinephrine, Elevated uri... |
ORPHA:3299 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Absence of renal corticomedullary differentiation, Micropenis, Unilateral renal agenesis, Renal a... |
OMIM:617641 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Hydronephrosis |
OMIM:616449 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication |
OMIM:270420 |
| Endove Syndrome, Limb-Brain Type |
|
Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis |
OMIM:619218 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Tremor, Dystonia |
ORPHA:240085 |
| Nephrolithiasis, Calcium Oxalate |
|
Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox... |
OMIM:167030 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Ureteral duplication, Duplication of renal pelvis, Hand tremor |
ORPHA:457212 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Renal insufficiency, Hydronephrosis |
OMIM:611209 |
| Pleural Mesothelioma |
|
Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology |
ORPHA:50251 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral hypoplasia, Bladder trabeculation, Ureteral duplication, Renal dysplasia, Tremor, Choreo... |
OMIM:614080 |
| Radio-Renal Syndrome |
|
Respiratory distress, Renal hypoplasia/aplasia, Chylothorax, Renal agenesis, Multicystic kidney d... |
ORPHA:3015 |
| Aredyld Syndrome |
|
Abnormality of the ureter |
ORPHA:1133 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Polycystic kidney dysplasia, Death in infancy, Nephronophthisis |
OMIM:184260 |
| Simpson-Golabi-Behmel Syndrome |
|
Hypoplasia of penis, Hypospadias, Hydroureter, Nephroblastoma, Ureteral duplication, Multicystic ... |
ORPHA:373 |
| Arthrogryposis Multiplex Congenita 6 |
|
Hypospadias, Death in childhood, Neonatal death, Death in infancy, Respiratory failure |
OMIM:619334 |
| Acute Lung Injury |
|
Respiratory distress, Pulmonary infiltrates, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respirator... |
ORPHA:178320 |
| Netherton Syndrome |
|
Asthma, Aminoaciduria, Ectopic kidney, Hydronephrosis, Emphysema |
ORPHA:634 |
| Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Primary Pulmonary Hypoplasia |
|
Apnea, Asthma, Ureteral stenosis, Tachypnea, Pneumothorax, Abnormal breath sound, Restrictive ven... |
ORPHA:2257 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Bladder diverticulum, Ureterocele, Micropenis, Renal agenesis, Hydroureter, Renal dysplasia, Dupl... |
OMIM:129900 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... |
ORPHA:254875 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Abnormal renal physiology, Tremor, Proteinuria, Microscopic hematuria, Hemo... |
OMIM:274150 |
| Chronic Beryllium Disease |
|
Reduced FEV1/FVC ratio, Lymphocytic interstitial pneumonia, Respiratory insufficiency, Ground-gla... |
ORPHA:133 |
| Scedosporiosis |
|
Sinusitis, Apical pulmonary opacity, Pleural empyema, Abnormal renal morphology, Cough, Pneumonia... |
ORPHA:449280 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Relapsing Polychondritis |
|
Hematuria, Abnormal pattern of respiration, Cough, Atelectasis, Proteinuria, Renal insufficiency,... |
ORPHA:728 |
| Short-Rib Thoracic Dysplasia 12 |
|
Respiratory insufficiency, Cystic renal dysplasia, Neonatal death, Atelectasis, Renal hypoplasia |
OMIM:269860 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
| Waardenburg Syndrome Type 3 |
|
Atelectasis, Tracheomalacia |
ORPHA:896 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
| Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis |
OMIM:610733 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Abnormal ureter morphology, Nephrotic range proteinuria, Urethritis, Inte... |
ORPHA:449395 |
| Webb-Dattani Syndrome |
|
Vesicoureteral reflux, Neurogenic bladder, Hydronephrosis |
OMIM:615926 |
| Tularemia |
|
Respiratory distress, Pulmonary infiltrates, Cough, Abnormal pulmonary thoracic imaging finding, ... |
ORPHA:3392 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormality of the upper urinary tract, Hydroureter, Abnormality of the kidney, Abnormality of th... |
ORPHA:2636 |
| Williams-Beuren Region Duplication Syndrome |
|
Unilateral renal agenesis, Hydronephrosis |
OMIM:609757 |
| Pulmonary Alveolar Microlithiasis |
|
Interlobular septal thickening, Oxygen desaturation on exertion, Pulmonary infiltrates, Nonproduc... |
ORPHA:60025 |
| Koolen-De Vries Syndrome |
|
Hypospadias, Renal duplication, Ureteral duplication, Hydronephrosis, Vesicoureteral reflux |
ORPHA:96169 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Interlobular septal thickening, Apnea, Neonatal death, Ground-glass opacification, Tachypnea, Dea... |
OMIM:265120 |
| Goodpasture Syndrome |
|
Cylindruria, Pulmonary infiltrates, Increased DLCO, Nodular pattern on pulmonary HRCT, Macroscopi... |
OMIM:233450 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Sleep apnea, Oligosacchariduria, Respiratory insufficiency, Orthopnea, Atel... |
ORPHA:365 |
| Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis |
OMIM:179613 |
| Zygomycosis |
|
Pulmonary infiltrates, Sinusitis, Nephritis, Air crescent sign, Parenchymal consolidation, Acute ... |
ORPHA:73263 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Unilateral renal agenesis, Hydroureter, Bilateral renal agenesis |
OMIM:619194 |
| Ciliary Dyskinesia, Primary, 1 |
|
Chronic rhinitis, Atelectasis, Ciliary dyskinesia, Chronic sinusitis, Pneumonia, Bronchiectasis, ... |
OMIM:244400 |
| Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia, Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux |
ORPHA:93260 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Hypospadias, Abnormality of the ureter, Respiratory insufficiency |
ORPHA:2311 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Neonatal death, Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Renal insufficienc... |
OMIM:208540 |
| Hardikar Syndrome |
|
Hydroureter, Recurrent urinary tract infections, Hypoplasia of the bladder, Bladder exstrophy, Re... |
OMIM:301068 |
| Holocarboxylase Synthetase Deficiency |
|
Organic aciduria, Respiratory distress, Tachypnea |
ORPHA:79242 |
| Pneumocystosis |
|
Hypoxemia, Nonproductive cough, Respiratory insufficiency, Interstitial pneumonitis, Acute infect... |
ORPHA:723 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Peutz-Jeghers Syndrome |
|
Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
| Joubert Syndrome 37 |
|
Hydronephrosis, Micropenis |
OMIM:619185 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Hypospadias, Pulmonary arterial hypertension, Opisthotonus |
OMIM:619272 |
| Farber Disease |
|
Respiratory distress, Diffuse reticular or finely nodular infiltrations, Nodular pattern on pulmo... |
ORPHA:333 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Hypospadias, Hyperuricosuria, Urolithiasis, Death in childhood, Renal insufficiency, Uric acid ne... |
OMIM:300661 |
| Melnick-Needles Syndrome |
|
Respiratory insufficiency, Vesicoureteral reflux, Hydronephrosis |
ORPHA:2484 |
| Toluene Embryopathy |
|
Abnormal localization of kidney, Hydronephrosis |
ORPHA:1920 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress |
OMIM:615042 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Nephrogenic rest, Tracheomalacia, Respiratory insufficiency, Cystic renal d... |
OMIM:608022 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hypoplasia of penis, Hydronephrosis |
ORPHA:2083 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Tremor, Focal dystonia |
ORPHA:240103 |
| Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Asthma, Intention tremor, Hypospadias, Choreoathetosis, Respiratory failure... |
ORPHA:209905 |
| 46,Xy Sex Reversal 4 |
|
Ureteropelvic junction obstruction, Hydronephrosis, Renal dysplasia |
OMIM:154230 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydronephrosis |
OMIM:220210 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Pulmonary infiltrates, Nephrotic syndrome, Interstitial pneumonitis, Cough, Tubulointerstitial ne... |
ORPHA:139402 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... |
ORPHA:254864 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Ureteral triplication, Hydronephrosis |
OMIM:104350 |
| Igg4-Related Aortitis |
|
Asthma, Hydronephrosis |
ORPHA:449400 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Methylmalonic aciduria, Tubulointerstitial nephritis, Stage 5 chronic kidne... |
OMIM:251000 |
| Fanconi Anemia |
|
Renal hypoplasia/aplasia, Abnormal preputium morphology, Hypospadias, Abnormality of the urinary ... |
ORPHA:84 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary infiltrates, Oliguria, Renal insufficiency, Dyspnea, Pulmonary arterial hypertension |
ORPHA:220393 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Torticollis, Respiratory distress, Renal neoplasm, Tracheomalacia, Repeated pneumothoraces, Respi... |
ORPHA:536467 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Aminoaciduria, Hydronephrosis |
OMIM:617913 |
| Scalp-Ear-Nipple Syndrome |
|
Abnormality of the kidney, Recurrent urinary tract infections, Ureteral duplication, Pyelonephrit... |
ORPHA:2036 |
| Nipah Virus Disease |
|
Respiratory distress, Tremor, Cough |
ORPHA:99825 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Neonatal respiratory distress, Dystonia, Hydronephrosis |
ORPHA:457193 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Interlobular septal thickening, Respiratory insufficiency, Ground-glass opacification, Dyspnea, E... |
OMIM:614370 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Respiratory distress, Paradoxical respiration, Craniofacial dystonia |
OMIM:620011 |
| Leigh Syndrome With Cardiomyopathy |
|
Respiratory distress, Apnea, Renal tubular acidosis, Abnormal renal tubule morphology, Renal agen... |
ORPHA:70474 |
| 22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis |
ORPHA:1727 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Nephrotic syndrome, Nephritis, Renal tubular atrophy, Death in childhood, E... |
OMIM:617303 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Episodic tachypnea, Increased urinary glycerol, Apneic episodes in infancy,... |
ORPHA:348 |
| Zellweger Syndrome |
|
Hypospadias, Respiratory insufficiency, Multicystic kidney dysplasia, Death in infancy, Hydroneph... |
ORPHA:912 |
| Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea, Dystonia |
ORPHA:79097 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
| Sarcoidosis, Susceptibility To, 2 |
|
Bronchiectasis, Pulmonary infiltrates, Hypoxemia, Restrictive ventilatory defect, Emphysema, Pneu... |
OMIM:612387 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Micropenis, Tracheomalacia, Hypospadias, Renal cyst, Renal insufficiency, Hy... |
ORPHA:261494 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Dysuria, Nephrotic syndrome, Hematuria, Membranous nephropathy, Renovascular hypertension, Ureter... |
ORPHA:49041 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Pleural effusion, Hydronephrosis, Micropenis |
OMIM:616897 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:488613 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Laryngotracheomalacia, Renal cyst, Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux, Micro... |
OMIM:618454 |
| 9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:531151 |
| Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Bronchiectasis, Bifid ureter, Vesicoureteral reflux, Ureteral duplication |
OMIM:601347 |
| Diphallia |
|
Distal urethral duplication, Hypospadias, Ureteral duplication, Renal duplication, Bladder exstro... |
ORPHA:227 |
| Chromosome 17Q12 Deletion Syndrome |
|
Unilateral renal agenesis, Recurrent urinary tract infections, Hypoplasia of the bladder, Multicy... |
OMIM:614527 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Trisomy 20P |
|
Abnormality of the kidney, Abnormality of the ureter, Hypospadias, Multiple renal cysts, Abnormal... |
ORPHA:261318 |
| Suleiman-El-Hattab Syndrome |
|
Hydronephrosis |
OMIM:618950 |
| Niemann-Pick Disease, Type B |
|
Dyspnea, Decreased DLCO, Diffuse reticular or finely nodular infiltrations |
OMIM:607616 |
| Legionnaires Disease |
|
Pulmonary infiltrates, Respiratory insufficiency, Hematuria, Cough, Renal insufficiency, Restrict... |
ORPHA:549 |
| Oromandibular Dystonia |
|
Torticollis, Respiratory distress, Lingual dystonia, Blepharospasm, Laryngeal dystonia, Limb dyst... |
ORPHA:93958 |
| Baller-Gerold Syndrome |
|
Abnormality of the ureter, Vesicoureteral reflux, Abnormal localization of kidney, Hydronephrosis |
ORPHA:1225 |
| Myopathy And Diabetes Mellitus |
|
Respiratory distress |
ORPHA:2596 |
| Smith-Magenis Syndrome |
|
Abnormality of the ureter, Renal hypoplasia/aplasia, Abnormal localization of kidney |
ORPHA:819 |
| Granulomatosis With Polyangiitis |
|
Pulmonary infiltrates, Sinusitis, Chronic pulmonary obstruction, Respiratory insufficiency, Urete... |
ORPHA:900 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Nephrolithiasis, Oligosacchariduria, Aminoaciduria, Abnormal renal tubule morphology, Proximal re... |
ORPHA:534 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Atelectasis, Cough |
ORPHA:2314 |
| Exstrophy-Epispadias Complex |
|
Bladder duplication, Cystocele, Abnormality of the kidney, Abnormality of the ureter, Bladder fis... |
ORPHA:322 |
| Toriello-Lacassie-Droste Syndrome |
|
Abnormal penis morphology, Hypospadias, Abnormality of the ureter, Abnormality of the bladder, Ep... |
ORPHA:3339 |
| Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Abnormality of the kidney, Abnormality of the ureter, Wh... |
ORPHA:141127 |
| Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
Respiratory insufficiency, Ureteropelvic junction obstruction, Renal hypoplasia, Hydronephrosis |
OMIM:618975 |
| Cystic Echinococcosis |
|
Asthma, Renal cyst, Abnormal pulmonary thoracic imaging finding, Membranous nephropathy |
ORPHA:400 |
| Peroxisome Biogenesis Disorder 4B |
|
Ureterocele |
OMIM:614863 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Decreased DLCO, Ta... |
OMIM:300770 |
| Alport Syndrome |
|
Glomerular C3 deposition, Hematuria, Thickened glomerular basement membrane, Proteinuria, Thin gl... |
ORPHA:63 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory insufficiency, Atelectasis, Aspiration, Hypoventilation, Intercostal muscle weakness,... |
ORPHA:258 |
| Dextrocardia |
|
Abnormality of the ureter, Abnormal renal morphology |
ORPHA:1666 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Pulmonary infiltrates, Interstitial pneumonitis, Chronic lung disease, Tachypnea, Spontaneous neo... |
ORPHA:217563 |
| Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
| Distal Tetrasomy 15Q |
|
Abnormality of the kidney, Nephroblastoma, Polycystic kidney dysplasia, Horseshoe kidney, Hydrone... |
ORPHA:314588 |
| Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cough, Pleural effusion, Pulmonary arterial ... |
ORPHA:2414 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Micropenis, Hypospadias, Duplicated collecting system, Hydronephrosis, Vesicoureteral reflux |
OMIM:301056 |
| Cocaine Intoxication |
|
Respiratory distress, Pulmonary infiltrates, Hematuria, Tachypnea, Pneumothorax, Tremor, Tubuloin... |
ORPHA:90068 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Death in childhood, Respiratory insufficiency, Tachypnea, Atelectasis, Respiratory failure, Dystonia |
OMIM:618278 |
| Johanson-Blizzard Syndrome |
|
Hypospadias, Hypoplasia of penis, Hydronephrosis, Death in infancy |
ORPHA:2315 |
| Vacterl/Vater Association |
|
Hypoplasia of penis, Renal agenesis, Hypospadias, Abnormality of the urethra, Multicystic kidney ... |
ORPHA:887 |
| Alagille Syndrome |
|
Abnormality of the ureter, Nephrotic syndrome, Renal hypoplasia/aplasia |
ORPHA:52 |
| Beckwith-Wiedemann Syndrome |
|
Nephrolithiasis, Sleep apnea, Congenital megaureter, Nephroblastoma, Ureteral duplication, Nephro... |
ORPHA:116 |
| Fusariosis |
|
Pulmonary infiltrates, Sinusitis, Air crescent sign, Abnormality of the kidney, Parenchymal conso... |
ORPHA:228119 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Multiple renal cysts, Reduced renal corticomedullary differentiation, Aspir... |
OMIM:618733 |
| Kury-Isidor Syndrome |
|
Hydronephrosis |
OMIM:619762 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Recurrent pneumonia, Hydronephrosis |
OMIM:619179 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Hypoplasia of penis |
ORPHA:990 |
| Moebius Syndrome |
|
Respiratory distress, Micropenis |
OMIM:157900 |
| 3C Syndrome |
|
Hypospadias, Hypoplasia of penis, Hydronephrosis, Death in infancy |
ORPHA:7 |
| Trisomy 17P |
|
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral stenosis, Hydronephrosis, Urethral valve |
ORPHA:261290 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
| Majeed Syndrome |
|
Pulmonary infiltrates, Cough, Proteinuria, Glomerulopathy, Microscopic hematuria |
ORPHA:77297 |
| Zaki Syndrome |
|
Renal agenesis, Hydronephrosis |
OMIM:619648 |
| Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Tremor, Ketonuria, Methylmalonic aciduria |
OMIM:251100 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Opisthotonus, Tremor, Choreoathetosis, 3-Methylglutaconic aciduria, Recurre... |
OMIM:616271 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Unilateral renal agenesis, Renal dysplasia, Polycystic kidney dysplasia, Renal insufficiency, Hyd... |
ORPHA:2237 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Asthma, Pulmonary infiltrates, Sinusitis, Respiratory insufficiency, Hematuria, Cough, Tubulointe... |
ORPHA:183 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation |
ORPHA:596 |
| Primary Dystonia, Dyt4 Type |
|
Torticollis, Respiratory distress, Blepharospasm, Laryngeal dystonia, Upper limb postural tremor,... |
ORPHA:98805 |
| Genitopatellar Syndrome |
|
Apnea, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:85201 |
| Visceral Myopathy 1 |
|
Megacystis, Urinary retention, Vesicoureteral reflux, Hydronephrosis |
OMIM:155310 |
| Intellectual Disability, Buenos-Aires Type |
|
Hydronephrosis |
ORPHA:3079 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Hydronephrosis, Micropenis |
ORPHA:364028 |
| Al-Gazali Syndrome |
|
Recurrent pneumonia, Hydronephrosis |
OMIM:609465 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough |
ORPHA:86812 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormality of the upper urinary tract, Hydroureter, Abnormality of the kidney, Hydronephrosis |
ORPHA:2273 |
| Pulmonary Hemosiderosis |
|
Respiratory insufficiency, Transient pulmonary infiltrates |
OMIM:178550 |
| Adult Acute Respiratory Distress Syndrome |
|
Abnormal blood gas level, Pulmonary infiltrates, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure |
ORPHA:70578 |
| Feingold Syndrome Type 1 |
|
Nephritis, Abnormality of the kidney, Renal dysplasia, Horseshoe kidney, Renal insufficiency, Hyd... |
ORPHA:391641 |
| 15Q Overgrowth Syndrome |
|
Nephroblastoma, Abnormal renal morphology, Horseshoe kidney, Ureterovesical stenosis, Hydronephro... |
ORPHA:314585 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Respiratory distress, Neonatal death, Renal dysplasia, Renal hypoplasia, Pneumothorax, Respirator... |
OMIM:266910 |
| Laryngeal Web, Familial |
|
Respiratory distress, Stridor |
OMIM:150360 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Micropenis |
ORPHA:2519 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
| Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis |
OMIM:311900 |
| Microphthalmia, Syndromic 9 |
|
Respiratory insufficiency, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, Pelvic kidney, Ren... |
OMIM:601186 |
| Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Cough, Upper airway obstruction, Dyspnea, Stridor |
ORPHA:142 |
| Coffin-Siris Syndrome 1 |
|
Hypospadias, Hydroureter, Renal hypoplasia, Ectopic kidney, Hydronephrosis |
OMIM:135900 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Hydronephrosis |
ORPHA:210122 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Absence of renal corticomedullary differentiation, Neonatal death, Tubulointerstitial fibrosis, E... |
OMIM:263200 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Renal duplication, Ectopic kidney |
OMIM:613309 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Abnormal renal physiology, Nephropathy, Hematuria, Thickened glomerular basement membrane, Renal ... |
OMIM:308940 |
| Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Microlissencephaly-Micromelia Syndrome |
|
Fetal pyelectasis, Respiratory distress |
ORPHA:50810 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| 22Q11.2 Deletion Syndrome |
|
Asthma, Chronic pulmonary obstruction, Hypospadias, Multiple renal cysts, Atelectasis, Polycystic... |
ORPHA:567 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter |
ORPHA:3253 |
| Branchio-Oculo-Facial Syndrome |
|
Renal agenesis, Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:1297 |
| Thauvin-Robinet-Faivre Syndrome |
|
Nephroblastoma, Bifid ureter, Renal dysplasia, Renal cyst, Renal malrotation |
OMIM:617107 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Hydronephrosis, Micropenis |
OMIM:612513 |
| Duane-Radial Ray Syndrome |
|
Renal agenesis, Crossed fused renal ectopia, Renal hypoplasia, Horseshoe kidney, Hydronephrosis, ... |
OMIM:607323 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Tremor |
OMIM:608799 |
| Teebi-Shaltout Syndrome |
|
Horseshoe kidney, Ureteral stenosis, Hydronephrosis |
OMIM:272950 |
| Micro Syndrome |
|
Abnormal localization of kidney, Hypoplasia of penis, Hydronephrosis |
ORPHA:2510 |
| Eosinophilia, Familial |
|
Pulmonary infiltrates |
OMIM:131400 |
| Campomelic Dysplasia |
|
Tracheobronchomalacia, Respiratory insufficiency, Hydronephrosis, Tracheomalacia |
ORPHA:140 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Death in infancy, Hydronephrosis, Micropenis |
OMIM:235255 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Horseshoe kidney, Ectopic kidney, Pleural effusion, Hydronephrosis, Vesicoureteral reflux |
OMIM:235510 |
| Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Chronic kidney disease, Decreased glomerular filtration rate, Epistaxis, Gl... |
ORPHA:340 |
| Peutz-Jeghers Syndrome |
|
Bladder polyp, Abnormality of the ureter |
OMIM:175200 |
| Erdheim-Chester Disease |
|
Dysuria, Cough, Renal insufficiency, Hydronephrosis, Pleural effusion, Dyspnea |
ORPHA:35687 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Respiratory insufficiency, Neurogenic bladder, Hydronephrosis |
OMIM:608779 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Oligosacchariduria, Respiratory insufficiency, Respiratory failure requirin... |
ORPHA:308552 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Hydronephrosis, Renal dysplasia |
OMIM:300968 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
| Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Hydronephrosis |
OMIM:613001 |
| Alg9-Cdg |
|
Torticollis, Asthma, Ureteral hypoplasia, Hypoplasia of the bladder, Enlarged kidney, Hydronephro... |
ORPHA:79328 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Hypospadias, Death in childhood, Hydronephrosis, Neonatal respiratory distress, Re... |
OMIM:214100 |
| Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis |
OMIM:618460 |
| Hypereosinophilic Syndrome, Idiopathic |
|
Pulmonary infiltrates |
OMIM:607685 |
| Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Ketonuria, Methylmalonic aciduria |
OMIM:251110 |
| Stromme Syndrome |
|
Bilateral renal hypoplasia, Stillbirth, Hydronephrosis |
OMIM:243605 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia |
OMIM:606763 |
| Digeorge Syndrome |
|
Asthma, Chronic pulmonary obstruction, Unilateral renal agenesis, Renal dysplasia, Recurrent sinu... |
OMIM:188400 |
| Cat Eye Syndrome |
|
Renal agenesis, Vesicoureteral reflux, Horseshoe kidney, Hydronephrosis |
OMIM:115470 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Nephrocalcinosis, Neonatal respiratory distress |
OMIM:260400 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dyspnea, Pulmonary arterial hypertension, Hydronephrosis |
OMIM:614921 |
| Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:96061 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory insufficiency, Nocturnal hypoventilation, Dyspnea, Stridor |
OMIM:211530 |
| Fryns Syndrome |
|
Hypospadias, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis |
ORPHA:2059 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Nephrolithiasis, Functional abnormality of the bladder, Horseshoe kidney, Hydronephrosis, Pneumot... |
ORPHA:2953 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Bladder diverticulum, Emphysema, Hydronephrosis, Tracheomalacia |
OMIM:613177 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Duplicated collecting system, Hydronephrosis |
ORPHA:541423 |
| Early Infantile Epileptic Encephalopathy |
|
Micropenis, Ureterocele, Renal dysplasia, Tremor, Choreoathetosis, Dystonia |
ORPHA:1934 |
| Spinocerebellar Ataxia, X-Linked 3 |
|
Episodic respiratory distress, Intention tremor, Episodic hypoventilation, Head titubation, Death... |
OMIM:301790 |
| Melnick-Needles Syndrome |
|
Pulmonary arterial hypertension, Stillbirth, Ureteral stenosis, Hydronephrosis |
OMIM:309350 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
| 15q26 overgrowth syndrome |
|
Renal agenesis, Abnormality of the kidney, Polycystic kidney dysplasia, Horseshoe kidney, Hydrone... |
DECIPHER:81 |
| Castleman Disease |
|
Ureteral obstruction, Hematuria, Cough, Renal insufficiency, Dyspnea |
ORPHA:160 |
| Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Respiratory insufficiency, Respiratory failure, Hydronephrosis, Stillbirth |
OMIM:304120 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
| Carey-Fineman-Ziter Syndrome |
|
Glandular hypospadias, Hydronephrosis |
ORPHA:1358 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Exaggerated startle response |
OMIM:618201 |
| Congenital Tracheomalacia |
|
Apnea, Tracheomalacia, Decreased peak expiratory flow, Respiratory insufficiency, Neonatal respir... |
ORPHA:95430 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
| Fryns Syndrome |
|
Chylothorax, Renal agenesis, Hypospadias, Ureteral duplication, Renal cyst, Hydronephrosis, Still... |
OMIM:229850 |
| Pulmonary Capillary Hemangiomatosis |
|
Interlobular septal thickening, Hypoxemia, Hemothorax, Elevated pulmonary artery pressure, Ground... |
ORPHA:199241 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hypoplasia of penis, Abnormality of the kidney, Recurrent urinary tract infections, Death in infa... |
ORPHA:847 |
| Mckusick-Kaufman Syndrome |
|
Urogenital sinus anomaly, Renal hypoplasia/aplasia, Glandular hypospadias, Urethral stricture, Mu... |
ORPHA:2473 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis |
ORPHA:35173 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Hypospadias, Neonatal respiratory distress, Tracheomalacia |
OMIM:217980 |
| Granulomatous Disease, Chronic, X-Linked |
|
Cough, Atelectasis, Air bronchogram, Recurrent pneumonia, Pleural effusion |
OMIM:306400 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Asthma, Hydronephrosis, Moderate albuminuria |
OMIM:619269 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure, Hydronephrosis |
ORPHA:254528 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Multiple renal cysts, Renal dysplasia, Horseshoe kidney, Hydronephrosis |
ORPHA:99776 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Airway obstruction, Nephrotic syndrome, Heparan sulfate excretion in urine,... |
ORPHA:505248 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Asthma, Neurogenic bladder, Ureteropelvic junction obstruction, Hydronephrosis, Limb dystonia, St... |
OMIM:616973 |
| Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Recurrent urinary tract infections, Tachypnea, Renal insufficien... |
ORPHA:36234 |
| Immunodeficiency 27A |
|
Pulmonary infiltrates, Abnormal bronchus physiology, Pneumonia |
OMIM:209950 |
| Episodic Ataxia Type 1 |
|
Respiratory distress, Choreoathetosis |
ORPHA:37612 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Hydronephrosis, Micropenis |
OMIM:617798 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Ureteropelvic junction obstruction, Duplicated collecting system, Hydronephrosis |
OMIM:280000 |
| Colchicine Poisoning |
|
Oliguria, Respiratory distress, Renal insufficiency, Cardiorespiratory arrest |
ORPHA:31824 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Respiratory insufficiency, Death in adolescence, Tremor, Death in infancy, ... |
OMIM:615512 |
| Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Ureteral obstruction, Hydronephrosis |
ORPHA:90652 |
| Knobloch Syndrome |
|
Vesicoureteral reflux, Bifid ureter |
ORPHA:1571 |
| Neuroblastoma, Susceptibility To, 1 |
|
Abnormality of urine catecholamine level, Elevated urinary vanillylmandelic acid, Elevated urinar... |
OMIM:256700 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
| Takenouchi-Kosaki Syndrome |
|
Unilateral renal agenesis, Hypospadias, Hydronephrosis |
OMIM:616737 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Horseshoe kidney, Death in infancy, Dilatation of the renal pelvis, Axial m... |
OMIM:274000 |
| Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
| Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Episodic respiratory distress, Hematuria, Tachypnea, Renal insufficien... |
ORPHA:31826 |
| Slc35A1-Cdg |
|
Respiratory distress, Hypoxemia, Pneumonia |
ORPHA:238459 |
| Pelvis-Shoulder Dysplasia |
|
Hydronephrosis |
ORPHA:2839 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Abnormality of the urinary system, Hydronephrosis, Micropenis |
ORPHA:96092 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress |
OMIM:618426 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Respiratory acidosis, Nephrotic syndrome, Renal tubular atrophy, Decreased ... |
OMIM:614748 |
| Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
| Waldenström Macroglobulinemia |
|
Pulmonary infiltrates, Respiratory insufficiency, Renal insufficiency, Pleural effusion, Epistaxis |
ORPHA:33226 |
| Kabuki Syndrome |
|
Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias, Crossed fused renal ectopia, Ureterop... |
ORPHA:2322 |
| Occipital Horn Syndrome |
|
Bladder diverticulum, Ureteral obstruction, Hydronephrosis |
OMIM:304150 |
| Thakker-Donnai Syndrome |
|
Hydronephrosis |
ORPHA:1780 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Hydronephrosis |
ORPHA:247262 |
| 2P15P16.1 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis |
ORPHA:261349 |
| Whim Syndrome |
|
Sinusitis, Atelectasis, Recurrent pneumonia, Pneumonia, Bronchiectasis |
ORPHA:51636 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Episodic respiratory distress, Abnormal renal tubule morphology, Multiple glomerular cysts... |
ORPHA:255210 |
| 1Q21.1 Microdeletion Syndrome |
|
Vesicoureteral reflux, Hydronephrosis |
ORPHA:250989 |
| Biotinidase Deficiency |
|
Organic aciduria, Apnea, Hyperventilation, Respiratory distress |
ORPHA:79241 |
| Sepsis In Premature Infants |
|
Abnormal respiratory system physiology, Reversible renal failure, Oliguria, Abnormal mucociliary ... |
ORPHA:90051 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Male urethral meatus stenosis, Hypospadias, Recurrent pneumonia, Hydronephrosis, Pulmonary arteri... |
ORPHA:464738 |
| Schwartz-Jampel Syndrome |
|
Nephrolithiasis, Apnea, Blepharospasm, Abnormality of the urinary system, Abnormality of the uret... |
ORPHA:800 |
| Coccidioidomycosis |
|
Respiratory distress, Pulmonary infiltrates, Abnormality of the kidney, Pleural empyema, Parenchy... |
ORPHA:228123 |
| Toxic Epidermal Necrolysis |
|
Dysuria, Respiratory distress, Abnormality of the urethra, Cough, Renal insufficiency, Restrictiv... |
ORPHA:537 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormality of bladder morphology, Pleural effusion, Vesicoureteral reflux, Hydronephrosis |
ORPHA:453499 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Dysuria, Hydronephrosis |
ORPHA:101000 |
| Cerebellar-Facial-Dental Syndrome |
|
Ureteropelvic junction obstruction, Hydronephrosis |
ORPHA:444072 |
| Nijmegen Breakage Syndrome |
|
Sinusitis, Recurrent urinary tract infections, Recurrent pneumonia, Hydronephrosis, Bronchiectasis |
OMIM:251260 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hydronephrosis, Abnormal renal morphology, Micropenis |
ORPHA:1655 |
| Acrorenal-Mandibular Syndrome |
|
Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis |
OMIM:200980 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Nephronophthisis, Reduced renal corticomedullary differentiation, Ureteral duplication, Renal dys... |
OMIM:266920 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Hydronephrosis |
OMIM:302960 |
| Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis |
OMIM:610443 |
| Opitz Gbbb Syndrome |
|
Tracheomalacia, Hypospadias, Abnormality of the urinary system, Stridor, Recurrent aspiration pne... |
ORPHA:2745 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Abnormal renal collecting system morphology, Hypospadias, Methylmalo... |
ORPHA:17 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Renal agenesis, Hypospadias, Hydronephrosis, Micropenis |
OMIM:301040 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Pelvic kidney, Vesicoureteral reflux, Hydronephrosis, Micropenis |
OMIM:618653 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Chordee, Exaggerated startle response, Renal agenesis, Hypospadias, Grade III vesicoureteral refl... |
OMIM:619522 |
| Synaptic Congenital Myasthenic Syndro |
