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Gene: Tshz3 MGI:2442819

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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, Hydronephrosis, A... ORPHA:2838
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Ureterocele
Ureterocele, Duplicated collecting system OMIM:191650
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone... OMIM:143400
Congenital Primary Megaureter
Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis... ORPHA:617
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Vesicoureteral Reflux 3
Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j... OMIM:613674
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system 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, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ... OMIM:236730
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter, Death in infancy OMIM:618240
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Thymic-Renal-Anal-Lung Dysplasia
Renal agenesis, Ureteral agenesis, Ureteral dysgenesis OMIM:274265
Renal Hypodysplasia/Aplasia 3
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Renal dysplasia, Multicystic kidney dyspla... OMIM:617805
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Lower Limb Malformation-Hypospadias Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2487
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Respiratory distress, Bronchiolitis, Renal cyst, Renal agenesis... OMIM:615993
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure... ORPHA:93108
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Abnormality of the bladder, Hydroureter, Abnormality of the upper urinary tract, Hypoplasia of penis ORPHA:2547
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl... OMIM:618270
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Prune Belly Syndrome
Hydroureter, Renal insufficiency, Abnormality of the bladder, Recurrent urinary tract infections,... ORPHA:2970
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Neonatal death, Fetal megacystis OMIM:619362
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Congenital posterior urethral valve OMIM:100100
Macdermot-Winter Syndrome
Hydronephrosis, Death in infancy OMIM:247990
Atresia Of Urethra
Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux... ORPHA:105
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis, Death in infancy OMIM:618845
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Hypospadias, Respiratory distress, Glandular hypospadias, Death in infancy, Neonatal... OMIM:300219
Renal Hypoplasia
Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ... ORPHA:93101
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff... ORPHA:84085
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Recurrent respiratory infections, Atelectasis, Respiratory distress OMIM:619466
Adenine Phosphoribosyltransferase Deficiency
Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry... OMIM:614723
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Urofacial Syndrome 2
Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro... OMIM:615112
Bladder Exstrophy And Epispadias Complex
Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Horseshoe kidney OMIM:600057
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tubulointerstitial fibrosis, Type II pneumocyte hypertrophy, Recurrent uppe... OMIM:263000
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Abnormality of the ureter, Aplasia/Hy... ORPHA:1046
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis, Respiratory distress, Dyspnea, Tachypnea OMIM:267450
Wolfram Syndrome 1
Neurogenic bladder, Hydronephrosis, Hydroureter, Tremor OMIM:222300
Bronchopulmonary Dysplasia
Emphysema, Atelectasis, Respiratory distress, Pulmonary sequestration, Dyspnea, Abnormal lung mor... ORPHA:70589
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Renal hypoplasia/aplasia, Hydroureter, Urogenital sinus anomaly, Hydronephrosis, Displacement of ... ORPHA:2973
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro... OMIM:191800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Megacystis, Hydronephrosis, Hydroureter OMIM:619431
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Acute Interstitial Pneumonia
Ground-glass opacification, Atelectasis, Pleural effusion, Parenchymal consolidation, Dyspnea, Br... ORPHA:79126
Immunodeficiency, Common Variable, 6
Enlarged kidney, Recurrent respiratory infections, Nephrotic range proteinuria, Mesangial Immune ... OMIM:613496
Noonan Syndrome 9
Hydroureter OMIM:616559
Congenital Megacalycosis
Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph... ORPHA:93109
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Atelectasis, Respiratory distress, Parenchymal consolidation, Elevate... OMIM:610978
X-Linked Intellectual Disability, Schimke Type
Choreoathetosis, Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... OMIM:220150
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Stillbirth, Renal cyst, Renal hypoplasia, Ureteral agenesis, Pulmonary hypoplasia, Neonatal death... OMIM:236500
Malaria
Acute kidney injury, Respiratory distress ORPHA:673
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hydroureter, Death in infancy, Hypoperistalsis, Megacystis, Multicystic kidney dysplasia ORPHA:2241
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Asbestos Intoxication
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Pleural thickening, Atele... ORPHA:2302
Nephrogenic Diabetes Insipidus
Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of the bladder, Renal insuf... ORPHA:223
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
3-Methylglutaconic aciduria, Apnea, Pulmonary hypoplasia, Neonatal death OMIM:615228
Immunodeficiency 95
Ground-glass opacification, Respiratory distress, Recurrent viral upper respiratory tract infecti... OMIM:619773
Familial Nasal Acilia
Atelectasis, Respiratory distress, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Surfactant Metabolism Dysfunction, Pulmonary, 3
Ground-glass opacification, Exertional dyspnea, Reticular pattern on pulmonary HRCT, Respiratory ... OMIM:610921
Mandibulofacial Dysostosis With Alopecia
Hydroureter OMIM:616367
Severe Acute Respiratory Syndrome
Acute infectious pneumonia, Acute kidney injury, Dyspnea, Respiratory distress ORPHA:140896
Fanconi Anemia, Complementation Group O
Miscarriage, Renal cyst, Death in infancy, Hydronephrosis, Neonatal death, Stage 5 chronic kidney... OMIM:613390
Muscular Hypertonia, Lethal
Pneumonia, Death in infancy, Respiratory distress OMIM:254120
Cloacal Exstrophy
Renal hypoplasia/aplasia, Hydroureter, Ectopic kidney, Hypoplasia of penis, Vesicoureteral reflux... ORPHA:93929
Czeizel-Losonci Syndrome
Congenital megaureter, Ureteral agenesis, Pulmonary hypoplasia, Hydronephrosis, Abnormality of th... ORPHA:2437
Codas Syndrome
Hydroureter ORPHA:1458
Ochoa Syndrome
Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re... ORPHA:2704
Recurrent Respiratory Papillomatosis
Atelectasis, Respiratory distress, Dyspnea, Abnormal lung morphology, Recurrent pneumonia, Recurr... ORPHA:60032
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hydroureter, Hypercalciuria, Renal cyst, Ureteral stenosis, Nephrocalcinosis OMIM:615398
Isolated Congenital Hypoglossia/Aglossia
Dyspnea, Aspiration pneumonia, Respiratory distress ORPHA:141152
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Pulmonary hypoplasia, Abnormal renal corticomedullary differentiation, Respirato... OMIM:616733
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo... OMIM:616726
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Cat-Eye Syndrome
Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney ORPHA:195
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Increased level of methylsuccinic acid in urine, Dystonia, Ethylmalonic aci... ORPHA:26792
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Respi... ORPHA:79404
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Vesicoureteral reflux, Renal hypoplasia, Ureteropelvic junction obstru... OMIM:610805
Meconium Aspiration Syndrome
Pneumothorax, Transient pulmonary infiltrates, Abnormal pulmonary thoracic imaging finding, Atele... ORPHA:70588
Caudal Duplication
Renal hypoplasia/aplasia, Ureteral duplication, Abnormal penis morphology ORPHA:1756
Penile Agenesis
Hydroureter, Bilateral lung agenesis, Abnormality of the bladder, Bilateral renal agenesis, Absen... ORPHA:49
Familial Visceral Myopathy
Megacystis, Vesicoureteral reflux, Hydroureter ORPHA:2604
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Ventriculomegaly With Defects Of The Radius And Kidney
Renal agenesis, Ureteral duplication, Horseshoe kidney, Ectopic kidney OMIM:602200
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Dyspnea, Crescentic glomerulonephritis, Hemosiderin-l... OMIM:616414
Ciliary Dyskinesia, Primary, 21
Bronchiectasis, Recurrent pneumonia, Atelectasis OMIM:615294
Diaphanospondylodysostosis
Multiple renal cysts, Respiratory distress ORPHA:66637
Microphthalmia, Lenz Type
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Hydronephrosis ORPHA:568
Penoscrotal Transposition
Penoscrotal transposition, Hypospadias, Abnormality of the ureter, Renal agenesis, Renal dysplasi... ORPHA:2842
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Posterior Urethral Valve
Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no... ORPHA:93110
Infant Acute Respiratory Distress Syndrome
Pulmonary edema, Atelectasis, Nasal flaring, Respiratory tract infection, Pneumonia, Tachypnea ORPHA:70587
Congenital Disorder Of Glycosylation, Type Iy
Hypospadias, Respiratory distress OMIM:300934
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Polycystic kidney dysplasia, Hydronephrosis, Pulmonary hypopl... OMIM:236700
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Nephronophthisis-Like Nephropathy 2
Polyuria, Tubular luminal dilatation, Recurrent respiratory infections, Periglomerular fibrosis, ... OMIM:619468
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Dystonia, Choreoathetosis, Renal insufficiency, Renal tubular dysfunction ORPHA:289916
Lymphangioleiomyomatosis
Pneumothorax, Renal neoplasm, Hematuria, Emphysema, Atelectasis, Recurrent respiratory infections... ORPHA:538
Caudal Regression Syndrome
Ureteral duplication, Ectopic kidney, Vesicoureteral reflux, Abnormality of the ureter, Renal age... ORPHA:3027
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Hypersensitivity pneumonitis, Atelectasis, Pleural e... ORPHA:2902
Bronchogenic Cyst
Bronchogenic cyst, Abnormal pulmonary thoracic imaging finding, Atelectasis, Dyspnea, Abnormal pl... ORPHA:2357
Diabetic Embryopathy
Renal hypoplasia/aplasia, Ureteral duplication, Hydronephrosis, Abnormality of the pulmonary arte... ORPHA:1926
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Exertional dyspnea, Atelectasis, Bronchiolitis, Pulmonary fibrosis ORPHA:254361
Primary Hyperoxaluria Type 2
Recurrent urinary tract infections, Hyperoxaluria, Nephrolithiasis, Ureteral obstruction, Nephroc... ORPHA:93599
Renal Agenesis
Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Renal age... ORPHA:411709
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Recurrent respiratory infections, Atelectasis OMIM:615872
Amyloidosis, Finnish Type
Nephrotic syndrome, Urolithiasis, Renal glomerular amyloid deposition, Stage 5 chronic kidney dis... OMIM:105120
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hydroureter, Pelvic kidney, Vesicoureteral reflux, Hydronephrosis, Crossed fused renal ectopia, H... OMIM:300707
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Proximal tubulopathy, Aminoaciduria, Respiratory distress OMIM:612075
Trisomy 1Q
Hydronephrosis, Multicystic kidney dysplasia, Congenital megaureter ORPHA:261344
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Respiratory distress OMIM:614741
Ellis Van Creveld Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Emphys... ORPHA:289
Raine Syndrome
Hydroureter, Death in infancy, Hydronephrosis, Pulmonary hypoplasia, Neonatal death OMIM:259775
Pallister-Hall Syndrome
Abnormal lung lobation, Hydroureter, Ectopic kidney, Renal cyst, Distal urethral duplication, Ren... OMIM:146510
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea, Hydronephrosis OMIM:619797
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Carpenter Syndrome 1
Hydronephrosis, Hydroureter OMIM:201000
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hydronephrosis, Renal insufficiency OMIM:615996
Silver-Russell Syndrome 1
Hypospadias, Abnormality of the ureter, Urethral valve, Congenital posterior urethral valve, Neph... OMIM:180860
Marden-Walker Syndrome
Epispadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnorm... ORPHA:2461
Chand Syndrome
Atelectasis, Hydroureter ORPHA:1401
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Respiratory distress OMIM:619099
Congenital Myopathy 19
Hydronephrosis, Renal atrophy OMIM:618578
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Gaucher Disease Type 2
Abnormal pattern of respiration, Recurrent respiratory infections, Dystonia, Respiratory distress ORPHA:77260
Bor Syndrome
Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction obst... ORPHA:107
Tracheobronchopathia Osteochondroplastica
Exertional dyspnea, Atelectasis, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent respirator... ORPHA:3348
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Micropenis, Respiratory distress OMIM:615597
Hereditary Orotic Aciduria
Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Recurrent respiratory infect... ORPHA:30
Tetraploidy
Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lungs, Hydronephrosis ORPHA:3305
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Dystonia, Renal insufficiency, Choreoathetosis ORPHA:79312
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydronephrosis, Hydroureter, Abnormality of the upper urinary tract ORPHA:2995
Avian Influenza
Ground-glass opacification, Acute kidney injury, Pneumothorax, Respiratory distress, Miscarriage,... ORPHA:454836
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Vici Syndrome
Death in infancy, Recurrent respiratory infections, Ureteral atresia, Renal tubular acidosis ORPHA:1493
C1Q Deficiency 2
Bronchiectasis, Atelectasis, Recurrent lower respiratory tract infections OMIM:620321
Stuve-Wiedemann Syndrome 2
Stillbirth, Neonatal death, Death in adolescence, Respiratory distress OMIM:619751
Microcephaly 20, Primary, Autosomal Recessive
Renal hypoplasia, Bilateral renal agenesis, Ureteral agenesis, Hyperechogenic kidneys OMIM:617914
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia, Renal fibrosis OMIM:618161
Mercury Poisoning
Acute kidney injury, Respiratory distress, Tremor, Dyspnea, Dystonia, Interstitial pneumonitis ORPHA:330021
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r... ORPHA:1851
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Renal cyst, Abnormality of the ureter, Hydronephrosis, Abnormal localiz... ORPHA:1834
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hematuria, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Urethral stric... ORPHA:79403
Fraser Syndrome 3
Abnormal lung lobation, Stillbirth, Hypoplasia of penis, Bilateral renal agenesis, Ureteral agene... OMIM:617667
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Congenital ... ORPHA:280633
Bladder Exstrophy
Epispadias, Hypoplasia of penis, Recurrent urinary tract infections, Vesicoureteral reflux, Abnor... ORPHA:93930
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Abnormality of the ureter ORPHA:2522
Pleural Mesothelioma
Respiratory distress, Dyspnea, Pleural effusion, Abnormal lung morphology, Abnormal pleura morpho... ORPHA:50251
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Multiple Acyl-Coa Dehydrogenase Deficiency
Glutaric aciduria, Generalized aminoaciduria, Respiratory distress, Renal cortical cysts, Polycys... OMIM:231680
Surfactant Metabolism Dysfunction, Pulmonary, 2
Ground-glass opacification, Respiratory distress, Intraalveolar phospholipid accumulation, Nonspe... OMIM:610913
Hereditary Xanthinuria
Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar... ORPHA:3467
Odontochondrodysplasia 1
Nephronophthisis, Respiratory distress, Polycystic kidney dysplasia, Death in infancy, Pulmonary ... OMIM:184260
Distal Duplication 6P
Abnormal lung lobation, Renal hypoplasia, Hydronephrosis, Abnormality of the urinary system ORPHA:1745
Oeis Complex
Epispadias, Hydroureter, Duplicated collecting system, Vesicovaginal fistula, Pelvic kidney, Rena... OMIM:258040
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Abnormal lung lobation, Hydroureter, Hypospadias, Alveolar capillary dysplasia, Dilatation of the... OMIM:265380
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux OMIM:618265
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis, Tremor OMIM:618060
Meckel Syndrome 12
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia OMIM:616258
Epidermolysis Bullosa Simplex With Pyloric Atresia
Glomerular sclerosis, Aplasia of the bladder, Ureterocele, Hydronephrosis, Renal duplication, Ren... ORPHA:158684
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Hypoplasia of penis ORPHA:3409
Cutis Laxa, Autosomal Recessive, Type Ic
Multiple bladder diverticula, Emphysema, Atelectasis, Death in childhood, Death in infancy, Recur... OMIM:613177
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ureterocele, Renal agenesis, Hy... OMIM:604292
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Xanthinuria, Type I
Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria, Hydronephrosis OMIM:278300
Stankiewicz-Isidor Syndrome
Ureteral duplication, Micropenis, Hypospadias OMIM:617516
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Hydronephrosis, Pulmonary hypoplasia, Neonatal death, Urethral atresia OMIM:314390
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Vesicoureteral reflux, Tremor, Ureteral hypoplasia, Hydronephrosis, Pulmona... OMIM:614080
Netherton Syndrome
Emphysema, Ectopic kidney, Hydronephrosis, Recurrent respiratory infections, Aminoaciduria ORPHA:634
Alfadhel Syndrome
Horseshoe kidney, Nasal flaring OMIM:620655
Lujo Hemorrhagic Fever
Atelectasis, Respiratory distress, Resting tremor, Microscopic hematuria, Oliguria, Renal insuffi... ORPHA:319213
Trisomy 13
Abnormal lung lobation, Abnormality of the ureter, Hydronephrosis, Displacement of the urethral m... ORPHA:3378
Stt3B-Cdg
Micropenis, Respiratory distress ORPHA:370924
Cockayne Syndrome Type 3
Hydroureter, Unilateral renal agenesis, Neurogenic bladder, Intention tremor, Renal hypoplasia, H... ORPHA:90324
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Ground-glass opacification, Abnormal pulmonary interstitial morphology, Exertional dyspnea, Atele... OMIM:620233
White-Kernohan Syndrome
Hydronephrosis, Hydroureter, Horseshoe kidney OMIM:619426
17Q12 Microdeletion Syndrome
Ureterocele, Renal hypoplasia/aplasia, Multicystic kidney dysplasia, Renal insufficiency ORPHA:261265
Cardiac Valvular Dysplasia 1
Hydronephrosis, Hydroureter, Pulmonary artery atresia, Urethral diverticulum OMIM:212093
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Duplicated collecting system, Vesicoureteral reflux, Ureterocele, Renal agenesis, Hy... OMIM:129900
Perching Syndrome
Respiratory distress OMIM:617055
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Chronic Pneumonitis Of Infancy
Ground-glass opacification, Intercostal retractions, Respiratory distress, Diffuse reticular or f... ORPHA:91359
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ectopic kidney, Cystic renal dysplasia, Death in infancy OMIM:613730
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Respiratory distress ORPHA:1832
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter OMIM:610759
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Ureteral duplication, Long-chain dicarboxylic aciduria, Polycystic kidney dyspla... OMIM:608836
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Hypospadias, Ureteral stenosis, Hydronephrosis, Opisthotonus, Micropenis OMIM:269150
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux OMIM:613735
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis OMIM:619218
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Renal hypoplasia/aplasia, Abnormality of the ureter ORPHA:1770
Staphylococcal Necrotizing Pneumonia
Pneumothorax, Pulmonary pneumatocele, Respiratory distress, Acute infectious pneumonia, Pleural e... ORPHA:36238
Fanconi Renotubular Syndrome 5
Emphysema, Tubulointerstitial fibrosis, Glycosuria, Lung adenocarcinoma, Proteinuria, Pulmonary f... OMIM:618913
Radio-Renal Syndrome
Renal hypoplasia/aplasia, Respiratory distress, Chylothorax, Pleural effusion, Dyspnea, Renal age... ORPHA:3015
Isolated Atp Synthase Deficiency
3-Methylglutaconic aciduria, Dystonia, Renal hypoplasia, Respiratory distress ORPHA:254913
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Abnormal lung lobation, Congenital megaureter, Hypercalciuria, Renal cyst, Nephrocalcinosis, Rena... ORPHA:369837
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Hand tremor, Ureteral duplication ORPHA:457212
Igg4-Related Kidney Disease
Urethritis, Acute kidney injury, Enlarged kidney, Renal interstitial immunoglobulin deposits, Hem... ORPHA:449395
Dextrocardia
Abnormal lung lobation, Abnormal renal morphology, Abnormality of the ureter, Abnormal pulmonary ... ORPHA:1666
Peutz-Jeghers Syndrome
Neoplasm of the lung, Renal cell carcinoma, Multiple renal cysts, Abnormality of the ureter ORPHA:2869
Nephrolithiasis, Calcium Oxalate, 1
Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstruction, Calcium oxalate nephrolit... OMIM:167030
Tetanus
Respiratory distress, Tremor, Elevated urinary epinephrine level, Elevated urinary norepinephrine... ORPHA:3299
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Dystonia, Respiratory distress ORPHA:240085
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Renal duplication OMIM:270420
Pulmonary Non-Tuberculous Mycobacterial Infection
Pneumothorax, Pulmonary opacity, Respiratory distress, Pleural effusion, Dyspnea, Bronchiectasis ORPHA:411703
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Polycystic kidney dysplasia, Neonatal death, Pulmonary hypoplasia, Ureteral atre... OMIM:208540
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hydroureter, Hypospadias, Hypoplasia of penis, Death in infancy, Hydronephr... ORPHA:373
Primary Pulmonary Hypoplasia
Pneumothorax, Ureteral stenosis, Tachypnea, Apnea, Pulmonary hypoplasia, Recurrent respiratory in... ORPHA:2257
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Bilateral renal agenesis, Hydroureter, Unilateral renal agenesis OMIM:619194
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Succinic Acidemia
Respiratory distress OMIM:600335
Hardikar Syndrome
Partial anomalous pulmonary venous return, Hydroureter, Recurrent urinary tract infections, Vesic... OMIM:301068
Acute Lung Injury
Abnormal pulmonary interstitial morphology, Respiratory distress, Dyspnea, Pneumonia, Diffuse alv... ORPHA:178320
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Paradoxical respiration, Craniofacial dystonia, Recurrent acute respiratory tract infection, Resp... OMIM:620011
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Respiratory distress, Tremor, Microscopic hematuria, Abnormal renal ph... OMIM:274150
Interstitial Lung Disease 1
Ground-glass opacification, Intralobular septal thickening, Nonspecific interstitial pneumonia, D... OMIM:619611
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Short-Rib Thoracic Dysplasia 12
Atelectasis, Renal hypoplasia, Neonatal death, Pulmonary hypoplasia, Cystic renal dysplasia OMIM:269860
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Exertional dyspnea, Death in childhood, Respiratory distress, Glycosuria, Hyperphosphaturia, Prot... OMIM:220110
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Dyspnea, Dif... ORPHA:79127
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis OMIM:610733
Microphthalmia, Syndromic 9
Bilateral lung agenesis, Alveolar capillary dysplasia, Pelvic kidney, Pulmonary artery atresia, R... OMIM:601186
Birt-Hogg-Dubé Syndrome
Pneumothorax, Emphysema, Renal cell carcinoma, Pulmonary sequestration ORPHA:122
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Recurrent sinopulmonary infec... ORPHA:244
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis, Tremor, Exaggerated startle response OMIM:620327
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Renal duplication, Hydronephrosis ORPHA:96169
Relapsing Polychondritis
Glomerulopathy, Hematuria, Atelectasis, Dyspnea, Proteinuria, Abnormal pattern of respiration, Re... ORPHA:728
Diaphanospondylodysostosis
Enlarged kidney, Respiratory distress, Nephroblastomatosis, Nephrogenic rest, Pulmonary hypoplasi... OMIM:608022
Pfeiffer Syndrome Type 3
Respiratory distress, Hydronephrosis, Horseshoe kidney, Vesicoureteral reflux ORPHA:93260
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of the kidney, Hydroureter, Dyspnea, Abnormality of the upper urinary tract, Hydronep... ORPHA:2636
Combined Oxidative Phosphorylation Deficiency 30
Death in infancy, Respiratory distress OMIM:616974
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Tetrasomy 15Q26
Hydronephrosis, Horseshoe kidney OMIM:614846
Joubert Syndrome 37
Hydronephrosis, Micropenis OMIM:619185
Mucopolysaccharidosis-Plus Syndrome
Enlarged kidney, Death in childhood, Respiratory distress, Focal segmental glomerulosclerosis, Re... OMIM:617303
Holocarboxylase Synthetase Deficiency
Tachypnea, Organic aciduria, Respiratory distress ORPHA:79242
Suleiman-El-Hattab Syndrome
Recurrent respiratory infections, Hydronephrosis OMIM:618950
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Death in infancy, A... OMIM:265120
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Pleural effusion, Hydronephrosis, Pulmonary hypoplasia, Micropenis OMIM:616897
Farber Disease
Atelectasis, Respiratory distress, Diffuse reticular or finely nodular infiltrations, Recurrent u... ORPHA:333
Congenital Myopathy 10A, Severe Variant
Respiratory distress OMIM:614399
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Ectopic kidney, Unilateral renal agenesis, Renal insufficiency, Horseshoe kidney, Vesicoureteral ... OMIM:617641
Kleefstra Syndrome
Hypospadias, Hypoplasia of penis, Vesicoureteral reflux, Dyspnea, Renal cyst, Pulmonary artery st... ORPHA:261494
Phosphoribosylpyrophosphate Synthetase Superactivity
Death in childhood, Hypospadias, Renal insufficiency, Uric acid nephrolithiasis, Urolithiasis, Hy... OMIM:300661
Progressive Supranuclear Palsy-Corticobasal Syndrome
Focal dystonia, Tremor, Respiratory distress ORPHA:240103
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress OMIM:300580
Nipah Virus Disease
Tremor, Recurrent pharyngitis, Respiratory distress ORPHA:99825
Autosomal Recessive Spondylocostal Dysostosis
Anomalous pulmonary venous return, Hypospadias, Abnormality of the ureter ORPHA:2311
Brain-Lung-Thyroid Syndrome
Abnormal pulmonary interstitial morphology, Hypospadias, Recurrent respiratory infections, Respir... ORPHA:209905
Distal Triplication 15Q
Abnormality of the kidney, Polycystic kidney dysplasia, Hydronephrosis, Pulmonary hypoplasia, Nep... ORPHA:314588
46,Xy Sex Reversal 4
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:154230
Waardenburg Syndrome Type 3
Atelectasis ORPHA:896
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Hypoplasia of penis ORPHA:2083
22Q11.2 Duplication Syndrome
Hydronephrosis, Displacement of the urethral meatus, Urethral stenosis ORPHA:1727
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Renal neoplasm, Atelectasis, Torticollis, Repeated pneumothoraces, Respiratory distress, Pulmonar... ORPHA:536467
Congenital Tracheal Stenosis
Abnormal lung lobation, Abnormality of the kidney, Anomalous origin of left pulmonary artery from... ORPHA:141127
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis OMIM:104350
Melnick-Needles Syndrome
Recurrent respiratory infections, Hydronephrosis, Vesicoureteral reflux ORPHA:2484
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Hydronephrosis, Unilateral renal agenesis OMIM:618494
Fanconi Anemia
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Abnormal preputium morphology, Abnormality of... ORPHA:84
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Pulmonary artery atresia, Hydro... OMIM:301056
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Pneumothorax, Respiratory distress, Dyspnea, Parenchymal consolidation ORPHA:1302
Vacterl/Vater Association
Ectopic kidney, Hypospadias, Hypoplasia of penis, Renal agenesis, Hydronephrosis, Multicystic kid... ORPHA:887
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Methylmalonic aciduria, Homocystinuria OMIM:250940
Webb-Dattani Syndrome
Hyposthenuria, Neurogenic bladder, Hydronephrosis, Vesicoureteral reflux OMIM:615926
Hereditary Pulmonary Alveolar Proteinosis
Acute infectious pneumonia, Tachypnea, Crazy paving pattern, Respiratory distress ORPHA:264675
Mitochondrial Complex I Deficiency, Nuclear Type 37
Opisthotonus, Hypospadias, Respiratory distress OMIM:619272
Fraser Syndrome 2
Unilateral renal agenesis, Bilateral renal agenesis, Aplasia of the bladder, Renal agenesis, Rena... OMIM:617666
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Hypospadias OMIM:220210
Fliedner-Zweier Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Unilateral renal agenesis OMIM:620511
Tularemia
Abnormal pulmonary thoracic imaging finding, Respiratory distress, Pleural effusion, Pneumonia, P... ORPHA:3392
Congenital Myopathy 17
Renal hypoplasia, Hydronephrosis, Pulmonary hypoplasia, Respiratory tract infection, Ureteropelvi... OMIM:618975
Zygomycosis
Pneumothorax, Atelectasis, Acute infectious pneumonia, Pleural effusion, Parenchymal consolidatio... ORPHA:73263
Scalp-Ear-Nipple Syndrome
Abnormality of the kidney, Ureteral duplication, Recurrent urinary tract infections, Duplication ... ORPHA:2036
Folinic Acid-Responsive Seizures
Apnea, Dystonia, Respiratory distress ORPHA:79097
Glycogen Storage Disease Due To Acid Maltase Deficiency
Exertional dyspnea, Atelectasis, Respiratory distress, Orthopnea, Respiratory tract infection, Ol... ORPHA:365
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
X-Linked Centronuclear Myopathy
Pneumonia, Recurrent respiratory infections, Respiratory distress ORPHA:596
Genitopatellar Syndrome
Pulmonary hypoplasia, Apnea, Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Alagille Syndrome
Nephrotic syndrome, Renal hypoplasia/aplasia, Peripheral pulmonary artery stenosis, Abnormality o... ORPHA:52
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Trisomy 17P
Hypoplasia of penis, Polycystic kidney dysplasia, Urethral valve, Hydronephrosis, Urethral stenosis ORPHA:261290
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
Intellectual Developmental Disorder, Autosomal Dominant 73
Hydroureter OMIM:620450
Smith-Magenis Syndrome
Abnormal localization of kidney, Renal hypoplasia/aplasia, Abnormality of the ureter ORPHA:819
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Renal tubular epithelial necrosis, Hematuria, Dysuria, Nephrotic syndrome, R... ORPHA:49041
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress OMIM:245590
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Increased urinary glycerol, Dyspnea, Intermittent hyperventilation, Apneic ... ORPHA:348
Congenital Disorder Of Glycosylation, Type Iu
Death in infancy, Respiratory distress OMIM:615042
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Recurrent pneumonia, Respiratory distress ORPHA:254875
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormal localization of kidney, Hydronephrosis, Abnormality of the ureter ORPHA:1225
Peroxisome Biogenesis Disorder 4B
Ureterocele OMIM:614863
Auriculocondylar Syndrome 2A
Apnea, Respiratory distress OMIM:614669
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Recurrent urinary tract infections, Renal cyst, Renal hypoplasia, Hydr... OMIM:614527
Al-Gazali Syndrome
Recurrent pneumonia, Hydronephrosis OMIM:609465
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Stage 5 chronic kidney disease, Methylmalonic aciduria, Tubulointerstitial nephritis, Respiratory... OMIM:251000
Laryngotracheal Angioma
Apnea, Intercostal retractions, Respiratory distress ORPHA:137935
Erdheim-Chester Disease
Abnormal pulmonary interstitial morphology, Dysuria, Pleural effusion, Dyspnea, Hydronephrosis, P... ORPHA:35687
Trisomy 20P
Abnormality of the kidney, Hypospadias, Abnormality of the ureter, Hydronephrosis, Multiple renal... ORPHA:261318
Oculocerebrorenal Syndrome Of Lowe
Abnormal renal tubule morphology, Glomerulopathy, Hematuria, Atelectasis, Hypercalciuria, Nephrol... ORPHA:534
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Laryngomalacia
Respiratory distress OMIM:150280
Ciliary Dyskinesia, Primary, 1
Pneumonia, Recurrent bronchitis, Atelectasis, Bronchiectasis OMIM:244400
Tarp Syndrome
Hydronephrosis, Neonatal death, Horseshoe kidney, Athetosis OMIM:311900
Idiopathic Bronchiectasis
Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Dyspnea, Res... ORPHA:60033
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Recurrent respiratory infections, Abnormality of the ureter ORPHA:3253
3C Syndrome
Hypospadias, Hypoplasia of penis, Death in infancy, Hydronephrosis, Recurrent respiratory infections ORPHA:7
Carnitine Deficiency, Systemic Primary
Dicarboxylic aciduria, Respiratory distress OMIM:212140
Alport Syndrome
Thin glomerular basement membrane, Hematuria, Renal glomerular foam cells, Glomerular C3 depositi... ORPHA:63
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Nephropathy, Dyspnea, Microscopic hematuria, Thickened glomerular basement membrane, A... OMIM:308940
Oromandibular Dystonia
Torticollis, Respiratory distress, Blepharospasm, Lingual dystonia, Limb dystonia, Generalized dy... ORPHA:93958
3-Methylglutaconic Aciduria, Type Viib
3-Methylglutaconic aciduria, Respiratory distress, Tremor, Recurrent pneumonia, Opisthotonus, Dys... OMIM:616271
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Vesicoureteral reflux, Renal cyst, Renal hypoplasia, Hydronephrosis OMIM:618460
Exstrophy-Epispadias Complex
Penoscrotal transposition, Abnormality of the kidney, Epispadias, Urinary incontinence, Bifid pen... ORPHA:322
Microcephaly 26, Primary, Autosomal Dominant
Recurrent pneumonia, Hydronephrosis OMIM:619179
Johanson-Blizzard Syndrome
Death in infancy, Hydronephrosis, Hypospadias, Hypoplasia of penis ORPHA:2315
Toriello-Lacassie-Droste Syndrome
Epispadias, Hypospadias, Abnormality of the bladder, Abnormality of the ureter, Abnormal penis mo... ORPHA:3339
Diphallia
Penoscrotal transposition, Epispadias, Ureteral duplication, Bifid penis, Hypospadias, Distal ure... ORPHA:227
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, R... ORPHA:2273
Igg4-Related Aortitis
Hydronephrosis ORPHA:449400
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis, Dystonia ORPHA:457193
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Lacticaciduria OMIM:615595
X-Linked Intellectual Disability Due To Gria3 Mutations
Hydronephrosis, Micropenis ORPHA:364028
Zaki Syndrome
Renal agenesis, Hydronephrosis OMIM:619648
Primary Dystonia, Dyt4 Type
Torticollis, Respiratory distress, Blepharospasm, Upper limb postural tremor, Generalized dystoni... ORPHA:98805
Moebius Syndrome
Micropenis, Respiratory distress OMIM:157900
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Dyspnea, E... OMIM:612387
Zellweger Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Death in infancy ORPHA:912
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Pulmonary hypoplasia, Pneumothorax, Respiratory distress OMIM:620306
Cocaine Intoxication
Pneumothorax, Acute kidney injury, Pulmonary edema, Hyperventilation, Hematuria, Respiratory dist... ORPHA:90068
Coffin-Siris Syndrome 1
Hydroureter, Ectopic kidney, Hypospadias, Renal hypoplasia, Hydronephrosis, Recurrent respiratory... OMIM:135900
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Recurrent respiratory infections, Atelectasis ORPHA:2314
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress OMIM:613561
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis, Tremor, Dystonia OMIM:617557
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Death in childhood, Atelectasis, Recurrent respiratory infections, Dystonia, Pulmonary fibrosis, ... OMIM:618278
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hydronephrosis, Micropenis, Pulmonary lymphangiectasia, Death in infancy OMIM:235255
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hydronephrosis, Peripheral pulmonary artery stenosis OMIM:613001
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Hypoplasia of penis ORPHA:990
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Re... ORPHA:2237
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Pleural lymphangiectasia, Vesicoureteral reflux, Pleural effusion, Hydronephrosis... OMIM:235510
ERI1-related disease
Hydronephrosis, Vesicoureteral reflux OMIM:608739
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Renal cyst, Neonatal d... OMIM:263200
Methylmalonic Aciduria, Cbla Type
Elevated urine 3-hydroxypropionic acid level, Respiratory distress, Elevated urine 2-methylcitric... OMIM:251100
Cat Eye Syndrome
Vesicoureteral reflux, Total anomalous pulmonary venous return, Renal agenesis, Hydronephrosis, H... OMIM:115470
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Granulomatosis With Polyangiitis
Glomerulopathy, Hematuria, Pleuritis, Ureteral stenosis, Hydronephrosis, Proteinuria, Pulmonary f... ORPHA:900
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Urinary incontinence, Central apnea, Neonatal death, Respiratory distress OMIM:616482
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Recurrent respiratory infections, Hydronephrosis, Respiratory distress OMIM:300968
Feingold Syndrome Type 1
Abnormality of the kidney, Vesicoureteral reflux, Nephritis, Hydronephrosis, Renal dysplasia, Ren... ORPHA:391641
Chromosome 2P16.1-P15 Deletion Syndrome
Hydronephrosis, Micropenis, Recurrent upper respiratory tract infections OMIM:612513
Fryns Syndrome
Hypospadias, Vesicoureteral reflux, Hydronephrosis, Pulmonary hypoplasia, Multicystic kidney dysp... ORPHA:2059
X-Linked Dominant Chondrodysplasia Punctata
Abnormal lung morphology, Hydronephrosis ORPHA:35173
Branchio-Oculo-Facial Syndrome
Renal agenesis, Hydronephrosis, Multicystic kidney dysplasia ORPHA:1297
Neuromuscular Oculoauditory Syndrome
Reduced renal corticomedullary differentiation, Multiple renal cysts, Respiratory distress OMIM:618733
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Beckwith-Wiedemann Syndrome
Enlarged kidney, Ureteral duplication, Congenital megaureter, Hypercalciuria, Vesicoureteral refl... ORPHA:116
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Hydronephrosis, Hypospadias OMIM:616449
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Visceral Myopathy 1
Megacystis, Vesicoureteral reflux, Urinary retention, Hydronephrosis OMIM:155310
Congenital Disorder Of Glycosylation, Type Ig
Hypospadias, Respiratory distress, Recurrent pneumonia, Recurrent upper respiratory tract infecti... OMIM:607143
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Irregular respiration, Death in infancy, Limb dystonia, Respiratory distress OMIM:604377
Chitayat Syndrome
Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Respiratory distress OMIM:617180
Micro Syndrome
Abnormal localization of kidney, Hydronephrosis, Hypoplasia of penis ORPHA:2510
Diamond-Blackfan Anemia 10
Renal duplication, Ectopic kidney, Respiratory distress OMIM:613309
Hoxha-Aliu Syndrome
Hydronephrosis, Vesicoureteral reflux OMIM:620662
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Dyspnea, Respiratory distress ORPHA:86812
Duane-Radial Ray Syndrome
Vesicoureteral reflux, Renal agenesis, Renal hypoplasia, Hydronephrosis, Crossed fused renal ecto... OMIM:607323
Microlissencephaly-Micromelia Syndrome
Fetal pyelectasis, Respiratory distress ORPHA:50810
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Pulmonary artery atresia, Total anomalous pulmonary venous return, Ureteral... OMIM:270100
Fryns Syndrome
Stillbirth, Ureteral duplication, Hypospadias, Chylothorax, Renal cyst, Renal agenesis, Hydroneph... OMIM:229850
Congenital Pulmonary Lymphangiectasia
Pleural effusion, Respiratory distress ORPHA:2414
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Osteogenesis Imperfecta, Type X
Recurrent pneumonia, Nephrolithiasis, Death in childhood, Respiratory distress OMIM:613848
Goodpasture Syndrome
Ground-glass opacification, Exertional dyspnea, Reticular pattern on pulmonary HRCT, Glomerular c... OMIM:233450
Congenital Disorder Of Glycosylation, Type Ie
Tremor, Respiratory distress OMIM:608799
Alg9-Cdg
Abnormal lung lobation, Enlarged kidney, Torticollis, Abnormal renal artery morphology, Ureteral ... ORPHA:79328
Teebi-Shaltout Syndrome
Hydronephrosis, Horseshoe kidney, Ureteral stenosis OMIM:272950
Slc35A1-Cdg
Pneumonia, Pulmonary hemorrhage, Respiratory distress ORPHA:238459
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Recurrent lower respiratory tract infections, Renal artery stenosis, Renal hypoplasia, Nephrocalc... OMIM:617913
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Respiratory distress OMIM:618201
Congenital Disorder Of Glycosylation, Type Iig
Hydronephrosis, Hemolytic-uremic syndrome, Hypospadias, Renal insufficiency OMIM:611209
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Recurrent respiratory infections, Dyspnea, Respiratory distress ORPHA:2759
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress ORPHA:1143
Congenital Alveolar Capillary Dysplasia
Hydronephrosis, Respiratory distress ORPHA:210122
Odontochondrodysplasia
Death in infancy, Respiratory distress ORPHA:166272
15Q Overgrowth Syndrome
Abnormal renal morphology, Hydronephrosis, Nephroblastoma, Ureterovesical stenosis, Horseshoe kidney ORPHA:314585
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Atelectasis, Hypospadias, Polycystic kidney dysplasia, Vesicoureteral ref... ORPHA:567
Peutz-Jeghers Syndrome
Bladder polyp, Abnormality of the ureter OMIM:175200
Congenital Disorder Of Glycosylation, Type Iiaa
Hydronephrosis, Unilateral renal agenesis OMIM:620454
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Death in infancy, Tachypnea, Respiratory distress OMIM:614299
Mosaic Trisomy 9
Abnormal lung lobation, Hypoplasia of penis, Hydronephrosis, Multiple renal cysts, Renal dysplasi... ORPHA:99776
Toxic Epidermal Necrolysis
Respiratory distress, Dysuria, Abnormal pleura morphology, Recurrent respiratory infections, Rena... ORPHA:537
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Recurrent lower respiratory tract infections ORPHA:258
Pulmonary Alveolar Microlithiasis
Ground-glass opacification, Pneumothorax, Pleural thickening, Hematuria, Exertional dyspnea, Bron... ORPHA:60025
Musculocontractural Ehlers-Danlos Syndrome
Pneumothorax, Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe k... ORPHA:2953
Early Infantile Epileptic Encephalopathy
Tremor, Ureterocele, Dystonia, Renal dysplasia, Choreoathetosis, Micropenis ORPHA:1934
Otopalatodigital Syndrome Type 2
Ureteral obstruction, Hydronephrosis, Pulmonary hypoplasia, Hypospadias ORPHA:90652
Anaplastic Thyroid Carcinoma
Dyspnea, Neoplasm of the lung, Respiratory distress ORPHA:142
Mckusick-Kaufman Syndrome
Renal hypoplasia/aplasia, Glandular hypospadias, Urogenital sinus anomaly, Hydronephrosis, Urethr... ORPHA:2473
Bacterial Toxic-Shock Syndrome
Respiratory distress, Recurrent urinary tract infections, Respiratory tract infection, Pneumonia,... ORPHA:36234
Peroxisome Biogenesis Disorder 1A (Zellweger)
Death in childhood, Hypospadias, Renal cortical microcysts, Hydronephrosis, Pulmonary hypoplasia,... OMIM:214100
Stromme Syndrome
Stillbirth, Hydronephrosis, Bilateral renal hypoplasia OMIM:243605
Alpha-1-Antitrypsin Deficiency
Nephrotic syndrome, Bronchitis, Emphysema, Bronchiectasis ORPHA:60
Hemorrhagic Fever-Renal Syndrome
Acute kidney injury, Pneumonia, Pulmonary edema, Hematuria, Decreased glomerular filtration rate,... ORPHA:340
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Micropenis, Respiratory distress ORPHA:2519
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hydronephrosis, Duplicated collecting system ORPHA:541423
Mosaic Trisomy 8
Hydronephrosis, Vesicoureteral reflux ORPHA:96061
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal renal morphology, Hydronephrosis, Micropenis, Pulmonary lymphangiectasia ORPHA:1655
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Abnormal pulmonary interstitial morphology, Decreased glomerular filtration rate, Respiratory dis... OMIM:614748
Ethylene Glycol Poisoning
Pulmonary edema, Renal tubular epithelial necrosis, Hematuria, Decreased urine output, Tachypnea,... ORPHA:31826
Melnick-Needles Syndrome
Stillbirth, Recurrent respiratory infections, Hydronephrosis, Ureteral stenosis OMIM:309350
Congenital Disorder Of Glycosylation, Type It
Hydronephrosis, Dyspnea OMIM:614921
Brown-Vialetto-Van Laere Syndrome 1
Nocturnal hypoventilation, Death in childhood, Respiratory distress, Dyspnea, Recurrent respirato... OMIM:211530
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
3-Methylglutaconic aciduria, Abnormal renal collecting system morphology, Hypospadias, Respirator... ORPHA:17
15q26 overgrowth syndrome
Abnormality of the kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Renal agenesis, Hy... DECIPHER:81
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Hydronephrosis, Vesicoureteral reflux OMIM:620663
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hydronephrosis ORPHA:1358
Acrorenal-Mandibular Syndrome
Polycystic kidney dysplasia, Aplasia of the bladder, Abnormality of the ureter, Renal agenesis, P... OMIM:200980
Whim Syndrome
Atelectasis, Bronchiectasis, Recurrent pneumonia, Respiratory tract infection, Recurrent upper re... ORPHA:51636
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Pulmonary hypoplasia, Pulmonary artery atresia, Dystonia OMIM:620371
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system OMIM:617093
Ciliary Dyskinesia, Primary, 2
Bronchiectasis, Recurrent respiratory infections, Respiratory distress OMIM:606763
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Hydronephrosis, Death in infancy OMIM:608779
2P15P16.1 Microdeletion Syndrome
Recurrent respiratory infections, Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
Castleman Disease
Hematuria, Ureteral obstruction, Renal insufficiency, Dyspnea ORPHA:160
Intellectual Developmental Disorder, Autosomal Dominant 53
Hydronephrosis, Micropenis OMIM:617798
Episodic Ataxia Type 1
Choreoathetosis, Respiratory distress ORPHA:37612
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormality of the kidney, Hypoplasia of penis, Recurrent urinary tract infections, Death in infa... ORPHA:847
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress OMIM:620375
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Enlarged kidney, Respiratory distress, Pleural effusion, Apnea OMIM:261740
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hydronephrosis, Hypospadias OMIM:616737
Pauci-Immune Glomerulonephritis
Acute kidney injury, Abnormality of the pulmonary vasculature, Decreased glomerular filtration ra... ORPHA:93126
1Q21.1 Microdeletion Syndrome
Hydronephrosis, Vesicoureteral reflux ORPHA:250989
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Ureteral duplication, Nephronophthisis, Recurrent respiratory infections, Re... OMIM:266920
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Pulmonary hypoplasia, Urethral atresia OMIM:271520
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Tarp Syndrome
Apnea, Hydronephrosis, Pulmonary hypoplasia, Horseshoe kidney ORPHA:2886
Digeorge Syndrome
Atelectasis, Unilateral renal agenesis, Recurrent sinusitis, Hydronephrosis, Recurrent pneumonia,... OMIM:188400
Knobloch Syndrome
Vesicoureteral reflux, Bifid ureter ORPHA:1571
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal bladder morphology, Hydronephrosis, Pleural effusion, Vesicoureteral reflux ORPHA:453499
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Hydronephrosis, Vesicoureteral reflux OMIM:610443
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Shwachman-Diamond Syndrome 1
Nephrocalcinosis, Respiratory distress OMIM:260400
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Methylmalonic aciduria, Ketonuria OMIM:251110
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis, Respiratory distress OMIM:618188
Kabuki Syndrome
Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Hypoplasia of penis, Hydrone... ORPHA:2322
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Hypoventilation, Respiratory distress, Aspiration pneumonia, Apnea, Recurrent pneumonia ORPHA:314655
Developmental Delay With Or Without Dysmorphic Facies And Autism
Vesicoureteral reflux, Renal cyst, Microphallus, Renal hypoplasia, Hydronephrosis OMIM:618454
Focal Dermal Hypoplasia
Abnormality of the pulmonary vasculature, Renal hypoplasia/aplasia, Hydronephrosis, Multicystic k... ORPHA:2092
Thauvin-Robinet-Faivre Syndrome
Renal cyst, Bifid ureter, Renal dysplasia, Renal malrotation, Nephroblastoma OMIM:617107
Biotinidase Deficiency
Respiratory distress, Apnea, Organic aciduria, Hyperventilation ORPHA:79241
Cerebellar-Facial-Dental Syndrome
Ureteropelvic junction obstruction, Hydronephrosis ORPHA:444072
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Stillbirth, Hydronephrosis, Pulmonary hypoplasia, Unilateral renal agenesis OMIM:308050
Autosomal Recessive Spastic Paraplegia Type 20
Dysuria, Hydronephrosis ORPHA:101000
8P Inverted Duplication/Deletion Syndrome
Abnormality of the urinary system, Hydronephrosis, Micropenis ORPHA:96092
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Enlarged kidney, Respiratory distress, Nephrotic syndrome, Proteinuria, Recurrent respiratory inf... ORPHA:505248
Thrombocytopenia-Absent Radius Syndrome
Renal malrotation, Ureteral duplication, Vesicoureteral reflux, Death in infancy, Axial malrotati... OMIM:274000
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Pelvic kidney, Hydronephrosis, Micropenis, Vesicoureteral reflux OMIM:618653
Mitochondrial Dna-Associated Leigh Syndrome
Abnormal renal tubule morphology, Hyperventilation, Multiple glomerular cysts, Dyspnea, Dystonia,... ORPHA:255210
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Oligosacchariduria, Respiratory tract infection, Respiratory distress ORPHA:308552
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Tuberous Sclerosis Complex
Abnormality of the kidney, Respiratory distress, Polycystic kidney dysplasia, Renal cell carcinom... ORPHA:805
Sacral Agenesis With Vertebral Anomalies
Neonatal death, Unilateral renal agenesis, Persistent cloaca OMIM:615709
Neuroblastoma
Elevated urinary homovanillic acid, Elevated urinary catecholamine level, Elevated urinary vanill... ORPHA:635
Basel-Vanagaite-Smirin-Yosef Syndrome
Recurrent pneumonia, Male urethral meatus stenosis, Hydronephrosis, Hypospadias ORPHA:464738
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Limb dystonia, Ureteropelvic junction obstruction, Hydronephrosis, Dystonia OMIM:616973
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Nephrotic syndrome, Pneumonia, Interstitial pneumonitis, Recurrent respirat... ORPHA:37042
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress ORPHA:1145
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Pulmonary hypoplasia, Opisthotonus, Neonatal death OMIM:608013
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Colchicine Poisoning
Oliguria, Renal insufficiency, Respiratory distress ORPHA:31824
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Recurrent respiratory infections, Respiratory distress OMIM:619383
Schinzel-Giedion Syndrome
Hypospadias, Respiratory distress, Nephrolithiasis, Renal cyst, Abnormality of the ureter, Hydron... ORPHA:798
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Stillbirth, Pulmonary hypoplasia, Respiratory distress OMIM:151210
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Renal agenesis, Hydronephrosis, Micropenis, Hypospadias OMIM:301040
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Pulmonary hypoplasia, Respiratory distress OMIM:617895
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Hypospadias, Respiratory distress OMIM:217980
Vater/Vacterl Association
Ectopic kidney, Hypospadias, Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Ureteropelvic... OMIM:192350
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Q Fever
Abnormal pulmonary interstitial morphology, Hematuria, Respiratory distress, Pleural effusion, Pn... ORPHA:781
Schwartz-Jampel Syndrome
Blepharospasm, Nephrolithiasis, Abnormality of the ureter, Death in infancy, Apnea, Abnormality o... ORPHA:800
Thyroid Lymphoma
Dyspnea, Respiratory distress ORPHA:97285
Coccidioidomycosis
Abnormality of the kidney, Respiratory distress, Abnormality of the bladder, Pleural empyema, Par... ORPHA:228123
Agnathia-Otocephaly Complex
Pulmonary hypoplasia, Respiratory distress OMIM:202650
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Granulomatous Disease, Chronic, X-Linked
Air bronchogram, Pleural effusion, Recurrent pneumonia, Atelectasis OMIM:306400
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress ORPHA:100057
Acquired Methemoglobinemia
Dyspnea, Respiratory distress ORPHA:464453
Ciliary Dyskinesia, Primary, 20
Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Recurrent sinusitis, Bronchiectasis,... OMIM:615067
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Trisomy 8P
Abnormal lung lobation, Nephrocalcinosis, Hydronephrosis, Fetal pyelectasis, Recurrent upper resp... ORPHA:264450
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Micropenis ORPHA:464311
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Poland Syndrome
Renal hypoplasia/aplasia, Hypospadias, Duplicated collecting system, Vesicoureteral reflux, Urete... ORPHA:2911
Opitz Gbbb Syndrome
Hypospadias, Vesicoureteral reflux, Hydronephrosis, Recurrent aspiration pneumonia, Abnormality o... ORPHA:2745
Au-Kline Syndrome
Dilatation of the renal pelvis, Chronic kidney disease, Hydronephrosis, Vesicoureteral reflux OMIM:616580
Occipital Horn Syndrome
Ureteral obstruction, Hydronephrosis, Bladder diverticulum OMIM:304150
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent lower respiratory tract infections, Recurrent urinary tract infections, Hydronephrosis,... OMIM:612541
Restrictive Dermopathy 1
Stillbirth, Ureteral duplication, Hypospadias, Neonatal death, Pulmonary hypoplasia OMIM:275210
Japanese Encephalitis
Pill-rolling tremor, Pulmonary edema, Respiratory distress, Tremor, Irregular respiration, Dyston... ORPHA:79139
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pulmonary artery stenosis, Ureteral duplication, Respiratory distress ORPHA:2255
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Recurrent bronchitis, Hydronephrosis, Recurrent pneumonia, Br... OMIM:251260
Eec Syndrome
Renal hypoplasia/aplasia, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Urethral atresia ORPHA:1896
Autosomal Recessive Cutis Laxa Type 1
Pneumothorax, Multiple bladder diverticula, Emphysema, Recurrent urinary tract infections, Vesico... ORPHA:90349
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Death in infancy, Respiratory distress, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic ac... OMIM:617156
Esophageal Atresia
Respiratory distress, Bronchitis, Renal agenesis, Pulmonary hypoplasia, Recurrent respiratory inf... ORPHA:1199
Mogs-Cdg
Hypoventilation, Pulmonary edema, Respiratory distress, Apnea, Dystonia ORPHA:79330
Listeriosis
Acute kidney injury, Respiratory distress, Miscarriage, Tremor, Pneumonia, Pyelonephritis ORPHA:533
Knobloch Syndrome 1
Renal duplication, Hydronephrosis, Bifid ureter, Duplicated collecting system OMIM:267750
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Congenital Disorder Of Deglycosylation 1
3-Methylglutaconic aciduria, Respiratory distress, Keratan sulfate excretion in urine, Athetosis,... OMIM:615273
Sepsis In Premature Infants
Oliguria, Reversible renal failure, Dyspnea, Nasal flaring ORPHA:90051
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress OMIM:620166
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Recurrent respiratory infections, Respiratory distress ORPHA:329178
Microphthalmia, Syndromic 1
Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Renal hypoplasia, Pulmonary hypoplasia OMIM:309800
Frontometaphyseal Dysplasia
Ureteral obstruction, Hydronephrosis, Urethral stenosis ORPHA:1826
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Pelvic kidney, Renal cyst, Hydronephrosis, Micropenis ORPHA:464306
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Dystonia, Exaggerated startle response, Respiratory distress ORPHA:438216
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia ORPHA:564
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Penoscrotal hypospadias, Unilateral renal agenesis, Hypospadias, Duplicat... OMIM:270400
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Hydronephrosi... ORPHA:818
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary hypoplasia, Respiratory distress ORPHA:3309
Skin Creases, Congenital Symmetric Circumferential, 2
Ureterocele, Hypospadias OMIM:616734
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Enlarged kidney, Bifid ureter, Nephroblastoma, Renal malrotation, Multicystic kidney dysplasia ORPHA:500095
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Pulmonary artery stenosis, Ureteropelvic junction obstruction, Hydr... OMIM:280000
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
N-Acetylglutamate Synthase Deficiency
Tachypnea, Respiratory distress OMIM:237310
Triosephosphate Isomerase Deficiency
Respiratory distress, Tremor, Death in adolescence, Death in infancy, Dystonia OMIM:615512
Congenital Tracheomalacia
Pneumothorax, Emphysema, Intercostal retractions, Dyspnea, Parenchymal consolidation, Bronchiecta... ORPHA:95430
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urinary incontinence, Hypospadias, Pelvic kidney, Grade III vesicoureteral reflux, Enuresis, Exag... OMIM:619522
Cardiofaciocutaneous Syndrome 1
Hydronephrosis OMIM:115150
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Hemolytic-uremic syndrome, Respiratory distress, Methylmalonic aciduria, Renal in... ORPHA:79282
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress ORPHA:226313
Osteogenesis Imperfecta, Type Vii
Hypoplastic pulmonary veins, Hydronephrosis, Absent pulmonary artery, Death in infancy OMIM:610682
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Pneumonia, Tachypnea, Episodic tachypnea, Respiratory distress ORPHA:26793
Distal Deletion 12Q
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Micropenis ORPHA:96149
Synaptic Congenital Myasthenic Syndromes
Hypoventilation, Exertional dyspnea, Recurrent lower respiratory tract infections, Respiratory di... ORPHA:98915
Meier-Gorlin Syndrome 1
Death in infancy, Emphysema, Micropenis, Respiratory distress OMIM:224690
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory distress ORPHA:2707
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Death in infancy, Hydronephrosis, Recurrent respiratory infections, Multicys... ORPHA:1507
Beare-Stevenson Cutis Gyrata Syndrome
Hypospadias, Respiratory distress OMIM:123790
Orofaciodigital Syndrome Type 1
Renal insufficiency, Tremor, Hydronephrosis, Dystonia, Proteinuria, Multicystic kidney dysplasia ORPHA:2750
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Vesicoureteral reflux, Nephrolithiasis, Exaggerated startle response, Aspiration... ORPHA:438213
Cardiofaciocutaneous Syndrome
Hydronephrosis ORPHA:1340
Proboscis Lateralis
Duplication of renal pelvis, Ureteral agenesis, Unilateral renal agenesis ORPHA:141099
Scimitar Syndrome
Pneumothorax, Bronchogenic cyst, Respiratory distress, Pulmonary sequestration, Pulmonary artery ... ORPHA:185
Cousin Syndrome
Hydronephrosis OMIM:260660
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Hydronephrosis, Hypospadias, Total anomalous pulmonary venous return ORPHA:487796
Craniofacioskeletal Syndrome
Hydronephrosis, Hypospadias OMIM:300712
Peters Plus Syndrome
Renal hypoplasia/aplasia, Ureteral duplication, Hypospadias, Abnormal pulmonary vein morphology, ... ORPHA:709
Trisomy 18
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:3380
7Q11.23 Microduplication Syndrome
Unilateral renal agenesis, Hydronephrosis, Hypospadias, Enuresis ORPHA:96121
Heart Defects, Congenital, And Other Congenital Anomalies
Pulmonary artery stenosis, Glycosuria, Ureteral duplication OMIM:600001
Lymphatic Malformation 7
Chylothorax, Pulmonary edema, Pleural effusion, Respiratory distress OMIM:617300
Monosomy 22Q13.3
Renal dysplasia, Hydronephrosis, Recurrent pyelonephritis, Vesicoureteral reflux ORPHA:48652
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Chylothorax, Death in childhood, Death in infancy, Respiratory distress OMIM:620278
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Dyspnea, Respiratory distress OMIM:115197
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in childhood, Recurrent lower respiratory tract infections, Respiratory distress, Death in ... OMIM:618426
Nasolacrimal Duct Cyst
Episodic respiratory distress, Paroxysmal dyspnea, Intercostal retractions ORPHA:141083
Sotos Syndrome
Abnormality of the kidney, Ureteral duplication, Small cell lung carcinoma, Hypospadias, Phimosis... ORPHA:821
Meckel Syndrome, Type 1
Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Pulmonary hypoplasia, Hyp... OMIM:249000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Nocturnal hypoventilation, Hydronephrosis, Vesicoureteral reflux ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Nocturnal hypoventilation, Hydronephrosis, Vesicoureteral reflux ORPHA:352665
Prader-Willi Syndrome Due To Translocation
Abnormality of the kidney, Recurrent respiratory infections, Respiratory distress ORPHA:177907
Jacobsen Syndrome
Recurrent respiratory infections, Hydronephrosis, Multicystic kidney dysplasia, Death in infancy ORPHA:2308
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Respiratory distress, Total anomalous pulmonary venous return, Renal agenesis, B... OMIM:306955
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis, Tremor, Dystonia ORPHA:506358
Arboleda-Tham Syndrome
Respiratory distress, Recurrent urinary tract infections, Hydronephrosis, Recurrent aspiration pn... OMIM:616268
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydronephrosis, Micropenis, Hypospadias ORPHA:163979
Choanal Atresia
Recurrent respiratory infections, Respiratory distress ORPHA:137914
Congenital Enterovirus Infection
Pleural effusion, Respiratory distress ORPHA:292
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Peripheral pulmonary artery stenosis, Emphysema, Bladder divert... OMIM:219100
Campomelic Dysplasia
Hypospadias, Recurrent lower respiratory tract infections, Respiratory distress, Apnea, Hydroneph... OMIM:114290
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Pulmonary hypoplasia, Hydronephrosis, Micropenis, Respiratory distress ORPHA:83617
Koolen-De Vries Syndrome Due To A Point Mutation
Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Fetal pye... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Fetal pye... ORPHA:363958
Infantile Krabbe Disease
Opisthotonus, Respiratory distress ORPHA:206436
Dubowitz Syndrome
Hydronephrosis, Hypospadias ORPHA:235
Achondroplasia
Death in infancy, Pulmonary hypoplasia, Respiratory distress OMIM:100800
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Dilatation of renal calices, Pelvic kidney, Nasal flaring ORPHA:466943
Ear-Patella-Short Stature Syndrome
Epispadias, Hypospadias, Respiratory distress, Hypoplasia of penis, Dyspnea ORPHA:2554
Craniofaciofrontodigital Syndrome
Dyspnea, Respiratory distress ORPHA:363705
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis OMIM:612852
Apert Syndrome
Hydronephrosis OMIM:101200
Kniest Dysplasia
Respiratory distress OMIM:156550
Gitelman Syndrome
Urinary incontinence, Renal tubular acidosis, Renal potassium wasting, Respiratory distress, Foca... ORPHA:358
Ileal Neuroendocrine Tumor
Hydronephrosis ORPHA:100078
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Adnp Syndrome
Respiratory distress, Recurrent urinary tract infections, Urinary incontinence, Recurrent upper r... ORPHA:404448
3Mc Syndrome 1
Hydronephrosis OMIM:257920
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Chime Syndrome
Abnormality of the kidney, Hydronephrosis ORPHA:3474
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis, Hydronep... ORPHA:353281
Robinow Syndrome, Autosomal Recessive 1
Hypospadias, Nephrolithiasis, Hydronephrosis, Renal duplication, Nephrocalcinosis, Micropenis OMIM:268310
Cryptococcosis
Pneumonia, Respiratory distress, Pleural effusion, Dyspnea, Nodular pattern on pulmonary HRCT ORPHA:1546
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Episodic respiratory distress, Apneic episodes precipitated by ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Episodic respiratory distress, Apneic episodes precipitated by ... ORPHA:98914
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress ORPHA:367
Osteopetrosis With Renal Tubular Acidosis
Renal tubular acidosis, Nephrolithiasis, Hydronephrosis, Proximal renal tubular acidosis, Distal ... ORPHA:2785
Restrictive Dermopathy
Ureteral duplication, Pulmonary hypoplasia, Hypospadias ORPHA:1662
Hydrolethalus Syndrome 1
Abnormal lung lobation, Stillbirth, Hydronephrosis, Hypospadias OMIM:236680
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Recurrent aspiration pneumonia, Hydronephrosis, Crossed fused... OMIM:147920
Floating-Harbor Syndrome
Hypospadias, Polycystic kidney dysplasia, Renal cyst, Renal agenesis, Nephrocalcinosis, Hydroneph... ORPHA:2044
Focal Dermal Hypoplasia
Bifid ureter, Ureteral duplication, Horseshoe kidney, Hydronephrosis OMIM:305600
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Alternating Hemiplegia Of Childhood
Respiratory distress, Tremor, Apnea, Dystonia, Choreoathetosis ORPHA:2131
Okamoto Syndrome
Ureteropelvic junction obstruction, Urinary incontinence, Hydronephrosis, Unilateral renal hypopl... ORPHA:2729
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Nephrotic syndrome, Hydronephrosis, Pneumothorax OMIM:601776
Osteoglophonic Dysplasia
Chordee, Hypospadias, Respiratory distress OMIM:166250
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
8Q24.3 Microdeletion Syndrome
Abnormal lung lobation, Abnormality of the kidney, Unilateral renal agenesis, Respiratory distres... ORPHA:508488
Robinow Syndrome
Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Webbed penis ORPHA:97360
Congenital Myopathy 22B, Severe Fetal
Pulmonary hypoplasia, Pleural effusion, Respiratory distress OMIM:620369
Leptospirosis
Acute kidney injury, Respiratory distress, Pleural effusion, Cellular urinary casts, Pulmonary he... ORPHA:509
Doors Syndrome
Respiratory distress, Aspiration pneumonia, Hydronephrosis, Increased urine alpha-ketoglutarate c... ORPHA:79500
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Horseshoe kidney, Respiratory distress OMIM:617088
Bardet-Biedl Syndrome
Hypoplasia of penis, Neurogenic bladder, Vesicoureteral reflux, Nephrotic syndrome, Hydronephrosi... ORPHA:110
Ulbright-Hodes Syndrome
Pneumothorax, Respiratory distress, Polycystic kidney dysplasia, Renal hypoplasia, Pulmonary hypo... ORPHA:3404
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Tetrasomy 9P
Recurrent urinary tract infections, Hydronephrosis, Pulmonary hypoplasia, Multiple renal cysts, R... ORPHA:3310
Sarcoidosis, Susceptibility To, 1
Abnormal pulmonary interstitial morphology, Emphysema, Hypercalciuria, Pleural effusion, Dyspnea,... OMIM:181000
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress ORPHA:1555
Arterial Tortuosity Syndrome
Pulmonary artery stenosis, Dyspnea, Respiratory distress ORPHA:3342
Rubinstein-Taybi Syndrome 1
Hypospadias, Respiratory distress, Hydronephrosis, Respiratory tract infection, Recurrent upper r... OMIM:180849
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:615287
Nocardiosis
Pneumothorax, Emphysema, Pleuritis, Respiratory distress, Pleural effusion, Dyspnea, Pneumonia ORPHA:31204
Microphthalmia With Linear Skin Defects Syndrome
Epispadias, Hypospadias, Respiratory distress, Dyspnea, Abnormal penis morphology ORPHA:2556
Rodrigues Blindness
Nasal flaring OMIM:268320
Mgat2-Cdg
Recurrent upper and lower respiratory tract infections, Respiratory distress ORPHA:79329
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Recurrent pneumonia, Recurrent bronchitis, Hydronephrosis, Dystonia OMIM:620330
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Acute kidney injury, Renal tubular epithelial necrosis, Hematuria, Respiratory distress, Dysuria,... ORPHA:95455
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Hydronephrosis, Congenital posterior urethr... OMIM:136140
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormality of the kidney, Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormality of the kidney, Hypospadias, Recurrent urinary tract infections, Vesicoureteral reflux... ORPHA:353277
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Renal cyst, Renal hypoplasia, Urethrovaginal fistula, Hydronephrosis, Pulmon... ORPHA:93271
Charge Syndrome
Hydronephrosis, Micropenis, Horseshoe kidney, Vesicoureteral reflux ORPHA:138
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pleural effusion, Dyspnea, Pulmonary fibrosis, Pulmonary infiltrates ORPHA:3260
Pfeiffer Syndrome Type 2
Respiratory distress ORPHA:93259
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Hydronephrosis, Vesicoureteral reflux ORPHA:2363
Peters-Plus Syndrome
Renal hypoplasia, Ureteral duplication, Hypospadias, Hydronephrosis OMIM:261540
1P36 Deletion Syndrome
Abnormality of the kidney, Hypospadias, Hypoplasia of penis, Renal cyst, Hydronephrosis ORPHA:1606
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress OMIM:183900
Biliary, Renal, Neurologic, And Skeletal Syndrome
Recurrent lower respiratory tract infections, Recurrent respiratory infections, Medullary nephroc... OMIM:619534
Wiedemann-Rautenstrauch Syndrome
Hypospadias, Dilatation of renal calices, Recurrent urinary tract infections, Vesicoureteral refl... ORPHA:3455
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Renal dysplasia, Recurrent upper and lower respiratory tract infections, Hydronephrosis, Respirat... ORPHA:480880
Hereditary Angioedema Type 1
Dyspnea, Respiratory distress ORPHA:100050
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Dystonia, Respiratory distress OMIM:256810
Robinow Syndrome, Autosomal Dominant 1
Hydronephrosis, Micropenis, Renal duplication OMIM:180700
Liver Disease, Severe Congenital
Pulmonary edema, Hypospadias, Recurrent urinary tract infections, Alpha-aminobutyric aciduria, Hy... OMIM:619991
Genitopatellar Syndrome
Pulmonary hypoplasia, Hydronephrosis, Micropenis, Multicystic kidney dysplasia OMIM:606170
Eisenmenger Syndrome
Aortopulmonary window, Renal insufficiency, Exertional dyspnea, Respiratory distress ORPHA:97214
Ramos-Arroyo Syndrome
Respiratory distress ORPHA:1051
Simpson-Golabi-Behmel Syndrome, Type 1
Abnormal lung lobation, Enlarged kidney, Hypospadias, Total anomalous pulmonary venous return, Re... OMIM:312870
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal renal morphology, Renal hypoplasia/aplasia, Hydronephrosis ORPHA:363700
Complete Atrioventricular Septal Defect
Tachypnea, Recurrent pneumonia, Intercostal retractions ORPHA:1329
Otopalatodigital Syndrome, Type Ii
Stillbirth, Hydronephrosis, Hypospadias OMIM:304120
Oculopharyngodistal Myopathy 1
Tremor, Respiratory distress OMIM:164310
Viss Syndrome
Pneumothorax, Pulmonary artery aneurysm, Emphysema, Dyspnea, Hydronephrosis OMIM:619472
Acrofacial Dysostosis, Cincinnati Type
Pulmonary artery stenosis, Pulmonary artery aneurysm, Hydronephrosis, Laryngeal dystonia OMIM:616462
Generalized Arterial Calcification Of Infancy
Respiratory distress, Medullary nephrocalcinosis, Hyperphosphaturia, Nephrocalcinosis, Cortical n... ORPHA:51608
Charge Syndrome
Pulmonary artery atresia, Renal agenesis, Renal hypoplasia, Hydronephrosis, Micropenis, Horseshoe... OMIM:214800
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re... ORPHA:261537
Aortic Arch Interruption
Tachypnea, Aortopulmonary window, Exertional dyspnea, Respiratory distress ORPHA:2299
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvic kidney, Vesicoureteral re... ORPHA:261552
Mowat-Wilson Syndrome
Abnormality of the kidney, Urinary incontinence, Hypospadias, Multicystic kidney dysplasia, Pelvi... ORPHA:2152
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Recurrent pneumonia, D-2-hydroxyglutaric aciduria, Unilateral renal agenesis, Respiratory distress ORPHA:99646
Kasabach-Merritt Phenomenon
Hypopnea, Respiratory distress ORPHA:2330
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress OMIM:305100
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Exertional dyspnea, Cardiac total anoma... ORPHA:99125
Johanson-Blizzard Syndrome
Death in childhood, Hypospadias, Urethrovaginal fistula, Hydronephrosis, Micropenis OMIM:243800
Isolated Arrhinia
Respiratory distress ORPHA:1134
Cleidocranial Dysplasia 1
Respiratory distress OMIM:119600
Stüve-Wiedemann Syndrome
Apnea, Respiratory distress ORPHA:3206
Alström Syndrome
Detrusor sphincter dyssynergia, Urinary incontinence, Respiratory distress, Recurrent urinary tra... ORPHA:64
Pmm2-Cdg
Abnormal renal tubule morphology, Respiratory distress, Aspiration pneumonia, Nephrotic syndrome,... ORPHA:79318
Plague
Acute infectious pneumonia, Respiratory distress ORPHA:707

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tshz3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tshz3.

No publications found that use IMPC mice or data for Tshz3.

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Tshz3tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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