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Gene: Foxd2 MGI:1347471

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Registered for phenotyping at IMPC

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

Gene Summary

Name:
forkhead box D2
Synonyms:
Mf2

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 Foxd2 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 Foxd2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis OMIM:264140
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Hydronephrosis OMIM:598500
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hypoplasia of penis, Hydroureter, Abnormality of the upper urinary tract, Abnormality of the bladder ORPHA:2547
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal... OMIM:601331
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Bladder Exstrophy And Epispadias Complex
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy OMIM:600057
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis OMIM:619362
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Megacystis, Hydronephrosis OMIM:619431
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea... OMIM:191800
Prune Belly Syndrome
Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Prune Belly Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete... ORPHA:2970
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Immunodeficiency, Common Variable, 6
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... OMIM:613496
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Xanthinuria, Type I
Xanthinuria, Xanthine nephrolithiasis, Hydronephrosis, Pyelonephritis OMIM:278300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Cloacal Exstrophy
Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horseshoe kidney, Ure... ORPHA:93929
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Hydronephrosis OMIM:222300
Noonan Syndrome 9
Hydroureter OMIM:616559
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Image Syndrome
Hypospadias, Hydronephrosis ORPHA:85173
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos... ORPHA:223
Vesicoureteral Reflux, X-Linked
Vesicoureteral reflux OMIM:314550
Vesicoureteral Reflux 1
Vesicoureteral reflux OMIM:193000
Ventriculomegaly With Defects Of The Radius And Kidney
Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney OMIM:602200
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Mandibulofacial Dysostosis With Alopecia
Hydroureter OMIM:616367
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis OMIM:615398
Caudal Duplication
Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia ORPHA:1756
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Hydronephrosis ORPHA:85285
Codas Syndrome
Hydroureter ORPHA:1458
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Abnormality of the ureter, Hypospadias, Renal hypoplasia/aplasia ORPHA:1046
Czeizel-Losonci Syndrome
Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydronephrosis ORPHA:2437
Penile Agenesis
Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o... ORPHA:49
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Multicystic kidney dysplasia, Hydroureter, Megacystis ORPHA:2241
Familial Visceral Myopathy
Vesicoureteral reflux, Hydroureter, Megacystis ORPHA:2604
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Renal hypoplasia OMIM:615996
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:568
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep... ORPHA:3467
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis ORPHA:261344
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Nephrolithiasis, Calcium Oxalate, 1
Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit... OMIM:167030
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Urinary bladder inflammation, Hydronephrosis, Hematuria, Aplasia of the bladd... ORPHA:79403
Penoscrotal Transposition
Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o... ORPHA:2842
Congenital Myopathy 19
Renal atrophy, Hydronephrosis OMIM:618578
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst OMIM:236500
Microcephaly 20, Primary, Autosomal Recessive
Ureteral agenesis, Hyperechogenic kidneys, Bilateral renal agenesis, Renal hypoplasia OMIM:617914
Carpenter Syndrome 1
Hydroureter, Hydronephrosis OMIM:201000
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Vesicoureteral reflux, Crossed fused renal ectopia, Pelvi... OMIM:300707
Caudal Regression Syndrome
Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure... ORPHA:3027
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Pallister-Hall Syndrome
Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Renal hypoplasia, Rena... OMIM:146510
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary... ORPHA:79404
Diabetic Embryopathy
Ureteral duplication, Micropenis, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:1926
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... OMIM:258040
Meckel Syndrome 12
Ureteral hypoplasia, Bilateral renal agenesis, Renal hypoplasia OMIM:616258
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:2995
Bladder Exstrophy
Recurrent urinary tract infections, Hypoplasia of penis, Epispadias, Abnormality of the ureter, V... ORPHA:93930
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Hydronephrosis OMIM:618265
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Abnormality of the urinary system, Aplasia of the bl... ORPHA:158684
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me... OMIM:604292
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
Ellis Van Creveld Syndrome
Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm... ORPHA:289
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis OMIM:619797
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia ORPHA:261265
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections OMIM:619218
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Hypertrophy of the urinary bladder, Unilateral renal dysplasia, Congenital megaurete... ORPHA:280633
Brain Malformations With Or Without Urinary Tract Defects
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis OMIM:613735
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
White-Kernohan Syndrome
Hydroureter, Hydronephrosis, Horseshoe kidney OMIM:619426
Silver-Russell Syndrome 1
Urethral valve, Hypospadias, Abnormality of the ureter, Congenital posterior urethral valve, Neph... OMIM:180860
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Raine Syndrome
Hydroureter, Hydronephrosis OMIM:259775
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,... ORPHA:1834
Stankiewicz-Isidor Syndrome
Ureteral duplication, Micropenis, Hypospadias OMIM:617516
Cockayne Syndrome Type 3
Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia... ORPHA:90324
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter OMIM:610759
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Bladder diverticulum, ... OMIM:129900
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Renal duplication OMIM:270420
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Micropenis, Hydronephrosis OMIM:269150
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of the urinary system, Congenital megau... ORPHA:369837
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Tetrasomy 15Q26
Hydronephrosis, Horseshoe kidney OMIM:614846
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Trisomy 13
Displacement of the urethral meatus, Abnormality of the ureter, Multiple renal cysts, Hydronephrosis ORPHA:3378
Simpson-Golabi-Behmel Syndrome
Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter... ORPHA:373
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Chand Syndrome
Hydroureter ORPHA:1401
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Bilateral renal agenesis, Unilateral renal agenesis, Hydroureter OMIM:619194
Hereditary Orotic Aciduria
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria ORPHA:30
Cardiac Valvular Dysplasia 1
Urethral diverticulum, Hydroureter, Hydronephrosis OMIM:212093
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Joubert Syndrome 37
Micropenis, Hydronephrosis OMIM:619185
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... OMIM:617666
Hardikar Syndrome
Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ... OMIM:301068
Koolen-De Vries Syndrome
Ureteral duplication, Hypospadias, Vesicoureteral reflux, Hydronephrosis, Renal duplication ORPHA:96169
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis OMIM:618494
Vici Syndrome
Renal tubular acidosis, Ureteral atresia ORPHA:1493
Noonan Syndrome 4
Ureteral duplication, Hydronephrosis OMIM:610733
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic aciduria, Hydronephrosis, Poly... OMIM:608836
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Hydronephrosis, Vesicoureteral ... OMIM:614080
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hypoplasia of penis, Hydronephrosis ORPHA:2083
22Q11.2 Duplication Syndrome
Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis ORPHA:1727
Fanconi Anemia
Recurrent urinary tract infections, Hydroureter, Hypospadias, Renal insufficiency, Renal hypoplas... ORPHA:84
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Renovascular hypertension, Renal tubular epithelial necrosis, Unila... ORPHA:49041
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Renal interstitial immunoglobulin deposits, Urinary bladder inf... ORPHA:449395
Ritscher-Schinzel Syndrome 1
Hypospadias, Hydronephrosis OMIM:220210
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Urban-Rogers-Meyer Syndrome
Hypoplasia of penis, Abnormality of the ureter ORPHA:3409
46,Xy Sex Reversal 4
Renal dysplasia, Ureteropelvic junction obstruction, Hydronephrosis OMIM:154230
Webb-Dattani Syndrome
Vesicoureteral reflux, Neurogenic bladder, Hyposthenuria, Hydronephrosis OMIM:615926
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis OMIM:104350
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Duplication of renal pelvis, Ureteral duplication ORPHA:457212
Distal Triplication 15Q
Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe kidney, Polycystic kidney dy... ORPHA:314588
Trisomy 17P
Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis ORPHA:261290
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Chromosome 17Q12 Deletion Syndrome
Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil... OMIM:614527
Fraser Syndrome 3
Ureteral agenesis, Hypoplasia of the bladder, Hypoplasia of penis, Bilateral renal agenesis OMIM:617667
Suleiman-El-Hattab Syndrome
Hydronephrosis OMIM:618950
Diphallia
Ureteral duplication, Renal malrotation, Hypospadias, Distal urethral duplication, Epispadias, Pe... ORPHA:227
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydroureter, Hypospadias, Dilatation of the renal pelvis, Dilatation of the bladder, Hydronephrosis OMIM:265380
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2636
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hypospadias, Vesicoureteral reflux, Micropenis, Hydronephrosis OMIM:301056
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Micropenis, Hypospadias, Hydronephrosis OMIM:616897
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Polycystic kidney dysplasia, Vesi... ORPHA:2237
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Renal-Hepatic-Pancreatic Dysplasia 1
Renal insufficiency, Stage 5 chronic kidney disease, Ureteral atresia, Polycystic kidney dysplasi... OMIM:208540
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Renal hypoplasia, Renal cyst, Vesicoureteral reflux, Hydronephrosis OMIM:618460
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:1770
Visceral Myopathy 1
Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis OMIM:155310
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Igg4-Related Aortitis
Hydronephrosis ORPHA:449400
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Zaki Syndrome
Renal agenesis, Hydronephrosis OMIM:619648
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis ORPHA:364028
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypospadias, Urolithiasis, Hyperuricosuria, Uric acid nephrolithiasis OMIM:300661
Melnick-Needles Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:2484
Baller-Gerold Syndrome
Vesicoureteral reflux, Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney ORPHA:1225
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... ORPHA:322
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral... ORPHA:391641
Duane-Radial Ray Syndrome
Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro... OMIM:607323
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Ectopic kidney, Renal hypoplasia, Hydronephrosis OMIM:135900
Beckwith-Wiedemann Syndrome
Ureteral duplication, Nephrolithiasis, Hypercalciuria, Congenital megaureter, Multiple renal cyst... ORPHA:116
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis ORPHA:1297
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Renal cyst, Vesicoureteral reflux, Micrope... ORPHA:261494
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney ORPHA:93260
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydronephrosis, Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract ORPHA:2273
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Glandular hypospadias... ORPHA:2473
Micro Syndrome
Hypoplasia of penis, Hydronephrosis, Abnormal localization of kidney ORPHA:2510
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis OMIM:620327
Peroxisome Biogenesis Disorder 4B
Ureterocele OMIM:614863
3C Syndrome
Hypoplasia of penis, Hypospadias, Hydronephrosis ORPHA:7
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia OMIM:618975
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Hydronephrosis ORPHA:2315
Congenital Disorder Of Glycosylation, Type Iig
Hemolytic-uremic syndrome, Renal insufficiency, Hypospadias, Hydronephrosis OMIM:611209
Peutz-Jeghers Syndrome
Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts ORPHA:2869
Al-Gazali Syndrome
Hydronephrosis OMIM:609465
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis OMIM:619179
Zellweger Syndrome
Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:912
Chromosome 2P16.1-P15 Deletion Syndrome
Micropenis, Hydronephrosis OMIM:612513
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis ORPHA:457193
Microphthalmia, Syndromic 9
Renal malrotation, Renal hypoplasia, Horseshoe kidney, Pelvic kidney, Hydronephrosis OMIM:601186
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, Renal artery stenosis, Hydronephrosis OMIM:617913
15Q Overgrowth Syndrome
Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Nephroblastoma, Hydronephrosis ORPHA:314585
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis OMIM:616449
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hydronephrosis OMIM:613001
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hydronephrosis ORPHA:541423
Cat Eye Syndrome
Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Horseshoe kidney OMIM:115470
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Teebi-Shaltout Syndrome
Ureteral stenosis, Hydronephrosis, Horseshoe kidney OMIM:272950
Smith-Magenis Syndrome
Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:819
Fryns Syndrome
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis ORPHA:2059
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Horseshoe kidney, Multiple renal cysts, Hydronephrosis ORPHA:99776
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney, Ectopic kidney OMIM:235510
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Hydronephrosis OMIM:617093
Tarp Syndrome
Hydronephrosis, Horseshoe kidney OMIM:311900
Musculocontractural Ehlers-Danlos Syndrome
Nephrolithiasis, Functional abnormality of the bladder, Hydronephrosis, Horseshoe kidney ORPHA:2953
Takenouchi-Kosaki Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis OMIM:616737
Genitopatellar Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:85201
Mosaic Trisomy 8
Vesicoureteral reflux, Hydronephrosis ORPHA:96061
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Hydronephrosis OMIM:617798
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Micropenis, Hydronephrosis OMIM:235255
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydronephrosis OMIM:618454
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ureter, Hypospadias ORPHA:2311
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Micropenis, Abnormal renal morphology, Hydronephrosis ORPHA:1655
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Rena... ORPHA:2322
Alg9-Cdg
Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal renal artery morphology, Hydronephrosis,... ORPHA:79328
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the... ORPHA:3339
2P15P16.1 Microdeletion Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:261349
8P Inverted Duplication/Deletion Syndrome
Micropenis, Abnormality of the urinary system, Hydronephrosis ORPHA:96092
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis OMIM:214100
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis OMIM:617557
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Koolen-De Vries Syndrome
Vesicoureteral reflux, Recurrent urinary tract infections, Hydronephrosis OMIM:610443
Stromme Syndrome
Bilateral renal hypoplasia, Hydronephrosis OMIM:243605
Alagille Syndrome
Nephrotic syndrome, Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:52
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Dextrocardia
Abnormal renal morphology, Abnormality of the ureter ORPHA:1666
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Micropenis, Renal agenesis, Hypospadias, Hydronephrosis OMIM:301040
1Q21.1 Microdeletion Syndrome
Vesicoureteral reflux, Hydronephrosis ORPHA:250989
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis OMIM:618653
Otopalatodigital Syndrome Type 2
Hydronephrosis, Hypospadias, Ureteral obstruction ORPHA:90652
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Reduced renal... OMIM:266920
Thauvin-Robinet-Faivre Syndrome
Renal malrotation, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia OMIM:617107
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Abnormality of the kidney, Hydronephrosis ORPHA:847
Congenital Disorder Of Glycosylation, Type Iie
Neurogenic bladder, Hydronephrosis OMIM:608779
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Renal dysplasia OMIM:300968
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Dilatation of the renal pelvis, Horseshoe kidney, Axial ... OMIM:274000
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464311
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Fryns Syndrome
Ureteral duplication, Renal agenesis, Hypospadias, Renal cyst, Hydronephrosis OMIM:229850
Cerebellar-Facial-Dental Syndrome
Ureteropelvic junction obstruction, Hydronephrosis ORPHA:444072
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Vesicoureteral reflux, Abnormal bladder morphology, Hydronephrosis ORPHA:453499
Basel-Vanagaite-Smirin-Yosef Syndrome
Male urethral meatus stenosis, Hydronephrosis, Hypospadias ORPHA:464738
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent urachus, Vesicoureteral refl... OMIM:192350
Focal Dermal Hypoplasia
Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia ORPHA:2092
Poland Syndrome
Duplicated collecting system, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Ureterocel... ORPHA:2911
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Knobloch Syndrome
Vesicoureteral reflux, Bifid ureter ORPHA:1571
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Congenital Disorder Of Glycosylation, Type It
Hydronephrosis OMIM:614921
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Hydronephrosis OMIM:271520
Au-Kline Syndrome
Vesicoureteral reflux, Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis OMIM:616580
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Unilateral renal agenesis, Renal cyst, Micropenis, Pelvic kidney, Hydronephrosis ORPHA:464306
Congenital Alveolar Capillary Dysplasia
Hydronephrosis ORPHA:210122
Eec Syndrome
Hypospadias, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hydronephrosis ORPHA:1896
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter ORPHA:3253
Cardiofaciocutaneous Syndrome 1
Hydronephrosis OMIM:115150
Erdheim-Chester Disease
Hydronephrosis, Renal insufficiency, Dysuria ORPHA:35687
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Hydronephrosis ORPHA:900
Heterotaxy, Visceral, 5, Autosomal
Ureteral duplication, Ureteral stenosis, Renal hypoplasia OMIM:270100
Occipital Horn Syndrome
Hydronephrosis, Bladder diverticulum, Ureteral obstruction OMIM:304150
Opitz Gbbb Syndrome
Vesicoureteral reflux, Abnormality of the urinary system, Hypospadias, Hydronephrosis ORPHA:2745
Early Infantile Epileptic Encephalopathy
Micropenis, Renal dysplasia, Ureterocele ORPHA:1934
7Q11.23 Microduplication Syndrome
Enuresis, Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:96121
Distal Deletion 12Q
Ectopic kidney, Polycystic kidney dysplasia, Vesicoureteral reflux, Micropenis, Hydronephrosis ORPHA:96149
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney ORPHA:500095
Cardiofaciocutaneous Syndrome
Hydronephrosis ORPHA:1340
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder OMIM:616973
Peutz-Jeghers Syndrome
Abnormality of the ureter, Bladder polyp OMIM:175200
Trisomy 18
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:3380
Knobloch Syndrome 1
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication OMIM:267750
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction ORPHA:1826
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia ORPHA:564
Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis OMIM:300712
Cousin Syndrome
Hydronephrosis OMIM:260660
Tarp Syndrome
Hydronephrosis, Horseshoe kidney ORPHA:2886
Robinow Syndrome, Autosomal Recessive 1
Nephrolithiasis, Nephrocalcinosis, Micropenis, Hydronephrosis, Renal duplication OMIM:268310
Trisomy 8P
Nephrocalcinosis, Fetal pyelectasis, Hydronephrosis, Micropenis ORPHA:264450
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Abnorma... ORPHA:818
Microphthalmia, Syndromic 1
Hydroureter, Hypospadias, Renal hypoplasia, Renal hypoplasia/aplasia OMIM:309800
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Unilateral renal agenesis OMIM:308050
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un... OMIM:270400
Melnick-Needles Syndrome
Ureteral stenosis, Hydronephrosis OMIM:309350
Dubowitz Syndrome
Hypospadias, Hydronephrosis ORPHA:235
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Micropenis, Hypospadias, Hydronephrosis ORPHA:163979
Proboscis Lateralis
Ureteral agenesis, Duplication of renal pelvis, Unilateral renal agenesis ORPHA:141099
Apert Syndrome
Hydronephrosis OMIM:101200
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Ureteropelvic junction obstruction, Hydronephrosis OMIM:280000
Schinzel-Giedion Syndrome
Hypospadias, Abnormality of the ureter, Nephrolithiasis, Renal cyst, Micropenis, Nephroblastoma, ... ORPHA:798
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Multiple bladder diverticula OMIM:613177
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Ureterocele OMIM:616734
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Hydronephrosis, Urachus fistula OMIM:612541
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Unilateral renal agenesis ORPHA:487796
Osteopetrosis With Renal Tubular Acidosis
Nephrolithiasis, Proximal renal tubular acidosis, Renal tubular acidosis, Distal renal tubular ac... ORPHA:2785
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Grade III vesicoureteral r... OMIM:619522
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Hydronephrosis OMIM:251260
Monosomy 22Q13.3
Vesicoureteral reflux, Recurrent pyelonephritis, Renal dysplasia, Hydronephrosis ORPHA:48652
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis ORPHA:2750
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:1507
Acrorenal-Mandibular Syndrome
Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia OMIM:200980
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Hypospadias, Fetal pyelectasis, Vesicoureteral reflux, Hydron... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Hypospadias, Fetal pyelectasis, Vesicoureteral reflux, Hydron... ORPHA:363958
3Mc Syndrome 1
Hydronephrosis OMIM:257920
Ileal Neuroendocrine Tumor
Hydronephrosis ORPHA:100078
Floating-Harbor Syndrome
Hypospadias, Renal agenesis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Rena... ORPHA:2044
Chime Syndrome
Hydronephrosis, Abnormality of the kidney ORPHA:3474
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Vesicoureteral reflux, Hydronephrosis ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Vesicoureteral reflux, Hydronephrosis ORPHA:352665
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Hydron... ORPHA:709
Robinow Syndrome
Webbed penis, Micropenis, Multicystic kidney dysplasia, Hydronephrosis ORPHA:97360
Focal Dermal Hypoplasia
Ureteral duplication, Bifid ureter, Hydronephrosis, Horseshoe kidney OMIM:305600
Jacobsen Syndrome
Multicystic kidney dysplasia, Hydronephrosis ORPHA:2308
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:615287
Okamoto Syndrome
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Urinary incontinence, Hydronephr... ORPHA:2729
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Glycosuria OMIM:600001
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Hypospadias, Abnormality of the kidney, Renal agenesis... ORPHA:821
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hypospadias, Nephrolithiasis, Abnormality of the urinary syst... ORPHA:353281
Gabriele-De Vries Syndrome
Ureteropelvic junction obstruction, Hydronephrosis ORPHA:506358
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Hydronephrosis OMIM:616268
Schwartz-Jampel Syndrome
Abnormality of the urinary system, Abnormality of the ureter, Nephrolithiasis ORPHA:800
Tetrasomy 9P
Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr... ORPHA:3310
Restrictive Dermopathy 1
Ureteral duplication, Hypospadias OMIM:275210
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Nephrocalcinosis, Congenital posterior urethral valve, Hydron... OMIM:136140
Charge Syndrome
Vesicoureteral reflux, Micropenis, Hydronephrosis, Horseshoe kidney ORPHA:138
Restrictive Dermopathy
Ureteral duplication, Hypospadias ORPHA:1662
1P36 Deletion Syndrome
Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Renal cyst, Hydronephrosis ORPHA:1606
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication ORPHA:2255
Lacrimoauriculodentodigital Syndrome
Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis ORPHA:2363
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Nephrotic syndrome, Hydronephrosis OMIM:601776
Peters-Plus Syndrome
Hydronephrosis, Ureteral duplication, Hypospadias, Renal hypoplasia OMIM:261540
Campomelic Dysplasia
Hypospadias, Hydronephrosis OMIM:114290
Kabuki Syndrome 1
Ureteropelvic junction obstruction, Micropenis, Crossed fused renal ectopia, Hydronephrosis OMIM:147920
Meckel Syndrome, Type 1
Hypoplasia of the bladder, Renal agenesis, Abnormality of the ureter, Polycystic kidney dysplasia... OMIM:249000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Micropenis, Hydronephrosis ORPHA:83617
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis ORPHA:93271
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Nephrolithiasis, Abno... ORPHA:353277
Rubinstein-Taybi Syndrome 1
Hypospadias, Hydronephrosis OMIM:180849
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
Robinow Syndrome, Autosomal Dominant 1
Micropenis, Hydronephrosis, Renal duplication OMIM:180700
Congenital Tracheal Stenosis
Abnormality of the ureter, Abnormality of the kidney ORPHA:141127
Doors Syndrome
Nephrocalcinosis, Abnormality of the urinary system, Hydronephrosis, Increased urine alpha-ketogl... ORPHA:79500
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal renal morphology, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:363700
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis ORPHA:438213
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Hypospadias, Wide penis, Vesicoureteral reflux, Dilatation of... ORPHA:3455
Liver Disease, Severe Congenital
Recurrent urinary tract infections, Hypospadias, Aminoaciduria, Alpha-aminobutyric aciduria, Hype... OMIM:619991
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Hydronephrosis, Unilateral renal agenesis OMIM:188400
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hydronephrosis, Enlarged ki... OMIM:312870
Hydrolethalus Syndrome 1
Hypospadias, Hydronephrosis OMIM:236680
Biliary, Renal, Neurologic, And Skeletal Syndrome
Dark urine, Renal insufficiency, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, ... OMIM:619534
Charge Syndrome
Renal agenesis, Renal hypoplasia, Horseshoe kidney, Micropenis, Hydronephrosis OMIM:214800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hydronephrosis OMIM:620330
Genitopatellar Syndrome
Micropenis, Multicystic kidney dysplasia, Hydronephrosis OMIM:606170
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Hydronephrosis, Renal dysplasia ORPHA:480880
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Chordee, Vesicoureteral reflux, ... ORPHA:261537
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Chord... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Duplication of renal pelvis, Cho... ORPHA:261552
Otopalatodigital Syndrome, Type Ii
Hypospadias, Hydronephrosis OMIM:304120
Viss Syndrome
Hydronephrosis OMIM:619472
Johanson-Blizzard Syndrome
Micropenis, Hypospadias, Hydronephrosis, Urethrovaginal fistula OMIM:243800

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 Foxd2

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 Foxd2.

No publications found that use IMPC mice or data for Foxd2.

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MGI Allele Allele Type Produced
Foxd2em1(IMPC)Hmgu Deletion Mice

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