| Ureter, Cancer Of |
|
Neoplasm of the ureter |
OMIM:191600 |
| Renal Caliceal Diverticuli-Deafness Syndrome |
|
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... |
ORPHA:2838 |
| Ureter, Bifid Or Double |
|
Ureteral duplication |
OMIM:191550 |
| Vesicoureteral Reflux 3 |
|
Hydronephrosis, Hydroureter, Vesicoureteral reflux |
OMIM:613674 |
| Ureterocele |
|
Ureterocele, Duplicated collecting system |
OMIM:191650 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Hydronephrosis, Hydroureter, Death in infancy |
OMIM:618240 |
| Congenital Anomalies Of Kidney And Urinary Tract 2 |
|
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena... |
OMIM:143400 |
| Congenital Primary Megaureter |
|
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... |
ORPHA:617 |
| Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Hydronephrosis, Hydroureter |
OMIM:264140 |
| Dysmyelination With Jaundice |
|
Hydronephrosis, Hypoplasia of penis, Hydroureter |
OMIM:224250 |
| Noduli Cutanei, Multiple, With Urinary Tract Abnormalities |
|
Hydronephrosis, Duplicated collecting system |
OMIM:163850 |
| Humero-Radio-Ulnar Synostosis |
|
Abnormality of the ureter, Abnormality of the upper urinary tract |
ORPHA:3266 |
| Caudal Duplication Anomaly |
|
Ureteral duplication |
OMIM:607864 |
| Lower Limb Malformation-Hypospadias Syndrome |
|
Hypospadias, Abnormality of the ureter, Respiratory insufficiency |
ORPHA:2487 |
| Urofacial Syndrome 1 |
|
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Enuresis, Urethral obstructio... |
OMIM:236730 |
| Thymic Aplasia With Fetal Death |
|
Ureteral agenesis, Renal agenesis, Stillbirth |
OMIM:274210 |
| Ring Chromosome 8 Syndrome |
|
Hydronephrosis, Abnormality of the ureter |
ORPHA:1450 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis |
OMIM:274265 |
| Urofacial Syndrome 2 |
|
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... |
OMIM:615112 |
| Renal Hypodysplasia/Aplasia 3 |
|
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ... |
OMIM:617805 |
| Bardet-Biedl Syndrome 16 |
|
Renal agenesis, Renal dysplasia, Renal cyst, Respiratory distress, Renal insufficiency, Abnormali... |
OMIM:615993 |
| Wolfram Syndrome, Mitochondrial Form |
|
Hydronephrosis, Hydroureter |
OMIM:598500 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 |
|
Fetal megacystis, Hydroureter |
OMIM:249210 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... |
ORPHA:93108 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Abnormality of the upper urinary tract, Abnormality of the bladder, Hydroureter |
ORPHA:2547 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Hydroureter, Nephrolithiasis, Vesicoureteral reflux |
OMIM:617219 |
| 2p15-16.1 microdeletion syndrome |
|
Hydronephrosis |
DECIPHER:70 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux |
OMIM:618270 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Hydronephrosis, Neonatal death, Fetal megacystis, Megacystis, Hydroureter |
OMIM:619362 |
| Rowley-Rosenberg Syndrome |
|
Aminoaciduria, Pulmonary arterial hypertension, Recurrent pneumonia, Atelectasis |
OMIM:268500 |
| Bronchopulmonary Dysplasia |
|
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... |
ORPHA:70589 |
| 46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome |
|
Hydronephrosis, Respiratory insufficiency, Urogenital sinus anomaly, Displacement of the urethral... |
ORPHA:2973 |
| Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Abnormality of the urinary system, Hydronephrosis |
ORPHA:2669 |
| Prune Belly Syndrome |
|
Urethral valve, Hydronephrosis, Hydroureter, Congenital posterior urethral valve |
OMIM:100100 |
| Wolfram Syndrome 1 |
|
Hydronephrosis, Tremor, Ataxia, Hydroureter, Neurogenic bladder |
OMIM:222300 |
| Macdermot-Winter Syndrome |
|
Hydronephrosis, Death in infancy |
OMIM:247990 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... |
OMIM:615294 |
| Prune Belly Syndrome |
|
Abnormality of the ureter, Congenital posterior urethral valve, Urogenital sinus anomaly, Recurre... |
ORPHA:2970 |
| Severe Acute Respiratory Syndrome |
|
Hypoxemia, Cough, Respiratory distress, Acute kidney injury, Acute infectious pneumonia, Chronic ... |
ORPHA:140896 |
| Renal Hypoplasia |
|
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... |
ORPHA:93101 |
| Malaria |
|
Respiratory distress, Acute kidney injury, Gait imbalance |
ORPHA:673 |
| Myotubular Myopathy With Abnormal Genital Development |
|
Hypospadias, Death in infancy, Atelectasis, Neonatal death, Respiratory distress, Micropenis, Pen... |
OMIM:300219 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bilateral renal agenesis, Death in infancy, Ureteral atresia, Unilateral renal agenesis |
OMIM:618845 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter, Respiratory insufficiency, Renal hypoplasia/aplasia, Hypo... |
ORPHA:1046 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Wheezing, Hypoxemia, Dystonia, Neonatal respiratory distress, Crackles, Tachypnea, Ground-glass o... |
OMIM:610978 |
| Hinman Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff... |
ORPHA:84085 |
| Bladder Exstrophy And Epispadias Complex |
|
Horseshoe kidney, Unilateral renal agenesis, Bladder exstrophy, Hydroureter, Epispadias |
OMIM:600057 |
| Asbestos Intoxication |
|
Wheezing, Restrictive ventilatory defect, Hypoxemia, Interlobular septal thickening, Diffuse reti... |
ORPHA:2302 |
| Vesicoureteral Reflux, X-Linked |
|
Vesicoureteral reflux |
OMIM:314550 |
| Vesicoureteral Reflux 1 |
|
Vesicoureteral reflux |
OMIM:193000 |
| Atresia Of Urethra |
|
Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fistula, Recurrent urinary t... |
ORPHA:105 |
| Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Atelectasis, Bronchiectasis |
OMIM:619466 |
| Respiratory Distress Syndrome In Premature Infants |
|
Neonatal respiratory distress, Tachypnea, Respiratory distress, Dyspnea, Atelectasis |
OMIM:267450 |
| Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects |
|
Hydronephrosis, Ureteral atresia |
OMIM:183802 |
| Recurrent Respiratory Papillomatosis |
|
Wheezing, Stridor, Respiratory insufficiency, Tachypnea, Upper airway obstruction, Respiratory di... |
ORPHA:60032 |
| Mucus Inspissation Of Respiratory Tract |
|
Chronic sinusitis, Chronic pulmonary obstruction, Atelectasis, Bronchiectasis |
OMIM:253240 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 |
|
Hydronephrosis, Hydroureter, Megacystis |
OMIM:619431 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Tachypnea, Tubulointerstitial fibrosis, Cough, Respiratory distress, Respiratory failure |
OMIM:263000 |
| Pulmonary Blastoma |
|
Dyspnea, Pulmonary infiltrates, Recurrent pneumonia, Cough |
ORPHA:64741 |
| Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasis |
OMIM:615872 |
| Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut |
|
Hypospadias, Hydronephrosis, Recurrent urinary tract infections, Stage 2 chronic kidney disease, ... |
OMIM:191800 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Renal hypoplasia, Renal dysplasia, Neonatal death, Renal cyst, Stillbirth, Ureteral agenesis |
OMIM:236500 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Dystonia, Respiratory distress, Increased level of methylsuccinic acid in ... |
ORPHA:26792 |
| Acute Interstitial Pneumonia |
|
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Interl... |
ORPHA:79126 |
| Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Micropenis, Death in childhood |
OMIM:615597 |
| Congenital Megacalycosis |
|
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... |
ORPHA:93109 |
| Meconium Aspiration Syndrome |
|
Wheezing, Hypoxemia, Atelectasis, Transient pulmonary infiltrates, Pneumothorax, Pulmonary arteri... |
ORPHA:70588 |
| Nephronophthisis-Like Nephropathy 2 |
|
Periglomerular fibrosis, Bronchiectasis, Stage 5 chronic kidney disease, Cough, Pulmonary infiltr... |
OMIM:619468 |
| Myopathy, Congenital, Progressive, With Scoliosis |
|
Gait disturbance, Hydronephrosis, Respiratory insufficiency, Respiratory insufficiency due to mus... |
OMIM:618578 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Ureteropelvic junction obstruction, Stage 5 chronic kidney disease, Vesicoureteral reflux |
OMIM:610805 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Death in infancy, Megacystis, Multicystic kidney dysplasia, Hypoperistalsis, Hydroureter |
ORPHA:2241 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Wheezing, Hypoxemia, Crackles, Abnormal pulmonary thoracic imaging finding, Asthma, Nonproductive... |
ORPHA:2902 |
| Ciliary Dyskinesia, Primary, 33 |
|
Ciliary dyskinesia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent pneumonia, Atelectasis |
OMIM:616726 |
| Noonan Syndrome 9 |
|
Hydroureter |
OMIM:616559 |
| Ciliary Dyskinesia, Primary, 20 |
|
Ciliary dyskinesia, Bronchiectasis, Respiratory insufficiency due to defective ciliary clearance,... |
OMIM:615067 |
| Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... |
ORPHA:223 |
| Immunodeficiency, Common Variable, 6 |
|
Macroscopic hematuria, Hydronephrosis, Mesangial Immune complex deposition, Stage 5 chronic kidne... |
OMIM:613496 |
| Cardiac Valvular Defect, Developmental |
|
Urethral diverticulum, Hydronephrosis, Hydroureter |
OMIM:212093 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Respiratory distress, Ataxia |
OMIM:619099 |
| Familial Nasal Acilia |
|
Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Respiratory distress, Dyspnea, Atelectasis |
ORPHA:922 |
| Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hydronephrosis, Duplicated collecting system |
OMIM:617093 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction |
ORPHA:141152 |
| Joubert Syndrome 35 |
|
Hydronephrosis, Recurrent urinary tract infections, Multicystic kidney dysplasia, Ataxia, Renal f... |
OMIM:618161 |
| Mandibulofacial Dysostosis With Alopecia |
|
Hydroureter |
OMIM:616367 |
| Posterior Urethral Valve |
|
Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat... |
ORPHA:93110 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormality of the urinary system, Cough, Tremor, Inability to walk, Respiratory failure, Dyspnea... |
ORPHA:90117 |
| Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
| Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness |
|
Chronic sinusitis, Atelectasis |
OMIM:300455 |
| Cloacal Exstrophy |
|
Horseshoe kidney, Hydroureter, Renal hypoplasia/aplasia, Ureteropelvic junction obstruction, Vesi... |
ORPHA:93929 |
| Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
| Image Syndrome |
|
Hypospadias, Hydronephrosis |
ORPHA:85173 |
| Codas Syndrome |
|
Hydroureter |
ORPHA:1458 |
| Frontometaphyseal Dysplasia 1 |
|
Hydronephrosis, Hydroureter, Stridor |
OMIM:305620 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Hydronephrosis |
OMIM:235760 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Ureteral obstruction, Hydronephrosis, Stridor, Pneumonia, Urinary retention, Pneumothorax, Aplasi... |
ORPHA:79404 |
| X-Linked Intellectual Disability, Schimke Type |
|
Hydronephrosis, Vesicoureteral reflux |
ORPHA:85285 |
| Chand Syndrome |
|
Ataxia, Hydroureter, Atelectasis |
ORPHA:1401 |
| Ochoa Syndrome |
|
Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux, ... |
ORPHA:2704 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Dystonia, Renal tubular dysfunction, Respiratory distress, Renal insufficiency, Lethargy |
ORPHA:289916 |
| Cat-Eye Syndrome |
|
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney |
ORPHA:195 |
| Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure, Hydronephrosis, Akinesia |
OMIM:607598 |
| Ventriculomegaly With Defects Of The Radius And Kidney |
|
Horseshoe kidney, Ureteral duplication, Renal agenesis, Ectopic kidney |
OMIM:602200 |
| Caudal Duplication |
|
Renal hypoplasia/aplasia, Ureteral duplication, Abnormal penis morphology |
ORPHA:1756 |
| Congenital Disorder Of Glycosylation, Type Iy |
|
Hypospadias, Respiratory distress |
OMIM:300934 |
| Tracheobronchopathia Osteochondroplastica |
|
Wheezing, Productive cough, Stridor, Respiratory insufficiency, Pneumonia, Upper airway obstructi... |
ORPHA:3348 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Renal dysplasia, Abnormal renal corticomedullary differentiation |
OMIM:616733 |
| Familial Visceral Myopathy |
|
Megacystis, Hydroureter, Vesicoureteral reflux |
ORPHA:2604 |
| Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
| Czeizel-Losonci Syndrome |
|
Abnormality of the urinary system, Congenital megaureter, Hydronephrosis, Ureteral agenesis |
ORPHA:2437 |
| Diaphanospondylodysostosis |
|
Respiratory distress, Multiple renal cysts |
ORPHA:66637 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Dystonia, Falls, Bradykinesia, Tremor, Respiratory distress |
ORPHA:240085 |
| Penoscrotal Transposition |
|
Hypospadias, Abnormality of the ureter, Renal agenesis, Renal dysplasia, Abnormality of the ureth... |
ORPHA:2842 |
| Orofaciodigital Syndrome Xv |
|
Hydronephrosis |
OMIM:617127 |
| Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Organic aciduria |
OMIM:614741 |
| Epilepsy, Pyridoxine-Dependent |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:266100 |
| Microphthalmia, Lenz Type |
|
Hypospadias, Renal hypoplasia/aplasia, Hydronephrosis, Hydroureter |
ORPHA:568 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific int... |
OMIM:610921 |
| Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory failure, Nasal flaring, Atelectasis |
ORPHA:70587 |
| Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Renal hypoplasia, Respiratory insufficiency, Neonatal death, Renal cyst, Respiratory failure |
OMIM:228940 |
| Fanconi Anemia, Complementation Group O |
|
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease |
OMIM:613390 |
| Marden-Walker Syndrome |
|
Hypospadias, Hydronephrosis, Abnormal penis morphology, Renal agenesis, Abnormality of the urinar... |
ORPHA:2461 |
| 8P23.1 Duplication Syndrome |
|
Hydronephrosis |
ORPHA:251076 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Hydronephrosis, Vesicoureteral reflux |
OMIM:618265 |
| Primary Hyperoxaluria Type 2 |
|
Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i... |
ORPHA:93599 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Abnormality of the ureter |
ORPHA:1035 |
| Anti-Glomerular Basement Membrane Disease |
|
Respiratory insufficiency, Hematuria, Cough, Pulmonary infiltrates, Glomerulopathy, Proteinuria, ... |
ORPHA:375 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Lethargy, Ureteral duplication, Hydronephrosis, Respiratory insufficiency, Apnea, Respiratory dis... |
OMIM:608836 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Renal hypoplasia, Hydronephrosis, Renal agenesis, Obstructive sleep apnea, Inability to walk |
OMIM:618494 |
| Multiple Carboxylase Deficiency |
|
Tachypnea, Respiratory distress, Ataxia, Organic aciduria, Lethargy |
ORPHA:148 |
| Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Loss of ability to walk, Exertional dyspnea, Atelectasis |
ORPHA:254361 |
| Mercury Poisoning |
|
Dystonia, Interstitial pneumonitis, Tremor, Respiratory distress, Acute kidney injury, Respirator... |
ORPHA:330021 |
| Lymphangioleiomyomatosis |
|
Pneumothorax, Hematuria, Cough, Renal angiomyolipoma, Pulmonary infiltrates, Abnormal urinary col... |
ORPHA:538 |
| Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency, Respiratory distress |
OMIM:614399 |
| Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Tachypnea, Cough, Mesangial hypercellularity, Crescentic glomerulonephritis, Decreased DLCO, Rest... |
OMIM:616414 |
| Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress |
ORPHA:171703 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dystonia, Respiratory distress, Renal insufficiency, Lethargy |
ORPHA:79312 |
| Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
| Arthrogryposis Multiplex Congenita 6 |
|
Hypospadias, Death in infancy, Neonatal death, Death in childhood, Akinesia, Respiratory failure |
OMIM:619334 |
| Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Dyspnea, Renal cyst |
OMIM:174050 |
| Gaucher Disease Type 2 |
|
Dystonia, Respiratory distress, Cough, Abnormal pattern of respiration |
ORPHA:77260 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Tachypnea, Ground-glass opacification, Cough, Respiratory distress, Intercostal retrac... |
ORPHA:91359 |
| Faciocardiorenal Syndrome |
|
Horseshoe kidney, Hydroureter, Waddling gait |
OMIM:227280 |
| Diffuse Alveolar Hemorrhage |
|
Hypoxemia, Irregular septal thickening on pulmonary HRCT, Hematuria, Ground-glass opacification, ... |
ORPHA:90060 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... |
OMIM:254210 |
| Xanthinuria, Type I |
|
Xanthinuria, Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis |
OMIM:278300 |
| Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Pulm... |
ORPHA:36238 |
| White-Kernohan Syndrome |
|
Horseshoe kidney, Hydronephrosis, Obstructive sleep apnea, Attention deficit hyperactivity disord... |
OMIM:619426 |
| Pallister-Hall Syndrome |
|
Renal hypoplasia, Hydronephrosis, Renal dysplasia, Neonatal death, Renal cyst, Micropenis, Distal... |
OMIM:146510 |
| Meckel Syndrome 12 |
|
Renal hypoplasia, Renal agenesis, Ureteral hypoplasia |
OMIM:616258 |
| Raine Syndrome |
|
Hydronephrosis, Hydroureter, Neonatal death |
OMIM:259775 |
| Mckusick-Kaufman Syndrome |
|
Vesicovaginal fistula, Hydronephrosis, Hydroureter, Polycystic kidney dysplasia |
OMIM:236700 |
| Penile Agenesis |
|
Cystic renal dysplasia, Bilateral renal hypoplasia, Hydronephrosis, Absent penis, Urethral fistul... |
ORPHA:49 |
| Avian Influenza |
|
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Ground-glass opacification, Coug... |
ORPHA:454836 |
| 6P22 Microdeletion Syndrome |
|
Hydronephrosis |
ORPHA:251046 |
| Ellis Van Creveld Syndrome |
|
Hypospadias, Abnormality of the ureter, Hydroureter, Renal hypoplasia/aplasia, Emphysema, Abnorma... |
ORPHA:289 |
| Diabetic Embryopathy |
|
Renal hypoplasia/aplasia, Micropenis, Ureteral duplication, Hydronephrosis |
ORPHA:1926 |
| Carpenter Syndrome 1 |
|
Hydronephrosis, Hydroureter |
OMIM:201000 |
| Caudal Regression Sequence |
|
Ureteral duplication, Abnormality of the ureter, Renal agenesis, Vesicoureteral reflux, Ectopic k... |
ORPHA:3027 |
| Cryptogenic Organizing Pneumonia |
|
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Ground-glass opacification, ... |
ORPHA:1302 |
| Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome |
|
Ureteral duplication, Hand tremor, Inability to walk, Waddling gait, Duplication of renal pelvis |
ORPHA:457212 |
| Holocarboxylase Synthetase Deficiency |
|
Tachypnea, Respiratory distress, Ataxia, Organic aciduria, Lethargy |
ORPHA:79242 |
| Bor Syndrome |
|
Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junction ob... |
ORPHA:107 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Tremor, Ataxia, Hydronephrosis |
OMIM:618060 |
| Hereditary Pulmonary Alveolar Proteinosis |
|
Crazy paving pattern, Hypoxemia, Crackles, Tachypnea, Cough, Respiratory distress, Acute infectio... |
ORPHA:264675 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Apneic episodes precipita... |
OMIM:605809 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:1832 |
| Immunoneurologic Disorder, X-Linked |
|
Functional abnormality of the bladder, Neonatal death |
OMIM:300076 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hypospadias, Abnormality of the ureter |
ORPHA:2522 |
| Diabetes Insipidus, Neurohypophyseal, X-Linked |
|
Hydronephrosis, Polyuria |
OMIM:304900 |
| Bladder Exstrophy |
|
Abnormality of the ureter, Recurrent urinary tract infections, Vesicoureteral reflux, Bladder exs... |
ORPHA:93930 |
| Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Hypoxemia, Reduced forced expiratory volume in one second, Pneumonia, Bronchiectasis, Decreased f... |
ORPHA:1303 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Chronic pulmonary obstruction, Crackles, Bronchiectasis, Pneumothorax, Cough, Respiratory distres... |
ORPHA:411703 |
| Silver-Russell Syndrome 1 |
|
Hypospadias, Urethral valve, Abnormality of the ureter, Congenital posterior urethral valve, Neph... |
OMIM:180860 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Athetosis, Hydronephrosis, Recurrent aspiration pneumonia, Hypertrophy of the urinary bladder, Co... |
ORPHA:280633 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Hydronephrosis, Hydroureter, Abnormality of the upper urinary tract |
ORPHA:2995 |
| Idiopathic Acute Eosinophilic Pneumonia |
|
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Pulmonary infiltrates, Restric... |
ORPHA:724 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy |
OMIM:604377 |
| Trisomy 1Q |
|
Congenital megaureter, Hydronephrosis, Multicystic kidney dysplasia |
ORPHA:261344 |
| Renal Agenesis |
|
Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, U... |
ORPHA:411709 |
| Laryngotracheal Angioma |
|
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Intercostal retractions |
ORPHA:137935 |
| Hereditary Xanthinuria |
|
Hydronephrosis, Decreased urinary urate, Increased urinary hypoxanthine, Xanthine nephrolithiasis... |
ORPHA:3467 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Hydronephrosis, Urinary bladder inflammation, Aplasia of the bladder, Renal dysplasia, Hematuria,... |
ORPHA:79403 |
| Bronchogenic Cyst |
|
Pneumonia, Cough, Dyspnea, Abnormal pulmonary thoracic imaging finding, Atelectasis |
ORPHA:2357 |
| Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:238329 |
| Oeis Complex |
|
Hydronephrosis, Renal agenesis, Vesicovaginal fistula, Pelvic kidney, Duplicated collecting syste... |
OMIM:258040 |
| Myopathy And Diabetes Mellitus |
|
Progressive cerebellar ataxia, Respiratory distress, Inability to walk, Tip-toe gait |
ORPHA:2596 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respiratory distress... |
ORPHA:254875 |
| Lujo Hemorrhagic Fever |
|
Crackles, Rhinitis, Respiratory distress, Resting tremor, Microscopic hematuria, Oliguria, Nonpro... |
ORPHA:319213 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Respiratory insufficiency d... |
OMIM:220110 |
| Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Hydronephrosis |
OMIM:616973 |
| Urban-Rogers-Meyer Syndrome |
|
Abnormality of the ureter, Hypoplasia of penis |
ORPHA:3409 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Hydronephrosis, Renal agenesis, Urethral stenosis, Renal dysplasia, Megacystis, Duplicated collec... |
OMIM:604292 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Neo... |
OMIM:231680 |
| Cockayne Syndrome Type 3 |
|
Renal hypoplasia, Hydronephrosis, Urinary retention, Intention tremor, Unilateral renal agenesis,... |
ORPHA:90324 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Intralobular septal thickening, Respiratory insufficiency, Interstitial pneumonitis, N... |
OMIM:610913 |
| Vici Syndrome |
|
Renal tubular acidosis, Death in infancy, Ureteral atresia |
ORPHA:1493 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Respiratory distress, Inability to walk |
OMIM:618006 |
| Idiopathic Pulmonary Hemosiderosis |
|
Restrictive ventilatory defect, Crackles, Glomerulonephritis, Ground-glass opacification, Cough, ... |
ORPHA:99931 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Tremor, Respiratory distress, Focal dystonia, Bradykinesia |
ORPHA:240103 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux |
OMIM:613735 |
| Endove Syndrome, Limb-Only Type |
|
Hydronephrosis, Vesicoureteral reflux |
OMIM:619217 |
| Pleural Mesothelioma |
|
Abnormal respiratory system physiology, Cough, Respiratory distress, Dyspnea, Pleural effusion |
ORPHA:50251 |
| Axial Mesodermal Dysplasia Spectrum |
|
Hydronephrosis, Abnormality of the ureter, Abnormality of the urinary system, Abnormal localizati... |
ORPHA:1834 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Hydronephrosis, Aplasia of the bladder, Abnormality of the urinary system, Renal dysplasia, Glome... |
ORPHA:158684 |
| Stankiewicz-Isidor Syndrome |
|
Hypospadias, Hyperactivity, Micropenis, Ureteral duplication |
OMIM:617516 |
| Desmoid Tumor |
|
Hydronephrosis, Abnormality of the upper urinary tract |
ORPHA:873 |
| Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
| Primary Dystonia, Dyt4 Type |
|
Gait disturbance, Torticollis, Laryngeal dystonia, Respiratory distress, Dysdiadochokinesis, Gene... |
ORPHA:98805 |
| Histiocytosis, Familial Lipochrome |
|
Pulmonary infiltrates |
OMIM:235900 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Obstructive sleep apnea, Nephrocalcinosis, Abnormality of the urinary system, Congenital megauret... |
ORPHA:369837 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Renal dysplasia, Micropenis, Renal cyst, Hydronephrosis |
OMIM:615287 |
| Tetanus |
|
Opisthotonus, Elevated urinary epinephrine, Tachypnea, Tremor, Respiratory distress, Elevated uri... |
ORPHA:3299 |
| Williams-Beuren Region Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Gait disturbance, Hydronephrosis, Unilateral renal agen... |
OMIM:609757 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress |
OMIM:615595 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Neonatal respiratory distress, Lacticaciduria, Neonatal death, Elevated urinary 4-hydroxybutyric ... |
OMIM:619003 |
| Radio-Renal Syndrome |
|
Renal agenesis, Renal dysplasia, Respiratory distress, Multicystic kidney dysplasia, Renal hypopl... |
ORPHA:3015 |
| Aspergillosis |
|
Sinusitis, Chronic pulmonary obstruction, Pneumonia, Bronchiectasis, Abnormality of the kidney, G... |
ORPHA:1163 |
| Hereditary Orotic Aciduria |
|
Aminoaciduria, Abnormality of the ureter, Oroticaciduria, Orotic acid crystalluria |
ORPHA:30 |
| Tetraploidy |
|
Renal hypoplasia/aplasia, Hydronephrosis |
ORPHA:3305 |
| Brain-Lung-Thyroid Syndrome |
|
Hypospadias, Dystonia, Neonatal respiratory distress, Megacystis, Pulmonary arterial hypertension... |
ORPHA:209905 |
| Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Horseshoe kidney, Renal hypoplasia, Renal agenesis, Respiratory insufficiency, Renal dysplasia, B... |
OMIM:617641 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Hypospadias, Hydronephrosis, Opisthotonus, Micropenis, Ureteral stenosis, Hydroureter |
OMIM:269150 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the ureter |
ORPHA:1770 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:300580 |
| Netherton Syndrome |
|
Hydronephrosis, Asthma, Ectopic kidney, Aminoaciduria, Emphysema |
ORPHA:634 |
| Odontochondrodysplasia 1 |
|
Respiratory distress, Polycystic kidney dysplasia, Death in infancy, Nephronophthisis |
OMIM:184260 |
| Trisomy 13 |
|
Displacement of the urethral meatus, Hydronephrosis, Abnormality of the ureter, Multiple renal cysts |
ORPHA:3378 |
| Stt3B-Cdg |
|
Respiratory distress, Micropenis |
ORPHA:370924 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Hydronephrosis |
OMIM:602418 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication |
OMIM:270420 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Abnormal renal physiology, Hemolytic-uremic syndrome, Tremor, Respiratory distress, Microscopic h... |
OMIM:274150 |
| Folinic Acid-Responsive Seizures |
|
Dystonia, Apnea, Respiratory distress, Ataxia, Broad-based gait, Difficulty walking |
ORPHA:79097 |
| Distal Trisomy 6P |
|
Abnormality of the urinary system, Renal hypoplasia, Hydronephrosis |
ORPHA:1745 |
| Primary Ciliary Dyskinesia |
|
Wheezing, Productive cough, Neonatal respiratory distress, Bronchiectasis, Chronic rhinitis, Chro... |
ORPHA:244 |
| Nephrolithiasis, Calcium Oxalate |
|
Hyperoxaluria, Acute kidney injury, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... |
OMIM:167030 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Wheezing, Hypoxemia, Chronic pulmonary obstruction, Bronchiectasis, Ground-glass opacification, R... |
ORPHA:79127 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hydroureter |
OMIM:610759 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Renal hypoplasia, Aminoaciduria, Inability to walk, Hydronephrosis |
OMIM:617913 |
| Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
| Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Apnea, ... |
ORPHA:2257 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Hypospadias, Hydronephrosis, Renal insufficiency |
OMIM:611209 |
| 17Q12 Microdeletion Syndrome |
|
Ureterocele, Renal hypoplasia/aplasia, Renal insufficiency, Multicystic kidney dysplasia |
ORPHA:261265 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Oligosacchariduria, ... |
ORPHA:365 |
| Endove Syndrome, Limb-Brain Type |
|
Recurrent urinary tract infections, Hydronephrosis, Neurogenic bladder |
OMIM:619218 |
| Peroxisome Biogenesis Disorder 4B |
|
Ureterocele, Gait disturbance, Ataxia |
OMIM:614863 |
| Aredyld Syndrome |
|
Abnormality of the ureter |
ORPHA:1133 |
| Igg4-Related Kidney Disease |
|
Ureteral obstruction, Hydronephrosis, Urinary bladder inflammation, Tubulointerstitial nephritis,... |
ORPHA:449395 |
| Simpson-Golabi-Behmel Syndrome |
|
Hypospadias, Ureteral duplication, Hydronephrosis, Death in infancy, Hydroureter, Multicystic kid... |
ORPHA:373 |
| Acute Lung Injury |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Pulmonary infiltrates, Respiratory failure... |
ORPHA:178320 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Hydronephrosis |
OMIM:616449 |
| Pfeiffer Syndrome Type 3 |
|
Horseshoe kidney, Hydronephrosis, Respiratory distress, Vesicoureteral reflux, Tracheomalacia |
ORPHA:93260 |
| Waardenburg Syndrome Type 3 |
|
Tracheomalacia, Atelectasis |
ORPHA:896 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Hydronephrosis, Renal agenesis, Renal dysplasia, Duplicated collecting system, Micropenis, Vesico... |
OMIM:129900 |
| Relapsing Polychondritis |
|
Abnormal pattern of respiration, Hematuria, Cough, Glomerulopathy, Dyspnea, Proteinuria, Renal in... |
ORPHA:728 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Respir... |
ORPHA:2636 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Hypospadias, Hydronephrosis, Neonatal respiratory distress, Neonatal death, Pulmonary arterial hy... |
OMIM:265380 |
| N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Lethargy |
OMIM:237310 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Hydronephrosis, Renal dysplasia, Tremor, Bladder trabeculation, Ureteral hy... |
OMIM:614080 |
| Webb-Dattani Syndrome |
|
Hydronephrosis, Vesicoureteral reflux, Neurogenic bladder |
OMIM:615926 |
| 22Q11.2 Duplication Syndrome |
|
Displacement of the urethral meatus, Hydronephrosis, Attention deficit hyperactivity disorder, Ur... |
ORPHA:1727 |
| Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
| Noonan Syndrome 4 |
|
Ureteral duplication, Hydronephrosis |
OMIM:610733 |
| Nipah Virus Disease |
|
Tremor, Respiratory distress, Cough |
ORPHA:99825 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Death in infancy, Respiratory distress, Neonatal respiratory distress |
OMIM:615042 |
| Diaphanospondylodysostosis |
|
Cystic renal dysplasia, Respiratory insufficiency, Nephrogenic rest, Nephroblastomatosis, Respira... |
OMIM:608022 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Hypospadias, Abnormality of the ureter, Respiratory insufficiency |
ORPHA:2311 |
| Short-Rib Thoracic Dysplasia 12 |
|
Cystic renal dysplasia, Renal hypoplasia, Respiratory insufficiency, Neonatal death, Atelectasis |
OMIM:269860 |
| Lymphoid Interstitial Pneumonia |
|
Wheezing, Hypoxemia, Crackles, Bronchiectasis, Centrilobular ground-glass opacification on pulmon... |
ORPHA:79128 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephritis, Respira... |
OMIM:617303 |
| Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Hypospadias, Respiratory distress, Pulmonary arterial hypertension, Opisthotonus |
OMIM:619272 |
| Ciliary Dyskinesia, Primary, 1 |
|
Ciliary dyskinesia, Pneumonia, Bronchiectasis, Chronic rhinitis, Chronic sinusitis, Immotile cili... |
OMIM:244400 |
| Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome |
|
Inability to walk, Hydronephrosis |
ORPHA:488613 |
| Methylmalonic Aciduria, Cbla Type |
|
Ketonuria, Methylmalonic aciduria, Tremor, Respiratory distress, Lethargy |
OMIM:251100 |
| Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Cough, Respiratory distress, Waddling gait, Dyspnea, Difficulty walking |
ORPHA:86812 |
| Melnick-Needles Syndrome |
|
Hydronephrosis, Respiratory insufficiency, Vesicoureteral reflux |
ORPHA:2484 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Hydroureter, Bilateral renal agenesis, Unilateral renal agenesis |
OMIM:619194 |
| Koolen-De Vries Syndrome |
|
Hypospadias, Ureteral duplication, Hydronephrosis, Renal duplication, Vesicoureteral reflux |
ORPHA:96169 |
| 9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis, Difficulty walking |
ORPHA:531151 |
| X-Linked Centronuclear Myopathy |
|
Respiratory distress, Inability to walk, Respiratory failure requiring assisted ventilation, Pneu... |
ORPHA:596 |
| Recombinant Chromosome 8 Syndrome |
|
Hydronephrosis |
OMIM:179613 |
| Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... |
ORPHA:254864 |
| Oromandibular Dystonia |
|
Lingual dystonia, Torticollis, Laryngeal dystonia, Respiratory distress, Generalized dystonia, Bl... |
ORPHA:93958 |
| Zygomycosis |
|
Sinusitis, Pneumothorax, Epistaxis, Rhinorrhea, Cough, Nephritis, Renal insufficiency, Pulmonary ... |
ORPHA:73263 |
| Igg4-Related Aortitis |
|
Hydronephrosis, Asthma |
ORPHA:449400 |
| Leigh Syndrome With Cardiomyopathy |
|
Dystonia, Renal agenesis, Renal tubular acidosis, Renal dysplasia, Apnea, Respiratory distress, C... |
ORPHA:70474 |
| Peutz-Jeghers Syndrome |
|
Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts |
ORPHA:2869 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
| Joubert Syndrome 37 |
|
Micropenis, Hydronephrosis |
OMIM:619185 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Hydronephrosis |
OMIM:300048 |
| Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Aspiration, Multiple renal cysts, Reduced renal corticomedullary differenti... |
OMIM:618733 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Dystonia, Hydronephrosis, Neonatal respiratory distress |
ORPHA:457193 |
| Scrub Typhus |
|
Cough, Tremor, Restrictive ventilatory defect, Dyspnea, Renal insufficiency, Lethargy |
ORPHA:83317 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydronephrosis, Ureteral triplication |
OMIM:104350 |
| Toluene Embryopathy |
|
Hydronephrosis, Abnormal localization of kidney |
ORPHA:1920 |
| Tularemia |
|
Pneumonia, Abnormal pulmonary thoracic imaging finding, Cough, Respiratory distress, Pulmonary in... |
ORPHA:3392 |
| Moebius Syndrome |
|
Respiratory distress, Micropenis, Gait disturbance, Dysdiadochokinesis |
OMIM:157900 |
| Zellweger Syndrome |
|
Hypospadias, Hydronephrosis, Death in infancy, Respiratory insufficiency, Multicystic kidney dysp... |
ORPHA:912 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal dysplasia, Polycystic kidney dysplasia, Ureteral atresia, Renal insufficiency, Enlarged kidney |
OMIM:208540 |
| Farber Disease |
|
Respiratory insufficiency, Respiratory distress, Diffuse reticular or finely nodular infiltration... |
ORPHA:333 |
| Ritscher-Schinzel Syndrome 1 |
|
Hypospadias, Hydronephrosis |
OMIM:220210 |
| Spinocerebellar Ataxia, X-Linked 3 |
|
Death in infancy, Episodic respiratory distress, Head titubation, Dysmetria, Episodic hypoventila... |
OMIM:301790 |
| Trisomy 20P |
|
Hypospadias, Gait disturbance, Hydronephrosis, Abnormality of the ureter, Abnormal localization o... |
ORPHA:261318 |
| Smith-Magenis Syndrome |
|
Gait disturbance, Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/ap... |
ORPHA:819 |
| Fanconi Anemia |
|
Hypospadias, Abnormality of the urinary system, Abnormal localization of kidney, Abnormal preputi... |
ORPHA:84 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Apneic episodes in infancy, Episodic tachypnea, Respiratory distress, Increased urinary glycerol,... |
ORPHA:348 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory insufficiency, Torticollis, Repeated pneumothoraces, Respiratory distress, Restrictiv... |
ORPHA:536467 |
| Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay |
|
Ureteral duplication, Vesicoureteral reflux, Bifid ureter, Bronchiectasis |
OMIM:601347 |
| Scalp-Ear-Nipple Syndrome |
|
Ureteral duplication, Pyelonephritis, Duplication of renal pelvis, Recurrent urinary tract infect... |
ORPHA:2036 |
| Scedosporiosis |
|
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Cough, Pleu... |
ORPHA:449280 |
| Kleefstra Syndrome |
|
Hypospadias, Hydronephrosis, Hypoplasia of penis, Renal cyst, Micropenis, Vesicoureteral reflux, ... |
ORPHA:261494 |
| Methylmalonic Aciduria, Cblb Type |
|
Lethargy, Respiratory distress, Methylmalonic aciduria, Ketonuria |
OMIM:251110 |
| Hardikar Syndrome |
|
Hydronephrosis, Pyelonephritis, Recurrent urinary tract infections, Hypoplasia of the bladder, Ve... |
OMIM:301068 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypospadias, Micropenis, Pleural effusion, Hydronephrosis |
OMIM:616897 |
| Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Abnormal respirato... |
ORPHA:133 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tachypnea, Dystonia, Respiratory insufficiency, Atelectasis |
OMIM:618278 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arterial hypertension, Aspirati... |
ORPHA:258 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Death in infancy, Respiratory insufficiency, Nephrocalcinosis, Hematuria, Nephrolithiasis, Proxim... |
ORPHA:534 |
| Congenital Tracheal Stenosis |
|
Wheezing, Abnormality of the ureter, Abnormality of the kidney, Upper airway obstruction, Respira... |
ORPHA:141127 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Renal hypoplasia, Hydronephrosis, Laryngotracheomalacia, Renal cyst, Vesicoureteral reflux, Micro... |
OMIM:618454 |
| Alport Syndrome |
|
IgA deposition in the glomerulus, Thin glomerular basement membrane, Tubulointerstitial fibrosis,... |
ORPHA:63 |
| Pulmonary Alveolar Microlithiasis |
|
Restrictive ventilatory defect, Hypoxemia, Respiratory insufficiency, Bronchiectasis, Tachypnea, ... |
ORPHA:60025 |
| Congenital Pulmonary Lymphangiectasia |
|
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Respiratory distress, Pleu... |
ORPHA:2414 |
| Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies |
|
Renal hypoplasia, Hydronephrosis, Ureteropelvic junction obstruction, Respiratory insufficiency |
OMIM:618975 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Hematuria,... |
ORPHA:49041 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Apnea, Increased urinary glycerol, Dyspnea, Hyperventilation, Lethargy |
OMIM:229700 |
| Laryngeal Web, Familial |
|
Respiratory distress, Stridor |
OMIM:150360 |
| Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
| Diphallia |
|
Hypospadias, Horseshoe kidney, Ureteral duplication, Renal malrotation, Renal duplication, Bifid ... |
ORPHA:227 |
| Intellectual Disability, Buenos-Aires Type |
|
Spastic gait, Hydronephrosis |
ORPHA:3079 |
| Goodpasture Syndrome |
|
Macroscopic hematuria, Crackles, Tachypnea, Ground-glass opacification, Cough, Nodular pattern on... |
OMIM:233450 |
| Chromosome 17Q12 Deletion Syndrome |
|
Renal hypoplasia, Hydronephrosis, Urethral stenosis, Renal cyst, Stage 5 chronic kidney disease, ... |
OMIM:614527 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Hypoplasia of penis |
ORPHA:990 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Death in infancy, Tachypnea, Interlobular septal thickening, Neona... |
OMIM:265120 |
| Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Combined cyst... |
ORPHA:723 |
| Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
| Baller-Gerold Syndrome |
|
Abnormal localization of kidney, Hydronephrosis, Abnormality of the ureter, Vesicoureteral reflux |
ORPHA:1225 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Tremor, Respiratory distress, Ataxia |
OMIM:608799 |
| Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
| Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Ectopic kidney |
OMIM:613309 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Ataxia |
OMIM:618426 |
| Exstrophy-Epispadias Complex |
|
Bladder duplication, Horseshoe kidney, Renal hypoplasia, Abnormality of the ureter, Absent penis,... |
ORPHA:322 |
| Granulomatosis With Polyangiitis |
|
Sinusitis, Hydronephrosis, Chronic pulmonary obstruction, Glomerulopathy, Respiratory insufficien... |
ORPHA:900 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Cough, Atelectasis |
ORPHA:2314 |
| Campomelic Dysplasia |
|
Respiratory distress, Hydronephrosis, Apnea, Tracheobronchomalacia |
OMIM:114290 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Stridor, Respiratory insufficiency, Respiratory distress, Ataxia, Nocturnal hypoventilation, Dyspnea |
OMIM:211530 |
| Mesomelia-Synostoses Syndrome |
|
Hydronephrosis |
ORPHA:2496 |
| Toriello-Lacassie-Droste Syndrome |
|
Hypospadias, Abnormality of the ureter, Abnormal penis morphology, Abnormality of the bladder, Ep... |
ORPHA:3339 |
| Erdheim-Chester Disease |
|
Hydronephrosis, Dysuria, Cough, Renal insufficiency, Ataxia, Dyspnea, Pleural effusion |
ORPHA:35687 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Hydronephrosis, Recurrent pneumonia |
OMIM:619179 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Horseshoe kidney, Hydronephrosis, Hyperactivity, Vesicoureteral reflux, Ectopic kidney, Pleural e... |
OMIM:235510 |
| Dextrocardia |
|
Abnormality of the ureter, Abnormal renal morphology |
ORPHA:1666 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital megaureter, Nephrolithiasis, Enlarged kidney, Multiple renal cys... |
ORPHA:116 |
| Renal Dysplasia-Limb Defects Syndrome |
|
Renal hypoplasia, Pneumothorax, Renal dysplasia, Neonatal death, Respiratory distress, Respirator... |
OMIM:266910 |
| Cocaine Intoxication |
|
Wheezing, Tubulointerstitial nephritis, Tachypnea, Pneumothorax, Hematuria, Cough, Tremor, Respir... |
ORPHA:90068 |
| Vacterl/Vater Association |
|
Hypospadias, Hydronephrosis, Renal agenesis, Multicystic kidney dysplasia, Abnormality of the ure... |
ORPHA:887 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Attention deficit hyperactivity disorder, Micropenis, Hydronephrosis |
OMIM:612513 |
| Al-Gazali Syndrome |
|
Hydronephrosis, Recurrent pneumonia |
OMIM:609465 |
| Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Fetal pyelectasis |
ORPHA:50810 |
| Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Glomerular basement membrane lamellation, Abnormal renal physiology, Hematuria, Stage 5 chronic k... |
OMIM:308940 |
| Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
| Anaplastic Thyroid Carcinoma |
|
Stridor, Cough, Upper airway obstruction, Respiratory distress, Dyspnea |
ORPHA:142 |
| Alagille Syndrome |
|
Renal hypoplasia/aplasia, Abnormality of the ureter, Nephrotic syndrome |
ORPHA:52 |
| Idiopathic Neonatal Atrial Flutter |
|
Tachypnea, Respiratory distress |
ORPHA:45452 |
| Genitopatellar Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis, Apnea |
ORPHA:85201 |
| Suleiman-El-Hattab Syndrome |
|
Hydronephrosis |
OMIM:618950 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypospadias, Hydronephrosis, Duplicated collecting system, Micropenis, Vesicoureteral reflux |
OMIM:301056 |
| Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Hydronephrosis, Pulmonary arterial hypertension |
ORPHA:210122 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Hydronephrosis, Hypoplasia of penis |
ORPHA:2083 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Micropenis, Pulmonary arterial hypertension |
ORPHA:2519 |
| Distal Tetrasomy 15Q |
|
Horseshoe kidney, Hydronephrosis, Polycystic kidney dysplasia, Dilatation of the renal pelvis, Ne... |
ORPHA:314588 |
| Biotinidase Deficiency |
|
Apnea, Organic aciduria, Respiratory distress, Ataxia, Hyperventilation, Lethargy |
ORPHA:79241 |
| Microphthalmia, Syndromic 9 |
|
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Renal malrotation, Respiratory insufficiency,... |
OMIM:601186 |
| 3C Syndrome |
|
Hypospadias, Hydronephrosis, Hypoplasia of penis, Death in infancy |
ORPHA:7 |
| Johanson-Blizzard Syndrome |
|
Hypospadias, Hydronephrosis, Hypoplasia of penis, Death in infancy |
ORPHA:2315 |
| Legionnaires Disease |
|
Respiratory insufficiency, Hematuria, Cough, Ataxia, Pulmonary infiltrates, Restrictive ventilato... |
ORPHA:549 |
| Early Infantile Epileptic Encephalopathy |
|
Dystonia, Renal dysplasia, Tremor, Hyperactivity, Micropenis, Episodic ataxia, Ureterocele |
ORPHA:1934 |
| Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
| Coffin-Siris Syndrome 1 |
|
Hypospadias, Renal hypoplasia, Hydronephrosis, Gait ataxia, Ectopic kidney, Hydroureter |
OMIM:135900 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hydronephrosis, Renal dysplasia, Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicour... |
ORPHA:2237 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the ureter, Bladder polyp |
OMIM:175200 |
| Campomelic Dysplasia |
|
Tracheobronchomalacia, Hydronephrosis, Tracheomalacia, Respiratory insufficiency |
ORPHA:140 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Tubulointerstitial nephritis, Nephrotic syndrome, Interstitial pneumonitis, Cough, Pulmonary infi... |
ORPHA:139402 |
| Trisomy 17P |
|
Urethral valve, Hydronephrosis, Urethral stenosis, Polycystic kidney dysplasia, Hypoplasia of penis |
ORPHA:261290 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hydronephrosis, Pulmonary arterial hypertension, Respiratory insufficiency |
OMIM:612541 |
| Visceral Myopathy 1 |
|
Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis |
OMIM:155310 |
| Ciliary Dyskinesia, Primary, 2 |
|
Sinusitis, Ciliary dyskinesia, Bronchiectasis, Respiratory distress, Immotile cilia |
OMIM:606763 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Pulmonary arterial hypertension, Oliguria, Pulmonary infiltrates, Dyspnea, Renal insufficiency |
ORPHA:220393 |
| 22Q11.2 Deletion Syndrome |
|
Hypospadias, Renal hypoplasia, Chronic pulmonary obstruction, Polycystic kidney dysplasia, Multip... |
ORPHA:567 |
| Feingold Syndrome Type 1 |
|
Horseshoe kidney, Hydronephrosis, Renal dysplasia, Nephritis, Vesicoureteral reflux, Renal insuff... |
ORPHA:391641 |
| 15Q Overgrowth Syndrome |
|
Horseshoe kidney, Hydronephrosis, Pulmonary arterial hypertension, Ureterovesical stenosis, Abnor... |
ORPHA:314585 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormality of the kidney, Hydronephrosis, Hydroureter, Abnormality of the upper urinary tract |
ORPHA:2273 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
| Surfactant Metabolism Dysfunction, Pulmonary, 5 |
|
Respiratory insufficiency, Interlobular septal thickening, Ground-glass opacification, Exertional... |
OMIM:614370 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Micropenis, Hydronephrosis |
ORPHA:364028 |
| Melnick-Needles Syndrome |
|
Gait disturbance, Hydronephrosis, Pulmonary arterial hypertension, Stillbirth, Ureteral stenosis |
OMIM:309350 |
| Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
| Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis |
OMIM:311900 |
| Sarcoidosis, Susceptibility To, 2 |
|
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Pulmonary infiltrates, ... |
OMIM:612387 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Ataxia, Lethargy |
ORPHA:927 |
| Nijmegen Breakage Syndrome |
|
Sinusitis, Hydronephrosis, Bronchiectasis, Recurrent urinary tract infections, Hyperactivity, Rec... |
OMIM:251260 |
| Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Exaggerated startle response |
OMIM:618201 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:2759 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Hydronephrosis, Tracheomalacia, Emphysema, Bladder diverticulum |
OMIM:613177 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dysplasia, Absence of ... |
OMIM:263200 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Hydronephrosis, Renal dysplasia |
OMIM:300968 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Oligosacchariduria, ... |
ORPHA:308552 |
| Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress, Nephrocalcinosis |
OMIM:260400 |
| Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Renal dysplasia, Renal cyst, Bifid ureter, Nephroblastoma |
OMIM:617107 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Hydronephrosis, Respiratory insufficiency, Neurogenic bladder |
OMIM:608779 |
| Hemorrhagic Fever-Renal Syndrome |
|
Decreased urine output, Tubulointerstitial nephritis, Pneumonia, Glomerulonephritis, Anuria, Chro... |
ORPHA:340 |
| Branchio-Oculo-Facial Syndrome |
|
Multicystic kidney dysplasia, Hydronephrosis, Renal agenesis |
ORPHA:1297 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Stridor, Heavy proteinuria, Nephrotic syndrome, Pulmonary arterial hypertension, Respiratory dist... |
ORPHA:505248 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Abnormality of the ureter |
ORPHA:3253 |
| Duane-Radial Ray Syndrome |
|
Horseshoe kidney, Hydronephrosis, Renal hypoplasia, Renal agenesis, Renal malrotation, Crossed fu... |
OMIM:607323 |
| Castleman Disease |
|
Ureteral obstruction, Hematuria, Cough, Dyspnea, Renal insufficiency |
ORPHA:160 |
| Alg9-Cdg |
|
Hydronephrosis, Abnormal renal artery morphology, Torticollis, Hypoplasia of the bladder, Uretera... |
ORPHA:79328 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Dystonia, Episodic respiratory distress, Lacticaciduria, Apnea, Gait ataxia, Ataxia, Abnormal ren... |
ORPHA:255210 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:1145 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Sinusitis, Gait disturbance, Tubulointerstitial nephritis, Respiratory insufficiency, Hematuria, ... |
ORPHA:183 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Micropenis, Death in infancy, Hydronephrosis |
OMIM:235255 |
| Teebi-Shaltout Syndrome |
|
Horseshoe kidney, Hydronephrosis, Ureteral stenosis |
OMIM:272950 |
| Episodic Ataxia Type 1 |
|
Respiratory distress, Tip-toe gait |
ORPHA:37612 |
| Ethylene Glycol Poisoning |
|
Renal tubular dysfunction, Episodic respiratory distress, Decreased urine output, Abnormal patter... |
ORPHA:31826 |
| Micro Syndrome |
|
Abnormal localization of kidney, Hydronephrosis, Hypoplasia of penis |
ORPHA:2510 |
| Congenital Disorder Of Glycosylation, Type It |
|
Dyspnea, Pulmonary arterial hypertension, Hydronephrosis |
OMIM:614921 |
| Whim Syndrome |
|
Sinusitis, Pneumonia, Bronchiectasis, Recurrent pneumonia, Limb ataxia, Atelectasis |
ORPHA:51636 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Abnormality of the urinary system, Micropenis, Attention deficit hyperactivity disorder, Hydronep... |
ORPHA:96092 |
| Surfactant Metabolism Dysfunction, Pulmonary, 4 |
|
Reduced forced expiratory volume in one second, Tachypnea, Ground-glass opacification, Decreased ... |
OMIM:300770 |
| Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Neonatal respiratory distress, Interstitial pneumonitis, Tachypnea, Spontaneous neonatal pneumoth... |
ORPHA:217563 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Renal hypoplasia/aplasia, Hydronephrosis, Renal agenesis, Stillbirth |
OMIM:308050 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress |
ORPHA:261304 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Hypospadias, Respiratory distress, Tracheomalacia, Neonatal respiratory distress |
OMIM:217980 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Hypospadias, Hydronephrosis, Male urethral meatus stenosis, Pulmonary arterial hypertension, Inab... |
ORPHA:464738 |
| Congenital Diaphragmatic Hernia |
|
Hypoxemia, Respiratory distress |
ORPHA:2140 |
| Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Moderate albuminuria, Hydronephrosis, Asthma |
OMIM:619269 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Hydronephrosis, Ureteropelvic junction obstruction, Broad-based gait, Duplicated collecting system |
OMIM:280000 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Horseshoe kidney, Hydronephrosis, Pneumothorax, Nephrolithiasis, Functional abnormality of the bl... |
ORPHA:2953 |
| Slc35A1-Cdg |
|
Hypoxemia, Respiratory distress, Pneumonia |
ORPHA:238459 |
| Otopalatodigital Syndrome, Type Ii |
|
Hypospadias, Hydronephrosis, Respiratory insufficiency, Stillbirth, Respiratory failure |
OMIM:304120 |
| Encephalocraniocutaneous Lipomatosis |
|
Pelvic kidney, Hydronephrosis |
OMIM:613001 |
| Congenital Myasthenic Syndrome |
|
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... |
ORPHA:98914 |
| Pelvis-Shoulder Dysplasia |
|
Hydronephrosis, Waddling gait |
ORPHA:2839 |
| Fryns Syndrome |
|
Hypospadias, Ureteral duplication, Hydronephrosis, Renal agenesis, Renal cyst, Stillbirth, Chylot... |
OMIM:229850 |
| Khan-Khan-Katsanis Syndrome |
|
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux |
OMIM:618460 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure, Hydronephrosis |
ORPHA:254528 |
| Colchicine Poisoning |
|
Respiratory distress, Oliguria, Renal insufficiency, Cardiorespiratory arrest |
ORPHA:31824 |
| Schwartz-Jampel Syndrome |
|
Gait disturbance, Abnormality of the ureter, Death in infancy, Respiratory insufficiency, Abnorma... |
ORPHA:800 |
| Tuberous Sclerosis Complex |
|
Chronic kidney disease, Renal cell carcinoma, Renal cyst, Stage 5 chronic kidney disease, Respira... |
ORPHA:805 |
| Synaptic Congenital Myasthenic Syndromes |
|
Neonatal respiratory distress, Respiratory insufficiency, Pulmonary arterial hypertension, Exerti... |
ORPHA:98915 |
| Takenouchi-Kosaki Syndrome |
|
Hypospadias, Ataxia, Hydronephrosis, Unilateral renal agenesis |
OMIM:616737 |
| 2P15P16.1 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Multicystic kidney dysplasia, Hydronephrosis, Gait dist... |
ORPHA:261349 |
| Stromme Syndrome |
|
Bilateral renal hypoplasia, Hydronephrosis, Stillbirth |
OMIM:243605 |
| Fusariosis |
|
Sinusitis, Productive cough, Pneumonia, Bronchiectasis, Ground-glass opacification, Pulmonary inf... |
ORPHA:228119 |
| Cystic Echinococcosis |
|
Membranous nephropathy, Renal cyst, Asthma, Abnormal pulmonary thoracic imaging finding |
ORPHA:400 |
| Autosomal Recessive Spastic Paraplegia Type 20 |
|
Spastic gait, Hydronephrosis, Dysuria |
ORPHA:101000 |
| 15q26 overgrowth syndrome |
|
Horseshoe kidney, Hydronephrosis, Renal agenesis, Abnormality of the kidney, Polycystic kidney dy... |
DECIPHER:81 |
| Bacterial Toxic-Shock Syndrome |
|
Sinusitis, Pneumonia, Tachypnea, Recurrent urinary tract infections, Respiratory distress, Glomer... |
ORPHA:36234 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Dyspnea, Respiratory distress |
ORPHA:464453 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Dystonia, Exaggerated startle response, Respiratory distress, Ataxia, Broad-based gait |
ORPHA:438216 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Gait disturbance, Hydronephrosis, Ataxia |
ORPHA:247262 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Lethargy, Methylmalonic aciduria, Pulmonary arterial hypertension, Hemolytic-uremic syndrome, Res... |
ORPHA:79282 |
| Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Hydronephrosis, Duplicated collecting system |
ORPHA:541423 |
| Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital |
|
Renal tubular atrophy, Focal segmental glomerulosclerosis, Neonatal respiratory distress, Nephrot... |
OMIM:614748 |
| Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Hydronephrosis, Death in infancy, Recurrent urinary tract infections, Hypoplasia of penis, Abnorm... |
ORPHA:847 |
| Mosaic Trisomy 8 |
|
Hydronephrosis, Vesicoureteral reflux |
ORPHA:96061 |
| Fryns Syndrome |
|
Hypospadias, Multicystic kidney dysplasia, Hydronephrosis, Vesicoureteral reflux |
ORPHA:2059 |
| Mckusick-Kaufman Syndrome |
|
Hydronephrosis, Urogenital sinus anomaly, Multicystic kidney dysplasia, Renal hypoplasia/aplasia,... |
ORPHA:2473 |
| 1Q21.1 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Hydronephrosis, Vesicoureteral reflux |
ORPHA:250989 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Hypospadias, Hydronephrosis, Renal agenesis, Obstructive sleep apnea, Chordee, Pelvic kidney, Exa... |
OMIM:619522 |
| Carey-Fineman-Ziter Syndrome |
|
Hydronephrosis, Glandular hypospadias |
ORPHA:1358 |
| 7Q11.23 Microduplication Syndrome |
|
Hypospadias, Hydronephrosis, Dysmetria, Hyperactivity, Unilateral renal agenesis, Enuresis, Trach... |
ORPHA:96121 |
| Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis, Apnea, Broad-based gait |
ORPHA:2886 |
| Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Hydronephrosis, Ureteral obstruction |
ORPHA:90652 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress |
ORPHA:89844 |
| Joubert Syndrome 21 |
|
Apnea, Renal cyst, Ataxia, Hyperechogenic kidneys, Dyspnea |
OMIM:615636 |
| Mosaic Trisomy 9 |
|
Horseshoe kidney, Hydronephrosis, Renal dysplasia, Multiple renal cysts, Hypoplasia of penis |
ORPHA:99776 |
| Gaucher Disease, Perinatal Lethal |
|
Opisthotonus, Neonatal death, Apnea, Respiratory distress, Akinesia |
OMIM:608013 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Hydronephrosis, Pelvic kidney, Micropenis, Vesicoureteral reflux, Difficulty walking |
OMIM:618653 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Hydronephrosis |
ORPHA:35173 |
| Majeed Syndrome |
|
Cough, Microscopic hematuria, Pulmonary infiltrates, Glomerulopathy, Proteinuria |
ORPHA:77297 |
| Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
|
Hypospadias, Micropenis, Renal agenesis, Hydronephrosis |
OMIM:301040 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
| Toxic Epidermal Necrolysis |
|
Dysuria, Cough, Respiratory distress, Abnormality of the urethra, Restrictive ventilatory defect,... |
ORPHA:537 |
| Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
| Sepsis In Premature Infants |
|
Abnormal respiratory system physiology, Reversible renal failure, Oliguria, Abnormal mucociliary ... |
ORPHA:90051 |
| Adult Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Abnormal blood gas level, Pulmonary infiltrates, Respiratory failure, Dyspnea |
ORPHA:70578 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Hypospadias, Gait disturbance, Hydronephrosis, Pelvic kidney, Renal cyst, Micropenis, Unilateral ... |
ORPHA:464311 |
| Koolen-De Vries Syndrome |
|
Recurrent urinary tract infections, Hyperactivity, Hydronephrosis, Vesicoureteral reflux |
OMIM:610443 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Attention deficit hyperactivity disorder, Gait ataxia, Inability to walk |
OMIM:619383 |
| Congenital Tracheomalacia |
|
Wheezing, Productive cough, Neonatal respiratory distress, Stridor, Respiratory insufficiency, Tr... |
ORPHA:95430 |
| Opitz Gbbb Syndrome, Type Ii |
|
Hypospadias, Abnormality of the ureter, Pulmonary arterial hypertension, Aspiration, Abnormality ... |
OMIM:145410 |
| Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress |
OMIM:618188 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hypospadias, Hydronephrosis, Albuminuria, Renal cortical microcysts, Aminoaciduria |
OMIM:214100 |
| Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia |
OMIM:202650 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hypospadias, Ethylmalonic aciduria, Dystonia, Methylmalonic aciduria, Apnea, Respiratory distress... |
ORPHA:17 |
| Knobloch Syndrome |
|
Bifid ureter, Vesicoureteral reflux |
ORPHA:1571 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Dystonia, Hydronephrosis, Obstructive sleep apnea, Apnea, Breathing dysregulation, Exaggerated st... |
ORPHA:438213 |
| Kabuki Syndrome |
|
Hypospadias, Hydronephrosis, Abnormal localization of kidney, Duplicated collecting system, Renal... |
ORPHA:2322 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Apnea, Respiratory distress, Hypoventilation, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Hydronephrosis, Pleural effusion, Abnormality of bladder morphology, Vesicoureteral reflux |
ORPHA:453499 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress |
ORPHA:544503 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Hydronephrosis |
OMIM:302960 |
| Thakker-Donnai Syndrome |
|
Hydronephrosis |
ORPHA:1780 |
| Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia, Gait disturbance |
OMIM:156550 |
| Nasolacrimal Duct Cyst |
|
Abnormal breath sound, Paroxysmal dyspnea, Stridor, Episodic respiratory distress, Intercostal re... |
ORPHA:141083 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hypospadias, Gait disturbance, Hydronephrosis, Pelvic kidney, Renal cyst, Hyperactivity, Micropen... |
ORPHA:464306 |
| Occipital Horn Syndrome |
|
Ureteral obstruction, Hydronephrosis, Bladder diverticulum |
OMIM:304150 |
| Acrorenal-Mandibular Syndrome |
|
Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Aplasia of the bladder |
OMIM:200980 |
| Choanal Atresia |
|
Chronic sinusitis, Upper airway obstruction, Respiratory distress, Abnormal nasal mucus secretion... |
ORPHA:137914 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Respiratory distress |
OMIM:617895 |
| Pauci-Immune Glomerulonephritis |
|
Macroscopic hematuria, Tubulointerstitial nephritis, Glomerulonephritis, Decreased glomerular fil... |
ORPHA:93126 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Abnormal renal morphology, Micropenis, Hydronephrosis |
ORPHA:1655 |
