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
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