Gene Summary

Name:
solute carrier family 41, member 3
Synonyms:
SLC41A1-L2,  1010001P06Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal gait Slc41a3tm1a(KOMP)Wtsi HOM   Early adult 3.40×10-07
limb grasping Slc41a3tm1a(KOMP)Wtsi HOM Early adult 6.89×10-05

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 4)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 25% (1 of 4)
Bone N/A heterozygote 0.0% (0 of 4)
Brain N/A heterozygote 100% (4 of 4)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 4)
Gall bladder N/A heterozygote 0.0% (0 of 4)
Heart N/A heterozygote 75% (3 of 4)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 4)
Large intestine N/A heterozygote 0.0% (0 of 4)
Liver N/A heterozygote 0.0% (0 of 4)
Lower urinary tract N/A heterozygote 0.0% (0 of 4)
Lung N/A heterozygote 0.0% (0 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mammary gland N/A heterozygote 0.0% (0 of 4)
Esophagus N/A heterozygote 0.0% (0 of 4)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 4)
Oviduct N/A heterozygote 25% (1 of 4)
Pancreas N/A heterozygote 0.0% (0 of 4)
Parathyroid gland N/A heterozygote 0.0% (0 of 4)
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Prostate gland N/A heterozygote 50% (2 of 4)
Skeletal muscle tissue N/A heterozygote 0.0% (0 of 4)
Skin N/A heterozygote 0.0% (0 of 4)
Small intestine N/A heterozygote 0.0% (0 of 4)
Spinal cord N/A heterozygote 0.0% (0 of 4)
Spleen N/A heterozygote 0.0% (0 of 4)
Stomach N/A heterozygote 0.0% (0 of 4)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 50% (2 of 4)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 0.0% (0 of 4)
Trachea N/A heterozygote 0.0% (0 of 4)
Uterus N/A heterozygote 25% (1 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Legacy Phenotype Associated Images

View all 66 images

Human diseases caused by Slc41a3 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 Slc41a3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypomagnesemia 4, Renal
Hypomagnesemia OMIM:611718
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Psychogenic Movement Disorders
Gait disturbance ORPHA:71519
Benign Hereditary Chorea
Gait disturbance ORPHA:1429
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Hypomagnesemia 6, Renal
Hypomagnesemia, Impaired renal tubular reabsorption of magnesium OMIM:613882
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ... ORPHA:564178
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria OMIM:620152
Renal Caliceal Diverticuli-Deafness Syndrome
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2838
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Hypocalcemia, Autosomal Dominant 1
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca... OMIM:601198
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Hypomagnesemia OMIM:616418
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium... OMIM:618314
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypocalcemic seizures ORPHA:2239
Hypomagnesemia 2, Renal
Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia OMIM:154020
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Congenital Anomalies Of Kidney And Urinary Tract 3
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... OMIM:618270
Dystonia 22, Adult-Onset
Upper limb postural tremor, Retrocollis, Gait disturbance, Torticollis, Focal dystonia OMIM:620456
Renal Hypodysplasia/Aplasia 3
Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephr... OMIM:617805
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi... ORPHA:617
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Ureteropelvic junction obstruction, Renal ... OMIM:143400
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect... OMIM:248190
Immunodeficiency, Common Variable, 6
Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly... OMIM:613496
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia, Proteinuria, Hypon... OMIM:613845
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Ring Chromosome 8 Syndrome
Hydronephrosis, Abnormality of the ureter ORPHA:1450
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Hypercalciuria, Hypercalcemia OMIM:145980
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness
Hydronephrosis, Hydroureter OMIM:264140
Renal Dysplasia
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... ORPHA:93108
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Hydronephrosis, Abnormality of the urinary system ORPHA:2669
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Nephrocalcinosis, Hypercalcemia OMIM:211000
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Hypocalciuria, Nephrolithiasis, Parathormone-independent increased renal tubular... OMIM:145981
Vesicoureteral Reflux 3
Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico... OMIM:613674
Humero-Radio-Ulnar Synostosis
Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ataxia, Unsteady gait, Inte... OMIM:616053
East Syndrome
Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Renal sodium... ORPHA:199343
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E... ORPHA:84085
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Hydronephrosis, Urethral v... OMIM:236730
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Nephronophthisis 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico... OMIM:604387
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Renal... OMIM:619902
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:618883
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro... OMIM:600740
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary... OMIM:619743
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Enlarged kidney OMIM:615285
Uremic Pruritus
Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Stage 5 chronic kidney disease, ... ORPHA:94059
Colchicine Poisoning
Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosp... ORPHA:31824
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron... OMIM:191800
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Orthostatic Hypotension 1
Elevated circulating dihydroxyphenylacetic acid concentration, Hypomagnesemia, Increased blood ur... OMIM:223360
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... ORPHA:85445
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Abnormal renal tubular resorption, Nephrocalcinosis, Hypomagnesemia, Hypocalcemic tetany, Hypocal... ORPHA:73224
Neurodevelopmental Disorder With Language Delay And Seizures
Hypomagnesemia OMIM:619908
Vesicoureteral Reflux 2
Renal hypoplasia, Vesicoureteral reflux OMIM:610878
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Hypomagnesemia, Renal sodium wasting, Hypokalemia, Polyuria, Renal salt ... OMIM:612780
Hypomagnesemia 3, Renal
Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating... OMIM:248250
Primary Hyperoxaluria Type 2
Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ... ORPHA:93599
Bartter Syndrome Type 4
Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Stage 5 chronic ki... ORPHA:89938
Xanthinuria, Type I
Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Hyperxanthin... OMIM:278300
Diarrhea 10, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Polyuria, Hypertriglyceridemia, Rena... OMIM:618183
Autosomal Dominant Hypocalcemia
Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypercalciuria, Hypermagnesiuria ORPHA:428
Helix Syndrome
Hypermagnesemia, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Hypokalemia, Polyuria OMIM:617671
Hypercalcemia, Infantile, 2
Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Hypophosph... OMIM:616963
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... OMIM:601678
Lower Limb Malformation-Hypospadias Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2487
Refractory Celiac Disease
Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
Adenine Phosphoribosyltransferase Deficiency
Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d... OMIM:614723
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Ureteral dysgenesis, Renal agenesis OMIM:274265
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Hypocalciuria, Hypomagnesiuria, Nephrolithiasis, Paratho... ORPHA:405
Macdermot-Winter Syndrome
Hydronephrosis OMIM:247990
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra... OMIM:241150
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Gitelman Syndrome
Hypocalciuria, Enuresis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Nocturia... OMIM:263800
Kenny-Caffey Syndrome, Type 1
Hypocalcemia, Hypomagnesemia OMIM:244460
Hypouricemia, Renal, 1
Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati... OMIM:220150
Meckel Syndrome, Type 8
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Neuroleptic Malignant Syndrome
Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated cir... ORPHA:94093
Cystinosis, Nephropathic
Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Hepatomegaly, Aminoac... OMIM:219800
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... OMIM:610805
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency
Abnormal circulating biopterin concentration, Hyperphenylalaninemia, Abnormal circulating neopter... ORPHA:1578
Hyperparathyroidism 1
Hypercalcemia OMIM:145000
Hereditary Xanthinuria
Hypouricemia, Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, I... ORPHA:3467
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Hyperchloriduria, Nephrocalcinosis, Increased... OMIM:241200
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Ureterocele
Duplicated collecting system, Ureterocele OMIM:191650
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating long chain fatty acid concentration, Increased total bilirubin, Elevated cir... OMIM:608836
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Abnormal blood ion concentration, Splenomegaly, Hypocalcemia, De... ORPHA:37042
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Increased blood urea nitrogen, Membranoproliferative glomerulonephritis, Macroscopic... ORPHA:251004
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Cat-Eye Syndrome
Hydronephrosis, Abnormal localization of kidney, Renal hypoplasia/aplasia ORPHA:195
Image Syndrome
Hydronephrosis, Hypospadias ORPHA:85173
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Urinary retention, Hypomagnesemia, Decreased urinary potassium, Transient h... ORPHA:79102
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Hereditary Fructose Intolerance
Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Hypophosphatemia, He... ORPHA:469
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency... ORPHA:105
Ureter, Bifid Or Double
Ureteral duplication OMIM:191550
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, I... OMIM:179800
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Small Cell Carcinoma Of The Bladder
Hematuria, Hypercalcemia, Dysuria, Recurrent urinary tract infections ORPHA:284400
Hyperparathyroidism 4
Hypercalcemia, Nephrolithiasis OMIM:617343
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
X-Linked Intellectual Disability, Schimke Type
Hydronephrosis, Vesicoureteral reflux ORPHA:85285
8P23.1 Duplication Syndrome
Hydronephrosis ORPHA:251076
Gitelman Syndrome
Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Hypomagnesemia, Renal tubular acid... ORPHA:358
Bardet-Biedl Syndrome 19
Hydronephrosis, Renal hypoplasia, Renal insufficiency OMIM:615996
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Hyperur... OMIM:232200
Nephrolithiasis, Calcium Oxalate, 1
Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr... OMIM:167030
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Nephrocalcinosis, Hypercalciuria, Hypercalcemia, Renal tubular acidosis OMIM:239199
Pearson Syndrome
Glycosuria, Hypomagnesemia, Renal insufficiency, Splenomegaly, Hypocalcemia, Proteinuria, Renal c... ORPHA:699
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Abnormality of the ureter, Splenomegaly, Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias ORPHA:1046
Caudal Duplication Anomaly
Ureteral duplication OMIM:607864
Hypoparathyroidism, Familial Isolated, 1
Nephrocalcinosis, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia OMIM:146200
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Orofaciodigital Syndrome Xv
Hydronephrosis OMIM:617127
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypophosphatemic ri... OMIM:276700
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Hypoalbuminemia, Splenomegaly, Proteinuria, Hepato... OMIM:617303
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Hyperlipidemia, Splenom... OMIM:232220
Bor Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ... ORPHA:107
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Abnormality of the urethra, Renal hypoplasia/aplasia, ... ORPHA:2973
Congenital Myopathy 19
Hydronephrosis, Renal atrophy OMIM:618578
Prune Belly Syndrome
Hydronephrosis, Hydroureter, Congenital posterior urethral valve OMIM:100100
Igg4-Related Kidney Disease
Chronic kidney disease, Acute kidney injury, Decreased retinol-binding protein level, Urinary bla... ORPHA:449395
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia OMIM:608022
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Joubert Syndrome 35
Renal fibrosis, Multicystic kidney dysplasia, Hydronephrosis, Recurrent urinary tract infections OMIM:618161
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Fanconi Anemia, Complementation Group O
Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease OMIM:613390
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Hydroureter, Megacystis OMIM:619431
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Splenomegaly, Hypocalce... OMIM:617913
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Hydroureter, Fetal megacystis OMIM:619362
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hypocalcemia, Hydronephros... ORPHA:2237
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Renal-Hepatic-Pancreatic Dysplasia 1
Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Ureteral atresia, Hepatomegaly... OMIM:208540
Prune Belly Syndrome
Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the... ORPHA:2970
Penoscrotal Transposition
Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Abnormality of the ureter,... ORPHA:2842
Webb-Dattani Syndrome
Vesicoureteral reflux, Hydronephrosis, Neurogenic bladder, Hyposthenuria, Hypernatremia OMIM:615926
Desmoid Tumor
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis OMIM:619797
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal hypoplasia, E... OMIM:174000
Distal Duplication 6P
Hydronephrosis, Renal hypoplasia, Abnormality of the urinary system ORPHA:1745
Bardet-Biedl Syndrome 12
Hydronephrosis, Hydroureter, Cystic renal dysplasia OMIM:615989
Igg4-Related Retroperitoneal Fibrosis
Acute kidney injury, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, ... ORPHA:49041
Tetraploidy
Hydronephrosis, Renal hypoplasia/aplasia ORPHA:3305
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Vesicoureteral reflux OMIM:618265
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Renal duplication, Hematuria, ... ORPHA:79403
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis... OMIM:154230
Endove Syndrome, Limb-Only Type
Hydronephrosis, Vesicoureteral reflux OMIM:619217
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Hyperammonemia, Hydronephrosis, Decreased serum zinc, Duplicated collecting syst... OMIM:617093
Endove Syndrome, Limb-Brain Type
Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections OMIM:619218
Brain Malformations With Or Without Urinary Tract Defects
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux OMIM:613735
H Syndrome
Hepatosplenomegaly, Abnormality of the kidney, Hypertriglyceridemia, Micropenis, Enlarged kidney ORPHA:168569
Diabetic Embryopathy
Hydronephrosis, Ureteral duplication, Micropenis, Renal hypoplasia/aplasia ORPHA:1926
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... OMIM:130650
Axial Mesodermal Dysplasia Spectrum
Abnormality of the urinary system, Abnormality of the ureter, Renal hypoplasia/aplasia, Hydroneph... ORPHA:1834
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglyca... ORPHA:505248
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis OMIM:249210
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Stage 5 chronic kidney disease, Hyperlipidemia, Hyperuricemia, Nephrolithiasis,... ORPHA:79259
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Vesicoureteral reflux, Hydroureter, Nephrolithiasis OMIM:617219
Lethal Congenital Contracture Syndrome 2
Hydronephrosis OMIM:607598
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney OMIM:613091
Congenital Disorder Of Glycosylation, Type Iiaa
Unilateral renal agenesis, Hyperammonemia, Hydronephrosis, Hypercholesterolemia, Hepatomegaly OMIM:620454
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hydronephrosis OMIM:620141
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... ORPHA:731
Silver-Russell Syndrome 1
Abnormality of the ureter, Nephroblastoma, Urethral valve, Hypospadias, Congenital posterior uret... OMIM:180860
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Recombinant Chromosome 8 Syndrome
Hydronephrosis OMIM:179613
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Igg4-Related Aortitis
Hydronephrosis, Elevated circulating C-reactive protein concentration ORPHA:449400
Kaposiform Lymphangiomatosis
Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney ORPHA:464329
Bladder Exstrophy
Recurrent urinary tract infections, Abnormality of the ureter, Vesicoureteral reflux, Hypoplasia ... ORPHA:93930
Joubert Syndrome 37
Hydronephrosis, Hepatomegaly, Micropenis OMIM:619185
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, Unilateral renal agenesis OMIM:609757
Trisomy 13
Hydronephrosis, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral meatus ORPHA:3378
Bladder Exstrophy And Epispadias Complex
Unilateral renal agenesis, Hydroureter, Horseshoe kidney, Bladder exstrophy, Epispadias OMIM:600057
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Hydronephrosis, Unilateral renal agenesis, Renal hypoplasia OMIM:618494
Wolfram Syndrome 1
Hydronephrosis, Neurogenic bladder, Hydroureter OMIM:222300
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Vesicoureteral reflux, Elevated circulating creatine kinase concentration, Hydronephrosis, Hepato... OMIM:301056
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Hepatosplenomegaly, Hydronephrosis, Decreased serum zinc ORPHA:541423
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Unilateral renal agenesis, Hypomagnesemia, Hepatosplenomegaly, Hypocalcemia, Micropenis, Pelvic k... OMIM:619503
Tetrasomy 15Q26
Horseshoe kidney, Hydronephrosis OMIM:614846
Toluene Embryopathy
Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Caudal Regression Syndrome
Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d... ORPHA:3027
Endocrine-Cerebroosteodysplasia
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys OMIM:612651
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatosplenomegaly, Splenomegaly, Hypocalcemia, Hydronephrosis, Abnormal renal morphology, Hepato... ORPHA:1655
Hyperparathyroidism, Transient Neonatal
Unilateral renal agenesis, Enlarged kidney OMIM:618188
Czeizel-Losonci Syndrome
Ureteral agenesis, Congenital megaureter, Abnormality of the urinary system, Hydronephrosis ORPHA:2437
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Splenomegaly, Hypocalcemia, Hydronephrosis, Micropenis, Hepatomegaly, Hypoproteinemia OMIM:235255
Alg9-Cdg
Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Hepatomegaly, Ureter... ORPHA:79328
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ureteral duplication, Ectopic kidney, Renal agenesis OMIM:602200
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Beta-Mercaptolactate Cysteine Disulfiduria
Abnormality of the ureter ORPHA:1035
Leprechaunism
Nephrocalcinosis, Long penis, Hypokalemia, Hypercalciuria, Enlarged ovaries, Hepatomegaly, Enlarg... ORPHA:508
Beckwith-Wiedemann Syndrome
Nephropathy, Visceromegaly, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Nephrolithiasis,... ORPHA:116
Mucolipidosis Ii Alpha/Beta
Increased serum beta-hexosaminidase, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomeg... OMIM:252500
Fliedner-Zweier Syndrome
Hydronephrosis, Unilateral renal agenesis, Multicystic kidney dysplasia OMIM:620511
22Q11.2 Duplication Syndrome
Hydronephrosis, Urethral stenosis, Displacement of the urethral meatus ORPHA:1727
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Hydronephrosis, Hypoplasia of penis ORPHA:2083
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos... ORPHA:223
Trisomy 17P
Hydronephrosis, Hypoplasia of penis, Urethral valve, Polycystic kidney dysplasia, Urethral stenosis ORPHA:261290
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hydronephrosis, Micropenis, Cardiomegaly, Hypospadias OMIM:616897
Ritscher-Schinzel Syndrome 1
Hydronephrosis, Hypospadias OMIM:220210
Netherton Syndrome
Aminoaciduria, Hydronephrosis, Ectopic kidney ORPHA:634
Hemihyperplasia-Multiple Lipomatosis Syndrome
Enlarged kidney, Nephroblastoma ORPHA:276280
Severe Generalized Junctional Epidermolysis Bullosa
Multicystic kidney dysplasia, Hydroureter, Ureterocele, Urinary retention, Recurrent urinary trac... ORPHA:79404
Penile Agenesis
Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilateral renal hypoplasia, H... ORPHA:49
Distal Triplication 15Q
Dilatation of the renal pelvis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormality of ... ORPHA:314588
Suleiman-El-Hattab Syndrome
Hydronephrosis OMIM:618950
Johanson-Blizzard Syndrome
Hydronephrosis, Hypoplasia of penis, Hypospadias, Hypoproteinemia ORPHA:2315
Vacterl/Vater Association
Multicystic kidney dysplasia, Abnormality of the urethra, Renal agenesis, Hydronephrosis, Ectopic... ORPHA:887
Trisomy 1Q
Congenital megaureter, Multicystic kidney dysplasia, Hydronephrosis ORPHA:261344
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic acid crystalluria ORPHA:30
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Nephroblastoma, Renal malrotation, Enlarged kidney ORPHA:500095
Kury-Isidor Syndrome
Hydronephrosis OMIM:619762
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormality of the ureter, Hypospadias ORPHA:2522
9Q21.13 Microdeletion Syndrome
Hydronephrosis ORPHA:531151
Koolen-De Vries Syndrome
Vesicoureteral reflux, Renal duplication, Hydronephrosis, Ureteral duplication, Hypospadias ORPHA:96169
Urban-Rogers-Meyer Syndrome
Abnormality of the ureter, Hypoplasia of penis ORPHA:3409
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Hydronephrosis ORPHA:488613
Mesomelia-Synostoses Syndrome
Hydronephrosis ORPHA:2496
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Hydronephrosis ORPHA:364028
Microphthalmia, Lenz Type
Hydronephrosis, Hypospadias, Hydroureter, Renal hypoplasia/aplasia ORPHA:568
Trisomy 20P
Abnormality of the ureter, Hydronephrosis, Multiple renal cysts, Abnormality of the kidney, Abnor... ORPHA:261318
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Vesicoureteral reflux, Hydronephrosis, Bladder trabeculation, Ureteral duplication, Ureteral hypo... OMIM:614080
Noonan Syndrome 4
Hydronephrosis, Ureteral duplication OMIM:610733
Zaki Syndrome
Hydronephrosis, Renal agenesis OMIM:619648
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Marden-Walker Syndrome
Abnormal penis morphology, Multicystic kidney dysplasia, Abnormality of the urinary system, Hydro... ORPHA:2461
Aredyld Syndrome
Hepatomegaly, Abnormality of the ureter, Splenomegaly ORPHA:1133
Kleefstra Syndrome
Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Micropenis, Hypoplasia of... ORPHA:261494
Meacham Syndrome
Horseshoe kidney, Enlarged kidney OMIM:608978
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hydronephrosis, Left ventricular hypertrophy, Hypospadias, Hemolytic-uremic ... OMIM:611209
Amyloidosis, Finnish Type
Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom... OMIM:105120
Duane-Radial Ray Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Crossed fused renal ectopia, Vesicoureteral r... OMIM:607323
Zellweger Syndrome
Hydronephrosis, Hepatomegaly, Multicystic kidney dysplasia, Hypospadias ORPHA:912
Chromosome 17Q12 Deletion Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad... OMIM:614527
Branchio-Oculo-Facial Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Renal agenesis ORPHA:1297
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis, Ectopic kidney OMIM:235510
Melnick-Needles Syndrome
Hydronephrosis, Vesicoureteral reflux ORPHA:2484
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Hydronephrosis, Ureteral triplication OMIM:104350
Ogden Syndrome
Hyperbilirubinemia, Cardiomegaly, Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarge... OMIM:300855
Smith-Magenis Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia, Hypercholesterolemia, Hypertriglyceridemia, ... ORPHA:819
Baller-Gerold Syndrome
Hydronephrosis, Abnormality of the ureter, Abnormal localization of kidney, Vesicoureteral reflux ORPHA:1225
Mckusick-Kaufman Syndrome
Multicystic kidney dysplasia, Glandular hypospadias, Renal hypoplasia/aplasia, Urethral stricture... ORPHA:2473
Feingold Syndrome Type 1
Nephritis, Horseshoe kidney, Renal insufficiency, Vesicoureteral reflux, Hydronephrosis, Abnormal... ORPHA:391641
3C Syndrome
Hydronephrosis, Hypoplasia of penis, Hypospadias ORPHA:7
Pfeiffer Syndrome Type 3
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux ORPHA:93260
ERI1-related disease
Hydronephrosis, Vesicoureteral reflux OMIM:608739
Micro Syndrome
Hydronephrosis, Abnormal localization of kidney, Hypoplasia of penis ORPHA:2510
Renal Agenesis
Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins... ORPHA:411709
Congenital Disorder Of Glycosylation, Type Iie
Splenomegaly, Elevated circulating creatine kinase concentration, Hydronephrosis, Neurogenic blad... OMIM:608779
Intellectual Disability, Buenos-Aires Type
Hydronephrosis ORPHA:3079
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Enlarged kidney OMIM:306955
Exstrophy-Epispadias Complex
Penoscrotal transposition, Renal hypoplasia, Bladder exstrophy, Horseshoe kidney, Abnormality of ... ORPHA:322
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Hydronephrosis OMIM:620327
Congenital Disorder Of Glycosylation, Type It
Hydronephrosis, Hepatomegaly, Cardiomegaly, Elevated circulating creatine kinase concentration OMIM:614921
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Enlarged kidney, Recurrent urinary tract infections OMIM:615873
Chondrodysplasia Punctata 2, X-Linked Dominant
Hydronephrosis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol OMIM:302960
Mckusick-Kaufman Syndrome
Hydronephrosis, Polycystic kidney dysplasia, Hydroureter, Vesicovaginal fistula OMIM:236700
Chromosome 2P16.1-P15 Deletion Syndrome
Hydronephrosis, Micropenis OMIM:612513
Peutz-Jeghers Syndrome
Enlarged polycystic ovaries, Abnormality of the ureter, Multiple renal cysts, Renal cell carcinoma ORPHA:2869
Carpenter Syndrome 1
Hydronephrosis, Hydroureter OMIM:201000
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Crossed fused renal ectopia, Vesicoureteral reflux, Hydro... OMIM:300707
Peroxisome Biogenesis Disorder 1A (Zellweger)
Aminoaciduria, Hydronephrosis, Hepatomegaly, Elevated circulating long chain fatty acid concentra... OMIM:214100
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Abnormality of the ureter, Renal hypoplasia/aplasia ORPHA:1770
Hoxha-Aliu Syndrome
Hydronephrosis, Vesicoureteral reflux OMIM:620662
Cloacal Exstrophy
Hydroureter, Ureterocele, Horseshoe kidney, Vesicoureteral reflux, Ureteropelvic junction obstruc... ORPHA:93929
Microcephaly 26, Primary, Autosomal Dominant
Hydronephrosis OMIM:619179
Congenital Myopathy 17
Hydronephrosis, Renal hypoplasia, Ureteropelvic junction obstruction OMIM:618975
Visceral Myopathy 1
Hydronephrosis, Vesicoureteral reflux, Urinary retention, Megacystis OMIM:155310
Khan-Khan-Katsanis Syndrome
Renal hypoplasia, Vesicoureteral reflux, Hydronephrosis, Renal cyst, Ureteral duplication OMIM:618460
Microphthalmia, Syndromic 9
Renal hypoplasia, Horseshoe kidney, Hydronephrosis, Pelvic kidney, Renal malrotation OMIM:601186
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Hypospadias OMIM:616449
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis ORPHA:457193
Al-Gazali Syndrome
Hydronephrosis OMIM:609465
Raine Syndrome
Hydronephrosis, Hypophosphatemia, Hydroureter OMIM:259775
15Q Overgrowth Syndrome
Ureterovesical stenosis, Horseshoe kidney, Nephroblastoma, Hydronephrosis, Abnormal renal morphology ORPHA:314585
Pallister-Hall Syndrome
Renal hypoplasia, Hydroureter, Distal urethral duplication, Hydronephrosis, Renal cyst, Micropeni... OMIM:146510
Encephalocraniocutaneous Lipomatosis
Hydronephrosis, Pelvic kidney OMIM:613001
Mosaic Trisomy 9
Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Hypoplasia of penis, Renal dysplasia ORPHA:99776
Occipital Horn Syndrome
Ureteral obstruction, Hydronephrosis, Bladder diverticulum, Decreased circulating ceruloplasmin c... OMIM:304150
Craniofacioskeletal Syndrome
Hydronephrosis, Hypospadias, Hypocalcemia OMIM:300712
Fryns Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Vesicoureteral reflux, Hypospadias ORPHA:2059
Cat Eye Syndrome
Horseshoe kidney, Hydronephrosis, Vesicoureteral reflux, Renal agenesis OMIM:115470
Takenouchi-Kosaki Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias OMIM:616737
Musculocontractural Ehlers-Danlos Syndrome
Horseshoe kidney, Hydronephrosis, Functional abnormality of the bladder, Nephrolithiasis ORPHA:2953
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Hydronephrosis, Micropenis, Pelvic kid... OMIM:258040
15q26 overgrowth syndrome
Duplication of renal pelvis, Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Hydronephro... DECIPHER:81
Tarp Syndrome
Horseshoe kidney, Hydronephrosis OMIM:311900
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter ORPHA:2995
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Hypocalcemia, Hydronephrosis, Micropenis, Hypospadias ORPHA:163979
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hydronephrosis ORPHA:1358
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Microphallus, Vesicoureteral reflux, Hydronephrosis, Renal cyst OMIM:618454
X-Linked Dominant Chondrodysplasia Punctata
Hydronephrosis ORPHA:35173
Genitopatellar Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:85201
Teebi-Shaltout Syndrome
Horseshoe kidney, Hydronephrosis, Ureteral stenosis OMIM:272950
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hydroureter, Renal agenesis, Ureterocele, Megacystis, Vesicoureteral reflux, Hydronephrosis, Blad... OMIM:604292
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Abnormal renal collecting system morphology, Hydroureter, Unilateral renal dysplasia, Urinary bla... ORPHA:280633
Intellectual Developmental Disorder, Autosomal Dominant 53
Hydronephrosis, Micropenis OMIM:617798
2P15P16.1 Microdeletion Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:261349
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Hydronephrosis, Vesicoureteral reflux OMIM:620663
Pelvis-Shoulder Dysplasia
Hydronephrosis ORPHA:2839
Koolen-De Vries Syndrome
Hydronephrosis, Vesicoureteral reflux, Recurrent urinary tract infections OMIM:610443
Mosaic Trisomy 8
Hydronephrosis, Vesicoureteral reflux ORPHA:96061
Hyperphosphatasia-Intellectual Disability Syndrome
Hydronephrosis ORPHA:247262
8P Inverted Duplication/Deletion Syndrome
Hydronephrosis, Abnormality of the urinary system, Micropenis ORPHA:96092
Osteopetrosis With Renal Tubular Acidosis
Distal renal tubular acidosis, Renal tubular acidosis, Hypocalcemia, Nephrolithiasis, Hydronephro... ORPHA:2785
Cockayne Syndrome Type 3
Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,... ORPHA:90324
Kabuki Syndrome
Abnormal localization of kidney, Crossed fused renal ectopia, Ureteropelvic junction obstruction,... ORPHA:2322
Cardiac-Urogenital Syndrome
Micropenis, Patent urachus, Penoscrotal hypospadias, Enlarged kidney OMIM:618280
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Hydronephrosis, Micropenis, Hypospadias, Renal agenesis OMIM:301040
Frontometaphyseal Dysplasia 1
Hydronephrosis, Hydroureter OMIM:305620
Stromme Syndrome
Hydronephrosis, Bilateral renal hypoplasia OMIM:243605
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney ORPHA:464311
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hydronephrosis, Hypoplasia of penis, Abnormality of the kidney, Recurrent urinary tract infections ORPHA:847
Granulomatosis With Polyangiitis
Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Hydronephrosis, E... ORPHA:900
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hydronephrosis, Unilateral renal agenesis, Elevated 8(9)-cholestenol, Elevated 8-dehydrocholesterol OMIM:308050
Alagille Syndrome
Hepatomegaly, Abnormality of the ureter, Nephrotic syndrome, Renal hypoplasia/aplasia ORPHA:52
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Right ventricular hypertrophy, Nephroblastoma, Splenomegaly, Hydrone... OMIM:312870
Gabriele-De Vries Syndrome
Hydronephrosis, Ureteropelvic junction obstruction OMIM:617557
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Renal dysplasia OMIM:300968
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Pyelonephritis, Hepat... OMIM:301068
1Q21.1 Microdeletion Syndrome
Hydronephrosis, Vesicoureteral reflux ORPHA:250989
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria ORPHA:101000
Basel-Vanagaite-Smirin-Yosef Syndrome
Hydronephrosis, Hypospadias, Male urethral meatus stenosis ORPHA:464738
Thakker-Donnai Syndrome
Hydronephrosis ORPHA:1780
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Hydronephrosis, Micropenis, Vesicoureteral reflux, Pelvic kidney OMIM:618653
Autosomal Recessive Spondylocostal Dysostosis
Abnormality of the ureter, Hypospadias ORPHA:2311
Focal Dermal Hypoplasia
Horseshoe kidney, Multicystic kidney dysplasia, Hydronephrosis, Renal hypoplasia/aplasia ORPHA:2092
Otopalatodigital Syndrome Type 2
Hydronephrosis, Ureteral obstruction, Hypospadias ORPHA:90652
Smith-Lemli-Opitz Syndrome
Hypoalbuminemia, Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hypocholesterolemia... OMIM:270400
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal bladder morphology, Hydronephrosis, Vesicoureteral reflux ORPHA:453499
Dyrk1A-Related Intellectual Disability Syndrome
Unilateral renal agenesis, Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Pelvic kidney ORPHA:464306
Vater/Vacterl Association
Renal agenesis, Vesicoureteral reflux, Ureteropelvic junction obstruction, Hydronephrosis, Ectopi... OMIM:192350
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Hydroureter, Renal agenesis, Ureterocele, Vesicoureteral reflux, Hydronephrosis, Bladder divertic... OMIM:129900
Cerebellar-Facial-Dental Syndrome
Hydronephrosis, Ureteropelvic junction obstruction ORPHA:444072
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Hydronephrosis ORPHA:254528
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Abnormality of the ureter, Abnormality of the bladder, Hypospadias, Ep... ORPHA:3339
Cardiofaciocutaneous Syndrome 1
Hydronephrosis, Splenomegaly OMIM:115150
Campomelic Dysplasia
Hydronephrosis ORPHA:140
White-Kernohan Syndrome
Horseshoe kidney, Hydronephrosis, Hydroureter OMIM:619426
Au-Kline Syndrome
Chronic kidney disease, Hydronephrosis, Vesicoureteral reflux, Dilatation of the renal pelvis OMIM:616580
Holoprosencephaly 3
Hydronephrosis OMIM:142945
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Hydronephrosis, Moderate albuminuria OMIM:619269
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Hydroureter, Splenomegaly, Nephroblastoma, Hydronephrosis, Hepatome... ORPHA:373
Eec Syndrome
Vesicoureteral reflux, Renal hypoplasia/aplasia, Hydronephrosis, Urethral atresia, Hypospadias ORPHA:1896
Erdheim-Chester Disease
Hydronephrosis, Dysuria, Renal insufficiency ORPHA:35687
Smith-Lemli-Opitz Syndrome
Abnormal localization of kidney, Multicystic kidney dysplasia, Ureteropelvic junction obstruction... ORPHA:818
Opitz Gbbb Syndrome
Abnormality of the urinary system, Vesicoureteral reflux, Hydronephrosis, Enlarged ovaries, Hypos... ORPHA:2745
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Hydronephrosis, Urethral atresia OMIM:271520
Congenital Alveolar Capillary Dysplasia
Hydronephrosis ORPHA:210122
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Hepatosplenomegaly, Splenomegaly, Hydronephrosis, Urachus fis... OMIM:612541
Liver Disease, Severe Congenital
Aminoaciduria, Recurrent urinary tract infections, Hyperechogenic kidneys, Increased circulating ... OMIM:619991
Distal Deletion 12Q
Congenital hypertrophy of left ventricle, Vesicoureteral reflux, Hydronephrosis, Ectopic kidney, ... ORPHA:96149
Proteus Syndrome
Long penis, Splenomegaly, Enlarged polycystic ovaries, Renal cyst, Enlarged kidney ORPHA:744
7Q11.23 Microduplication Syndrome
Hydronephrosis, Unilateral renal agenesis, Enuresis, Hypospadias ORPHA:96121
Dextrocardia
Abnormality of the ureter, Abnormal renal morphology ORPHA:1666
Schinzel-Giedion Midface Retraction Syndrome
Hydroureter, Ureteral stenosis, Hydronephrosis, Micropenis, Hypospadias OMIM:269150
Cardiofaciocutaneous Syndrome
Hydronephrosis ORPHA:1340
Intellectual Developmental Disorder, Autosomal Dominant 42
Hydronephrosis, Neurogenic bladder, Ureteropelvic junction obstruction OMIM:616973
Trisomy 18
Hydronephrosis, Abnormality of the upper urinary tract ORPHA:3380
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the ureter ORPHA:3253
Cousin Syndrome
Hydronephrosis OMIM:260660
Fryns Syndrome
Renal agenesis, Hydronephrosis, Renal cyst, Ureteral duplication, Hypospadias OMIM:229850
Tarp Syndrome
Horseshoe kidney, Hydronephrosis ORPHA:2886
Ellis Van Creveld Syndrome
Hydroureter, Abnormality of the ureter, Renal hypoplasia/aplasia, Abnormality of the kidney, Hypo... ORPHA:289
Trisomy 8P
Hydronephrosis, Nephrocalcinosis, Fetal pyelectasis, Micropenis ORPHA:264450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hydronephrosis, Multicystic kidney dysplasia, Micropenis, Elevated circulating creatine kinase co... OMIM:615287
Cardiac Valvular Dysplasia 1
Hydronephrosis, Hydroureter, Urethral diverticulum OMIM:212093
Frontometaphyseal Dysplasia
Hydronephrosis, Ureteral obstruction, Urethral stenosis ORPHA:1826
Dubowitz Syndrome
Hydronephrosis, Hypospadias ORPHA:235
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Hydronephrosis, Duplicated collecting system, Ureteropelvic junction obstruction, Hepatomegaly OMIM:280000
Cutis Laxa, Autosomal Recessive, Type Ic
Hydronephrosis, Multiple bladder diverticula, Right ventricular hypertrophy OMIM:613177
Knobloch Syndrome 1
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication OMIM:267750
Apert Syndrome
Hydronephrosis OMIM:101200
Robinow Syndrome, Autosomal Recessive 1
Nephrocalcinosis, Renal duplication, Nephrolithiasis, Hydronephrosis, Micropenis, Hypospadias OMIM:268310
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hydronephrosis, Unilateral renal agenesis, Hypospadias ORPHA:487796
Bardet-Biedl Syndrome
Chronic kidney disease, Horseshoe kidney, Vesicoureteral reflux, Hypertriglyceridemia, Hydronephr... ORPHA:110
Schinzel-Giedion Syndrome
Abnormality of the ureter, Nephroblastoma, Nephrolithiasis, Hydronephrosis, Renal cyst, Micropeni... ORPHA:798
Autosomal Recessive Robinow Syndrome
Hydronephrosis, Multicystic kidney dysplasia, Hypoplasia of penis ORPHA:1507
Orofaciodigital Syndrome Type 1
Proteinuria, Multicystic kidney dysplasia, Hydronephrosis, Renal insufficiency ORPHA:2750
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent urinary tract infections, Vesicoureteral reflux, Renal duplication, Fetal pyelectasis, ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal duplication, Fetal pyelectasis, ... ORPHA:363958
Melnick-Needles Syndrome
Hydronephrosis, Ureteral stenosis OMIM:309350
Nijmegen Breakage Syndrome
Hydronephrosis, Recurrent urinary tract infections OMIM:251260
Floating-Harbor Syndrome
Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic kidney disease,... ORPHA:2044
Monosomy 22Q13.3
Hydronephrosis, Recurrent pyelonephritis, Vesicoureteral reflux, Renal dysplasia ORPHA:48652
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Enuresis, Renal agenesis, Grade III vesicoureteral reflux, Ureteropelvic junction obstruction, Ur... OMIM:619522
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Hydronephrosis, Vesicoureteral reflux ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Hydronephrosis, Vesicoureteral reflux ORPHA:352665
Peutz-Jeghers Syndrome
Abnormality of the ureter, Bladder polyp OMIM:175200
Chime Syndrome
Hydronephrosis, Abnormality of the kidney ORPHA:3474
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Dilatation of the renal pelvis, Hydroureter, Dilatation of the bladder, Hydronephrosis, Hypospadi... OMIM:265380
3Mc Syndrome 1
Hydronephrosis OMIM:257920
Robinow Syndrome
Webbed penis, Multicystic kidney dysplasia, Hydronephrosis, Micropenis ORPHA:97360
Ileal Neuroendocrine Tumor
Hydronephrosis ORPHA:100078
Acrorenal-Mandibular Syndrome
Abnormality of the ureter, Polycystic kidney dysplasia, Renal agenesis, Aplasia of the bladder OMIM:200980
Jacobsen Syndrome
Hydronephrosis, Multicystic kidney dysplasia ORPHA:2308
Okamoto Syndrome
Unilateral renal hypoplasia, Ureteropelvic junction obstruction, Splenomegaly, Hydronephrosis, Ur... ORPHA:2729
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ... ORPHA:2636
Schwartz-Jampel Syndrome
Abnormality of the ureter, Elevated circulating creatine kinase concentration, Abnormality of the... ORPHA:800
Digeorge Syndrome
Unilateral renal agenesis, Renal insufficiency, Splenomegaly, Hypocalcemia, Hydronephrosis, Renal... OMIM:188400
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hypoalbuminemia, Dilatation of the renal pelvis, Hyperechogenic kidneys, Increased circulating fe... OMIM:619534
Sotos Syndrome
Renal agenesis, Hypercalcemia, Renal insufficiency, Vesicoureteral reflux, Ureteropelvic junction... ORPHA:821
Meckel Syndrome, Type 1
Elevated amniotic fluid alpha-fetoprotein, Hypoplasia of the bladder, Renal agenesis, Abnormality... OMIM:249000
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hydronephrosis, Decreased circulating iron concentration, Vesicoureteral reflux, Nephrolithiasis ORPHA:438213
Mesomelia-Synostoses Syndrome
Hydronephrosis OMIM:600383
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral reflux, Nep... ORPHA:353281
Arboleda-Tham Syndrome
Hydronephrosis, Recurrent urinary tract infections OMIM:616268
Tetrasomy 9P
Recurrent urinary tract infections, Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Micro... ORPHA:3310
1P36 Deletion Syndrome
Hydronephrosis, Renal cyst, Abnormality of the kidney, Hypoplasia of penis, Hypospadias ORPHA:1606
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Hydronephrosis, Nephrotic syndrome OMIM:601776
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Hydronephrosis, Hypocalcemia OMIM:620330
Peters Plus Syndrome
Multicystic kidney dysplasia, Renal duplication, Renal hypoplasia/aplasia, Hydronephrosis, Ureter... ORPHA:709
Coffin-Siris Syndrome 1
Renal hypoplasia, Hydroureter, Hydronephrosis, Ectopic kidney, Hypospadias OMIM:135900
Floating-Harbor Syndrome
Nephrocalcinosis, Glandular hypospadias, Hydronephrosis, Hypospadias, Congenital posterior urethr... OMIM:136140
Gabriele-De Vries Syndrome
Hydronephrosis, Ureteropelvic junction obstruction ORPHA:506358
Charge Syndrome
Hydronephrosis, Micropenis, Vesicoureteral reflux, Horseshoe kidney ORPHA:138
Campomelic Dysplasia
Hydronephrosis, Hypospadias OMIM:114290
Kabuki Syndrome 1
Hydronephrosis, Crossed fused renal ectopia, Ureteropelvic junction obstruction, Micropenis OMIM:147920
Lacrimoauriculodentodigital Syndrome
Hydronephrosis, Renal hypoplasia, Vesicoureteral reflux ORPHA:2363
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hydronephrosis, Hepatomegaly, Micropenis ORPHA:83617
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Hydronephrosis, Abnormality of the upper urinary tract, Hydroureter, Abnormality of the kidney ORPHA:2273
Focal Dermal Hypoplasia
Hydronephrosis, Ureteral duplication, Bifid ureter, Horseshoe kidney OMIM:305600
Wiedemann-Rautenstrauch Syndrome
Recurrent urinary tract infections, Wide penis, Vesicoureteral reflux, Hydronephrosis, Hypertrigl... ORPHA:3455
Rubinstein-Taybi Syndrome 1
Hydronephrosis, Hypospadias OMIM:180849
Charge Syndrome
Renal hypoplasia, Renal agenesis, Horseshoe kidney, Hypocalcemia, Hydronephrosis, Micropenis OMIM:214800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral reflux, Nep... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormality of the urinary system, Recurrent urinary tract infections, Vesicoureteral reflux, Nep... ORPHA:353277
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Renal hypoplasia, Hydronephrosis, Renal cyst, Hypoplasia of penis, Urethrovaginal fistula ORPHA:93271
Johanson-Blizzard Syndrome
Splenomegaly, Hypocalcemia, Increased VLDL cholesterol concentration, Hydronephrosis, Micropenis,... OMIM:243800
Robinow Syndrome, Autosomal Dominant 1
Hydronephrosis, Micropenis, Renal duplication OMIM:180700
Doors Syndrome
Hydronephrosis, Nephrocalcinosis, Abnormality of the urinary system, Increased urine alpha-ketogl... ORPHA:79500
Osteogenesis Imperfecta, Type Vii
Hydronephrosis OMIM:610682
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Hydronephrosis, Abnormal renal morphology, Renal hypoplasia/aplasia ORPHA:363700
Peters-Plus Syndrome
Hydronephrosis, Ureteral duplication, Renal hypoplasia, Hypospadias OMIM:261540
Hydrolethalus Syndrome 1
Hydronephrosis, Hypospadias OMIM:236680
Congenital Tracheal Stenosis