Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
teashirt zinc finger family member 3
Synonyms:
Tsh3,  teashirt3,  A630038G13Rik,  Zfp537

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tshz3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tshz3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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