Gene: Lin7c MGI:1330839

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

lin-7 homolog C, crumbs cell polarity complex component

Synonyms:

9130007B12Rik, LIN-7C, D2Ertd520e, MALS-3, Lin7c, LIN-7-C, Veli3

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 Lin7c 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.

Human diseases associated with Lin7c (0 diseases)
Human diseases predicted to be associated with Lin7c (605 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lin7c by phenotypic similarity.

Disease	Matching phenotypes	Source
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f...	OMIM:613092
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease	OMIM:617610
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome...	OMIM:310468
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine...	OMIM:614196
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy	OMIM:242530
Hypercalcemia, Infantile, 2	Hypercalcemia, Nephrocalcinosis, Failure to thrive, Hypophosphatemia, Renal phosphate wasting, Me...	OMIM:616963
Danubian Endemic Familial Nephropathy	Nephropathy	OMIM:124100
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Renal hypoplasia, Tubulointerstitial nephritis, Renal cortical atrophy, De...	OMIM:174000
Well-Differentiated Liposarcoma	Abnormal renal physiology	ORPHA:99971
Hereditary Renal Hypouricemia	Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D...	ORPHA:94088
Interstitial Nephritis, Karyomegalic	Tubulointerstitial nephritis, Nephronophthisis, Hematuria, Elevated circulating creatinine concen...	OMIM:614817
Bardet-Biedl Syndrome 10	Renal insufficiency, Obesity, Renal cyst, Abnormality of the kidney	OMIM:615987
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Polyuria, Periglom...	OMIM:619468
Nephronophthisis 1	Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst...	OMIM:256100
Lcat Deficiency	Decreased HDL cholesterol concentration, Decreased glomerular filtration rate, Stage 5 chronic ki...	ORPHA:650
Oligomeganephronia	Bilateral renal hypoplasia, Renal tubular atrophy, Abnormal nephron morphology, Small for gestati...	ORPHA:2260
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese...	OMIM:601198
Renal Hypoplasia	Urethral valve, Hydronephrosis, Abnormality of the ureter, Small for gestational age, Pelvic kidn...	ORPHA:93101
Senior-Loken Syndrome 1	Nephronophthisis, Polyuria, Stage 5 chronic kidney disease	OMIM:266900
Renal Dysplasia, Cystic, Susceptibility To	Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins...	OMIM:601331
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f...	OMIM:602522
Nephronophthisis 4	Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst...	OMIM:606966
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Nephrocalcinosis, Failure to thrive, Hematuria, Decreased glomerular f...	ORPHA:93598
Autosomal Dominant Polycystic Kidney Disease	Pancreatic cysts, Decreased glomerular filtration rate, Hematuria, Pyelonephritis, Renal cyst, El...	ORPHA:730
Nephronophthisis 3	Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Renal corticomedullary cyst...	OMIM:604387
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Chronic kidney disease, Abnormal tubulointerstitial morphology, Nephropathy	OMIM:602114
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Senior-Loken Syndrome 4	Nephronophthisis, Polyuria, Stage 5 chronic kidney disease	OMIM:606996
Neurofaciodigitorenal Syndrome	Unilateral renal agenesis	OMIM:256690
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Hepatic cysts, Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney ...	OMIM:618061
Nephronophthisis 20	Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease	OMIM:617271
Bardet-Biedl Syndrome 16	Renal agenesis, Renal dysplasia, Renal cyst, Obesity, Renal insufficiency, Abnormality of the kidney	OMIM:615993
Fanconi Renotubular Syndrome 5	Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glycosuria, Aminoa...	OMIM:618913
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Failure to thrive, Weight loss, Nephrolithiasis, Infantile hypercalcemia, Hyper...	OMIM:143880
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hypokalemia, Increased urinary potassium, Failure to thrive, Decreased glomerular f...	OMIM:613090
Orthostatic Hypotension 2	Decreased glomerular filtration rate	OMIM:618182
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia	OMIM:614844
Nephronophthisis 16	Nephronophthisis, Patent ductus arteriosus, Polycystic kidney dysplasia, Renal insufficiency, Enl...	OMIM:615382
Hereditary Amyloidosis With Primary Renal Involvement	Renal tubular atrophy, Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nep...	ORPHA:85450
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Hepatic cysts, Stage 5 chronic kidney disease, Rec...	OMIM:613095
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Unilateral renal agenesis	OMIM:235740
Focal Segmental Glomerulosclerosis 7	Renal hypoplasia, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616002
Bardet-Biedl Syndrome 6	Hypospadias, Obesity, Renal cyst	OMIM:605231
Lipoprotein Glomerulopathy	Glomerulopathy, Proteinuria, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Interstitial Pneumonitis, Desquamative, Familial	Failure to thrive, Tubulointerstitial fibrosis	OMIM:263000
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Unilateral renal agenesis	ORPHA:2512
Hypomagnesemia 3, Renal	Nephrocalcinosis, Failure to thrive, Renal tubular acidosis, Hematuria, Renal calcium wasting, Ne...	OMIM:248250
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Renal Hypodysplasia/Aplasia 3	Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Multicystic kidney dysplasia, ...	OMIM:617805
Renal Glucosuria	Polyuria, Enuresis nocturna, Glycosuria	OMIM:233100
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Failure to thrive, Chronic kidney disease, Hyperuricemia, Hypomagnesemia, Proteinur...	OMIM:613845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut...	OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Acut...	OMIM:612926
Dent Disease	Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph...	ORPHA:1652
Hyperuricemic Nephropathy, Familial Juvenile, 3	Renal insufficiency, Nephropathy	OMIM:614227
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia, Renal cortical adenoma, Nephrolithiasis, Polycystic kidney dysplasia, Papillary re...	OMIM:145001
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia	OMIM:614859
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Patent ductus arteriosus, Ureteral atresia, Bilateral renal agenesis, Unilateral renal agenesis	OMIM:618845
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Renal cyst, Polycystic kidney dyspl...	OMIM:263200
Type 1 Diabetes Mellitus	Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Diabetes Insipidus, Neurohypophyseal, X-Linked	Hydronephrosis, Polyuria, Hypokalemia	OMIM:304900
Hypomagnesemia, Seizures, And Mental Retardation 2	Hypokalemia, Hypomagnesemia, Renal potassium wasting, Polyuria, Renal magnesium wasting	OMIM:618314
Hyperphosphatemia, Polyuria, And Seizures	Polyuria, Hyperphosphatemia	OMIM:239350
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin...	OMIM:300971
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Hyperprolinemia Type 1	Prolinuria, Hyperprolinemia, Proteinuria, Nephropathy	ORPHA:419
Distal Renal Tubular Acidosis	Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Failure to thrive, Proximal tubu...	ORPHA:18
Alport Syndrome	Renal tubular atrophy, Glomerular basement membrane lamellation, Focal segmental glomeruloscleros...	ORPHA:63
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia, Renal insufficiency	OMIM:173900
Pauci-Immune Glomerulonephritis	Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat...	ORPHA:93126
Congenital Anomalies Of Kidney And Urinary Tract 2	Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Rena...	OMIM:143400
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Failure to thrive in infancy, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomeru...	ORPHA:488627
Senior-Loken Syndrome 3	Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney disease, Enuresis, Polyuria	OMIM:606995
Congenital Megacalycosis	Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol...	ORPHA:93109
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux	OMIM:618270
Nephrotic Syndrome, Type 10	Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon...	OMIM:615861
Radial-Renal Syndrome	Ectopic kidney, Unilateral renal agenesis	OMIM:179280
Cryptorchidism, Unilateral Or Bilateral	Renal agenesis	OMIM:219050
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Hyperlipidemia, Decreased glomerular filtration rate, Nephrol...	OMIM:232200
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis	OMIM:601355
Nephronophthisis 11	Renal tubular atrophy, Nephronophthisis, Renal corticomedullary cysts, Stage 5 chronic kidney dis...	OMIM:613550
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:616032
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:301028
Glomerulopathy With Fibronectin Deposits 1	Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinuria, Nephropat...	OMIM:137950
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Megacystis, Polyuria, Hypernatremia	OMIM:125800
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Megacystis, Polyuria, Hypernatremia	OMIM:304800
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Glomerulonephritis, Renal insufficiency, Nephrotic syndrome, Glomerular deposits	ORPHA:69063
Focal Segmental Glomerulosclerosis 6	Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb...	OMIM:614131
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Hyperlipidemia, Decreased glomerular filtration rate, Nephrol...	OMIM:232220
Renal Tubular Dysgenesis	Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts, Nephropathy	ORPHA:3033
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:614199
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Foamy urine, Minimal change glomerulonephritis, Abnormal circ...	ORPHA:567548
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Nephropathy	ORPHA:1909
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney disease, Microsc...	OMIM:161900
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Chronic k...	OMIM:603965
Adenine Phosphoribosyltransferase Deficiency	Macroscopic hematuria, Urinary hesitancy, Urinary retention, Dysuria, Nephrolithiasis, Stage 5 ch...	ORPHA:976
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Renal agenesis, Unilateral renal agenesis	OMIM:601076
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
Medullary cystic kidney disease 2	Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Renal ...	OMIM:603860
Nephrotic Syndrome, Type 18	Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 ch...	OMIM:618177
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrocalcinosis, Proximal tubulopathy...	OMIM:308990
Nephrotic Syndrome, Type 23	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Podocyte foot process effa...	OMIM:619201
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Renal cyst, Hyperuricemia, Nephropathy, Chronic kidney disease	OMIM:617056
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum...	OMIM:615573
Nephrotic Syndrome, Type 19	Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,...	OMIM:618178
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies	Renal cyst	OMIM:138790
Glycogen Storage Disease Iv	Failure to thrive, Tubulointerstitial fibrosis	OMIM:232500
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Abnormal renal tubule morphology, Hyperuricemia	OMIM:609886
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:244200
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Hyperlipidemia, Nephrotic syndrome, Stage 5 chronic kidney di...	OMIM:600995
Nephrotic Syndrome, Type 15	Minimal change glomerulonephritis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbumi...	OMIM:617609
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy	OMIM:182690
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Nephrotic syndrome	OMIM:616220
Multiple Acyl-Coa Dehydrogenase Deficiency	Ethylmalonic aciduria, Renal cortical cysts, Generalized aminoaciduria, Proximal tubulopathy, Glu...	OMIM:231680
Renal Cysts And Diabetes Syndrome	Hypospadias, Renal hypoplasia, Elevated circulating creatinine concentration, Renal cyst, Nephrol...	OMIM:137920
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:618176
Nephronophthisis 7	Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:611498
Carnitine Palmitoyltransferase Ii Deficiency	Cystic renal dysplasia, Decreased plasma free carnitine, Tubulointerstitial nephritis, Myoglobinu...	ORPHA:157
Cystinuria	Ornithinuria, Nephrolithiasis, Cystinuria, Recurrent urinary tract infections, Argininuria, Hyper...	OMIM:220100
Nephrotic Syndrome, Type 7	Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur...	OMIM:615008
Lysinuric Protein Intolerance	Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Hyperglycinem...	ORPHA:470
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Hyperlipidemia, Hematuria, Decreased glomerular filtration ra...	OMIM:232240
Bardet-Biedl Syndrome 17	Renal cyst, Stage 5 chronic kidney disease, Micropenis, Obesity, Polyuria	OMIM:615994
Nephrotic Syndrome, Type 13	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:616893
Primary Membranoproliferative Glomerulonephritis	Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Acute kidney injury, Mic...	ORPHA:54370
Renal Agenesis	Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral renal agenesis, Ureteral agenesis, U...	ORPHA:411709
Nail-Patella-Like Renal Disease	Glomerulopathy, Microscopic hematuria, Proteinuria, Renal insufficiency	ORPHA:2613
Bartter Syndrome, Type 3	Renal salt wasting, Hypokalemia, Increased urinary potassium, Hypocalciuria, Renal potassium wast...	OMIM:607364
Bardet-Biedl Syndrome 4	Obesity, Renal cyst, Abnormality of the kidney	OMIM:615982
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Impaired renal concentrating ability, Enuresis, Polyuria, Renal insufficiency	OMIM:204690
Nephrotic Syndrome, Type 16	Hematuria, Proteinuria, Nephrotic syndrome	OMIM:617783
Urofacial Syndrome 2	Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure...	OMIM:615112
Glomerulopathy With Fibronectin Deposits 2	Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscopic hematuria, ...	OMIM:601894
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cystic renal dysplasia, Decreased plasma free carnitine, Tubulointerstitial nephritis, Myoglobinu...	ORPHA:228308
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst, Increased total bilirubin	OMIM:174050
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Braddock Syndrome	Failure to thrive, Unilateral renal agenesis	ORPHA:52047
Holzgreve Syndrome	Renal hypoplasia, Renal agenesis	OMIM:236110
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Micropenis, Patent ductus arteriosus, Unilateral renal agenesis	OMIM:618142
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Decreased urine output, Tubulointerstitial nephritis, Anuria, Decreased glomerular ...	ORPHA:340
Campomelia, Cumming Type	Polycystic kidney dysplasia, Pancreatic cysts	OMIM:211890
Hyperparathyroidism, Neonatal Severe	Hypercalcemia, Hyperphosphaturia, Calcinosis, Aminoaciduria, Failure to thrive, Hypophosphatemia,...	OMIM:239200
Vesicoureteral Reflux 2	Renal hypoplasia, Vesicoureteral reflux	OMIM:610878
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal tubular atrophy, Nephritis, Hyperuricemia, Nephropathy, Renal insufficiency	OMIM:162000
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst	OMIM:614870
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency	OMIM:607832
Hyperaldosteronism, Familial, Type Iii	Decreased circulating renin level, Polyuria, Hypokalemia, Hypercalciuria	OMIM:613677
Paternal Uniparental Disomy Of Chromosome 1	Macroscopic hematuria, Hypercalcemia, Increased blood urea nitrogen, Membranoproliferative glomer...	ORPHA:251004
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Teratoma, Pineal	Polyuria	OMIM:273120
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Proximal tubulopathy, Polyuria	OMIM:560000
Congenital Disorder Of Glycosylation, Type Il	Failure to thrive, Polycystic kidney dysplasia	OMIM:608776
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency	Patent ductus arteriosus, Unilateral renal agenesis	OMIM:608406
Helix Syndrome	Hypokalemia, Nephrolithiasis, Hypocalciuria, Hypermagnesemia, Polyuria, Renal insufficiency	OMIM:617671
C3 Glomerulopathy 3	Hematuria, Renal insufficiency, Stage 5 chronic kidney disease, Glomerulonephritis	OMIM:614809
Bladder Exstrophy And Epispadias Complex	Horseshoe kidney, Unilateral renal agenesis, Bladder exstrophy, Hydroureter, Epispadias	OMIM:600057
Igg4-Related Retroperitoneal Fibrosis	Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Membranous nephropathy, Hematuria,...	ORPHA:49041
Thrombotic Thrombocytopenic Purpura, Hereditary	Abnormal renal physiology, Elevated circulating creatinine concentration, Hemolytic-uremic syndro...	OMIM:274150
Bartter Syndrome, Type 1, Antenatal	Hypercalcemia, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypokalemia, Nephrocalcinosis,...	OMIM:601678
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Nephrotic syndrome, Membranoproliferative glomerulonephritis	OMIM:613779
Nephronophthisis 9	Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease	OMIM:613824
Ehlers-Danlos Syndrome, Classic-Like	Vesicoureteral reflux, Unilateral renal agenesis	OMIM:606408
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies	Renal cortical hyperechogenicity, Renal hypoplasia, Medullary nephrocalcinosis, Reduced renal cor...	OMIM:611555
Congenital Disorder Of Glycosylation, Type Iil	Elevated circulating creatine kinase concentration, Proximal tubulopathy, Failure to thrive, Pate...	OMIM:614576
Alkaptonuria	Decreased glomerular filtration rate, Elevated urinary homogentisic acid, Nephrolithiasis	OMIM:203500
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance	Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal potas...	OMIM:612780
Coloboma Of Macula-Brachydactyly Type B Syndrome	Renal agenesis	ORPHA:1471
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Hematuria, Elevated circulating C-reactive pr...	ORPHA:231111
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis	OMIM:619504
Uremic Pruritus	Hypercalcemia, Stage 5 chronic kidney disease, Increased blood urea nitrogen, Renal hypophosphate...	ORPHA:94059
Arima Syndrome	Renal tubular atrophy, Occipital meningocele, Nephronophthisis, Tubulointerstitial fibrosis, Rena...	OMIM:243910
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Polycystic kidney dysplasia, Abnormal localization of kidney, Long penis	ORPHA:1988
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hyperlipidemia, Anuria, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome,...	OMIM:235400
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoalbum...	OMIM:610725
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hyperhomocystinemia, Methylmalonic aciduria, Failure to thrive, Unilateral renal agenesis, Elevat...	ORPHA:79284
Idiopathic Non-Lupus Full-House Nephropathy	Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating creatinine con...	ORPHA:567544
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Decreased plasma free carnitine, Hydronephrosis, Elevated circulating long ...	OMIM:608836
Kallmann Syndrome With Spastic Paraplegia	Micropenis, Eunuchoid habitus, Unilateral renal agenesis	OMIM:308750
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Diffuse mesangial scleros...	OMIM:256370
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis	OMIM:616603
Coach Syndrome 1	Nephronophthisis, Multiple small medullary renal cysts, Renal cyst, Stage 5 chronic kidney diseas...	OMIM:216360
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Hematuria, Renal cyst, Nephropathy	OMIM:611773
Galloway-Mowat Syndrome 8	Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Hematuria, Hypoalb...	OMIM:618349
Nephrotic Syndrome, Type 21	Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro...	OMIM:618594
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency	OMIM:618681
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Horseshoe kidney, Renal hypoplasia, Renal agenesis, Renal dysplasia, Bifid ureter, Decreased numb...	OMIM:617641
Fibronectin Glomerulopathy	Abnormal glomerular mesangium morphology, Nephrotic syndrome, Microscopic hematuria, Hypoalbumine...	ORPHA:84090
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Fanconi Anemia, Complementation Group O	Hydronephrosis, Renal cyst, Stage 5 chronic kidney disease	OMIM:613390
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Nephrolithiasis	OMIM:614723
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis	OMIM:118100
Mayer-Rokitansky-Küster-Hauser Syndrome	Horseshoe kidney, Ectopic kidney, Abnormality of the kidney, Unilateral renal agenesis	ORPHA:3109
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hydronephrosis, Hypocalcemic seizures, Renal dysplasia, Unilateral renal agenesis, Polycystic kid...	ORPHA:2237
Williams-Beuren Region Duplication Syndrome	Hydronephrosis, Patent ductus arteriosus, Unilateral renal agenesis	OMIM:609757
Multiple Acyl-Coa Dehydrogenase Deficiency	Ethylmalonic aciduria, Lacticaciduria, Elevated circulating creatine kinase concentration, Glutar...	ORPHA:26791
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital	Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Decreased glomerul...	OMIM:614748
Nephrotic Syndrome, Type 8	Nephrotic syndrome, Thin glomerular basement membrane, Hypoalbuminemia, Chronic kidney disease, D...	OMIM:615244
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cystic renal dysplasia, Ectopic kidney, Abnormality of the kidney	OMIM:613730
Congenital Absence Of Upper Arm And Forearm With Hand Present	Renal agenesis, Small for gestational age	ORPHA:294975
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, ...	OMIM:220150
Gitelman Syndrome	Hypokalemia, Failure to thrive, Hypomagnesemia, Hypocalciuria, Renal potassium wasting, Enuresis,...	OMIM:263800
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricosuria, Hyperuricemia, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias...	ORPHA:411536
Nephrotic Syndrome, Type 22	Hypoproteinemia, Nephrotic syndrome, Podocyte foot process effacement, Glomerular sclerosis, Stag...	OMIM:619155
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis	ORPHA:3306
Nephronophthisis 12	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:613820
Isolated Polycystic Liver Disease	Multiple renal cysts, Increased total bilirubin	ORPHA:2924
Tubulointerstitial Nephritis And Uveitis Syndrome	Renal lymphocytic tubulitis, Renal Fanconi syndrome, Tubulointerstitial nephritis, Aminoaciduria,...	ORPHA:91500
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Renal agenesis, Ureteral dysgenesis	OMIM:274265
Renal Dysplasia	Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin...	ORPHA:93108
Alagille Syndrome 2	Renal hypoplasia, Renal tubular acidosis, Hematuria, Renal cyst, Proteinuria, Renal insufficiency	OMIM:610205
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome	OMIM:614650
Peroxisome Biogenesis Disorder 2A (Zellweger)	Failure to thrive, Polycystic kidney dysplasia, Aminoaciduria, Elevated circulating long chain fa...	OMIM:214110
Bartter Syndrome, Type 2, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypokalemia, Nephrocalcinosis, Increased urin...	OMIM:241200
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis, Nephrotic syndrome	OMIM:617006
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Hematuria, Stage 5 chronic kidney disease, Steroid-resistant ...	OMIM:616892
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Abnormal renal tubule morphology, Nephrot...	ORPHA:839
Polycystic Kidney, Cataract, And Congenital Blindness	Polycystic kidney dysplasia	OMIM:263100
Branchiootorenal Syndrome 1	Renal agenesis, Renal malrotation, Renal dysplasia, Polycystic kidney dysplasia, Abnormal renal c...	OMIM:113650
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Micropenis, Eunuchoid habitus, Unilateral renal agenesis	OMIM:308700
Renal Coloboma Syndrome	Renal hypoplasia, Renal dysplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal ins...	ORPHA:1475
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Macroscopic hematuria, Elevated circulating creatinine concentration, Dysuria, Hyperuricemia, Acu...	ORPHA:79233
Renal-Hepatic-Pancreatic Dysplasia 1	Pancreatic cysts, Renal dysplasia, Hepatic cysts, Patent ductus arteriosus, Polycystic kidney dys...	OMIM:208540
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis	OMIM:158330
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Hypospadias, Horseshoe kidney, Patent ductus arteriosus, Recurrent urinary tract infections, Micr...	ORPHA:363444
Nphp3-Related Meckel-Like Syndrome	Renal dysplasia, Multicystic kidney dysplasia	ORPHA:3032
Say Syndrome	Cystic renal dysplasia, Proximal renal tubular acidosis	OMIM:181180
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Primary Hyperoxaluria Type 3	Calcium oxalate nephrolithiasis, Abnormality of urine homeostasis, Nephrocalcinosis, Hematuria, H...	ORPHA:93600
Rhyns Syndrome	Nephronophthisis, Multicystic kidney dysplasia	ORPHA:140976
Alport Syndrome 3, Autosomal Dominant	Glomerular basement membrane lamellation, Nephrotic syndrome, Nephrocalcinosis, Glomerulonephriti...	OMIM:104200
Joubert Syndrome 16	Nephronophthisis, Renal cyst	OMIM:614465
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome	OMIM:249660
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis	ORPHA:1064
Nephronophthisis 13	Renal hypoplasia, Pancreatic cysts, Nephronophthisis, Hepatic cysts, Stage 5 chronic kidney disea...	OMIM:614377
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Hyperuricemia, Vesicoureteral reflux, Chronic kidney disease, Obesity, Proteinuri...	ORPHA:261222
Odontochondrodysplasia 1	Nephronophthisis, Polycystic kidney dysplasia	OMIM:184260
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Renal dysplasia, Hypocalcemia, Hypomagnesemia, Hypertriglyceridemia, Hypoalbuminemi...	OMIM:618183
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Renal hypoplasia, Patent ductus arteriosus	OMIM:617661
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities	Renal hypoplasia, Renal cyst	OMIM:228940
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy	Small for gestational age, Unilateral renal agenesis	OMIM:618419
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia	OMIM:263210
Distal Tetrasomy 15Q	Horseshoe kidney, Hydronephrosis, Patent ductus arteriosus, Large for gestational age, Polycystic...	ORPHA:314588
Coloboma Of Macula With Type B Brachydactyly	Renal agenesis	OMIM:120400
Coach Syndrome 3	Renal tubular atrophy, Renal interstitial inflammation, Renal interstitial fibrosis, Nephronophth...	OMIM:619113
Familial Renal Glucosuria	Recurrent urinary tract infections, Renal tubular dysfunction, Glycosuria, Nephropathy	ORPHA:69076
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Renal hypoplasia, Polycystic kidney dysplasia, Renal cyst	OMIM:614091
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hyperlipidemia, Nephrocalcinosis, Failure to thrive, Tubulointerstitial fibrosis, Polycystic ovar...	ORPHA:79259
Glycogen Storage Disease Xi	Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena...	OMIM:612933
Thymic Aplasia With Fetal Death	Ureteral agenesis, Renal agenesis	OMIM:274210
Peroxisome Biogenesis Disorder 11A (Zellweger)	Failure to thrive, Renal cyst, Multiple renal cysts	OMIM:614883
Trisomy X	Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3375
Axial Osteomalacia	Elevated circulating creatine kinase concentration, Renal cyst	OMIM:109130
Joubert Syndrome 39	Polycystic kidney dysplasia, Overweight	OMIM:619562
Dent Disease 2	Nephrocalcinosis, Elevated circulating creatine kinase concentration, Proximal tubulopathy, Hypop...	OMIM:300555
Meier-Gorlin Syndrome 8	Renal hypoplasia, Decreased body weight	OMIM:617564
Leigh Syndrome With Nephrotic Syndrome	Tubulointerstitial nephritis, Heavy proteinuria, Nephrotic syndrome, Renal tubular acidosis, Rena...	ORPHA:255249
Short Stature, Microcephaly, And Endocrine Dysfunction	Renal hypoplasia, Abnormal circulating lipid concentration, Truncal obesity, Micropenis, Unilater...	OMIM:616541
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Abnormal renal physiology, Elevated circulating creatinine concentration, Glomerular sclerosis, I...	OMIM:223900
Glycogen Storage Disease X	Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency	OMIM:261670
Nephronophthisis 2	Hyperkalemia, Chronic tubulointerstitial nephritis, Nephronophthisis, Elevated circulating creati...	OMIM:602088
Papillorenal Syndrome	Horseshoe kidney, Renal hypoplasia, Renal malrotation, Renal cyst, Nephrolithiasis, Stage 5 chron...	OMIM:120330
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Hyperuricemia	ORPHA:510
Nephrotic Syndrome, Type 1	Renal tubular atrophy, Hypoproteinemia, Hyperlipidemia, Small for gestational age, Congenital nep...	OMIM:256300
Joubert Syndrome 20	Renal cyst	OMIM:614970
Joubert Syndrome 35	Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis	OMIM:618161
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Dark urine, Acute ...	ORPHA:99845
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Nephrotic syndrome	ORPHA:69061
Hinman Syndrome	Hydronephrosis, Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Renal insuff...	ORPHA:84085
Cryoglobulinemia, Familial Mixed	Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn...	OMIM:123550
Trisomy 17P	Urethral valve, Hydronephrosis, Urethral stenosis, Patent ductus arteriosus, Polycystic kidney dy...	ORPHA:261290
Verheij Syndrome	Renal hypoplasia, Renal agenesis, Renal cyst	OMIM:615583
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Renal dysplasia, Multicystic kidney dysplasia, Unilateral renal agenesis	OMIM:308205
Emanuel Syndrome	Renal hypoplasia, Failure to thrive, Patent ductus arteriosus, Micropenis, Unilateral renal agenesis	ORPHA:96170
Xanthinuria, Type Ii	Hypouricemia, Renal insufficiency, Nephrolithiasis	OMIM:603592
Microgastria-Limb Reduction Defects Association	Cystic renal dysplasia, Horseshoe kidney, Failure to thrive, Pelvic kidney, Unilateral renal agen...	OMIM:156810
Cystinosis, Nephropathic	Hyponatremia, Renal Fanconi syndrome, Generalized aminoaciduria, Failure to thrive in infancy, Ne...	OMIM:219800
Acrorenal Syndrome, Autosomal Recessive	Decreased numbers of nephrons, Renal hypoplasia, Renal insufficiency	OMIM:201310
Nager Syndrome	Unilateral renal agenesis	ORPHA:245
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria	OMIM:245900
Schizophrenia 1	Partially duplicated kidney, Ectopic kidney, Renal agenesis	OMIM:181510
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis	OMIM:619227
Chromosome 17Q12 Deletion Syndrome	Renal hypoplasia, Hydronephrosis, Urethral stenosis, Renal cyst, Stage 5 chronic kidney disease, ...	OMIM:614527
Hereditary Xanthinuria	Hypouricemia, Hydronephrosis, Hyperxanthinemia, Decreased urinary urate, Increased urinary hypoxa...	ORPHA:3467
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Renal dysplasia, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease, Nephropathy	OMIM:266920
Renal Tubular Dysgenesis	Abnormality of the urinary system, Renotubular dysgenesis, Anuria	OMIM:267430
Meckel Syndrome, Type 10	Hypospadias, Micropenis, Renal cyst	OMIM:614175
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Renal hypoplasia/aplasia, Multiple renal cysts, Vesicoureteral reflux	ORPHA:1166
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Hyperuricemia, Hprt-Related	Hyperuricosuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia	OMIM:300323
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Unilateral renal agenesis	OMIM:608980
Birt-Hogg-Dube Syndrome	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Myoglobinuria, Tubulointerstitial nephritis, Elevated circulating long chain fatty acid concentra...	ORPHA:228302
Denys-Drash Syndrome	Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome	ORPHA:220
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Renal tubular acidosis, Renal dysplasia, Renal cyst, Renal insufficiency	OMIM:614922
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Increased renal tubular phosphate reabsorption, Calcinosis, Nephrocalcinosis, Decreased renal tub...	OMIM:211900
Hyperoxaluria, Primary, Type Ii	Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hyperoxaluria, Hematuria, Aminoaciduria, Renal...	OMIM:260000
Cenani-Lenz Syndactyly Syndrome	Renal hypoplasia, Renal agenesis	OMIM:212780
Prune Belly Syndrome	Abnormality of the ureter, Congenital posterior urethral valve, Failure to thrive, Patent ductus ...	ORPHA:2970
Primary Hyperoxaluria Type 2	Ureteral obstruction, Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Recurrent urinary tract i...	ORPHA:93599
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Hypercalcemia, Proteinuria, Renal insufficiency	ORPHA:2668
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal dysplasia, Renal cyst, Renal hypoplasia, Ureteral agenesis	OMIM:236500
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal dysplasia, Ectopic kidney, Renal agenesis	ORPHA:2578
Microcephaly 17, Primary, Autosomal Recessive	Failure to thrive, Renal agenesis	OMIM:617090
Cystinuria	Hematuria, Renal insufficiency, Nephrolithiasis, Hyperuricemia	ORPHA:214
Fanconi Renotubular Syndrome 2	Generalized aminoaciduria, Proximal tubulopathy, Hypophosphatemia, Glycosuria, Hypercalciuria, Re...	OMIM:613388
Phelan-Mcdermid Syndrome	Polycystic kidney dysplasia, Abnormality of the kidney, Patent ductus arteriosus, Vesicoureteral ...	OMIM:606232
Frasier Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:136680
Mody	Renal cyst, Glycosuria, Large for gestational age, Elevated hemoglobin A1c, Nephropathy, Overweig...	ORPHA:552
Dopamine Beta-Hydroxylase Deficiency	Nocturia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevated ...	ORPHA:230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Elevated circulating creatine kinase concentration, Renal dysplasia, Renal cyst, ...	OMIM:615287
Caroli Disease	Weight loss, Polycystic kidney dysplasia, Conjugated hyperbilirubinemia	ORPHA:53035
Systemic Capillary Leak Syndrome	Renal insufficiency, Weight loss, Oliguria, Abnormal renal tubule morphology	ORPHA:188
Diaphanospondylodysostosis	Multiple renal cysts, Myelomeningocele	ORPHA:66637
Attrv30M Amyloidosis	Abnormal renal physiology, Weight loss, Nephropathy	ORPHA:85447
Gapo Syndrome	Tubulointerstitial fibrosis	OMIM:230740
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Small for gestational age, Unilateral renal agenesis	OMIM:101800
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Hydronephrosis, Small for gestational age, Failure to thrive, Pelvic kidney, Renal c...	ORPHA:464311
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Hypouricemia, Nephrocalcinosis, Glycosuria, Large for gestational age, Aminoac...	OMIM:616026
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia, Failure to thrive, Hematuria, Weight loss, Nephrolithiasis, Renal i...	ORPHA:35710
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Pancreatic cysts, Stage 5 chronic kidney disease, Recurrent urinary tract infection...	ORPHA:731
15q26 overgrowth syndrome	Horseshoe kidney, Hydronephrosis, Renal agenesis, Duplication of renal pelvis, Polycystic kidney ...	DECIPHER:81
Takenouchi-Kosaki Syndrome	Hypospadias, Hydronephrosis, Patent ductus arteriosus, Unilateral renal agenesis	OMIM:616737
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia, Hyperuricosuria, Acute kidney injury, Uric acid nephrolithiasis, Crystalluria, Ren...	ORPHA:411543
Bor Syndrome	Hydronephrosis, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ureteropelvic junction ob...	ORPHA:107
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent i...	OMIM:600740
Paroxysmal Nocturnal Hemoglobinuria	Renal Fanconi syndrome, Reduced haptoglobin level, Hemoglobinuria, Unconjugated hyperbilirubinemi...	ORPHA:447
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney	OMIM:613091
Joubert Syndrome 7	Nephronophthisis, Renal cyst	OMIM:611560
Spondyloenchondrodysplasia With Immune Dysregulation	Tubulointerstitial fibrosis	OMIM:607944
Cockayne Syndrome Type 1	Failure to thrive, Proteinuria, Renal insufficiency, Increased blood urea nitrogen	ORPHA:90321
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Polycystic kidney dysplasia, Renal cyst, Pancreatic cysts	OMIM:610199
Fanconi Renotubular Syndrome 1	Renal tubular dysfunction, Hypokalemia, Lacticaciduria, Hypophosphatemia, Glycosuria, Aminoacidur...	OMIM:134600
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Hydronephrosis, Small for gestational age, Failure to thrive, Pelvic kidney, Renal c...	ORPHA:464306
Familial Isolated Hyperparathyroidism	Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Infantile hypercalcemia, Hy...	ORPHA:99879
Goodpasture Syndrome	Macroscopic hematuria, Weight loss, Cylindruria, Increased blood urea nitrogen, Erythrocyte cylin...	OMIM:233450
Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricosuria, Renal insufficiency, Uric acid nephrolithiasis, Hyperuricemia	OMIM:300661
Simpson-Golabi-Behmel Syndrome, Type 2	Multicystic kidney dysplasia, Micropenis, Obesity	OMIM:300209
Leiomyomatosis, Diffuse, With Alport Syndrome	Glomerular basement membrane lamellation, Failure to thrive, Abnormal renal physiology, Hematuria...	OMIM:308940
Orofaciodigital Syndrome I	Pancreatic cysts, Myelomeningocele, Hepatic cysts, Polycystic kidney dysplasia, Proteinuria, Ovar...	OMIM:311200
Syndromic Diarrhea	Renal hypoplasia, Abnormality of iron homeostasis, Small for gestational age, Patent ductus arter...	ORPHA:84064
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Congenital Bile Acid Synthesis Defect Type 2	Abnormal serum bile acid concentration, Failure to thrive, Renal cyst, Hyperbilirubinemia, Dark u...	ORPHA:79303
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Nephronophthisis-Like Nephropathy 1	Renal tubular atrophy, Pancreatic cysts, Nephronophthisis, Renal corticomedullary cysts, Stage 5 ...	OMIM:613159
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Chronic tubulointerstitial nephritis, Elevated circulating creatinine concentra...	OMIM:614376
Bardet-Biedl Syndrome 3	Renal hypoplasia, Obesity	OMIM:600151
Alport Syndrome 2, Autosomal Recessive	Glomerular basement membrane lamellation, Nephrotic syndrome, Hematuria, Nephritis, Stage 5 chron...	OMIM:203780
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydronephrosis, Hydroureter, Polycystic kidney dysplasia	OMIM:236700
Short Rib-Polydactyly Syndrome	Hypospadias, Nephronophthisis, Hepatic cysts, Urogenital sinus anomaly, Polycystic kidney dysplas...	ORPHA:1505
Tuberous Sclerosis Complex	Renal cell carcinoma, Hepatic cysts, Renal cyst, Stage 5 chronic kidney disease, Polycystic kidne...	ORPHA:805
Distal Monosomy 12Q	Hydronephrosis, Failure to thrive in infancy, Obesity, Patent ductus arteriosus, Micropenis, Poly...	ORPHA:96149
Bardet-Biedl Syndrome	Multicystic kidney dysplasia, Hypoplasia of penis, Obesity, Nephrotic syndrome	ORPHA:110
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Decreased urine output, Hyperbilirubinemia, Elevated circulating creatinine ...	ORPHA:542323
Posterior Urethral Valve	Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral valve, Unilat...	ORPHA:93110
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal insufficiency, Renal magnesium wasting	OMIM:154020
Smith-Lemli-Opitz Syndrome	Hypospadias, Renal hypoplasia, Hydronephrosis, Renal agenesis, Elevated 7-dehydrocholesterol, Hyp...	OMIM:270400
7Q11.23 Microduplication Syndrome	Hypospadias, Hydronephrosis, Patent ductus arteriosus, Unilateral renal agenesis, Enuresis, Obesity	ORPHA:96121
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Nephrocalcinosis, Renal cyst, Patent ductus arteriosus, Large for gestational age, Ureteral steno...	OMIM:615398
Duplication Of Urethra	Hypospadias, Bladder duplication, Chordee, Hypertrophy of the urinary bladder, Anuria, Dysuria, C...	ORPHA:237
Neurofaciodigitorenal Syndrome	Unilateral renal agenesis	ORPHA:2673
Ochoa Syndrome	Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoureteral reflux, ...	ORPHA:2704
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Pelvic kidney, Abnormal renal collecting system morphology, Severe failure to thrive...	ORPHA:468631
Combined Immunodeficiency With Faciooculoskeletal Anomalies	Recurrent urinary tract infections, Unilateral renal agenesis	ORPHA:221139
Cholera	Abnormality of renal excretion, Hyponatremia, Decreased urine output, Hypokalemia, Acute kidney i...	ORPHA:173
Cockayne Syndrome Type 3	Renal hypoplasia, Hydronephrosis, Urinary retention, Unilateral renal agenesis, Hydroureter, Rena...	ORPHA:90324
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulating acylcarnitin...	ORPHA:159
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst	OMIM:614862
Acrorenal-Mandibular Syndrome	Polycystic kidney dysplasia, Abnormality of the ureter, Renal agenesis, Aplasia of the bladder	OMIM:200980
Caroli Syndrome	Polycystic kidney dysplasia, Conjugated hyperbilirubinemia, Abnormality of the kidney, Hyperbilir...	ORPHA:480520
Fanconi-Bickel Syndrome	Hyperphosphaturia, Hypouricemia, Generalized aminoaciduria, Renal tubular dysfunction, Hypokalemi...	OMIM:227810
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hypospadias, Horseshoe kidney, Renal Fanconi syndrome, Renal agenesis, Renal cell carcinoma, Hype...	ORPHA:93111
Acute Monoblastic/Monocytic Leukemia	Weight loss, Oliguria	ORPHA:514
Infantile Nephropathic Cystinosis	Renal Fanconi syndrome, Hyperphosphaturia, Renal tubular dysfunction, Hypokalemia, Failure to thr...	ORPHA:411629
Meckel Syndrome, Type 2	Meningocele, Renal cyst	OMIM:603194
Floating-Harbor Syndrome	Hypospadias, Hydronephrosis, Renal agenesis, Small for gestational age, Nephrocalcinosis, Congeni...	ORPHA:2044
Cockayne Syndrome	Renal hypoplasia, Cachexia, Nephrotic syndrome, Abnormal renal physiology, Hyperuricemia, Urinary...	ORPHA:191
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Hypokalemia, Nephrocalcinosis, Failure to thrive, Abnormal uri...	ORPHA:320
Zttk Syndrome	Horseshoe kidney, Failure to thrive, Patent ductus arteriosus, Unilateral renal agenesis, Polyuria	OMIM:617140
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst, Nephrocalcinosis	ORPHA:445038
Transketolase Deficiency	Renal cyst, Elevated circulating ribitol concentration, Patent ductus arteriosus, Increased level...	ORPHA:488618
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Horseshoe kidney, Renal agenesis, Patent ductus arteriosus	OMIM:613680
Ventriculomegaly With Defects Of The Radius And Kidney	Horseshoe kidney, Ureteral duplication, Renal agenesis, Ectopic kidney	OMIM:602200
Colchicine Poisoning	Hyponatremia, Hypokalemia, Hypophosphatemia, Hypomagnesemia, Oliguria, Hypocalcemia, Renal insuff...	ORPHA:31824
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Renal cortical cysts, Increased serum pyruvate, Hyperalaninemia	OMIM:617668
Congenital Disorder Of Glycosylation, Type Ia	Nephrotic syndrome, Hypocholesterolemia, Proximal tubulopathy, Failure to thrive, Renal cyst, Hyp...	OMIM:212065
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Renal agenesis	ORPHA:2155
Penoscrotal Transposition	Hypospadias, Abnormality of the ureter, Renal agenesis, Renal dysplasia, Abnormality of the ureth...	ORPHA:2842
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Ureterocele, Multicystic kidney dysplasia	ORPHA:261265
Nephrolithiasis, Calcium Oxalate	Hyperoxaluria, Acute kidney injury, Ureteropelvic junction obstruction, Calcium oxalate nephrolit...	OMIM:167030
Acrofacial Dysostosis 1, Nager Type	Patent ductus arteriosus, Unilateral renal agenesis	OMIM:154400
Meckel Syndrome, Type 1	Abnormality of the ureter, Renal agenesis, Patent ductus arteriosus, Polycystic kidney dysplasia,...	OMIM:249000
Parathyroid Carcinoma	Hypercalcemia, Nephrocalcinosis, Weight loss, Hypophosphatemia, Renal cyst, Nephrolithiasis, Rena...	ORPHA:143
Primary Fanconi Renotubular Syndrome	Hypouricemia, Generalized aminoaciduria, Renal sodium wasting, Hypokalemia, Increased urinary pot...	ORPHA:3337
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele, Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Hypertrophy of the urinary bladder, Renal hypoplasia, Urethral obstruction, Renal dysplasia	OMIM:601389
Senior-Boichis Syndrome	Renal hypoplasia, Abnormal renal insterstitial morphology, Thickening of the tubular basement mem...	ORPHA:84081
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome	Hydronephrosis, Urogenital sinus anomaly, Displacement of the urethral meatus, Multicystic kidney...	ORPHA:2973
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis	ORPHA:457284
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hydroureter, Bilateral renal agenesis, Unilateral renal agenesis	OMIM:619194
Joubert Syndrome 14	Renal cyst	OMIM:614424
Axial Mesodermal Dysplasia Spectrum	Hydronephrosis, Abnormality of the ureter, Abnormality of the urinary system, Abnormal localizati...	ORPHA:1834
Peroxisome Biogenesis Disorder 1B	Renal cyst, Hyperoxaluria	OMIM:601539
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:263520
Leopard Syndrome 1	Hypospadias, Micropenis, Unilateral renal agenesis	OMIM:151100
Juvenile Nephropathic Cystinosis	Hyponatremia, Renal Fanconi syndrome, Hypocalcemic tetany, Hypouricemia, Hypokalemia, Failure to ...	ORPHA:411634
Ethylene Glycol Poisoning	Hyperkalemia, Renal tubular dysfunction, Decreased urine output, Hematuria, Renal tubular epithel...	ORPHA:31826
Renal-Hepatic-Pancreatic Dysplasia 2	Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Harrod Syndrome	Hypospadias, Multicystic kidney dysplasia, Failure to thrive	ORPHA:2115
Mungan Syndrome	Renal hypoplasia, Vesicoureteral reflux	OMIM:611376
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hypospadias, Hydronephrosis, Patent ductus arteriosus, Unilateral renal agenesis	ORPHA:487796
22Q11.2 Deletion Syndrome	Hypospadias, Renal hypoplasia, Meningocele, Occipital myelomeningocele, Failure to thrive, Hypoca...	ORPHA:567
Cystic Echinococcosis	Membranous nephropathy, Hepatic cysts, Weight loss, Renal cyst, Hyperbilirubinemia, Ovarian cyst	ORPHA:400
Meckel Syndrome, Type 7	Pancreatic cysts, Stage 5 chronic kidney disease, Patent ductus arteriosus, Multicystic kidney dy...	OMIM:267010
Digeorge Syndrome	Hydronephrosis, Renal dysplasia, Patent ductus arteriosus, Unilateral renal agenesis, Hypocalcemi...	OMIM:188400
Renal And Mullerian Duct Hypoplasia	Horseshoe kidney, Anteriorly displaced urethral meatus, Renal hypoplasia	OMIM:266810
Meckel Syndrome, Type 3	Multicystic kidney dysplasia	OMIM:607361
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Renal hypoplasia, Aminoaciduria, Calcinosis, Hydronephrosis	OMIM:617913
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypospadias, Abnormality of the urinary system, Polycystic ovaries, Micropenis, Unilateral renal ...	ORPHA:95699
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hypospadias, Failure to thrive in infancy, Small for gestational age, Chordee, Recurrent urinary ...	ORPHA:268261
Meckel Syndrome, Type 6	Renal cyst	OMIM:612284
Meckel Syndrome 12	Renal hypoplasia, Renal agenesis, Ureteral hypoplasia	OMIM:616258
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Nephrocalcinosis, Hypophosphatemia, Renal cyst, Nephrolithiasis, Renal hamartoma, ...	ORPHA:99880
Renal Hypodysplasia/Aplasia 1	Renal dysplasia, Renal agenesis, Proteinuria	OMIM:191830
Meckel Syndrome, Type 4	Meningocele, Renal cyst	OMIM:611134
Peroxisome Biogenesis Disorder 5A (Zellweger)	Failure to thrive, Renal cyst, Renal cortical microcysts	OMIM:614866
Matthew-Wood Syndrome	Failure to thrive, Horseshoe kidney, Renal hypoplasia, Vesicoureteral reflux	ORPHA:2470
Microscopic Polyangiitis	Glomerulopathy, Hematuria, Renal insufficiency, Oliguria	ORPHA:727
Caudal Regression Sequence	Ureteral duplication, Abnormality of the ureter, Renal agenesis, Vesicoureteral reflux, Ectopic k...	ORPHA:3027
Diffuse Cutaneous Systemic Sclerosis	Oliguria, Renal insufficiency	ORPHA:220393
Joubert Syndrome 2	Failure to thrive, Abnormal renal physiology, Renal cyst, Nephronophthisis	OMIM:608091
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Renal corticomedullary cysts	OMIM:219730
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Pancreatic cysts, Nephritis, Renal cyst, Conjugated hyperbilirubinemia, Chronic kidney disease, P...	OMIM:208500
Distal 22Q11.2 Microduplication Syndrome	Patent ductus arteriosus, Unilateral renal agenesis	ORPHA:261337
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Anuria, Elevated circ...	ORPHA:90038
Msh3-Related Attenuated Familial Adenomatous Polyposis	Renal cyst, Ovarian dermoid cyst	ORPHA:480536
Serkal Syndrome	Hypospadias, Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis	ORPHA:139466
Fraser Syndrome 2	Renal hypoplasia, Renal agenesis, Aplasia of the bladder	OMIM:617666
Microvillus Inclusion Disease	Abnormal renal physiology, Nephrocalcinosis	ORPHA:2290
Roberts Syndrome	Polycystic kidney dysplasia, Long penis	ORPHA:3103
Femoral-Facial Syndrome	Micropenis, Renal agenesis, Polycystic kidney dysplasia, Abnormal renal collecting system morphology	OMIM:134780
Oculoskeletodental Syndrome	Hypercalcemia, Mucopolysacchariduria, Renal agenesis, Small for gestational age, Hypocalcemia, Hy...	OMIM:618440
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Autosomal Dominant Cutis Laxa	Pyelonephritis, Bladder diverticulum, Unilateral renal agenesis	ORPHA:90348
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Developmental Delay With Or Without Dysmorphic Facies And Autism	Renal hypoplasia, Hydronephrosis, Renal cyst, Patent ductus arteriosus, Vesicoureteral reflux, Mi...	OMIM:618454
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Failure to thrive in infancy	OMIM:618829
Sepsis In Premature Infants	Small for gestational age, Reversible renal failure, Oliguria, Decreased body weight, Elevated ci...	ORPHA:90051
Trisomy 13	Hydronephrosis, Abnormality of the ureter, Patent ductus arteriosus, Displacement of the urethral...	ORPHA:3378
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Fetal megacystis, Pyelonephritis, Patent du...	OMIM:619351
Proboscis Lateralis	Ureteral agenesis, Duplication of renal pelvis, Patent ductus arteriosus, Unilateral renal agenesis	ORPHA:141099
Lassa Fever	Oliguria	ORPHA:99824
Mckusick-Kaufman Syndrome	Hydronephrosis, Failure to thrive, Patent ductus arteriosus, Urogenital sinus anomaly, Renal hypo...	ORPHA:2473
Campomelia, Cumming Type	Multicystic kidney dysplasia, Pancreatic cysts, Multiple renal cysts	ORPHA:1318
Kleefstra Syndrome	Hypospadias, Hydronephrosis, Renal cyst, Micropenis, Vesicoureteral reflux, Obesity, Hypoplasia o...	ORPHA:261494
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome	Cystic renal dysplasia, Renal agenesis, Increased urine alpha-ketoglutarate concentration, Patent...	OMIM:220500
Peutz-Jeghers Syndrome	Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts, Enlarged polycystic ovaries	ORPHA:2869
Atresia Of Urethra	Patent urachus, Hydronephrosis, Renal dysplasia, Megacystis, Bladder fistula, Recurrent urinary t...	ORPHA:105
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Renal dysplasia, Renal cyst, Bifid ureter, Large for gestational age, Nephrobl...	OMIM:617107
Severe Generalized Junctional Epidermolysis Bullosa	Ureteral obstruction, Hydronephrosis, Urinary retention, Failure to thrive, Aplasia/Hypoplasia of...	ORPHA:79404
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Horseshoe kidney, Renal cyst	ORPHA:166035
Bnar Syndrome	Renal agenesis	ORPHA:217266
Autosomal Recessive Hypophosphatemic Rickets	Abnormality of renal excretion, Hyperphosphaturia, Renal phosphate wasting, Renal hypophosphatemi...	ORPHA:289176
Schisis Association	Renal agenesis, Small for gestational age	ORPHA:63862
Vacterl/Vater Association	Hypospadias, Hydronephrosis, Renal agenesis, Multicystic kidney dysplasia, Abnormality of the ure...	ORPHA:887
Radio-Renal Syndrome	Renal dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Multicystic kidney dysplasia	ORPHA:3015
Genitopalatocardiac Syndrome	Hypospadias, Multicystic kidney dysplasia	ORPHA:2075
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Renal cyst, Patent ductus arteriosus	OMIM:617260
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalcemia, Nephrocalcinosis, Abnormality of the urinary system, Renal dysplasia, Congenital m...	ORPHA:369837
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Diaphanospondylodysostosis	Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney	OMIM:608022
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis	Renal agenesis	OMIM:192050
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Hyponatremia, Decreased urine output, Anuria, Acute kidney injury, Oliguria, Nephro...	ORPHA:544482
Enamel-Renal Syndrome	Nephrocalcinosis, Hypophosphaturia, Hypocalciuria, Impaired renal concentrating ability, Nephropa...	ORPHA:1031
Ulbright-Hodes Syndrome	Renal hypoplasia, Polycystic kidney dysplasia, Abnormal penis morphology	ORPHA:3404
Zellweger Syndrome	Hypospadias, Multicystic kidney dysplasia, Hydronephrosis, Failure to thrive	ORPHA:912
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Hydronephrosis, Renal agenesis	ORPHA:1297
Lumbar Syndrome	Hypospadias, Renal agenesis, Myelomeningocele, Renal duplication, Micropenis, Vesicoureteral refl...	ORPHA:83628
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Horseshoe kidney, Renal cyst	OMIM:250410
Neuromuscular Oculoauditory Syndrome	Elevated circulating creatine kinase concentration, Multiple renal cysts, Reduced renal corticome...	OMIM:618733
Proximal 16P11.2 Microdeletion Syndrome	Failure to thrive, Multicystic kidney dysplasia, Obesity	ORPHA:261197
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Horseshoe kidney, Patent ductus arteriosus after birth at term, Failure to thrive in infancy, Uni...	ORPHA:500150
Joubert Syndrome 21	Hyperechogenic kidneys, Renal cyst	OMIM:615636
Marden-Walker Syndrome	Hypospadias, Hydronephrosis, Renal agenesis, Abnormal penis morphology, Abnormality of the urinar...	ORPHA:2461
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Megacystis, Hydroureter	ORPHA:2241
Joubert Syndrome 5	Renal cortical cysts, Nephronophthisis, Impaired renal concentrating ability, Stage 5 chronic kid...	OMIM:610188
Fanconi Anemia, Complementation Group E	Horseshoe kidney, Renal agenesis, Small for gestational age, Duplicated collecting system, Abnorm...	OMIM:600901
Penile Agenesis	Cystic renal dysplasia, Bilateral renal hypoplasia, Hydronephrosis, Urethral fistula, Absent peni...	ORPHA:49
Alagille Syndrome 1	Renal hypoplasia, Focal segmental glomerulosclerosis, Failure to thrive, Renal tubular acidosis, ...	OMIM:118450
Pallister-Hall Syndrome	Hypospadias, Renal dysplasia, Bilateral renal agenesis, Patent ductus arteriosus, Large for gesta...	ORPHA:672
Alveolar Echinococcosis	Pancreatic cysts, Weight loss, Hepatic cysts, Renal cyst, Abnormality of bladder morphology	ORPHA:284
Joubert Syndrome 1	Renal cyst, Occipital myelomeningocele, Nephropathy	OMIM:213300
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Nephroblastoma, Obesity	ORPHA:1001
Lujo Hemorrhagic Fever	Microscopic hematuria, Elevated circulating C-reactive protein concentration, Renal insufficiency...	ORPHA:319213
Fanconi Anemia, Complementation Group A	Horseshoe kidney, Renal agenesis, Small for gestational age, Duplicated collecting system, Abnorm...	OMIM:227650
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Renal hypoplasia, Renal cyst, Patent ductus arteriosus	OMIM:616300
Von Hippel-Lindau Syndrome	Renal cell carcinoma, Pancreatic cysts, Multiple renal cysts, Epididymal cyst	OMIM:193300
Pearson Syndrome	Hypokalemia, Lacticaciduria,

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