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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
Hydronephrosis, Abnormality of the kidney, Hydroureter, Abnormality of the urinary system, Abnorm... ORPHA:2838
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Ureter, Cancer Of
Neoplasm of the ureter OMIM:191600
Congenital Anomalies Of Kidney And Urinary Tract 2
Hydronephrosis, Hydroureter, Ureteropelvic junction obstruction, Congenital megaureter, Renal ins... OMIM:143400
Congenital Primary Megaureter
Recurrent urinary tract infections, Hydronephrosis, Microscopic hematuria, Congenital megaureter,... ORPHA:617
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Vesicoureteral Reflux 3
Recurrent urinary tract infections, Hydronephrosis, Grade IV vesicoureteral reflux, Hydroureter, ... OMIM:613674
Congenital Anomalies Of Kidney And Urinary Tract 3
Hydronephrosis, Ectopic kidney, Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypopl... OMIM:618270
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydronephrosis, Enuresis, Hydroureter, Urethral valve, Urethr... OMIM:236730
Renal Hypodysplasia/Aplasia 3
Hydronephrosis, Horseshoe kidney, Renal dysplasia, Vesicoureteral reflux, Multicystic kidney dysp... 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, Hydronephrosis, Abnormal renal physiology, Enlarged kidney, R... 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
Enlarged kidney, Abnormal renal calyx morphology, Hydroureter, Abnormal nephron morphology, Multi... ORPHA:93108
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Hinman Syndrome
Recurrent urinary tract infections, Hydronephrosis, Enuresis, Renal insufficiency, Vesicoureteral... ORPHA:84085
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Urofacial Syndrome 2
Recurrent urinary tract infections, Hydronephrosis, Enuresis, Spastic/hyperactive bladder, Megacy... OMIM:615112
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Hydroureter, Nephrolithiasis, Vesicoureteral reflux OMIM:617219
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnormality of the upper urinary tract ORPHA:2547
Renal Dysplasia, Cystic, Susceptibility To
Renal insufficiency, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Cystic renal... OMIM:601331
Atresia Of Urethra
Recurrent urinary tract infections, Hydronephrosis, Megacystis, Hydroureter, Renal insufficiency,... ORPHA:105
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Nephrolithiasis, Hematuria, Urolithiasis,... OMIM:614723
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Epispadias, Hydroureter, Unilateral renal agenesis, Bladder exstrophy OMIM:600057
Renal Hypoplasia
Recurrent urinary tract infections, Hydronephrosis, Proteinuria, Abnormal renal morphology, Vesic... ORPHA:93101
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Hydronephrosis, Stage 2 chronic kidney disease, Neurogenic bl... OMIM:191800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Fetal megacystis, Megacystis OMIM:619362
Prune Belly Syndrome
Hydronephrosis, Congenital posterior urethral valve, Hydroureter OMIM:100100
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Hydronephrosis, Urogenital sinus anomaly, Hydroureter, Renal hypoplasia/aplasia, Abnormality of t... ORPHA:2973
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Hypouricemia, Renal, 1
Proteinuria, Acute kidney injury, Uric acid nephrolithiasis, Hyperuricosuria, Renal cortical hype... OMIM:220150
Prune Belly Syndrome
Recurrent urinary tract infections, Hydroureter, Abnormality of the ureter, Renal insufficiency, ... ORPHA:2970
Congenital Anomalies Of Kidney And Urinary Tract 1
Stage 5 chronic kidney disease, Ureteropelvic junction obstruction, Unilateral renal agenesis, Ve... OMIM:610805
Immunodeficiency, Common Variable, 6
Hydronephrosis, Glomerulonephritis, Stage 5 chronic kidney disease, Enlarged kidney, Macroscopic ... OMIM:613496
Bardet-Biedl Syndrome 12
Hydronephrosis, Cystic renal dysplasia, Hydroureter OMIM:615989
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Ochoa Syndrome
Recurrent urinary tract infections, Hydronephrosis, Urinary incontinence, Renal insufficiency, Ur... ORPHA:2704
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Primary Hyperoxaluria Type 2
Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, Renal insufficiency, ... ORPHA:93599
Xanthinuria, Type I
Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Pyelonephritis OMIM:278300
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis OMIM:618845
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal insufficiency, Renal hypoplasia OMIM:615996
Cloacal Exstrophy
Horseshoe kidney, Hydroureter, Ureteropelvic junction obstruction, Ectopic kidney, Renal hypoplas... ORPHA:93929
Wolfram Syndrome 1
Hydroureter, Neurogenic bladder, Hydronephrosis OMIM:222300
Noonan Syndrome 9
Hydroureter OMIM:616559
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Posterior Urethral Valve
Recurrent urinary tract infections, Enuresis nocturna, Unilateral renal dysplasia, Hydronephrosis... ORPHA:93110
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Hydroureter, Renal insufficiency, Functional abnormality of the bladder, 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
Horseshoe kidney, Ureteral duplication, Renal agenesis, 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, Nephrocalcinosis, Renal cyst, Hydroureter, Hypercalciuria OMIM:615398
Caudal Duplication
Abnormal penis morphology, Renal hypoplasia/aplasia, Ureteral duplication ORPHA:1756
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
Codas Syndrome
Hydroureter ORPHA:1458
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Czeizel-Losonci Syndrome
Hydronephrosis, Ureteral agenesis, Congenital megaureter, Abnormality of the urinary system ORPHA:2437
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis ORPHA:1046
Penile Agenesis
Hydronephrosis, Fetal pyelectasis, Hydroureter, Urethral fistula, Abnormality of the bladder, Abs... ORPHA:49
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Hydroureter, Multicystic kidney dysplasia, Megacystis ORPHA:2241
Familial Visceral Myopathy
Hydroureter, Vesicoureteral reflux, Megacystis ORPHA:2604
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Microphthalmia, Lenz Type
Hydroureter, Renal hypoplasia/aplasia, Hypospadias, Hydronephrosis ORPHA:568
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal dysplasia, Ureteral agenesis, Renal hypoplasia, Renal cyst OMIM:236500
Bor Syndrome
Hydronephrosis, Ureteropelvic junction obstruction, Renal insufficiency, Renal hypoplasia/aplasia... ORPHA:107
Mckusick-Kaufman Syndrome
Polycystic kidney dysplasia, Vesicovaginal fistula, Hydroureter, Hydronephrosis OMIM:236700
Renal Agenesis
Proteinuria, Renal insufficiency, Unilateral renal agenesis, Renal agenesis, Bilateral renal agen... ORPHA:411709
Hereditary Xanthinuria
Recurrent urinary tract infections, Hydronephrosis, Acute kidney injury, Uric acid nephrolithiasi... ORPHA:3467
Trisomy 1Q
Hydronephrosis, Multicystic kidney dysplasia, Congenital megaureter ORPHA:261344
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Marden-Walker Syndrome
Hydronephrosis, Abnormality of the kidney, Hydroureter, Epispadias, Renal hypoplasia/aplasia, Ren... ORPHA:2461
Junctional Epidermolysis Bullosa With Pyloric Atresia
Hydronephrosis, Renal duplication, Urinary bladder inflammation, Renal dysplasia, Hematuria, Uret... ORPHA:79403
Congenital Myopathy 19
Hydronephrosis, Renal atrophy OMIM:618578
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the ureter, Renal dysplasia, Abnormality of the urethra... ORPHA:2842
Carpenter Syndrome 1
Hydroureter, Hydronephrosis OMIM:201000
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Ureteropelvic junction obstruction, Acute kidney injury, Hyperox... OMIM:167030
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hydronephrosis, Hypoplasia of the bladder, Pelvic kidney, Hydroureter, Vesicoureteral reflux, Cro... OMIM:300707
Joubert Syndrome 35
Recurrent urinary tract infections, Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia OMIM:618161
Fanconi Anemia, Complementation Group O
Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst OMIM:613390
Pallister-Hall Syndrome
Hydronephrosis, Micropenis, Renal cyst, Ectopic kidney, Hydroureter, Renal dysplasia, Distal uret... OMIM:146510
Caudal Regression Syndrome
Ectopic kidney, Abnormality of the ureter, Renal insufficiency, Ureteral duplication, Vesicourete... ORPHA:3027
Severe Generalized Junctional Epidermolysis Bullosa
Recurrent urinary tract infections, Hydronephrosis, Urinary retention, Renal cyst, Hydroureter, U... ORPHA:79404
Microcephaly 20, Primary, Autosomal Recessive
Bilateral renal agenesis, Hyperechogenic kidneys, Ureteral agenesis, Renal hypoplasia OMIM:617914
Diabetic Embryopathy
Hydronephrosis, Renal hypoplasia/aplasia, Micropenis, Ureteral duplication ORPHA:1926
Oeis Complex
Hydronephrosis, Micropenis, Hydroureter, Epispadias, Duplicated collecting system, Vesicovaginal ... OMIM:258040
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux OMIM:619217
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis ORPHA:2995
Bladder Exstrophy
Recurrent urinary tract infections, Epispadias, Abnormality of the ureter, Hypoplasia of penis, B... ORPHA:93930
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux OMIM:618265
Epidermolysis Bullosa Simplex With Pyloric Atresia
Hydronephrosis, Renal duplication, Renal dysplasia, Abnormality of the urethra, Glomerular sclero... ORPHA:158684
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Meckel Syndrome 12
Bilateral renal agenesis, Renal hypoplasia, Ureteral hypoplasia OMIM:616258
Ellis Van Creveld Syndrome
Abnormality of the kidney, Epispadias, Hydroureter, Abnormality of the ureter, Renal hypoplasia/a... ORPHA:289
Frontometaphyseal Dysplasia 1
Hydroureter, Hydronephrosis OMIM:305620
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydronephrosis, Micropenis, Megacystis, Hydroureter, Duplicated collecting system, Bladder divert... OMIM:604292
17Q12 Microdeletion Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureterocele ORPHA:261265
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis OMIM:619797
Endove Syndrome, Limb-Brain Type
Recurrent urinary tract infections, Hydronephrosis, Neurogenic bladder OMIM:619218
Distal Duplication 6P
Hydronephrosis, Abnormality of the urinary system, Renal hypoplasia ORPHA:1745
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydronephrosis, Unilateral renal dysplasia, Abnormal renal collecting system morphology, Hydroure... ORPHA:280633
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Vesicoureteral reflux, Renal hypoplasia OMIM:613735
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Raine Syndrome
Hydroureter, Hydronephrosis OMIM:259775
Silver-Russell Syndrome 1
Abnormality of the ureter, Urethral valve, Congenital posterior urethral valve, Nephroblastoma, H... OMIM:180860
Axial Mesodermal Dysplasia Spectrum
Hydronephrosis, Renal cyst, Abnormality of the ureter, Renal hypoplasia/aplasia, Abnormal localiz... ORPHA:1834
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
White-Kernohan Syndrome
Horseshoe kidney, Hydroureter, Hydronephrosis OMIM:619426
Stankiewicz-Isidor Syndrome
Ureteral duplication, Micropenis, Hypospadias OMIM:617516
Cockayne Syndrome Type 3
Hydronephrosis, Urinary retention, Neurogenic bladder, Hydroureter, Renal insufficiency, Unilater... ORPHA:90324
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hydroureter OMIM:610759
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Renal duplication, Ureteral duplication OMIM:270420
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydronephrosis, Micropenis, Hydroureter, Duplicated collecting system, Bladder diverticulum, Rena... OMIM:129900
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Absence of renal corticomedullary differentiation, Decreased numbers of nephrons, Bifid ureter, M... OMIM:617641
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Schinzel-Giedion Midface Retraction Syndrome
Hydronephrosis, Ureteral stenosis, Micropenis, Hydroureter, Hypospadias OMIM:269150
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Nephrocalcinosis, Renal cyst, Congenital megaureter, Hypercalciuria, Renal dysplasia, Abnormality... ORPHA:369837
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Trisomy 13
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Displacement of the urethral meatus ORPHA:3378
Simpson-Golabi-Behmel Syndrome
Hydronephrosis, Hydroureter, Hypoplasia of penis, Multicystic kidney dysplasia, Ureteral duplicat... ORPHA:373
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Chand Syndrome
Hydroureter ORPHA:1401
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Bilateral renal agenesis, Hydroureter, Unilateral renal agenesis OMIM:619194
Hereditary Orotic Aciduria
Abnormality of the ureter, Oroticaciduria, Aminoaciduria, Orotic acid crystalluria ORPHA:30
Cardiac Valvular Dysplasia 1
Hydroureter, Urethral diverticulum, Hydronephrosis OMIM:212093
Joubert Syndrome 37
Hydronephrosis, Micropenis OMIM:619185
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Fraser Syndrome 2
Unilateral renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal agenesis, Renal hyp... OMIM:617666
Hardikar Syndrome
Recurrent urinary tract infections, Hydronephrosis, Hypoplasia of the bladder, Pyelonephritis, Hy... OMIM:301068
Vici Syndrome
Ureteral atresia, Renal tubular acidosis ORPHA:1493
Koolen-De Vries Syndrome
Hydronephrosis, Renal duplication, Ureteral duplication, Vesicoureteral reflux, Hypospadias ORPHA:96169
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia OMIM:618494
Noonan Syndrome 4
Hydronephrosis, Ureteral duplication OMIM:610733
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Polycystic kidney dysplasia, Hydronephrosis, Enlarged kidney, Renal insufficiency, Renal dysplasi... OMIM:608836
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydronephrosis, Bladder trabeculation, Renal dysplasia, Ureteral duplication, Vesicoureteral refl... OMIM:614080
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Hypoplasia of penis ORPHA:2083
Fanconi Anemia
Recurrent urinary tract infections, Abnormal renal morphology, Abnormal preputium morphology, Hyd... ORPHA:84
Igg4-Related Retroperitoneal Fibrosis
Hydronephrosis, Acute kidney injury, Ureteropelvic junction obstruction, Renal insufficiency, Nep... ORPHA:49041
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Hypospadias OMIM:220210
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
22Q11.2 Duplication Syndrome
Hydronephrosis, Displacement of the urethral meatus, Urethral stenosis ORPHA:1727
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Hypoplasia of penis ORPHA:3409
46,Xy Sex Reversal 4
Renal dysplasia, Hydronephrosis, Ureteropelvic junction obstruction OMIM:154230
Webb-Dattani Syndrome
Hydronephrosis, Hyposthenuria, Vesicoureteral reflux, Neurogenic bladder OMIM:615926
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydronephrosis, Ureteral triplication OMIM:104350
Distal Triplication 15Q
Polycystic kidney dysplasia, Hydronephrosis, Abnormality of the kidney, Dilatation of the renal p... ORPHA:314588
Netherton Syndrome
Ectopic kidney, Hydronephrosis, Aminoaciduria ORPHA:634
Trisomy 17P
Polycystic kidney dysplasia, Hydronephrosis, Hypoplasia of penis, Urethral valve, Urethral stenosis ORPHA:261290
Scalp-Ear-Nipple Syndrome
Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephritis, Duplication of ren... ORPHA:2036
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hydronephrosis, Dilatation of the renal pelvis, Hydroureter, Dilatation of the bladder, Hypospadias OMIM:265380
Igg4-Related Kidney Disease
Hydronephrosis, Proteinuria, Acute kidney injury, Urinary bladder inflammation, Enlarged kidney, ... ORPHA:449395
Chromosome 17Q12 Deletion Syndrome
Recurrent urinary tract infections, Hydronephrosis, Stage 5 chronic kidney disease, Hypoplasia of... OMIM:614527
Fraser Syndrome 3
Bilateral renal agenesis, Ureteral agenesis, Hypoplasia of the bladder, Hypoplasia of penis OMIM:617667
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Suleiman-El-Hattab Syndrome
Hydronephrosis OMIM:618950
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Ureteral duplication, Duplication of renal pelvis ORPHA:457212
Vacterl/Vater Association
Hydronephrosis, Ectopic kidney, Hypoplasia of penis, Abnormality of the urethra, Multicystic kidn... ORPHA:887
Diphallia
Renal duplication, Horseshoe kidney, Penoscrotal transposition, Epispadias, Renal malrotation, Bl... ORPHA:227
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydronephrosis, Abnormality of the kidney, Hydroureter, Abnormality of the urinary system, Abnorm... ORPHA:2636
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hydronephrosis, Micropenis, Duplicated collecting system, Vesicoureteral reflux, Hypospadias OMIM:301056
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Renal insufficiency, Unilateral renal agenesis, Rena... ORPHA:2237
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydronephrosis, Micropenis, Hypospadias OMIM:616897
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Renal-Hepatic-Pancreatic Dysplasia 1
Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Ureteral atresia, R... OMIM:208540
Khan-Khan-Katsanis Syndrome
Hydronephrosis, Renal cyst, Ureteral duplication, Vesicoureteral reflux, Renal hypoplasia OMIM:618460
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:1770
Visceral Myopathy 1
Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis OMIM:155310
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
Igg4-Related Aortitis
Hydronephrosis ORPHA:449400
Feingold Syndrome Type 1
Hydronephrosis, Abnormality of the kidney, Vesicoureteral reflux, Horseshoe kidney, Renal insuffi... ORPHA:391641
Trisomy 20P
Hydronephrosis, Abnormality of the kidney, Abnormality of the ureter, Multiple renal cysts, Abnor... ORPHA:261318
X-Linked Intellectual Disability Due To Gria3 Mutations
Hydronephrosis, Micropenis ORPHA:364028
Phosphoribosylpyrophosphate Synthetase Superactivity
Uric acid nephrolithiasis, Hyperuricosuria, Renal insufficiency, Urolithiasis, Hypospadias OMIM:300661
Melnick-Needles Syndrome
Hydronephrosis, Vesicoureteral reflux ORPHA:2484
Baller-Gerold Syndrome
Abnormality of the ureter, Hydronephrosis, Abnormal localization of kidney, Vesicoureteral reflux ORPHA:1225
Zaki Syndrome
Hydronephrosis, Renal agenesis OMIM:619648
Exstrophy-Epispadias Complex
Bladder fistula, Abnormality of the kidney, Renal duplication, Horseshoe kidney, Penoscrotal tran... ORPHA:322
Duane-Radial Ray Syndrome
Hydronephrosis, Horseshoe kidney, Renal malrotation, Vesicoureteral reflux, Crossed fused renal e... OMIM:607323
Aredyld Syndrome
Abnormality of the ureter ORPHA:1133
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis ORPHA:1297
Coffin-Siris Syndrome 1
Hydronephrosis, Ectopic kidney, Hydroureter, Renal hypoplasia, Hypospadias OMIM:135900
Beckwith-Wiedemann Syndrome
Enlarged kidney, Congenital megaureter, Multiple renal cysts, Nephropathy, Hypercalciuria, Nephro... ORPHA:116
Kleefstra Syndrome
Hydronephrosis, Micropenis, Renal cyst, Renal insufficiency, Hypoplasia of penis, Vesicoureteral ... ORPHA:261494
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Hydronephrosis ORPHA:2273
Pfeiffer Syndrome Type 3
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux ORPHA:93260
Mckusick-Kaufman Syndrome
Hydronephrosis, Urogenital sinus anomaly, Renal hypoplasia/aplasia, Glandular hypospadias, Multic... ORPHA:2473
Micro Syndrome
Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis ORPHA:2510
3C Syndrome
Hydronephrosis, Hypospadias, Hypoplasia of penis ORPHA:7
Peroxisome Biogenesis Disorder 4B
Ureterocele OMIM:614863
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia OMIM:618975
Johanson-Blizzard Syndrome
Hydronephrosis, Hypospadias, Hypoplasia of penis ORPHA:2315
Peutz-Jeghers Syndrome
Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma ORPHA:2869
Al-Gazali Syndrome
Hydronephrosis OMIM:609465
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis OMIM:619179
Congenital Disorder Of Glycosylation, Type Iig
Hydronephrosis, Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome OMIM:611209
Zellweger Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypospadias ORPHA:912
Chromosome 2P16.1-P15 Deletion Syndrome
Hydronephrosis, Micropenis OMIM:612513
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis ORPHA:457193
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hydronephrosis, Nephrocalcinosis, Renal artery stenosis, Aminoaciduria, Renal hypoplasia OMIM:617913
Microphthalmia, Syndromic 9
Hydronephrosis, Horseshoe kidney, Renal malrotation, Pelvic kidney, Renal hypoplasia OMIM:601186
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Hypospadias OMIM:616449
Encephalocraniocutaneous Lipomatosis
Pelvic kidney, Hydronephrosis OMIM:613001
15Q Overgrowth Syndrome
Abnormal renal morphology, Hydronephrosis, Horseshoe kidney, Nephroblastoma, Ureterovesical stenosis ORPHA:314585
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hydronephrosis, Duplicated collecting system ORPHA:541423
15q26 overgrowth syndrome
Polycystic kidney dysplasia, Hydronephrosis, Abnormality of the kidney, Duplication of renal pelv... DECIPHER:81
Teebi-Shaltout Syndrome
Horseshoe kidney, Hydronephrosis, Ureteral stenosis OMIM:272950
Cat Eye Syndrome
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux, Renal agenesis OMIM:115470
Mosaic Trisomy 9
Hydronephrosis, Horseshoe kidney, Multiple renal cysts, Hypoplasia of penis, Renal dysplasia ORPHA:99776
Fryns Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypospadias ORPHA:2059
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux, Ectopic kidney OMIM:235510
Smith-Magenis Syndrome
Abnormality of the ureter, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:819
Carey-Fineman-Ziter Syndrome
Hydronephrosis, Glandular hypospadias ORPHA:1358
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hydronephrosis, Duplicated collecting system OMIM:617093
Tarp Syndrome
Horseshoe kidney, Hydronephrosis OMIM:311900
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Musculocontractural Ehlers-Danlos Syndrome
Horseshoe kidney, Hydronephrosis, Nephrolithiasis, Functional abnormality of the bladder ORPHA:2953
Mosaic Trisomy 8
Hydronephrosis, Vesicoureteral reflux ORPHA:96061
Takenouchi-Kosaki Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias OMIM:616737
Intellectual Developmental Disorder, Autosomal Dominant 53
Hydronephrosis, Micropenis OMIM:617798
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hydronephrosis, Micropenis OMIM:235255
Developmental Delay With Or Without Dysmorphic Facies And Autism
Hydronephrosis, Renal cyst, Microphallus, Vesicoureteral reflux, Renal hypoplasia OMIM:618454
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ureter, Hypospadias ORPHA:2311
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Abnormal renal morphology, Micropenis, Hydronephrosis ORPHA:1655
Alg9-Cdg
Hydronephrosis, Hypoplasia of the bladder, Enlarged kidney, Abnormal renal artery morphology, Ure... ORPHA:79328
Kabuki Syndrome
Hydronephrosis, Ureteropelvic junction obstruction, Duplicated collecting system, Renal hypoplasi... ORPHA:2322
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
8P Inverted Duplication/Deletion Syndrome
Hydronephrosis, Abnormality of the urinary system, Micropenis ORPHA:96092
Toriello-Lacassie-Droste Syndrome
Abnormality of the ureter, Epispadias, Abnormality of the bladder, Abnormal penis morphology, Hyp... ORPHA:3339
Peroxisome Biogenesis Disorder 1A (Zellweger)
Renal cortical microcysts, Hydronephrosis, Albuminuria, Aminoaciduria, Hypospadias OMIM:214100
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
Stromme Syndrome
Hydronephrosis, Bilateral renal hypoplasia OMIM:243605
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Hydronephrosis, Vesicoureteral reflux OMIM:610443
Alagille Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Nephrotic syndrome ORPHA:52
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hydronephrosis, Renal agenesis, Micropenis, Hypospadias OMIM:301040
Dextrocardia
Abnormality of the ureter, Abnormal renal morphology ORPHA:1666
Gabriele-De Vries Syndrome
Hydronephrosis, Ureteropelvic junction obstruction OMIM:617557
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hydronephrosis, Abnormality of the kidney, Hypoplasia of penis ORPHA:847
Otopalatodigital Syndrome Type 2
Hydronephrosis, Ureteral obstruction, Hypospadias ORPHA:90652
Congenital Disorder Of Glycosylation, Type Iie
Hydronephrosis, Neurogenic bladder OMIM:608779
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Stage 5 chronic kidney disease, Renal cyst, Reduced renal corticomedullary d... OMIM:266920
1Q21.1 Microdeletion Syndrome
Hydronephrosis, Vesicoureteral reflux ORPHA:250989
Thauvin-Robinet-Faivre Syndrome
Bifid ureter, Renal cyst, Renal dysplasia, Renal malrotation, Nephroblastoma OMIM:617107
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Renal dysplasia, Hydronephrosis OMIM:300968
Thrombocytopenia-Absent Radius Syndrome
Dilatation of the renal pelvis, Horseshoe kidney, Renal malrotation, Axial malrotation of the kid... OMIM:274000
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis OMIM:302960
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Hydronephrosis, Micropenis, Renal cyst, Unilateral renal agenesis, Pelvic kidney, Hypospadias ORPHA:464311
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Pelvic kidney, Vesicoureteral reflux, Micropenis, Hydronephrosis OMIM:618653
Cerebellar-Facial-Dental Syndrome
Hydronephrosis, Ureteropelvic junction obstruction ORPHA:444072
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Hydronephrosis, Vesicoureteral reflux, Abnormality of bladder morphology ORPHA:453499
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Vater/Vacterl Association
Hydronephrosis, Ectopic kidney, Ureteropelvic junction obstruction, Patent urachus, Renal dysplas... OMIM:192350
Focal Dermal Hypoplasia
Horseshoe kidney, Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia ORPHA:2092
Campomelic Dysplasia
Hydronephrosis ORPHA:140
Congenital Disorder Of Glycosylation, Type It
Hydronephrosis OMIM:614921
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Poland Syndrome
Duplicated collecting system, Renal hypoplasia/aplasia, Ureterocele, Vesicoureteral reflux, Renal... ORPHA:2911
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Male urethral meatus stenosis, Hypospadias ORPHA:464738
Knobloch Syndrome
Vesicoureteral reflux, Bifid ureter ORPHA:1571
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Fryns Syndrome
Hydronephrosis, Renal cyst, Ureteral duplication, Renal agenesis, Hypospadias OMIM:229850
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Urethral atresia OMIM:271520
Au-Kline Syndrome
Hydronephrosis, Dilatation of the renal pelvis, Vesicoureteral reflux, Chronic kidney disease OMIM:616580
Dyrk1A-Related Intellectual Disability Syndrome
Hydronephrosis, Micropenis, Renal cyst, Unilateral renal agenesis, Pelvic kidney, Hypospadias ORPHA:464306
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Eec Syndrome
Hydronephrosis, Renal hypoplasia/aplasia, Urethral atresia, Vesicoureteral reflux, Hypospadias ORPHA:1896
Congenital Alveolar Capillary Dysplasia
Hydronephrosis ORPHA:210122
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
7Q11.23 Microduplication Syndrome
Enuresis, Hydronephrosis, Unilateral renal agenesis, Hypospadias ORPHA:96121
Occipital Horn Syndrome
Hydronephrosis, Ureteral obstruction, Bladder diverticulum OMIM:304150
Heterotaxy, Visceral, 5, Autosomal
Ureteral stenosis, Renal hypoplasia, Ureteral duplication OMIM:270100
Opitz Gbbb Syndrome
Hydronephrosis, Vesicoureteral reflux, Abnormality of the urinary system, Hypospadias ORPHA:2745
Granulomatosis With Polyangiitis
Hydronephrosis, Proteinuria, Ureteral stenosis, Glomerulopathy, Renal insufficiency, Hematuria ORPHA:900
Early Infantile Epileptic Encephalopathy
Renal dysplasia, Micropenis, Ureterocele ORPHA:1934
Cardiofaciocutaneous Syndrome
Hydronephrosis ORPHA:1340
Distal Deletion 12Q
Polycystic kidney dysplasia, Hydronephrosis, Micropenis, Ectopic kidney, Vesicoureteral reflux ORPHA:96149
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Bifid ureter, Enlarged kidney, Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma ORPHA:500095
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
Hydronephrosis, Duplicated collecting system, Renal duplication, Bifid ureter OMIM:267750
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Ureteropelvic junction obstruction, Neurogenic bladder OMIM:616973
Craniofacioskeletal Syndrome
Hydronephrosis, Hypospadias OMIM:300712
Cousin Syndrome
Hydronephrosis OMIM:260660
Meckel Syndrome
Multicystic kidney dysplasia, Urethral atresia, Ureteral duplication ORPHA:564
Tarp Syndrome
Horseshoe kidney, Hydronephrosis ORPHA:2886
Robinow Syndrome, Autosomal Recessive 1
Hydronephrosis, Renal duplication, Nephrocalcinosis, Micropenis, Nephrolithiasis OMIM:268310
Frontometaphyseal Dysplasia
Hydronephrosis, Ureteral obstruction, Urethral stenosis ORPHA:1826
Trisomy 8P
Hydronephrosis, Fetal pyelectasis, Nephrocalcinosis, Micropenis ORPHA:264450
Smith-Lemli-Opitz Syndrome
Hydronephrosis, Ureteropelvic junction obstruction, Renal hypoplasia/aplasia, Hypoplasia of penis... ORPHA:818
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Unilateral renal agenesis OMIM:308050
Melnick-Needles Syndrome
Hydronephrosis, Ureteral stenosis OMIM:309350
Microphthalmia, Syndromic 1
Hydroureter, Renal hypoplasia/aplasia, Renal hypoplasia, Hypospadias OMIM:309800
Smith-Lemli-Opitz Syndrome
Hydronephrosis, Penoscrotal hypospadias, Micropenis, Renal cyst, Ureteropelvic junction obstructi... OMIM:270400
Dubowitz Syndrome
Hydronephrosis, Hypospadias ORPHA:235
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydronephrosis, Micropenis, Hypospadias ORPHA:163979
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Hydronephrosis, Urachus fistula OMIM:612541
Proboscis Lateralis
Ureteral agenesis, Unilateral renal agenesis, Duplication of renal pelvis ORPHA:141099
Apert Syndrome
Hydronephrosis OMIM:101200
Schinzel-Giedion Syndrome
Hydronephrosis, Micropenis, Renal cyst, Abnormality of the ureter, Nephrolithiasis, Nephroblastom... ORPHA:798
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hydronephrosis, Ureteropelvic junction obstruction, Duplicated collecting system OMIM:280000
Ileal Neuroendocrine Tumor
Hydronephrosis ORPHA:100078
Jejunal Neuroendocrine Tumor
Hydronephrosis ORPHA:100077
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Multiple bladder diverticula OMIM:613177
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Ureterocele OMIM:616734
Osteopetrosis With Renal Tubular Acidosis
Proximal renal tubular acidosis, Hydronephrosis, Nephrolithiasis, Renal tubular acidosis, Distal ... ORPHA:2785
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Enuresis, Hydronephrosis, Urinary incontinence, Ureteropelvic junction obstruction, Chordee, Grad... OMIM:619522
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias ORPHA:487796
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Hydronephrosis OMIM:251260
Orofaciodigital Syndrome Type 1
Hydronephrosis, Proteinuria, Multicystic kidney dysplasia, Renal insufficiency ORPHA:2750
Autosomal Recessive Robinow Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis ORPHA:1507
Acrorenal-Mandibular Syndrome
Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder OMIM:200980
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Hydronephrosis, Renal duplication, Fetal pyelectasis, Vesicou... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Hydronephrosis, Renal duplication, Fetal pyelectasis, Vesicou... ORPHA:363958
Floating-Harbor Syndrome
Polycystic kidney dysplasia, Hydronephrosis, Dilatation of the renal pelvis, Nephrocalcinosis, St... ORPHA:2044
3Mc Syndrome 1
Hydronephrosis OMIM:257920
Chime Syndrome
Hydronephrosis, Abnormality of the kidney ORPHA:3474
Split Cord Malformation
Hydronephrosis, Renal duplication, Neurogenic bladder, Horseshoe kidney, Functional abnormality o... 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
Monosomy 22Q13.3
Renal dysplasia, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephritis ORPHA:48652
Focal Dermal Hypoplasia
Horseshoe kidney, Hydronephrosis, Bifid ureter, Ureteral duplication OMIM:305600
Duodenal Neuroendocrine Tumor
Hydronephrosis ORPHA:100076
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:615287
Robinow Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Webbed penis, Micropenis ORPHA:97360
Jacobsen Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:2308
Peters Plus Syndrome
Hydronephrosis, Renal duplication, Renal hypoplasia/aplasia, Ureteral duplication, Multicystic ki... ORPHA:709
Okamoto Syndrome
Urinary incontinence, Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Hydronephr... ORPHA:2729
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Sotos Syndrome
Hydronephrosis, Abnormality of the kidney, Phimosis, Ureteropelvic junction obstruction, Renal in... ORPHA:821
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Ureteral duplication OMIM:600001
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Hydronephrosis OMIM:616268
Gabriele-De Vries Syndrome
Hydronephrosis, Ureteropelvic junction obstruction ORPHA:506358
Charge Syndrome
Horseshoe kidney, Vesicoureteral reflux, Micropenis, Hydronephrosis ORPHA:138
Floating-Harbor Syndrome
Hydronephrosis, Nephrocalcinosis, Congenital posterior urethral valve, Glandular hypospadias, Hyp... OMIM:136140
Restrictive Dermopathy 1
Ureteral duplication, Hypospadias OMIM:275210
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hydronephrosis, Nephrolithiasis, Vesicoureteral reflux, Abnor... ORPHA:353281
Schwartz-Jampel Syndrome
Abnormality of the ureter, Nephrolithiasis, Abnormality of the urinary system ORPHA:800
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hydronephrosis, Nephrotic syndrome OMIM:601776
Tetrasomy 9P
Recurrent urinary tract infections, Hydronephrosis, Micropenis, Horseshoe kidney, Multiple renal ... ORPHA:3310
Restrictive Dermopathy
Ureteral duplication, Hypospadias ORPHA:1662
1P36 Deletion Syndrome
Hydronephrosis, Abnormality of the kidney, Renal cyst, Hypoplasia of penis, Hypospadias ORPHA:1606
Lacrimoauriculodentodigital Syndrome
Hydronephrosis, Vesicoureteral reflux, Renal hypoplasia ORPHA:2363
Campomelic Dysplasia
Hydronephrosis, Hypospadias OMIM:114290
Peters-Plus Syndrome
Hydronephrosis, Hypospadias, Renal hypoplasia, Ureteral duplication OMIM:261540
Kabuki Syndrome 1
Hydronephrosis, Ureteropelvic junction obstruction, Crossed fused renal ectopia, Micropenis OMIM:147920
Meckel Syndrome, Type 1
Polycystic kidney dysplasia, Hypoplasia of the bladder, Abnormality of the ureter, Cystic renal d... OMIM:249000
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hydronephrosis, Micropenis ORPHA:83617
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication ORPHA:2255
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hydronephrosis, Urethrovaginal fistula, Renal cyst, Hypoplasia of penis, Renal hypoplasia ORPHA:93271
Rubinstein-Taybi Syndrome 1
Hydronephrosis, Hypospadias OMIM:180849
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
Robinow Syndrome, Autosomal Dominant 1
Hydronephrosis, Renal duplication, Micropenis OMIM:180700
Congenital Tracheal Stenosis
Abnormality of the ureter, Abnormality of the kidney ORPHA:141127
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hydronephrosis, Abnormality of the kidney, Nephrolithiasis, V... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hydronephrosis, Abnormality of the kidney, Nephrolithiasis, V... ORPHA:353277
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Abnormal renal morphology, Renal hypoplasia/aplasia, Hydronephrosis ORPHA:363700
Doors Syndrome
Hydronephrosis, Abnormality of the urinary system, Increased urine alpha-ketoglutarate concentrat... ORPHA:79500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Vesicoureteral reflux, Nephrolithiasis, Hydronephrosis ORPHA:438213
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Wide penis, Hydronephrosis, Dilatation of renal calices, Vesi... ORPHA:3455
Liver Disease, Severe Congenital
Recurrent urinary tract infections, Hydronephrosis, Alpha-aminobutyric aciduria, Aminoaciduria, H... OMIM:619991
Digeorge Syndrome
Renal dysplasia, Hydronephrosis, Renal insufficiency, Unilateral renal agenesis OMIM:188400
Simpson-Golabi-Behmel Syndrome, Type 1
Hydronephrosis, Enlarged kidney, Renal cyst, Duplication of renal pelvis, Nephroblastoma, Hypospa... OMIM:312870
Hydrolethalus Syndrome 1
Hydronephrosis, Hypospadias OMIM:236680
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydronephrosis, Dilatation of the renal pelvis, Stage 5 chronic kidney disease, Renal insufficien... OMIM:619534
Charge Syndrome
Hydronephrosis, Micropenis, Horseshoe kidney, Renal agenesis, Renal hypoplasia OMIM:214800
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Micropenis OMIM:606170
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Renal dysplasia, Hydronephrosis ORPHA:480880
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hydronephrosis, Vesicoureteral reflux, Micropenis, Pelvic kidney, Renal duplication, Urinary inco... ORPHA:261537
Mowat-Wilson Syndrome
Hydronephrosis, Abnormality of the kidney, Vesicoureteral reflux, Micropenis, Pelvic kidney, Rena... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hydronephrosis, Vesicoureteral reflux, Micropenis, Pelvic kidney, Duplication of renal pelvis, Re... ORPHA:261552
Otopalatodigital Syndrome, Type Ii
Hydronephrosis, Hypospadias OMIM:304120
Viss Syndrome
Hydronephrosis OMIM:619472
Johanson-Blizzard Syndrome
Hydronephrosis, Micropenis, Urethrovaginal fistula, Hypospadias 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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