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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 (610 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	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom...	OMIM:162000
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Hypercalcemia, Infantile, 2	Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin...	OMIM:616963
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood...	ORPHA:94088
Danubian Endemic Familial Nephropathy	Nephropathy	OMIM:124100
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Reduced renal corticomedullary diffe...	OMIM:617610
Well-Differentiated Liposarcoma	Abnormal renal physiology	ORPHA:99971
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc...	OMIM:143880
Bardet-Biedl Syndrome 10	Renal insufficiency, Obesity, Renal cyst	OMIM:615987
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Chronic kidney disease, ...	ORPHA:97362
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Hypocalcemia, Autosomal Dominant 1	Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Oligomeganephronia	Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ...	ORPHA:2260
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Hypophosphatemia, Re...	OMIM:613388
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Nephronophthisis 16	Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Polycystic kidney ...	OMIM:615382
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal...	OMIM:613090
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Orthostatic Hypotension 2	Decreased glomerular filtration rate	OMIM:618182
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Renal cyst, Obesity, Renal d...	OMIM:615993
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Unilateral renal agenesis	OMIM:235740
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ...	OMIM:613845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St...	OMIM:612925
Interstitial Pneumonitis, Desquamative, Familial	Failure to thrive, Tubulointerstitial fibrosis	OMIM:263000
Autosomal Recessive Primary Microcephaly	Vesicoureteral reflux, Unilateral renal agenesis	ORPHA:2512
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Patent ductus arteriosus, Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ...	OMIM:248250
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612926
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent...	ORPHA:1652
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He...	OMIM:612924
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Patent ductus arteriosus, Bilateral renal agenesis, Ureteral atresia, Unilateral renal agenesis	OMIM:618845
Type 1 Diabetes Mellitus	Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Neph...	OMIM:145001
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c...	OMIM:613095
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Hyperprolinemia Type 1	Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria	ORPHA:419
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Hypouricemia, Renal, 1	Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos...	OMIM:220150
Peroxisome Biogenesis Disorder 3A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Polycystic kidney dysplasia	OMIM:614859
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ...	ORPHA:488627
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Distal Renal Tubular Acidosis	Hyperphosphaturia, Failure to thrive, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria...	ORPHA:18
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic...	OMIM:263200
Nephrotic Syndrome, Type 10	Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim...	OMIM:615861
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Cryptorchidism, Unilateral Or Bilateral	Renal agenesis	OMIM:219050
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts	ORPHA:3033
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Failure to thrive, Hypernatremia, Megacystis, Polyuria	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Failure to thrive, Hypernatremia, Megacystis, Polyuria	OMIM:304800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta...	OMIM:617056
Glycogen Storage Disease Ia	Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyperuricemia, ...	OMIM:232200
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Bardet-Biedl Syndrome 14	Renal insufficiency, Obesity	OMIM:615991
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis	ORPHA:281090
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ...	ORPHA:567548
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Radial-Renal Syndrome	Unilateral renal agenesis, Ectopic kidney	OMIM:179280
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Unilateral renal agenesis	OMIM:206750
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Nephrotic Syndrome, Type 7	Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic...	OMIM:615008
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Glycogen Storage Disease Iv	Failure to thrive, Tubulointerstitial fibrosis	OMIM:232500
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis	OMIM:601355
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology	OMIM:609886
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney	OMIM:601076
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul...	OMIM:308990
Glycogen Storage Disease Ib	Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, Hyperuricemia, ...	OMIM:232220
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Decreased ...	ORPHA:470
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Meckel Syndrome, Type 8	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Unilateral renal agenesis, Patent ductus arteriosus, Failure to thrive...	OMIM:609757
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Renal cyst, Obesity	OMIM:615982
Bardet-Biedl Syndrome 17	Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis	OMIM:615994
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Unilateral renal agenesis	OMIM:618504
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst, Increased total bilirubin	OMIM:174050
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E...	ORPHA:228308
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia	OMIM:236110
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia	ORPHA:2091
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Failure to thrive, Proximal tubulopathy, Polyuria	OMIM:560000
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph...	OMIM:239200
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ...	ORPHA:340
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst	OMIM:611773
Hyperaldosteronism, Familial, Type Iii	Hypercalciuria, Hypokalemia, Polyuria, Decreased circulating renin level	OMIM:613677
Vesicoureteral Reflux 2	Vesicoureteral reflux, Renal hypoplasia	OMIM:610878
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Micropenis, Unilateral renal agenesis	OMIM:244200
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Focal segmental glomerulosclerosis, ...	OMIM:232240
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Teratoma, Pineal	Polyuria	OMIM:273120
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Obesity, Increased blood ur...	ORPHA:251004
Alkaptonuria	Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate	OMIM:203500
Beaulieu-Boycott-Innes Syndrome	Patent ductus arteriosus, Recurrent urinary tract infections, Unilateral renal agenesis, Horsesho...	OMIM:613680
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Elevated cir...	ORPHA:49041
Kallmann Syndrome With Spastic Paraplegia	Eunuchoid habitus, Micropenis, Unilateral renal agenesis	OMIM:308750
Braddock Syndrome	Failure to thrive, Unilateral renal agenesis	ORPHA:52047
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Patent ductus arteriosus, Micropenis, Crossed fused renal ectopia, Unilateral renal agenesis	OMIM:618142
Congenital Disorder Of Glycosylation, Type Il	Failure to thrive, Polycystic kidney dysplasia	OMIM:608776
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Thrombotic Thrombocytopenic Purpura, Hereditary	Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, Increased ...	OMIM:274150
Helix Syndrome	Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria	OMIM:617671
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Hypercalcemia, Renal salt wasting, ...	OMIM:601678
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Chronic kidney disease, Hypermagnesemia, Stage 5 chronic k...	ORPHA:94059
Drug-Induced Lupus Erythematosus	Hematuria, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive pr...	ORPHA:231111
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Bladder exstrophy	OMIM:600057
Chopra-Amiel-Gordon Syndrome	Unilateral renal agenesis	OMIM:619504
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,...	OMIM:235400
Congenital Disorder Of Glycosylation, Type Iil	Elevated circulating creatine kinase concentration, Unilateral renal agenesis, Patent ductus arte...	OMIM:614576
Femoral-Facial Syndrome	Long penis, Polycystic kidney dysplasia, Abnormal localization of kidney, Renal hypoplasia/aplasia	ORPHA:1988
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst	OMIM:614870
Burn-Mckeown Syndrome	Renal hypoplasia, Unilateral renal agenesis	OMIM:608572
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Methylmalonic Acidemia With Homocystinuria Type Cblf	Hypomethioninemia, Unilateral renal agenesis, Methylmalonic aciduria, Elevated circulating palmit...	ORPHA:79284
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Lessel-Kubisch Syndrome	Renal insufficiency, Renal hypoplasia	OMIM:618681
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased circulating renin l...	OMIM:612780
Coach Syndrome 1	Unilateral renal agenesis, Multiple small medullary renal cysts, Stage 5 chronic kidney disease, ...	OMIM:216360
Multiple Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:26791
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase concentration, Lo...	OMIM:608836
Meckel Syndrome, Type 9	Multicystic kidney dysplasia	OMIM:614209
Ehlers-Danlos Syndrome, Classic-Like	Vesicoureteral reflux, Unilateral renal agenesis	OMIM:606408
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Nephrotic Syndrome, Type 22	Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base...	OMIM:619155
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule...	ORPHA:839
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:614748
Tubulointerstitial Nephritis And Uveitis Syndrome	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat...	ORPHA:91500
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal insufficiency, Unilateral renal agenesis, Hydronephrosis, Hypocalcemia, Polycystic kidney d...	ORPHA:2237
Klippel-Feil Syndrome 1, Autosomal Dominant	Abnormality of the kidney, Unilateral renal agenesis	OMIM:118100
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Inverted Duplicated Chromosome 15 Syndrome	Unilateral renal agenesis	ORPHA:3306
Gitelman Syndrome	Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased circulating re...	OMIM:263800
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Isolated Polycystic Liver Disease	Multiple renal cysts, Increased total bilirubin	ORPHA:2924
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Polycystic kidney dysplasia, Vesic...	OMIM:113650
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Mayer-Rokitansky-Küster-Hauser Syndrome	Horseshoe kidney, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney	ORPHA:3109
Hogue-Janssen Syndrome 2	Unilateral renal agenesis	OMIM:616362
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Small for gestational age, Renal sa...	OMIM:241200
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced renal corticomedulla...	OMIM:619902
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Eunuchoid habitus, Micropenis, Unilateral renal agenesis	OMIM:308700
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Rhyns Syndrome	Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Renal hypoplasia, Unilateral renal agenesis	OMIM:618494
Distal Triplication 15Q	Abnormality of the kidney, Large for gestational age, Patent ductus arteriosus, Dilatation of the...	ORPHA:314588
Peroxisome Biogenesis Disorder 2A (Zellweger)	Elevated circulating long chain fatty acid concentration, Aminoaciduria, Failure to thrive, Polyc...	OMIM:214110
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	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
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri...	ORPHA:261222
Gillessen-Kaesbach-Nishimura Syndrome	Polycystic kidney dysplasia	OMIM:263210
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Joubert Syndrome 39	Overweight, Polycystic kidney dysplasia	OMIM:619562
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht...	OMIM:619113
Joubert Syndrome 20	Renal cyst	OMIM:614970
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Unilateral renal agenesis	ORPHA:1064
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Unilateral renal agen...	ORPHA:363444
Peroxisome Biogenesis Disorder 11A (Zellweger)	Failure to thrive, Multiple renal cysts, Renal cyst	OMIM:614883
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic kidney diseas...	ORPHA:79259
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Diamond-Blackfan Anemia 11	Unilateral renal agenesis	OMIM:614900
Coloboma Of Macula With Type B Brachydactyly	Renal agenesis	OMIM:120400
Trisomy 17P	Hypoplasia of penis, Urethral valve, Patent ductus arteriosus, Urethral stenosis, Polycystic kidn...	ORPHA:261290
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid...	ORPHA:411536
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure...	OMIM:154230
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ...	OMIM:602088
Emanuel Syndrome	Recurrent urinary tract infections, Unilateral renal agenesis, Patent ductus arteriosus, Renal hy...	OMIM:609029
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I...	OMIM:223900
Idiopathic Hypercalciuria	Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith...	ORPHA:2197
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Genitopalatocardiac Syndrome	Hypospadias, Renal cyst	OMIM:231060
Combined Oxidative Phosphorylation Deficiency 34	Failure to thrive, Elevated circulating creatinine concentration, Increased blood urea nitrogen	OMIM:617872
Axial Osteomalacia	Elevated circulating creatine kinase concentration, Renal cyst	OMIM:109130
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Hyperuricemia	ORPHA:510
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Hepatic cysts, Pancreatic cysts, Patent ductus arteriosus, Stage 5 chronic k...	OMIM:208540
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma...	OMIM:256300
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka...	ORPHA:99845
Fanconi Anemia, Complementation Group O	Hydronephrosis, Stage 5 chronic kidney disease, Renal cyst	OMIM:613390
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Vesicoureteral reflux, Micropenis, Unilateral renal agenesis	OMIM:619951
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena...	OMIM:618183
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Bardet-Biedl Syndrome 6	Hypospadias, Obesity, Renal cyst	OMIM:605231
Short Stature, Microcephaly, And Endocrine Dysfunction	Unilateral renal agenesis, Ectopic kidney, Renal hypoplasia, Truncal obesity, Micropenis, Abnorma...	OMIM:616541
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Idiopathic Steroid-Sensitive Nephrotic Syndrome	Nephrotic syndrome	ORPHA:69061
Orthostatic Hypotension 1	Hypomagnesemia, Nocturia, Increased blood urea nitrogen	OMIM:223360
Sacral Agenesis With Vertebral Anomalies	Unilateral renal agenesis, Persistent cloaca	OMIM:615709
Schizophrenia 1	Partially duplicated kidney, Renal agenesis, Ectopic kidney	OMIM:181510
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Multiple renal cysts, Renal hypoplasia/aplasia	ORPHA:1166
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Mullerian Aplasia And Hyperandrogenism	Unilateral renal agenesis	OMIM:158330
Nager Syndrome	Unilateral renal agenesis	ORPHA:245
Shashi-Pena Syndrome	Patent ductus arteriosus, Unilateral renal agenesis	OMIM:617190
Bifid Nose With Or Without Anorectal And Renal Anomalies	Renal agenesis, Unilateral renal agenesis	OMIM:608980
Hyperuricemia, Hprt-Related	Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria	OMIM:267430
Fraser Syndrome 2	Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl...	OMIM:617666
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Emanuel Syndrome	Unilateral renal agenesis, Patent ductus arteriosus, Renal hypoplasia, Micropenis, Failure to thrive	ORPHA:96170
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp...	ORPHA:79233
Cutis Laxa, Autosomal Dominant 3	Unilateral renal agenesis	OMIM:616603
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Renal agenesis, Unilateral renal agenesis	OMIM:619227
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Proximal tubulopathy, Hypoalbuminemia, Renal cyst	OMIM:602579
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Renal agenesis, Renal dysplasia, Ectopic kidney	ORPHA:2578
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil...	OMIM:614527
Denys-Drash Syndrome	Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma	ORPHA:220
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin...	ORPHA:3467
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia	ORPHA:2668
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Mody	Abnormality of the kidney, Elevated hemoglobin A1c, Large for gestational age, Overweight, Abnorm...	ORPHA:552
Attrv30M Amyloidosis	Nephropathy, Abnormal renal physiology, Weight loss	ORPHA:85447
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Increas...	ORPHA:230
Cystinuria	Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis	ORPHA:214
Systemic Capillary Leak Syndrome	Renal insufficiency, Weight loss, Oliguria, Abnormal renal tubule morphology	ORPHA:188
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog...	OMIM:614227
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Patent ductus arteriosus, Failure to thrive, Small for gestational age, Unilateral renal agenesis	OMIM:620024
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Patent ductus arteriosus, Abnormality of the kidney, Polycystic kidney dys...	OMIM:606232
Caroli Disease	Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration, Polycystic k...	ORPHA:53035
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
Joubert Syndrome 18	Renal cyst, Horseshoe kidney	OMIM:614815
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Small for gestational age, Conjugated hyperbilirubinemia, Elevated circulating phyta...	OMIM:614866
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal agenesis, Patent duct...	ORPHA:464311
Cockayne Syndrome Type 1	Renal insufficiency, Failure to thrive, Proteinuria, Increased blood urea nitrogen	ORPHA:90321
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Pancreatic cysts, Oliguria...	ORPHA:731
Paroxysmal Nocturnal Hemoglobinuria	Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ...	ORPHA:447
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia, Small for gestational age, Unilateral renal agenesis	OMIM:101800
Peroxisome Biogenesis Disorder 4A (Zellweger)	Increased circulating very long-chain fatty acid concentration, Renal cyst	OMIM:614862
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Increased circulating thyroglobulin level, Polycystic kidney dysplasia, Renal cyst	OMIM:610199
Verheij Syndrome	Small for gestational age, Renal agenesis, Renal hypoplasia, Renal cyst	OMIM:615583
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia	OMIM:614922
Takenouchi-Kosaki Syndrome	Patent ductus arteriosus, Hypospadias, Hydronephrosis, Unilateral renal agenesis	OMIM:616737
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos...	ORPHA:99879
Hyperparathyroidism, Transient Neonatal	Patent ductus arteriosus, Ovarian cyst, Enlarged kidney, Unilateral renal agenesis	OMIM:618188
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia	OMIM:613091
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Increased blood urea nitrogen,...	OMIM:233450
Spondyloenchondrodysplasia With Immune Dysregulation	Tubulointerstitial fibrosis	OMIM:607944
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Hyperuricosuria, Hyperuricemia, Uric acid nephrolithiasis, Acu...	ORPHA:411543
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Renal...	OMIM:613159
Bardet-Biedl Syndrome 3	Renal hypoplasia, Obesity	OMIM:600151
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Conjugated hyperbilirubinemia, Renal cyst, Hyperbilirubinemia, Abnormal serum bile ac...	ORPHA:79303
Neurooculorenal Syndrome	Hypoplasia of the bladder, Unilateral renal agenesis, Conjugated hyperbilirubinemia, Stage 2 chro...	OMIM:620305
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst	OMIM:236500
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Duplication Of Urethra	Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence...	ORPHA:237
Dyrk1A-Related Intellectual Disability Syndrome	Failure to thrive, Hypospadias, Small for gestational age, Unilateral renal agenesis, Patent duct...	ORPHA:464306
Bardet-Biedl Syndrome	Nephrotic syndrome, Hypoplasia of penis, Multicystic kidney dysplasia, Obesity	ORPHA:110
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Gapo Syndrome	Tubulointerstitial fibrosis	OMIM:230740
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Syndromic Diarrhea	Small for gestational age, Patent ductus arteriosus, Renal hypoplasia, Abnormality of iron homeos...	ORPHA:84064
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St...	OMIM:308940
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper...	ORPHA:542323
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Cholera	Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo...	ORPHA:173
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Meckel Syndrome 14	Polycystic kidney dysplasia	OMIM:619879
Distal Deletion 12Q	Failure to thrive in infancy, Ectopic kidney, Patent ductus arteriosus, Obesity, Polycystic kidne...	ORPHA:96149
Neurofaciodigitorenal Syndrome	Unilateral renal agenesis	ORPHA:2673
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, H...	ORPHA:93111
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so...	ORPHA:320
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia...	ORPHA:159
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Hypouricemia, Large for gestational age, Hypophosphatemia, Nephro...	OMIM:616026
Fanconi Anemia, Complementation Group L	Micropenis, Renal hypoplasia, Unilateral renal agenesis	OMIM:614083
Meckel Syndrome, Type 5	Renal cyst	OMIM:611561
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
3-Methylglutaconic Aciduria Type 7	Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria, Renal cyst	ORPHA:445038
Acrorenal-Mandibular Syndrome	Renal agenesis, Aplasia of the bladder, Abnormality of the ureter, Polycystic kidney dysplasia	OMIM:200980
Hajdu-Cheney Syndrome	Hypospadias, Patent ductus arteriosus, Renal cyst, Polycystic kidney dysplasia, Failure to thrive	OMIM:102500
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo...	ORPHA:411629
Acute Monoblastic/Monocytic Leukemia	Oliguria, Weight loss	ORPHA:514
Myoectodermal Gonadal Dysgenesis Syndrome	Small for gestational age, Unilateral renal agenesis	OMIM:618419
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Hydronephrosis, Unilateral renal agenesis	OMIM:308050
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Renal hypoplasia...	ORPHA:90324
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Hypospadias, Unilateral renal agenesis, Microphallus, Severe failure to thrive, Abnormal renal co...	ORPHA:468631
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Recurrent urinary tract infections, Unilateral renal agenesis	ORPHA:221139
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:616546
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Renal cyst	OMIM:614175
Transketolase Deficiency	Increased level of ribose in urine, Patent ductus arteriosus, Renal cyst, Elevated circulating ri...	ORPHA:488618
Penoscrotal Transposition	Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o...	ORPHA:2842
Caroli Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormality of the kidney, Polycystic kidney d...	ORPHA:480520
7Q11.23 Microduplication Syndrome	Hypospadias, Unilateral renal agenesis, Patent ductus arteriosus, Obesity, Enuresis, Hydronephrosis	ORPHA:96121
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst	OMIM:617100
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Large for gestational age, Patent ductus arteriosus, Hypercalciur...	OMIM:615398
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Horseshoe kidney, Ectopic kidney	OMIM:602200
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Oliguria, Abnormal blood ion concentration, Hypophosphatemia, ...	ORPHA:31824
Zttk Syndrome	Polyuria, Unilateral renal agenesis, Patent ductus arteriosus, Horseshoe kidney, Failure to thrive	OMIM:617140
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Small for gestational age, Dilatation of the renal pelvis, Stage 5 c...	ORPHA:2044
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia, Obesity	OMIM:615989
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts	OMIM:311200
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Renal agenesis	ORPHA:2155
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Renal hypoplasia, Unilateral renal agenesis, Pyelonephritis	OMIM:181270
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the ureter, Renal cyst, Abnormal localization of kidney,...	ORPHA:1834
Parathyroid Carcinoma	Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:143
Smith-Lemli-Opitz Syndrome	Ureteropelvic junction obstruction, Duplicated collecting system, Hypospadias, Renal agenesis, Un...	OMIM:270400
Primary Fanconi Renotubular Syndrome	Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa...	ORPHA:3337
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Bilateral renal agenesis, Unilateral renal agenesis, Hydroureter	OMIM:619194
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Patent ductus arteriosus, Unilateral renal agenesis, Large for gestational age	OMIM:213980
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:263520
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Juvenile Nephropathic Cystinosis	Hyponatremia, Renal insufficiency, Failure to thrive, Proteinuria, Hypocalcemic tetany, Hypourice...	ORPHA:411634
Harrod Syndrome	Multicystic kidney dysplasia, Failure to thrive, Hypospadias	ORPHA:2115
Meckel Syndrome, Type 3	Multicystic kidney dysplasia	OMIM:607361
Ethylene Glycol Poisoning	Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ...	ORPHA:31826
Meckel Syndrome, Type 2	Renal cyst	OMIM:603194
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Unilateral renal agenesis	ORPHA:457284
Cystic Echinococcosis	Renal cyst, Weight loss, Membranous nephropathy, Ovarian cyst, Hyperbilirubinemia, Hepatic cysts	ORPHA:400
Cenani-Lenz Syndactyly Syndrome	Renal agenesis, Renal hypoplasia, Ectopic kidney	OMIM:212780
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Patent ductus arteriosus, Hypospadias, Hydronephrosis, Unilateral renal agenesis	ORPHA:487796
Meckel Syndrome, Type 1	Hypoplasia of the bladder, Renal agenesis, Patent ductus arteriosus, Abnormality of the ureter, E...	OMIM:249000
Renal And Mullerian Duct Hypoplasia	Anteriorly displaced urethral meatus, Renal hypoplasia, Horseshoe kidney	OMIM:266810
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Patent ductus arterios...	OMIM:267010
22Q11.2 Deletion Syndrome	Hypospadias, Patent ductus arteriosus, Renal hypoplasia, Obesity, Multiple renal cysts, Hypocalce...	ORPHA:567
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure...	ORPHA:3027
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Failure to thrive in infancy	OMIM:618829
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Hypospadias, Unilateral renal agenesis, Enlarged polycystic ovaries, Dilatation of the renal pelv...	ORPHA:95699
Microscopic Polyangiitis	Hematuria, Glomerulopathy, Renal insufficiency, Oliguria	ORPHA:727
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Patent ductus arteriosus, Renal agenesis, Cyst...	OMIM:220500
Diffuse Cutaneous Systemic Sclerosis	Renal insufficiency, Oliguria	ORPHA:220393
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:99880
Leopard Syndrome 1	Micropenis, Hypospadias, Unilateral renal agenesis	OMIM:151100
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Pancreatic cysts, Chronic kidney...	OMIM:208500
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Recurrent urinary tract infections, Hypospadias, Small for gestational age, Unilateral renal agen...	ORPHA:268261
Meckel Syndrome, Type 4	Renal cyst	OMIM:611134
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst	ORPHA:480536
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias	ORPHA:139466
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,...	ORPHA:90038
Matthew-Wood Syndrome	Vesicoureteral reflux, Failure to thrive, Renal hypoplasia, Horseshoe kidney	ORPHA:2470
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Microvillus Inclusion Disease	Nephrocalcinosis, Abnormal renal physiology	ORPHA:2290
Joubert Syndrome 2	Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis	OMIM:608091
Roberts Syndrome	Long penis, Polycystic kidney dysplasia	ORPHA:3103
Lassa Fever	Oliguria	ORPHA:99824
Lipodystrophy, Familial Partial, Type 7	Hypertriglyceridemia, Small for gestational age, Polyuria, Hypercholesterolemia, Failure to thrive	OMIM:606721
Oculoskeletodental Syndrome	Renal agenesis, Hypercalcemia, Small for gestational age, Hypercalciuria, Mucopolysacchariduria, ...	OMIM:618440
Congenital Disorder Of Glycosylation, Type Ia	Proteinuria, Renal cyst, Nephrotic syndrome, Proximal tubulopathy, Hypoalbuminemia, Hypocholester...	OMIM:212065
Sepsis In Premature Infants	Small for gestational age, Elevated circulating C-reactive protein concentration, Oliguria, Rever...	ORPHA:90051
Femoral-Facial Syndrome	Micropenis, Renal agenesis, Polycystic kidney dysplasia, Abnormal renal collecting system morphology	OMIM:134780
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Patent ductus arterio...	ORPHA:2473
Distal 22Q11.2 Microduplication Syndrome	Patent ductus arteriosus, Unilateral renal agenesis	ORPHA:261337
Meckel Syndrome, Type 6	Aplasia of the bladder, Hepatic cysts, Renal cyst, Horseshoe kidney	OMIM:612284
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia	OMIM:619980
Acrofacial Dysostosis 1, Nager Type	Patent ductus arteriosus, Unilateral renal agenesis	OMIM:154400
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Obesity, Renal cyst, Vesicoureteral reflux...	ORPHA:261494
8Q24.3 Microdeletion Syndrome	Small for gestational age, Abnormality of the kidney, Unilateral renal agenesis, Patent ductus ar...	ORPHA:508488
Digeorge Syndrome	Renal insufficiency, Unilateral renal agenesis, Patent ductus arteriosus, Obesity, Hydronephrosis...	OMIM:188400
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Patent ductus arteriosus, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hy...	OMIM:619351
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Trisomy 13	Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cysts, Displacement of the ur...	ORPHA:3378
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Renal hypoplasia, Renal cyst, Hyperbilirubinemia, Polycystic kidney dysplasia, Micropenis, Failur...	OMIM:210710
Campomelia, Cumming Type	Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Ogden Syndrome	Global glomerulosclerosis, Patent ductus arteriosus, Hyperbilirubinemia, Polycystic kidney dyspla...	OMIM:300855
Autosomal Dominant Cutis Laxa	Bladder diverticulum, Unilateral renal agenesis, Pyelonephritis	ORPHA:90348
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatic cysts, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Bnar Syndrome	Renal agenesis	ORPHA:217266
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Patent ductus arteriosus after premature birth, Renal hypoplasia, Renal cys...	OMIM:618460
Peutz-Jeghers Syndrome	Enlarged polycystic ovaries, Renal cell carcinoma, Abnormality of the ureter, Multiple renal cysts	ORPHA:2869
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Renal cyst	OMIM:615560
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Renal cyst, Horseshoe kidney	ORPHA:166035
Proboscis Lateralis	Ureteral agenesis, Duplication of renal pelvis, Patent ductus arteriosus, Unilateral renal agenesis	ORPHA:141099
Vacterl/Vater Association	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A...	ORPHA:887
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia, Patent ductus arteriosus, Hypercalciuria, Renal cyst, Obesit...	ORPHA:369837
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, R...	ORPHA:289176
Trisomy 1Q	Patent ductus arteriosus, Multicystic kidney dysplasia, Congenital megaureter, Hydronephrosis	ORPHA:261344
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias	ORPHA:2075
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Failure to thrive, Obesity	ORPHA:261197
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati...	OMIM:618733
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney	OMIM:250410
Joubert Syndrome 14	Renal cyst	OMIM:614424
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Nephrotic range ...	ORPHA:544482
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Zellweger Syndrome	Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Hydronephrosis	ORPHA:912
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Small for gestational age, Renal cyst,...	OMIM:257300
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Ulbright-Hodes Syndrome	Abnormal penis morphology, Renal hypoplasia, Polycystic kidney dysplasia	ORPHA:3404
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Patent ductus arteriosus, Renal dysplasia, Renal cyst	OMIM:617260
Lujo Hemorrhagic Fever	Renal insufficiency, Microscopic hematuria, Oliguria, Elevated circulating C-reactive protein con...	ORPHA:319213
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Bilateral renal dysplasia, Unilateral renal agenesis, Patent ductus...	ORPHA:500150
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Renal dyspl...	OMIM:308205
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Nephroblastoma, Obesity	ORPHA:1001
Joubert Syndrome 1	Nephropathy, Renal cyst	OMIM:213300
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Distal urethral duplication, Ectopic kidney, Patent ductus arterios...	OMIM:146510
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Large for gestational age, Renal cyst, Nephroblastoma, Bifid ureter, Renal dys...	OMIM:617107
Pallister-Hall Syndrome	Hypospadias, Unilateral renal agenesis, Ectopic kidney, Large for gestational age, Patent ductus ...	ORPHA:672
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts	ORPHA:220460
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1454
Alveolar Echinococcosis	Pancreatic cysts, Renal cyst, Weight loss, Abnormal bladder morphology, Hepatic cysts	ORPHA:284
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Renal agenesis, Small for gestational age, Ectopic kidney, Abnormal...	OMIM:227650
Lumbar Syndrome	Renal agenesis, Hypospadias, Vesicoureteral reflux, Micropenis, Bladder exstrophy, Renal duplication	ORPHA:83628
Pearson Syndrome	Renal insufficiency, Proteinuria, Small for gestational age, Hypomagnesemia, Lacticaciduria, Rena...	ORPHA:699
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Failure to thrive, Unilateral renal agenesis, Urinary urgency, Hypocalcemia, Hypomagnesemia, Micr...	OMIM:619503
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
Von Hippel-Lindau Syndrome	Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Epididymal cyst	OMIM:193300
Developmental Delay With Or Without Dysmorphic Facies And Autism	Patent ductus arteriosus, Renal hypoplasia, Renal cyst, Microphallus, Vesicoureteral reflux, Hydr...	OMIM:618454
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Small for gestational age, Renal agenesis, Ectopic kidney, Horsesho...	OMIM:600901
Mosaic Trisomy 1	Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst	ORPHA:1692
Tuberous Sclerosis 1	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst	OMIM:191100
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Vesicoureteral reflux	ORPHA:140952
Alagille Syndrome 1	Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Stage 5...	OMIM:118450
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal...	OMIM:122470
D-Bifunctional Protein Deficiency	Increased circulating very long-chain fatty acid concentration, Failure to thrive, Renal cyst	OMIM:261515
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Horseshoe kidney, Crossed...	ORPHA:2538
Trisomy 20P	Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne...	ORPHA:261318
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia	ORPHA:3301
Atelosteogenesis Type I	Multiple renal cysts	ORPHA:1190
Tuberous Sclerosis 2	Renal angiomyolipoma, Renal cell carcinoma, Renal cyst, Absence of renal corticomedullary differe...	OMIM:613254
Genitopatellar Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:85201
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	D-2-hydroxyglutaric aciduria, Failure to thrive, Unilateral renal agenesis	ORPHA:99646
Acrocephalopolydactylous Dysplasia	Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Fryns Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Hydronephrosis	ORPHA:2059
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Patent ductus arteriosus, Horseshoe kidney, Multiple renal ...	ORPHA:99776
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma	ORPHA:538
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Patent ductus arteriosus, Renal hypoplasia, Renal cyst	OMIM:616300
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Failure to thrive, Pancreatic cysts, Stage 5 chronic kidney disease, Renal ...	OMIM:266920
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Hypoammonemia, Proximal renal tub...	ORPHA:534
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Failure to thrive, Hydronephrosis	ORPHA:261349
Exstrophy-Epispadias Complex	Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias...	ORPHA:322
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy...	ORPHA:466650
Kaposiform Lymphangiomatosis	Pancreatic cysts, Multiple renal cysts, Enlarged kidney	ORPHA:464329
Roberts-Sc Phocomelia Syndrome	Hypospadias, Patent ductus arteriosus, Long penis, Horseshoe kidney, Polycystic kidney dysplasia	OMIM:268300
Yellow Fever	Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula...	ORPHA:99829
Joubert Syndrome 21	Hyperechogenic kidneys, Renal cyst	OMIM:615636
Histiocytoid Cardiomyopathy	Failure to thrive, Renal cyst, Polycystic ovaries	ORPHA:137675
Von Hippel-Lindau Disease	Elevated urinary catecholamine level, Pancreatic cysts, Renal cell carcinoma, Multiple renal cyst...	ORPHA:892
Cutis Marmorata Telangiectatica Congenita	Patent ductus arteriosus, Displacement of the urethral meatus, Multicystic kidney dysplasia	ORPHA:1556
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Patent ductus arteriosus, Horseshoe kidne...	ORPHA:2092
Fryns Syndrome	Ureteral duplication, Renal agenesis, Hypospadias, Large for gestational age, Renal cyst, Hydrone...	OMIM:229850
Beckwith-Wiedemann Syndrome	Nephrolithiasis, Renal cortical cysts, Nephrocalcinosis, Vesicoureteral reflux, Nephroblastoma, E...	OMIM:130650
Beckwith-Wiedemann Syndrome	Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Large for gestational...	ORPHA:116
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Nephroblastoma, Bifid...	ORPHA:500095
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Vesicoureteral reflux, Patent ductus arteriosus, Hypospadias, Renal cyst	OMIM:616975
Thoracoabdominal Syndrome	Patent ductus arteriosus, Renal agenesis, Hypospadias	OMIM:313850
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Small for gestational age, Patent ductus arteriosus, A...	ORPHA:1596
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Hydronephrosis	ORPHA:2750
Short-Rib Thoracic Dysplasia 12	Patent ductus arteriosus, Renal hypoplasia, Cystic renal dysplasia	OMIM:269860
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia	ORPHA:1393
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Patent ur...	OMIM:192350
Cerebrocostomandibular Syndrome	Patent ductus arteriosus, Horseshoe kidney, Renal cyst, Ectopic kidney	OMIM:117650
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Azotemia, Micropenis, Renal hypoplasia, Abdominal obesity	OMIM:619321
Trisomy 10P	Small for gestational age, Multiple renal cysts, Abnormality of the kidney	ORPHA:171929
Cranioectodermal Dysplasia 2	Patent ductus arteriosus, Renal insufficiency, Hyperbilirubinemia, Renal cyst	OMIM:613610
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Schinzel-Giedion Syndrome	Hypospadias, Failure to thrive in infancy, Abnormality of the ureter, Nephrolithiasis, Renal cyst...	ORPHA:798
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Elevated circulating creatine kinase co...	OMIM:615287
Pagod Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:991
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Osteopathia Striata With Cranial Sclerosis	Patent ductus arteriosus, Multicystic kidney dysplasia, Failure to thrive	OMIM:300373
Oeis Complex	Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic...	OMIM:258040
Townes-Brocks Syndrome 1	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Small for gestati...	OMIM:107480
C Syndrome	Multicystic kidney dysplasia, Failure to thrive in infancy, Horseshoe kidney, Renal hypoplasia/ap...	ORPHA:1308
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Renal cyst	ORPHA:495875
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Patent ductus arteriosus, Obesity, R...	ORPHA:1606
Robinow Syndrome	Multicystic kidney dysplasia, Small for gestational age, Webbed penis, Micropenis, Hydronephrosis	ORPHA:97360
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Patent ...	ORPHA:818
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Nephroblastoma	ORPHA:1052
Hajdu-Cheney Syndrome	Patent ductus arteriosus, Multiple renal cysts, Failure to thrive, Hypospadias	ORPHA:955
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit...	ORPHA:904
Meckel Syndrome	Pancreatic cysts, Ureteral duplication, Multicystic kidney dysplasia, Urethral atresia	ORPHA:564
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hydronephrosis	ORPHA:1507
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Hydronephrosis	ORPHA:93271
Jacobsen Syndrome	Multicystic kidney dysplasia, Hydronephrosis	ORPHA:2308
Cornelia De Lange Syndrome	Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Truncal obes...	ORPHA:199
Tetrasomy 9P	Renal dysplasia, Recurrent urinary tract infections, Horseshoe kidney, Multiple renal cysts, Micr...	ORPHA:3310
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia, Urethral atresia	ORPHA:2052
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Patent...	ORPHA:709
Proteus Syndrome	Enlarged polycystic ovaries, Cachexia, Long penis, Renal cyst	ORPHA:744
Simpson-Golabi-Behmel Syndrome, Type 1	Hypospadias, Patent ductus arteriosus, Renal cyst, Duplication of renal pelvis, Nephroblastoma, H...	OMIM:312870
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Renal cyst	OMIM:113620
Genitopatellar Syndrome	Micropenis, Multicystic kidney dysplasia, Hydronephrosis	OMIM:606170
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Vesicoure...	OMIM:164210
Pmm2-Cdg	Proteinuria, Reduced thyroxin-binding globulin, Nephrotic syndrome, Multiple renal cysts, Hypoalb...	ORPHA:79318
Mowat-Wilson Syndrome	Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of the kidney, Paten...	ORPHA:2152
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Chordee, Vesi...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Patent ductus...	ORPHA:261552
Pallister-Killian Syndrome	Hypospadias, Patent ductus arteriosus, Obesity, Renal cyst, Renal dysplasia	OMIM:601803

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lin7c

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lin7c.

No publications found that use IMPC mice or data for Lin7c.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Lin7c^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Lin7c^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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