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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 urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... 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
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Bardet-Biedl Syndrome 16
Bronchiolitis, Renal agenesis, Respiratory distress, Stage 5 chronic kidney disease, Renal insuff... OMIM:615993
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Abnormality of the upper urinary tract, Hypoplasia of penis, Abnormality of the bladder, Hydroureter ORPHA:2547
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... ORPHA:2970
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Neonatal death, Hydroureter, Fetal megacystis OMIM:619362
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Congenital posterior urethral valve OMIM:100100
Macdermot-Winter Syndrome
Hydronephrosis, Death in infancy OMIM:247990
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Unilateral renal agenesis, Bilateral renal agenesis, Death in infancy, Ureteral atresia OMIM:618845
Myotubular Myopathy With Abnormal Genital Development
Atelectasis, Respiratory distress, Glandular hypospadias, Penile hypospadias, Death in infancy, N... OMIM:300219
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:619466
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ... OMIM:614723
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Interstitial Pneumonitis, Desquamative, Familial
Recurrent upper respiratory tract infections, Respiratory distress, Type II pneumocyte hypertroph... OMIM:263000
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Aplasia/Hypoplasia of the lungs, Hypoplasia ... ORPHA:1046
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Respiratory distress, Pulmonary edema, Tachypnea, Dyspnea OMIM:267450
Wolfram Syndrome 1
Hydronephrosis, Neurogenic bladder, Hydroureter, Tremor OMIM:222300
Bronchopulmonary Dysplasia
Atelectasis, Respiratory distress, Emphysema, Central apnea, Dyspnea, Abnormal lung morphology, P... ORPHA:70589
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ... ORPHA:2973
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... OMIM:191800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Ground-gl... ORPHA:79126
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep... OMIM:613496
Noonan Syndrome 9
Hydroureter OMIM:616559
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Hypouricemia, Renal, 1
Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper... OMIM:220150
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Atelectasis, Respiratory distress, Ground-glass opacification, Cystic pattern on pulmonary HRCT, ... OMIM:610978
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux, Choreoathetosis ORPHA:85285
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Ureteral agenesis, Neonatal death, Renal cyst, Stillbirth, Renal dysplasia, Pul... OMIM:236500
Malaria
Respiratory distress, Acute kidney injury ORPHA:673
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis, Death in infancy, Hypoperistalsis ORPHA:2241
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Ground-g... ORPHA:2302
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... ORPHA:223
Immunodeficiency 95
Recurrent viral pneumonia, Respiratory distress, Ground-glass opacification, Recurrent viral uppe... OMIM:619773
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, 3-Methylglutaconic aciduria, Pulmonary hypoplasia OMIM:615228
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Dyspnea, Bronchi... ORPHA:922
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Severe Acute Respiratory Syndrome
Respiratory distress, Acute kidney injury, Dyspnea, Acute infectious pneumonia ORPHA:140896
Mandibulofacial Dysostosis With Alopecia
Hydroureter OMIM:616367
Fanconi Anemia, Complementation Group O
Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydronephrosis, Renal cyst, Mis... OMIM:613390
Muscular Hypertonia, Lethal
Respiratory distress, Pneumonia, Death in infancy OMIM:254120
Cloacal Exstrophy
Hydroureter, Ureterocele, Horseshoe kidney, Vesicoureteral reflux, Ureteropelvic junction obstruc... ORPHA:93929
Czeizel-Losonci Syndrome
Abnormality of the urinary system, Ureteral agenesis, Hydronephrosis, Congenital megaureter, Pulm... ORPHA:2437
Codas Syndrome
Hydroureter ORPHA:1458
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Recurrent upper respiratory tract infections, Atelectasis, Respiratory distr... ORPHA:60032
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Nephrocalcinosis, Hydroureter, Ureteral stenosis, Renal cyst, Hypercalciuria OMIM:615398
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia ORPHA:141152
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Abnormal renal corticomedullary differentiation, Renal dysplasia, Pulmonary... OMIM:616733
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti... OMIM:616726
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Severe Generalized Junctional Epidermolysis Bullosa
Pneumonia, Duplicated collecting system, Multicystic kidney dysplasia, Hydroureter, Ureterocele, ... ORPHA:79404
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Dystonia, Increased level of methylsuccinic acid in urine, Ethylmalonic aci... ORPHA:26792
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Meconium Aspiration Syndrome
Atelectasis, Transient pulmonary infiltrates, Respiratory distress, Aspiration pneumonia, Pneumot... ORPHA:70588
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia ORPHA:1756
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, B... ORPHA:49
Familial Visceral Myopathy
Vesicoureteral reflux, Hydroureter, Megacystis ORPHA:2604
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis OMIM:602200
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Recurrent bronchitis, Atelectasis OMIM:300455
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Mesangial hypercellularity, Tac... OMIM:616414
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Bronchiectasis, Atelectasis OMIM:615294
Diaphanospondylodysostosis
Respiratory distress, Multiple renal cysts ORPHA:66637
Microphthalmia, Lenz Type
Hydronephrosis, Hypospadias, Hydroureter, Renal hypoplasia/aplasia ORPHA:568
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,... ORPHA:2842
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Tachypnea, Nasal flaring ORPHA:70587
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Hypospadias OMIM:300934
Mckusick-Kaufman Syndrome
Hydroureter, Vesicovaginal fistula, Hydronephrosis, Polycystic kidney dysplasia, Pulmonary hypopl... OMIM:236700
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Nephronophthisis-Like Nephropathy 2
Stage 5 chronic kidney disease, Renal insufficiency, Pulmonary infiltrates, Polyuria, Tubular lum... OMIM:619468
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Renal insufficiency, Renal tubular dysfunction, Dystonia, Choreoathetosis ORPHA:289916
Lymphangioleiomyomatosis
Chylothorax, Atelectasis, Abnormal urinary color, Emphysema, Pulmonary lymphangiomyomatosis, Rena... ORPHA:538
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d... ORPHA:3027
Idiopathic Chronic Eosinophilic Pneumonia
Atelectasis, Parenchymal consolidation, Pleural effusion, Abnormal pulmonary thoracic imaging fin... ORPHA:2902
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Abnormal p... ORPHA:2357
Diabetic Embryopathy
Abnormality of the pulmonary artery, Renal hypoplasia/aplasia, Hydronephrosis, Micropenis, Ureter... ORPHA:1926
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Exertional dyspnea, Atelectasis, Pulmonary fibrosis ORPHA:254361
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Bronchiectasis, Atelectasis OMIM:615872
Amyloidosis, Finnish Type
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom... OMIM:105120
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Peripheral pulmonary artery stenosis, Hypoplasia of the bladder, Hydroureter, Crossed fused renal... OMIM:300707
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Proximal tubulopathy, Aminoaciduria OMIM:612075
Trisomy 1Q
Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis ORPHA:261344
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Organic aciduria OMIM:614741
Ellis Van Creveld Syndrome
Hydroureter, Emphysema, Abnormality of the ureter, Renal hypoplasia/aplasia, Aplasia/Hypoplasia o... ORPHA:289
Raine Syndrome
Hydroureter, Death in infancy, Neonatal death, Hydronephrosis, Pulmonary hypoplasia OMIM:259775
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Abnormal lung lobation, Distal urethral duplication, Neonatal deat... OMIM:146510
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency OMIM:615996
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis, Apnea OMIM:619797
Carpenter Syndrome 1
Hydronephrosis, Hydroureter OMIM:201000
Silver-Russell Syndrome 1
Abnormality of the ureter, Nephroblastoma, Urethral valve, Hypospadias, Congenital posterior uret... OMIM:180860
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Chand Syndrome
Hydroureter, Atelectasis ORPHA:1401
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Tremor OMIM:619099
Congenital Myopathy 19
Hydronephrosis, Renal atrophy OMIM:618578
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Gaucher Disease Type 2
Respiratory distress, Dystonia, Recurrent respiratory infections, Abnormal pattern of respiration ORPHA:77260
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Exertional dyspnea, Recurrent respirator... ORPHA:3348
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Micropenis, Death in childhood OMIM:615597
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Recurrent res... ORPHA:30
Tetraploidy
Hydronephrosis, Aplasia/Hypoplasia of the lungs, Renal hypoplasia/aplasia ORPHA:3305
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Dystonia, Renal insufficiency, Choreoathetosis ORPHA:79312
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter ORPHA:2995
Avian Influenza
Pneumonia, Acute kidney injury, Respiratory distress, Ground-glass opacification, Pleural effusio... ORPHA:454836
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Vici Syndrome
Recurrent respiratory infections, Renal tubular acidosis, Death in infancy, Ureteral atresia ORPHA:1493
C1Q Deficiency 2
Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis OMIM:620321
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth OMIM:619751
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Renal hypoplasia, Bilateral renal agenesis, Hyperechogenic kidneys OMIM:617914
Mercury Poisoning
Acute kidney injury, Respiratory distress, Interstitial pneumonitis, Tremor, Dyspnea, Dystonia ORPHA:330021
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph... ORPHA:1834
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... ORPHA:79403
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Recurrent aspiration pneumonia, Peripheral pulmonary artery stenosis, Abnormal renal collecting s... ORPHA:280633
Fraser Syndrome 3
Hypoplasia of the bladder, Bilateral renal agenesis, Abnormal lung lobation, Ureteral agenesis, S... OMIM:617667
Bladder Exstrophy
Recurrent urinary tract infections, Abnormality of the ureter, Vesicoureteral reflux, Hypoplasia ... ORPHA:93930
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Pleural effusion, Dyspnea, Abnormal lung morpho... ORPHA:50251
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Respiratory distr... OMIM:231680
Surfactant Metabolism Dysfunction, Pulmonary, 2
Intralobular septal thickening, Spontaneous pneumothorax, Recurrent pneumonia, Intraalveolar phos... OMIM:610913
Hereditary Xanthinuria
Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina... ORPHA:3467
Odontochondrodysplasia 1
Nephronophthisis, Respiratory distress, Death in infancy, Recurrent respiratory infections, Polyc... OMIM:184260
Distal Duplication 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system, Abnormal lung lobation ORPHA:1745
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Micropenis, Pelvic kid... OMIM:258040
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the renal pelvis, Hydroureter, Pulmonary artery dilatation, Abnormal lung lobation,... 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
Renal hypoplasia, Ureteral hypoplasia, Bilateral renal agenesis OMIM:616258
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Hypoplasia of penis ORPHA:3409
Cutis Laxa, Autosomal Recessive, Type Ic
Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent pneumonia, Atelecta... OMIM:613177
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux OMIM:619217
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydroureter, Renal agenesis, Ureterocele, Megacystis, Vesicoureteral reflux, Hydronephrosis, Blad... OMIM:604292
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Xanthinuria, Type I
Hydronephrosis, Pyelonephritis, Xanthine nephrolithiasis, Xanthinuria OMIM:278300
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:254210
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Hydronephrosis, Urethral atresia, Enlarged kidney, Pulmonary hypoplasia OMIM:314390
Stankiewicz-Isidor Syndrome
Micropenis, Ureteral duplication, Hypospadias OMIM:617516
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Vesicoureteral reflux, Tremor, Hydronephrosis, Bladder trabeculation, Ureteral duplication, Urete... OMIM:614080
Netherton Syndrome
Aminoaciduria, Emphysema, Hydronephrosis, Recurrent respiratory infections, Ectopic kidney ORPHA:634
Alfadhel Syndrome
Horseshoe kidney, Nasal flaring OMIM:620655
Lujo Hemorrhagic Fever
Oliguria, Resting tremor, Atelectasis, Respiratory distress, Renal insufficiency, Microscopic hem... ORPHA:319213
Trisomy 13
Abnormal lung lobation, Abnormality of the ureter, Displacement of the urethral meatus, Hydroneph... ORPHA:3378
Stt3B-Cdg
Respiratory distress, Micropenis ORPHA:370924
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... ORPHA:90324
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Abnormal pulmonary interstitial morphology, Atelectasis, Ground-glass opacification, Pleural effu... OMIM:620233
White-Kernohan Syndrome
Horseshoe kidney, Hydronephrosis, Hydroureter OMIM:619426
17Q12 Microdeletion Syndrome
Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Cardiac Valvular Dysplasia 1
Hydronephrosis, Pulmonary artery atresia, Hydroureter, Urethral diverticulum OMIM:212093
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic a... OMIM:605809
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Renal agenesis, Ureterocele, Vesicoureteral reflux, Hydronephrosis, Bladder divertic... OMIM:129900
Perching Syndrome
Respiratory distress OMIM:617055
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress ORPHA:238329
Chronic Pneumonitis Of Infancy
Intercostal retractions, Respiratory distress, Ground-glass opacification, Tachypnea, Diffuse ret... ORPHA:91359
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Death in infancy, Ectopic kidney, Cystic renal dysplasia, Neonatal death OMIM:613730
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea ORPHA:1832
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter OMIM:610759
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Apnea, Renal insufficiency, Death in infancy, Hydronephrosis, Long-chain dicarboxylic aciduria, U... OMIM:608836
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Ureteral stenosis, Hydronephrosis, Opisthotonus, Micropenis, Hypospadias OMIM:269150
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections OMIM:619218
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:1770
Staphylococcal Necrotizing Pneumonia
Pneumonia, Respiratory distress, Pleural effusion, Parenchymal consolidation, Pulmonary infiltrat... ORPHA:36238
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Lung adenocarcinoma, Protei... OMIM:618913
Radio-Renal Syndrome
Multicystic kidney dysplasia, Chylothorax, Renal agenesis, Respiratory distress, Pleural effusion... ORPHA:3015
Isolated Atp Synthase Deficiency
Respiratory distress, Dystonia, Renal hypoplasia, 3-Methylglutaconic aciduria ORPHA:254913
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Abnormal lung lobation, Renal cyst, Hypercal... ORPHA:369837
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Ureteral duplication, Duplication of renal pelvis, Hand tremor ORPHA:457212
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Abnormal lung morphology, Urinary bladder inflammati... ORPHA:449395
Dextrocardia
Abnormal lung lobation, Abnormality of the ureter, Abnormality of the pulmonary artery, Abnormal ... ORPHA:1666
Peutz-Jeghers Syndrome
Neoplasm of the lung, Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma ORPHA:2869
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Tetanus
Elevated urinary norepinephrine level, Respiratory distress, Tremor, Opisthotonus, Tachypnea, Ele... ORPHA:3299
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Dystonia, Tremor ORPHA:240085
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Pleural effusion, Pneumothorax, Dyspnea, Bronchiectasis, Pulmonary opacity ORPHA:411703
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Renal duplication OMIM:270420
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Renal-Hepatic-Pancreatic Dysplasia 1
Pulmonary hypoplasia, Stage 5 chronic kidney disease, Renal insufficiency, Ureteral atresia, Neon... OMIM:208540
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Nephroblastoma, Death in infancy, Hydronephrosis, Uret... ORPHA:373
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Ureteral stenosis, Apnea, Tachypnea, Pneumothorax, Recurren... ORPHA:2257
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Unilateral renal agenesis, Hydroureter, Bilateral 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
Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Pyelonephritis, Vesic... OMIM:301068
Acute Lung Injury
Pneumonia, Diffuse alveolar hemorrhage, Respiratory distress, Pulmonary infiltrates, Tachypnea, D... ORPHA:178320
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Craniofacial dystonia, Recurrent acute respiratory tract infection, Paradox... OMIM:620011
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Respiratory distress, Tremor, Proteinuria, Microscopic hematuria, Hemo... OMIM:274150
Interstitial Lung Disease 1
Usual interstitial pneumonia, Intralobular septal thickening, Interlobular septal thickening, Gro... 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
Renal hypoplasia, Atelectasis, Neonatal death, Cystic renal dysplasia, Pulmonary hypoplasia OMIM:269860
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Glycosuria, Respiratory distress, Hyperphosphaturia, Renal tubular dysfunction, De... OMIM:220110
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Emphysema, Respiratory tract infection, Chronic bronchitis, Diffuse r... ORPHA:79127
Noonan Syndrome 4
Hydronephrosis, Ureteral duplication OMIM:610733
Microphthalmia, Syndromic 9
Renal hypoplasia, Agenesis of pulmonary vessels, Horseshoe kidney, Alveolar capillary dysplasia, ... OMIM:601186
Birt-Hogg-Dubé Syndrome
Emphysema, Pneumothorax, Pulmonary sequestration, Renal cell carcinoma ORPHA:122
Primary Ciliary Dyskinesia
Atelectasis, Pulmonary situs ambiguus, Respiratory tract infection, Peribronchovascular interstit... 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
Vesicoureteral reflux, Renal duplication, Hydronephrosis, Ureteral duplication, Hypospadias ORPHA:96169
Relapsing Polychondritis
Abnormal pattern of respiration, Atelectasis, Renal insufficiency, Hematuria, Proteinuria, Glomer... ORPHA:728
Diaphanospondylodysostosis
Nephroblastomatosis, Respiratory distress, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, C... OMIM:608022
Pfeiffer Syndrome Type 3
Respiratory distress, Hydronephrosis, Vesicoureteral reflux, Horseshoe kidney ORPHA:93260
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2636
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Tetrasomy 15Q26
Horseshoe kidney, Hydronephrosis OMIM:614846
Joubert Syndrome 37
Hydronephrosis, Micropenis OMIM:619185
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Recurrent pneumonia, Respiratory distress, Death i... OMIM:617303
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Organic aciduria ORPHA:79242
Suleiman-El-Hattab Syndrome
Hydronephrosis, Recurrent respiratory infections OMIM:618950
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Surfactant Metabolism Dysfunction, Pulmonary, 1
Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar phospholipid accumulation, Int... OMIM:265120
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Pleural effusion, Hydronephrosis, Micropenis, Hypospadias, Pulmonary hypoplasia OMIM:616897
Farber Disease
Recurrent upper respiratory tract infections, Atelectasis, Respiratory distress, Nodular pattern ... ORPHA:333
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki... OMIM:617641
Congenital Myopathy 10A, Severe Variant
Respiratory distress OMIM:614399
Kleefstra Syndrome
Recurrent respiratory infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Ren... ORPHA:261494
Phosphoribosylpyrophosphate Synthetase Superactivity
Urolithiasis, Renal insufficiency, Death in childhood, Hyperuricosuria, Uric acid nephrolithiasis... OMIM:300661
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Focal dystonia, Tremor ORPHA:240103
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress OMIM:300580
Nipah Virus Disease
Respiratory distress, Tremor, Recurrent pharyngitis ORPHA:99825
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ureter, Hypospadias, Anomalous pulmonary venous return ORPHA:2311
Brain-Lung-Thyroid Syndrome
Recurrent pneumonia, Megacystis, Respiratory distress, Vesicoureteral reflux, Intention tremor, D... ORPHA:209905
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ... ORPHA:314588
46,Xy Sex Reversal 4
Hydronephrosis, Ureteropelvic junction obstruction, Renal dysplasia 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, Urethral stenosis, Displacement of the urethral meatus ORPHA:1727
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atelectasis, Respiratory distress, Torticollis, Renal neoplasm, Repeated pneumothoraces, Pulmonar... ORPHA:536467
Congenital Tracheal Stenosis
Abnormal lung lobation, Respiratory distress, Abnormality of the ureter, Anomalous origin of left... ORPHA:141127
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia OMIM:618494
Melnick-Needles Syndrome
Hydronephrosis, Recurrent respiratory infections, Vesicoureteral reflux ORPHA:2484
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydronephrosis, Ureteral triplication OMIM:104350
Fanconi Anemia
Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Renal insuffi... ORPHA:84
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Vesicoureteral reflux, Hydronephrosis, Micropenis, Duplicated collecting system, Pulmonary artery... OMIM:301056
Cryptogenic Organizing Pneumonia
Respiratory distress, Ground-glass opacification, Parenchymal consolidation, Pneumothorax, Dyspnea ORPHA:1302
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic... ORPHA:887
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Respiratory distress, Homocystinuria, Methylmalonic aciduria OMIM:250940
Webb-Dattani Syndrome
Hydronephrosis, Neurogenic bladder, Vesicoureteral reflux, Hyposthenuria OMIM:615926
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crazy paving pattern, Tachypnea, Acute infectious pneumonia ORPHA:264675
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Opisthotonus, Hypospadias OMIM:619272
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of... OMIM:617666
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Hypospadias OMIM:220210
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
Tularemia
Pneumonia, Respiratory distress, Pleural effusion, Pulmonary infiltrates, Abnormal pulmonary thor... ORPHA:3392
Congenital Myopathy 17
Renal hypoplasia, Ureteropelvic junction obstruction, Respiratory tract infection, Hydronephrosis... OMIM:618975
Zygomycosis
Nephritis, Atelectasis, Renal insufficiency, Pleural effusion, Parenchymal consolidation, Pulmona... ORPHA:73263
Scalp-Ear-Nipple Syndrome
Duplication of renal pelvis, Recurrent urinary tract infections, Pyelonephritis, Abnormality of t... ORPHA:2036
Folinic Acid-Responsive Seizures
Respiratory distress, Dystonia, Apnea ORPHA:79097
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Unilateral renal hypoplasia, Renal insufficiency, Ureteropelvic junction obs... ORPHA:49041
Glycogen Storage Disease Due To Acid Maltase Deficiency
Oligosacchariduria, Atelectasis, Respiratory distress, Respiratory tract infection, Exertional dy... ORPHA:365
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Pneumonia ORPHA:596
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Apnea, Pulmonary hypoplasia ORPHA:85201
Alagille Syndrome
Peripheral pulmonary artery stenosis, Abnormality of the ureter, Nephrotic syndrome, Renal hypopl... ORPHA:52
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Trisomy 17P
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis ORPHA:261290
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
Intellectual Developmental Disorder, Autosomal Dominant 73
Hydroureter OMIM:620450
Smith-Magenis Syndrome
Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:819
Fructose-1,6-Bisphosphatase Deficiency
Increased urinary glycerol, Respiratory distress, Episodic tachypnea, Intermittent hyperventilati... ORPHA:348
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy OMIM:615042
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Recurrent pneumonia ORPHA:254875
Baller-Gerold Syndrome
Hydronephrosis, Abnormality of the ureter, Abnormal localization of kidney, Vesicoureteral reflux ORPHA:1225
Peroxisome Biogenesis Disorder 4B
Ureterocele OMIM:614863
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Al-Gazali Syndrome
Hydronephrosis, Recurrent pneumonia OMIM:609465
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Methylmalonic aciduria, Stage 5 chronic kidney disease, Tubulointerstitial ... OMIM:251000
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Erdheim-Chester Disease
Pleural effusion, Renal insufficiency, Hydronephrosis, Dyspnea, Abnormal pulmonary interstitial m... ORPHA:35687
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... ORPHA:261318
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Oculocerebrorenal Syndrome Of Lowe
Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Atelectasis, Renal insufficiency, Death in i... ORPHA:534
Laryngomalacia
Respiratory distress OMIM:150280
Ciliary Dyskinesia, Primary, 1
Pneumonia, Bronchiectasis, Recurrent bronchitis, Atelectasis OMIM:244400
Tarp Syndrome
Horseshoe kidney, Athetosis, Hydronephrosis, Neonatal death OMIM:311900
Idiopathic Bronchiectasis
Emphysema, Respiratory tract infection, Acute infectious pneumonia, Dyspnea, Recurrent lower resp... ORPHA:60033
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter, Recurrent respiratory infections ORPHA:3253
3C Syndrome
Recurrent respiratory infections, Death in infancy, Hydronephrosis, Hypoplasia of penis, Hypospadias ORPHA:7
Alport Syndrome
Thickened glomerular basement membrane, Focal segmental glomerulosclerosis, Glomerular basement m... ORPHA:63
Carnitine Deficiency, Systemic Primary
Respiratory distress, Dicarboxylic aciduria OMIM:212140
Oromandibular Dystonia
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Respiratory distress, Limb dystonia, Lin... ORPHA:93958
Leiomyomatosis, Diffuse, With Alport Syndrome
Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St... OMIM:308940
3-Methylglutaconic Aciduria, Type Viib
Recurrent pneumonia, Respiratory distress, 3-Methylglutaconic aciduria, Tremor, Opisthotonus, Dys... OMIM:616271
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Ureteral duplication OMIM:618460
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ... ORPHA:322
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis, Recurrent pneumonia OMIM:619179
Johanson-Blizzard Syndrome
Hydronephrosis, Hypoplasia of penis, Hypospadias, Death in infancy ORPHA:2315
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Abnormality of the ureter, Abnormality of the bladder, Hypospadias, Ep... ORPHA:3339
Diphallia
Penoscrotal transposition, Bladder exstrophy, Horseshoe kidney, Distal urethral duplication, Rena... ORPHA:227
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract, Abnormality of the kidney, 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
Micropenis, Hydronephrosis ORPHA:364028
Zaki Syndrome
Hydronephrosis, Renal agenesis OMIM:619648
Primary Dystonia, Dyt4 Type
Upper limb postural tremor, Blepharospasm, Generalized dystonia, Laryngeal dystonia, Respiratory ... ORPHA:98805
Moebius Syndrome
Respiratory distress, Micropenis OMIM:157900
Sarcoidosis, Susceptibility To, 2
Emphysema, Pleural effusion, Pulmonary infiltrates, Pneumothorax, Dyspnea, Abnormal pulmonary int... OMIM:612387
Zellweger Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias, Death in infancy ORPHA:912
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Glandular hypospadias, Pneumothorax, Pulmonary hypoplasia OMIM:620306
Cocaine Intoxication
Acute kidney injury, Diffuse alveolar hemorrhage, Respiratory distress, Tremor, Pulmonary infiltr... ORPHA:90068
Coffin-Siris Syndrome 1
Renal hypoplasia, Hydroureter, Hydronephrosis, Ectopic kidney, Recurrent respiratory infections, ... 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
Hydronephrosis, Dystonia, Ureteropelvic junction obstruction, Tremor OMIM:617557
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Death in childhood, Dystonia, Tachypnea, Recurrent respiratory infections, Pulmonary... OMIM:618278
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hydronephrosis, Micropenis, Death in infancy, Pulmonary lymphangiectasia OMIM:235255
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Peripheral pulmonary artery stenosis, Pelvic kidney OMIM:613001
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Polycystic... ORPHA:2237
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Hypoplasia of penis ORPHA:990
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Horseshoe kidney, Vesicoureteral reflux, Pleural effusion, Hydronephrosis, Pulmonary lymphangiect... OMIM:235510
ERI1-related disease
Hydronephrosis, Vesicoureteral reflux OMIM:608739
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Neonatal death... OMIM:263200
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Respiratory distress, Elevated urine 3-hydroxypropionic acid l... OMIM:251100
Cat Eye Syndrome
Total anomalous pulmonary venous return, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux,... OMIM:115470
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Granulomatosis With Polyangiitis
Ureteral stenosis, Recurrent intrapulmonary hemorrhage, Renal insufficiency, Pulmonary infiltrate... ORPHA:900
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Urinary incontinence, Central apnea, Neonatal death OMIM:616482
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Hydronephrosis, Renal dysplasia OMIM:300968
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Hydronephrosis, Abnormal... ORPHA:391641
Chromosome 2P16.1-P15 Deletion Syndrome
Hydronephrosis, Recurrent upper respiratory tract infections, Micropenis OMIM:612513
Fryns Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Hypospadias, Pulmonary hypop... ORPHA:2059
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis ORPHA:1297
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis, Abnormal lung morphology ORPHA:35173
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Reduced renal corticomedullary differentiation, Multiple renal cysts OMIM:618733
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Beckwith-Wiedemann Syndrome
Nephropathy, Vesicoureteral reflux, Nephroblastoma, Nephrolithiasis, Hypercalciuria, Multiple ren... ORPHA:116
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress ORPHA:254864
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Recurrent pneumonia, Hypospadias OMIM:616449
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Visceral Myopathy 1
Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis OMIM:155310
Congenital Disorder Of Glycosylation, Type Ig
Recurrent pneumonia, Recurrent upper respiratory tract infections, Respiratory distress, Micropen... OMIM:607143
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Limb dystonia, Death in infancy, Irregular respiration OMIM:604377
Chitayat Syndrome
Respiratory distress, Abnormal pulmonary interstitial morphology, Recurrent respiratory infections OMIM:617180
Micro Syndrome
Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis ORPHA:2510
Diamond-Blackfan Anemia 10
Respiratory distress, Ectopic kidney, Renal duplication OMIM:613309
Hoxha-Aliu Syndrome
Hydronephrosis, Vesicoureteral reflux OMIM:620662
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea ORPHA:86812
Duane-Radial Ray Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r... OMIM:607323
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Fetal pyelectasis ORPHA:50810
Heterotaxy, Visceral, 5, Autosomal
Renal hypoplasia, Total anomalous pulmonary venous return, Pulmonary artery atresia, Ureteral ste... OMIM:270100
Fryns Syndrome
Chylothorax, Renal agenesis, Hydronephrosis, Renal cyst, Stillbirth, Ureteral duplication, Hyposp... OMIM:229850
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Pleural effusion ORPHA:2414
Congenital Diaphragmatic Hernia
Respiratory distress, Pulmonary hypoplasia ORPHA:2140
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Death in childhood, Nephrolithiasis OMIM:613848
Goodpasture Syndrome
Reticular pattern on pulmonary HRCT, Glomerular crescent formation, Erythrocyte cylindruria, Grou... OMIM:233450
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Tremor OMIM:608799
Congenital Disorder Of Glycosylation, Type Iig
Hydronephrosis, Hypospadias, Renal insufficiency, Hemolytic-uremic syndrome OMIM:611209
Alg9-Cdg
Hypoplasia of the bladder, Abnormal lung lobation, Abnormal renal artery morphology, Hydronephros... ORPHA:79328
Slc35A1-Cdg
Respiratory distress, Pulmonary hemorrhage, Pneumonia ORPHA:238459
Teebi-Shaltout Syndrome
Horseshoe kidney, Hydronephrosis, Ureteral stenosis OMIM:272950
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hydronephrosis, Recurre... OMIM:617913
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Exaggerated startle response OMIM:618201
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Dyspnea ORPHA:2759
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress ORPHA:1143
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Hydronephrosis ORPHA:210122
15Q Overgrowth Syndrome
Ureterovesical stenosis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormal renal morphology ORPHA:314585
22Q11.2 Deletion Syndrome
Renal hypoplasia, Atelectasis, Abnormal lung lobation, Vesicoureteral reflux, Multiple renal cyst... ORPHA:567
Peutz-Jeghers Syndrome
Abnormality of the ureter, Bladder polyp OMIM:175200
Congenital Disorder Of Glycosylation, Type Iiaa
Hydronephrosis, Unilateral renal agenesis OMIM:620454
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Tachypnea, Death in infancy OMIM:614299
Mosaic Trisomy 9
Abnormal lung lobation, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Hypoplasia of pen... ORPHA:99776
Toxic Epidermal Necrolysis
Abnormality of the urethra, Respiratory distress, Abnormal pleura morphology, Renal insufficiency... ORPHA:537
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Recurrent lower respiratory tract infections, Atelectasis, Hypoventilation ORPHA:258
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Bronchitis, Interlobular septal thickening, Ground-glass opacification, ... ORPHA:60025
Musculocontractural Ehlers-Danlos Syndrome
Functional abnormality of the bladder, Horseshoe kidney, Nephrolithiasis, Hydronephrosis, Pneumot... ORPHA:2953
Early Infantile Epileptic Encephalopathy
Ureterocele, Renal dysplasia, Tremor, Micropenis, Dystonia, Choreoathetosis ORPHA:1934
Otopalatodigital Syndrome Type 2
Hydronephrosis, Ureteral obstruction, Hypospadias, Pulmonary hypoplasia ORPHA:90652
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Neoplasm of the lung ORPHA:142
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture... ORPHA:2473
Bacterial Toxic-Shock Syndrome
Pneumonia, Recurrent urinary tract infections, Respiratory distress, Renal insufficiency, Respira... ORPHA:36234
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Death in childhood, Hydronephrosis, Albuminuria, Hypospadias, Renal cortical micro... OMIM:214100
Stromme Syndrome
Hydronephrosis, Bilateral renal hypoplasia, Stillbirth OMIM:243605
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hydronephrosis ORPHA:541423
Alpha-1-Antitrypsin Deficiency
Emphysema, Nephrotic syndrome, Bronchiectasis, Bronchitis ORPHA:60
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Pneumonia, Acute kidney injury, Oliguria, Anuria, Respiratory distress, D... ORPHA:340
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Micropenis ORPHA:2519
Ethylene Glycol Poisoning
Abnormal pattern of respiration, Renal insufficiency, Renal tubular dysfunction, Episodic respira... ORPHA:31826
Mosaic Trisomy 8
Hydronephrosis, Vesicoureteral reflux ORPHA:96061
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hydronephrosis, Abnormal renal morphology, Micropenis, Pulmonary lymphangiectasia ORPHA:1655
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Focal segmental glomerulosclerosis, Abnormal pulmonary interstitial morphology, Respiratory distr... OMIM:614748
Melnick-Needles Syndrome
Hydronephrosis, Recurrent respiratory infections, Ureteral stenosis, Stillbirth OMIM:309350
Congenital Disorder Of Glycosylation, Type It
Dyspnea, Hydronephrosis OMIM:614921
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Nocturnal hypoventilation, Death in childhood, Dyspnea, Recurrent respirato... OMIM:211530
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal renal collecting system morphology, Methylmalonic aciduria, Respiratory distress, Apnea,... ORPHA:17
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Hydronephrosis, Vesicoureteral reflux OMIM:620663
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hydronephrosis ORPHA:1358
Acrorenal-Mandibular Syndrome
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia, P... OMIM:200980
Whim Syndrome
Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir... ORPHA:51636
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Pulmonary artery atresia, Dystonia, Atelectasis, Pulmonary hypoplasia OMIM:620371
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Bronchiectasis OMIM:606763
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Congenital Disorder Of Glycosylation, Type Iie
Hydronephrosis, Neurogenic bladder, Death in infancy OMIM:608779
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Recurrent respiratory infections ORPHA:261349
Castleman Disease
Dyspnea, Hematuria, Renal insufficiency, Ureteral obstruction ORPHA:160
Episodic Ataxia Type 1
Respiratory distress, Choreoathetosis ORPHA:37612
Intellectual Developmental Disorder, Autosomal Dominant 53
Hydronephrosis, Micropenis OMIM:617798
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Death in infancy, Hydronephrosis, Abnormality of the kidney, ... ORPHA:847
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress OMIM:620375
Takenouchi-Kosaki Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias OMIM:616737
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Pleural effusion, Pulmonary edema, Enlarged kidney OMIM:261740
Pauci-Immune Glomerulonephritis
Acute kidney injury, Crescentic glomerulonephritis, Decreased glomerular filtration rate, Pulmona... ORPHA:93126
1Q21.1 Microdeletion Syndrome
Hydronephrosis, Vesicoureteral reflux ORPHA:250989
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Nephronophthisis, Stage 5 chronic kidney disease, Reduced renal corticomedul... OMIM:266920
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Urethral atresia, Pulmonary hypoplasia OMIM:271520
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Tarp Syndrome
Horseshoe kidney, Apnea, Hydronephrosis, Pulmonary hypoplasia ORPHA:2886
Digeorge Syndrome
Unilateral renal agenesis, Recurrent pneumonia, Atelectasis, Renal insufficiency, Recurrent sinus... OMIM:188400
Shwachman-Diamond Syndrome 1
Respiratory distress, Nephrocalcinosis OMIM:260400
Koolen-De Vries Syndrome
Hydronephrosis, Vesicoureteral reflux, Recurrent urinary tract infections OMIM:610443
Knobloch Syndrome
Bifid ureter, Vesicoureteral reflux ORPHA:1571
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal bladder morphology, Hydronephrosis, Vesicoureteral reflux, Pleural effusion ORPHA:453499
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Ketonuria, Methylmalonic aciduria OMIM:251110
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Unilateral renal agenesis, Enlarged kidney OMIM:618188
Kabuki Syndrome
Abnormal localization of kidney, Crossed fused renal ectopia, Ureteropelvic junction obstruction,... ORPHA:2322
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Recurrent pneumonia, Aspiration pneumonia, Respiratory distress, Apnea, Hypoventilation ORPHA:314655
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst OMIM:618454
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Horseshoe kidney, Renal hypoplasia/aplasia, Hydronephrosis, Abnorma... ORPHA:2092
Thauvin-Robinet-Faivre Syndrome
Renal dysplasia, Bifid ureter, Nephroblastoma, Renal cyst, Renal malrotation OMIM:617107
Biotinidase Deficiency
Respiratory distress, Hyperventilation, Apnea, Organic aciduria ORPHA:79241
Cerebellar-Facial-Dental Syndrome
Hydronephrosis, Ureteropelvic junction obstruction ORPHA:444072
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Unilateral renal agenesis, Stillbirth, Pulmonary hypoplasia OMIM:308050
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
8P Inverted Duplication/Deletion Syndrome
Hydronephrosis, Abnormality of the urinary system, Micropenis ORPHA:96092
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, He... ORPHA:505248
Thrombocytopenia-Absent Radius Syndrome
Dilatation of the renal pelvis, Horseshoe kidney, Vesicoureteral reflux, Death in infancy, Axial ... OMIM:274000
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Multiple glomerular cysts, Episodic respiratory distress, Abnormal renal tubule morphology... ORPHA:255210
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hydronephrosis, Micropenis, Vesicoureteral reflux, Pelvic kidney OMIM:618653
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory tract infection, Oligosacchariduria ORPHA:308552
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Tuberous Sclerosis Complex
Chronic kidney disease, Respiratory distress, Stage 5 chronic kidney disease, Renal insufficiency... ORPHA:805
Sacral Agenesis With Vertebral Anomalies
Unilateral renal agenesis, Persistent cloaca, Neonatal death OMIM:615709
Neuroblastoma
Respiratory distress, Elevated urinary homovanillic acid, Elevated urinary vanillylmandelic acid,... ORPHA:635
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Recurrent pneumonia, Hypospadias, Male urethral meatus stenosis ORPHA:464738
Intellectual Developmental Disorder, Autosomal Dominant 42
Limb dystonia, Ureteropelvic junction obstruction, Hydronephrosis, Neurogenic bladder, Dystonia OMIM:616973
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Pneumonia, Respiratory distress, Interstitial pneumonitis, Membranous nephropathy, Tubulointersti... 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, Neonatal death, Opisthotonus, Pulmonary hypoplasia OMIM:608013
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Colchicine Poisoning
Respiratory distress, Oliguria, Renal insufficiency ORPHA:31824
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections OMIM:619383
Schinzel-Giedion Syndrome
Recurrent pneumonia, Respiratory distress, Abnormality of the ureter, Nephroblastoma, Nephrolithi... ORPHA:798
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hydronephrosis, Micropenis, Hypospadias, Renal agenesis OMIM:301040
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Pulmonary hypoplasia OMIM:617895
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Hypospadias OMIM:217980
Vater/Vacterl Association
Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstruction, Hydronephrosis, Ectopi... OMIM:192350
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Q Fever
Pneumonia, Respiratory distress, Pleural effusion, Hematuria, Abnormal pulmonary interstitial mor... ORPHA:781
Schwartz-Jampel Syndrome
Blepharospasm, Abnormality of the urinary system, Abnormality of the ureter, Apnea, Death in infa... ORPHA:800
Thyroid Lymphoma
Respiratory distress, Dyspnea ORPHA:97285
Coccidioidomycosis
Pneumonia, Respiratory distress, Exudative pleural effusion, Renal insufficiency, Parenchymal con... ORPHA:228123
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia OMIM:202650
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Granulomatous Disease, Chronic, X-Linked
Recurrent pneumonia, Air bronchogram, Pleural effusion, Atelectasis OMIM:306400
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress ORPHA:100057
Acquired Methemoglobinemia
Respiratory distress, Dyspnea ORPHA:464453
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Atelectasis, Recurrent sinusitis, Pulmonary artery stenosis, Recurrent respi... OMIM:615067
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Trisomy 8P
Nephrocalcinosis, Recurrent upper respiratory tract infections, Peripheral pulmonary artery steno... 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, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney ORPHA:464311
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Poland Syndrome
Renal hypoplasia, Ureterocele, Vesicoureteral reflux, Renal hypoplasia/aplasia, Duplicated collec... ORPHA:2911
Opitz Gbbb Syndrome
Abnormality of the urinary system, Vesicoureteral reflux, Hydronephrosis, Recurrent aspiration pn... ORPHA:2745
Au-Kline Syndrome
Chronic kidney disease, Hydronephrosis, Vesicoureteral reflux, Dilatation of the renal pelvis OMIM:616580
Occipital Horn Syndrome
Hydronephrosis, Ureteral obstruction, Bladder diverticulum OMIM:304150
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent upper respiratory tract infections, Recurrent urinary tract infections, Hydronephrosis,... OMIM:612541
Restrictive Dermopathy 1
Neonatal death, Stillbirth, Ureteral duplication, Hypospadias, Pulmonary hypoplasia OMIM:275210
Japanese Encephalitis
Pill-rolling tremor, Abnormal pattern of respiration, Respiratory distress, Tremor, Pulmonary ede... ORPHA:79139
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Ureteral duplication, Pulmonary artery stenosis ORPHA:2255
Nijmegen Breakage Syndrome
Recurrent pneumonia, Recurrent urinary tract infections, Recurrent bronchitis, Hydronephrosis, Br... OMIM:251260
Eec Syndrome
Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydronephrosis, Urethral atresia, Hypospadias ORPHA:1896
Autosomal Recessive Cutis Laxa Type 1
Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Recurrent pneumonia, Urethral... ORPHA:90349
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, 4-Hydroxyphenylpyruvic aciduria, 4-hydroxyphenylacetic aciduria, Death in i... OMIM:617156
Esophageal Atresia
Abnormality of the urinary system, Renal agenesis, Bronchitis, Respiratory distress, Episodic res... ORPHA:1199
Mogs-Cdg
Respiratory distress, Apnea, Hypoventilation, Pulmonary edema, Dystonia ORPHA:79330
Listeriosis
Pneumonia, Acute kidney injury, Respiratory distress, Pyelonephritis, Tremor, Miscarriage ORPHA:533
Knobloch Syndrome 1
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication OMIM:267750
Hypoglossia With Situs Inversus
Respiratory distress OMIM:612776
Congenital Disorder Of Deglycosylation 1
Chondroitin sulfate excretion in urine, Respiratory distress, Heparan sulfate excretion in urine,... OMIM:615273
Sepsis In Premature Infants
Dyspnea, Nasal flaring, Reversible renal failure, Oliguria ORPHA:90051
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections ORPHA:329178
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress OMIM:620166
Microphthalmia, Syndromic 1
Renal hypoplasia, Hydroureter, Renal hypoplasia/aplasia, Hypospadias, Pulmonary hypoplasia OMIM:309800
Frontometaphyseal Dysplasia
Hydronephrosis, Ureteral obstruction, Urethral stenosis ORPHA:1826
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney ORPHA:464306
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Dystonia, Exaggerated startle response ORPHA:438216
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia ORPHA:564
Smith-Lemli-Opitz Syndrome
Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Abnormal lung lobation, Ureteropelvi... OMIM:270400
Smith-Lemli-Opitz Syndrome
Abnormal localization of kidney, Multicystic kidney dysplasia, Abnormal lung lobation, Ureteropel... ORPHA:818
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Ureterocele OMIM:616734
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney ORPHA:500095
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Ureteropelvic junction obstruction, Hydronephrosis, Pulmona... OMIM:280000
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Tachypnea OMIM:237310
Triosephosphate Isomerase Deficiency
Respiratory distress, Tremor, Death in infancy, Death in adolescence, Dystonia OMIM:615512
Congenital Tracheomalacia
Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, In... ORPHA:95430
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelvic junction obstruction, Ur... OMIM:619522
Cardiofaciocutaneous Syndrome 1
Hydronephrosis OMIM:115150
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Methylmalonic aciduria, Respiratory distress, Renal insufficiency, Glomerulopathy, Hem... ORPHA:79282
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress ORPHA:226313
Osteogenesis Imperfecta, Type Vii
Hydronephrosis, Absent pulmonary artery, Death in infancy, Hypoplastic pulmonary veins OMIM:610682
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Tachypnea, Pneumonia ORPHA:26793
Distal Deletion 12Q
Vesicoureteral reflux, Hydronephrosis, Ectopic kidney, Micropenis, Polycystic kidney dysplasia ORPHA:96149
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Recurrent lower respiratory tract infections, Exertional dyspnea, Hypoventi... ORPHA:98915
Meier-Gorlin Syndrome 1
Respiratory distress, Micropenis, Emphysema, Death in infancy OMIM:224690
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea ORPHA:2707
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Recurrent respiratory infections, Death in infancy, Hydronephrosis,... ORPHA:1507
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypospadias OMIM:123790
Orofaciodigital Syndrome Type 1
Multicystic kidney dysplasia, Renal insufficiency, Tremor, Proteinuria, Hydronephrosis, Dystonia ORPHA:2750
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Aspiration pneumonia, Apnea, Vesicoureteral reflux, Hypoventilation, Nephrolithiasis, Hydronephro... ORPHA:438213
Cardiofaciocutaneous Syndrome
Hydronephrosis ORPHA:1340
Proboscis Lateralis
Ureteral agenesis, Unilateral renal agenesis, Duplication of renal pelvis ORPHA:141099
Scimitar Syndrome
Pulmonary artery hypoplasia, Bronchogenic cyst, Respiratory distress, Pneumothorax, Partial anoma... ORPHA:185
Cousin Syndrome
Hydronephrosis OMIM:260660
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hydronephrosis, Unilateral renal agenesis, Total anomalous pulmonary venous return, Hypospadias ORPHA:487796
Craniofacioskeletal Syndrome
Hydronephrosis, Hypospadias OMIM:300712
Peters Plus Syndrome
Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia, Hydronephrosis, Abnorm... ORPHA:709
Trisomy 18
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:3380
7Q11.23 Microduplication Syndrome
Hydronephrosis, Unilateral renal agenesis, Enuresis, Hypospadias ORPHA:96121
Heart Defects, Congenital, And Other Congenital Anomalies
Pulmonary artery stenosis, Ureteral duplication, Glycosuria OMIM:600001
Lymphatic Malformation 7
Respiratory distress, Pulmonary edema, Chylothorax, Pleural effusion OMIM:617300
Monosomy 22Q13.3
Hydronephrosis, Recurrent pyelonephritis, Vesicoureteral reflux, Renal dysplasia ORPHA:48652
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Chylothorax, Death in childhood, Death in infancy OMIM:620278
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Pulmonary edema, Dyspnea OMIM:115197
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Hypopnea, Respiratory distress, Apnea, Death in childhood, Death in infancy, Recurrent lower resp... OMIM:618426
Nasolacrimal Duct Cyst
Intercostal retractions, Paroxysmal dyspnea, Episodic respiratory distress ORPHA:141083
Sotos Syndrome
Small cell lung carcinoma, Renal agenesis, Renal insufficiency, Vesicoureteral reflux, Ureteropel... ORPHA:821
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidney dysplasia... OMIM:249000
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hydronephrosis, Nocturnal hypoventilation, Vesicoureteral reflux ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hydronephrosis, Nocturnal hypoventilation, Vesicoureteral reflux ORPHA:352665
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Abnormality of the kidney ORPHA:177907
Jacobsen Syndrome
Hydronephrosis, Death in infancy, Multicystic kidney dysplasia, Recurrent respiratory infections ORPHA:2308
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Renal agenesis, Respiratory distress, Horseshoe kidney, ... OMIM:306955
Gabriele-De Vries Syndrome
Hydronephrosis, Dystonia, Ureteropelvic junction obstruction, Tremor ORPHA:506358
Arboleda-Tham Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Respiratory distress, Hydro... OMIM:616268
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydronephrosis, Micropenis, Hypospadias ORPHA:163979
Choanal Atresia
Respiratory distress, Recurrent respiratory infections ORPHA:137914
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Cutis Laxa, Autosomal Recessive, Type Ia
Emphysema, Bladder diverticulum, Peripheral pulmonary artery stenosis, Recurrent respiratory infe... OMIM:219100
Campomelic Dysplasia
Recurrent upper respiratory tract infections, Respiratory distress, Apnea, Hydronephrosis, Recurr... OMIM:114290
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Micropenis, Hydronephrosis, Pulmonary hypoplasia ORPHA:83617
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Vesicoureteral reflux, Renal duplication, Fetal pyelectasis, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal duplication, Fetal pyelectasis, ... ORPHA:363958
Infantile Krabbe Disease
Respiratory distress, Opisthotonus ORPHA:206436
Dubowitz Syndrome
Hydronephrosis, Hypospadias ORPHA:235
Achondroplasia
Respiratory distress, Death in infancy, Pulmonary hypoplasia OMIM:100800
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Nasal flaring, Pelvic kidney, Dilatation of renal calices ORPHA:466943
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Hypoplasia of penis, Hypospadias, Epispadias ORPHA:2554
Craniofaciofrontodigital Syndrome
Respiratory distress, Dyspnea 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
Focal segmental glomerulosclerosis, Enuresis, Respiratory distress, Renal tubular acidosis, Prote... 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, Urinary incontinence, Recurrent upper respiratory tract infections, Recurre... ORPHA:404448
3Mc Syndrome 1
Hydronephrosis OMIM:257920
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Chime Syndrome
Hydronephrosis, Abnormality of the kidney ORPHA:3474
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Pneumonia, Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral ... ORPHA:353281
Robinow Syndrome, Autosomal Recessive 1
Nephrocalcinosis, Renal duplication, Nephrolithiasis, Hydronephrosis, Micropenis, Hypospadias OMIM:268310
Cryptococcosis
Pneumonia, Respiratory distress, Nodular pattern on pulmonary HRCT, Pleural effusion, Dyspnea ORPHA:1546
Congenital Myasthenic Syndrome
Apneic episodes precipitated by illness, fatigue, stress, Recurrent respiratory infections, Sudde... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Apneic episodes precipitated by illness, fatigue, stress, Recurrent respiratory infections, Sudde... ORPHA:98914
Osteopetrosis With Renal Tubular Acidosis
Distal renal tubular acidosis, Renal tubular acidosis, Nephrolithiasis, Hydronephrosis, Proximal ... ORPHA:2785
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress ORPHA:367
Restrictive Dermopathy
Ureteral duplication, Hypospadias, Pulmonary hypoplasia ORPHA:1662
Hydrolethalus Syndrome 1
Hydronephrosis, Hypospadias, Stillbirth, Abnormal lung lobation OMIM:236680
Kabuki Syndrome 1
Crossed fused renal ectopia, Ureteropelvic junction obstruction, Hydronephrosis, Micropenis, Recu... OMIM:147920
Floating-Harbor Syndrome
Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic kidney disease,... ORPHA:2044
Focal Dermal Hypoplasia
Hydronephrosis, Ureteral duplication, Bifid ureter, Horseshoe kidney OMIM:305600
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Tremor, Dystonia, Choreoathetosis ORPHA:2131
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Okamoto Syndrome
Urinary incontinence, Hydronephrosis, Unilateral renal hypoplasia, Ureteropelvic junction obstruc... ORPHA:2729
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hydronephrosis, Nephrotic syndrome, Pneumothorax OMIM:601776
Osteoglophonic Dysplasia
Respiratory distress, Chordee, Hypospadias OMIM:166250
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
8Q24.3 Microdeletion Syndrome
Unilateral renal agenesis, Bilateral renal hypoplasia, Abnormal lung lobation, Respiratory distre... ORPHA:508488
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis ORPHA:97360
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Leptospirosis
Acute kidney injury, Respiratory distress, Pulmonary hemorrhage, Pleural effusion, Cellular urina... ORPHA:509
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s... ORPHA:79500
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Horseshoe kidney OMIM:617088
Bardet-Biedl Syndrome
Chronic kidney disease, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Neurogenic bladd... ORPHA:110
Ulbright-Hodes Syndrome
Abnormal penis morphology, Renal hypoplasia, Respiratory distress, Pneumothorax, Polycystic kidne... ORPHA:3404
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Tetrasomy 9P
Recurrent urinary tract infections, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Micro... ORPHA:3310
Sarcoidosis, Susceptibility To, 1
Emphysema, Pleural effusion, Pulmonary infiltrates, Hypercalciuria, Dyspnea, Abnormal pulmonary i... OMIM:181000
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress ORPHA:1555
Arterial Tortuosity Syndrome
Respiratory distress, Pulmonary artery stenosis, Dyspnea ORPHA:3342
Rubinstein-Taybi Syndrome 1
Recurrent upper respiratory tract infections, Respiratory distress, Respiratory tract infection, ... OMIM:180849
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:615287
Nocardiosis
Pneumonia, Respiratory distress, Emphysema, Pleural effusion, Pneumothorax, Dyspnea, Pleuritis ORPHA:31204
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Respiratory distress, Dyspnea, Hypospadias, Epispadias ORPHA:2556
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Pneumonia, Respiratory dist... ORPHA:95455
Rodrigues Blindness
Nasal flaring OMIM:268320
Mgat2-Cdg
Respiratory distress, Recurrent upper and lower respiratory tract infections ORPHA:79329
Pachyonychia Congenita
Respiratory distress ORPHA:2309
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hydronephrosis, Dystonia, Recurrent pneumonia, Recurrent bronchitis OMIM:620330
Floating-Harbor Syndrome
Nephrocalcinosis, Glandular hypospadias, Hydronephrosis, Hypospadias, Congenital posterior urethr... OMIM:136140
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Pneumonia, Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Pneumonia, Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral ... ORPHA:353277
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula, Pulmon... ORPHA:93271
Charge Syndrome
Hydronephrosis, Micropenis, Vesicoureteral reflux, Horseshoe kidney ORPHA:138
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pleural effusion, Pulmonary infiltrates, Dyspnea, Pulmonary fibrosis ORPHA:3260
Pfeiffer Syndrome Type 2
Respiratory distress ORPHA:93259
Lacrimoauriculodentodigital Syndrome
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux ORPHA:2363
Peters-Plus Syndrome
Hydronephrosis, Ureteral duplication, Renal hypoplasia, Hypospadias OMIM:261540
1P36 Deletion Syndrome
Hydronephrosis, Renal cyst, Abnormality of the kidney, Hypoplasia of penis, Hypospadias ORPHA:1606
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress OMIM:183900
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dilatation of the renal pelvis, Pulmonary artery dilatation, Hyperechogenic kidneys, Medullary ne... OMIM:619534
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Wide penis, Vesicoureteral reflux, Action tremor, Tremor, Hyd... ORPHA:3455
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Hydronephrosis, Renal dysplasia, Recurrent upper and lower respiratory trac... ORPHA:480880
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea ORPHA:100050
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Dystonia OMIM:256810
Robinow Syndrome, Autosomal Dominant 1
Hydronephrosis, Micropenis, Renal duplication OMIM:180700
Liver Disease, Severe Congenital
Aminoaciduria, Pneumonia, Recurrent urinary tract infections, Hyperechogenic kidneys, Hydronephro... OMIM:619991
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Micropenis, Pulmonary hypoplasia OMIM:606170
Eisenmenger Syndrome
Respiratory distress, Aortopulmonary window, Exertional dyspnea, Renal insufficiency ORPHA:97214
Ramos-Arroyo Syndrome
Respiratory distress ORPHA:1051
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Duplication of renal pelvis, Abnormal lung lobation, Nep... OMIM:312870
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydronephrosis, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:363700
Complete Atrioventricular Septal Defect
Tachypnea, Intercostal retractions, Recurrent pneumonia ORPHA:1329
Oculopharyngodistal Myopathy 1
Respiratory distress, Tremor OMIM:164310
Otopalatodigital Syndrome, Type Ii
Hydronephrosis, Hypospadias, Stillbirth OMIM:304120
Viss Syndrome
Pulmonary artery aneurysm, Emphysema, Hydronephrosis, Pneumothorax, Dyspnea OMIM:619472
Acrofacial Dysostosis, Cincinnati Type
Hydronephrosis, Pulmonary artery stenosis, Pulmonary artery aneurysm, Laryngeal dystonia OMIM:616462
Generalized Arterial Calcification Of Infancy
Nephrocalcinosis, Cortical nephrocalcinosis, Respiratory distress, Medullary nephrocalcinosis, Hy... ORPHA:51608
Charge Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Hydronephrosis, Micropenis, Pulmonary artery ... OMIM:214800
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication, Abnormality... ORPHA:261537
Aortic Arch Interruption
Respiratory distress, Tachypnea, Exertional dyspnea, Aortopulmonary window ORPHA:2299
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Webbed penis, Multicystic kidney dysplasia, Duplication of renal pelvis, Vesicoureteral reflux, R... ORPHA:261552
Mowat-Wilson Syndrome
Webbed penis, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal duplication, Hydronephro... ORPHA:2152
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Unilateral renal agenesis, Recurrent pneumonia, D-2-hydroxyglutaric aciduria ORPHA:99646
Kasabach-Merritt Phenomenon
Respiratory distress, Hypopnea ORPHA:2330
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress OMIM:305100
Congenital Total Pulmonary Venous Return Anomaly
Mixed total anomalous pulmonary venous connection, Paroxysmal dyspnea, Respiratory distress, Apne... ORPHA:99125
Johanson-Blizzard Syndrome
Death in childhood, Hydronephrosis, Micropenis, Hypospadias, Urethrovaginal fistula OMIM:243800
Isolated Arrhinia
Respiratory distress ORPHA:1134
Cleidocranial Dysplasia 1
Respiratory distress OMIM:119600
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea ORPHA:3206
Alström Syndrome
Chronic kidney disease, Detrusor sphincter dyssynergia, Recurrent pneumonia, Recurrent upper resp... ORPHA:64
Pmm2-Cdg
Aspiration pneumonia, Respiratory distress, Proteinuria, Abnormal renal tubule morphology, Multip... ORPHA:79318
Plague
Respiratory distress, Acute infectious pneumonia 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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