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Gene: Pou3f3 MGI:102564

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

POU domain, class 3, transcription factor 3

Synonyms:

HST011, Otf8, urehr2, Brn1, Brn-1

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 Pou3f3 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 Pou3f3 (1 diseases)
Human diseases predicted to be associated with Pou3f3 (753 diseases)

The table below shows human diseases associated to Pou3f3 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Snijders Blok-Fisher Syndrome		Protruding ear, Cupped ear	OMIM:618604

The table below shows human diseases predicted to be associated to Pou3f3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Elevated circulating creatinine concentration, Urolithiasis, Renal insufficiency, 2,8-d...	OMIM:614723
Hypouricemia, Renal, 1	Hypouricemia, Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Elevated circulati...	OMIM:220150
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Glycosuria, Renal tubular cyst, Elevated circulating creatinine concentration, ...	OMIM:614817
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal...	OMIM:128980
Adenine Phosphoribosyltransferase Deficiency	Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract...	ORPHA:976
Renal Failure, Progressive, With Hypertension	Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i...	OMIM:161900
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Lipoprotein Glomerulopathy	Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity	OMIM:611771
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Glomerulopathy With Fibronectin Deposits 2	Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis...	OMIM:601894
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Stage 5 chronic kidne...	OMIM:612925
Primary Membranoproliferative Glomerulonephritis	Chronic kidney disease, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kidney disease, Ren...	ORPHA:54370
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Glomerulopathy With Fibronectin Deposits 1	Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency...	OMIM:137950
Genetic Recurrent Myoglobinuria	Acute kidney injury, Oliguria, Hyperphosphatemia, Exercise-induced myoglobinuria, Dark urine, Ren...	ORPHA:99845
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612926
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Proteinuria, Hematuri...	OMIM:612924
C3 Glomerulopathy 3	Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes...	OMIM:614809
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits	ORPHA:69063
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypouricemia, Acute kidney injury, Decreased glomerular filtration rate, ...	ORPHA:94088
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Hyperuricemia, Abnormal renal tubule morphology, Renal insufficiency, Multiple glomerular cysts	OMIM:609886
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:256020
Nephrotic Syndrome, Type 7	Thickened glomerular basement membrane, Hypoalbuminemia, Acute kidney injury, Stage 5 chronic kid...	OMIM:615008
Deafness-Ear Malformation-Facial Palsy Syndrome	Aplasia/Hypoplasia of the earlobes, Hypoplasia of the antihelix, Conductive hearing impairment, A...	ORPHA:3232
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r...	OMIM:620049
Xanthinuria, Type Ii	Hypouricemia, Increased circulating hypoxanthine concentration, Increased urinary hypoxanthine le...	OMIM:603592
Bardet-Biedl Syndrome 18	Stage 5 chronic kidney disease, Renal insufficiency	OMIM:615995
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency	OMIM:615987
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote...	OMIM:603965
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Focal Segmental Glomerulosclerosis 6	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:614131
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos...	OMIM:308990
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria...	OMIM:616002
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hyperleucinemia, Hyperammonemia, Hypervalinemia, Increased blood urea nitrogen, Hyperisoleucinemia	OMIM:620085
Cystinuria	Hyperlysinuria, Recurrent urinary tract infections, Renal insufficiency, Nephrolithiasis, Cystinu...	OMIM:220100
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:600995
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5...	OMIM:617609
Nephrosialidosis	Nephropathy, Nephrotic syndrome, Renal insufficiency, Death in childhood	OMIM:256150
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s...	OMIM:616893
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Nail-Patella-Like Renal Disease	Proteinuria, Microscopic hematuria, Renal insufficiency, Glomerulopathy	ORPHA:2613
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co...	ORPHA:567544
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:616032
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan...	OMIM:301028
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn...	OMIM:613092
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency	OMIM:607832
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ...	OMIM:615573
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:614199
Hypercalcemia, Infantile, 2	Renal phosphate wasting, Nephrocalcinosis, Medullary nephrocalcinosis, Hypercalciuria, Hypophosph...	OMIM:616963
Nephronophthisis-Like Nephropathy 2	Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal insufficienc...	OMIM:619468
Ichthyosis, Impaired Intellectual Development, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,...	OMIM:310468
Nephronophthisis	Renal insufficiency	ORPHA:655
Nephrotic Syndrome, Type 17	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:618176
Nephronophthisis 7	Stage 5 chronic kidney disease, Renal tubular atrophy, Nephronophthisis	OMIM:611498
Combined Oxidative Phosphorylation Deficiency 34	Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hypoglycemia	OMIM:617872
Nephronophthisis 2	Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ...	OMIM:602088
Deafness, Progressive, With Stapes Fixation	Bilateral conductive hearing impairment, Stapes ankylosis	OMIM:601449
Progressive Deafness With Stapes Fixation	Bilateral conductive hearing impairment, Stapes ankylosis	ORPHA:3235
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Nephropathy, Nephritis, Decreased glomerular filtration rate, Renal insufficiency, Hyperuricemia,...	OMIM:162000
Complement Factor H Deficiency	Chronic kidney disease, Hematuria, Thickened glomerular basement membrane, Glomerular subendothel...	OMIM:609814
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Fibronectin Glomerulopathy	Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom...	ORPHA:84090
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero...	OMIM:256370
Hyperinsulinism Due To Insr Deficiency	Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Abnormal circ...	ORPHA:263458
Deafness, X-Linked 2	Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari...	OMIM:304400
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Chronic kidney disease, Hyperechogenic kidneys, Hypomagnesemia, Hyperuricemia, Proteinuria, Hypon...	OMIM:613845
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis	OMIM:613779
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Stage 4 chronic kidney disease, Renal insufficiency, Hyperuricemia, Hyperuri...	ORPHA:411536
Colchicine Poisoning	Oliguria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosp...	ORPHA:31824
Fanconi Renotubular Syndrome 3	Aminoaciduria, Glycosuria, Elevated circulating creatinine concentration, Low-molecular-weight pr...	OMIM:615605
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency, Abnormal circulating acylcarnitine concentration, Elevated circulating creat...	OMIM:620235
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Bardet-Biedl Syndrome 16	Renal agenesis, Stage 5 chronic kidney disease, Renal insufficiency, Renal cyst, Renal dysplasia	OMIM:615993
Symphalangism, Proximal, 1A	Conductive hearing impairment, Distal symphalangism of hands, Stapes ankylosis, Carpal synostosis...	OMIM:185800
Alport Syndrome 3B, Autosomal Recessive	Thin glomerular basement membrane, Stage 5 chronic kidney disease, Renal insufficiency, Proteinur...	OMIM:620536
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Decreased circulating renin level, Hyponatremia, Hyposthenuria, Reduced blood ure...	OMIM:300539
Hyperinsulinism-Hyperammonemia Syndrome	Increased urine alpha-ketoglutarate concentration, Asymptomatic hyperammonemia, Fasting hyperinsu...	ORPHA:35878
Deafness-Hypogonadism Syndrome	Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he...	ORPHA:90646
3-Methylcrotonyl-Coa Carboxylase Deficiency	Hypoglycemia, Organic aciduria, Hyperammonemia, Abnormal circulating leucine concentration	ORPHA:6
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Nephrocalcinosis, Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Polyuria	OMIM:620152
Iga Nephropathy, Susceptibility To, 2	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:613944
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema...	OMIM:613237
Lesch-Nyhan Syndrome	Hematuria, Renal insufficiency, Hyperuricemia	ORPHA:510
Carnitine-Acylcarnitine Translocase Deficiency	Elevated circulating acylcarnitine concentration, Oliguria, Decreased circulating carnitine conce...	ORPHA:159
Systemic Capillary Leak Syndrome	Oliguria, Renal insufficiency, Abnormal renal tubule morphology	ORPHA:188
Mesangial sclerosis, diffuse renal, with ocular abnormalities	Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency	OMIM:249660
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro...	OMIM:616818
Nephrotic Syndrome, Type 6	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c...	OMIM:614196
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio...	OMIM:143400
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease...	ORPHA:228302
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome...	OMIM:618594
Liddle Syndrome	Nephropathy, Renal insufficiency, Hypokalemia	ORPHA:526
Renal Tubular Acidosis, Distal, 1	Nephrocalcinosis, Elevated circulating creatinine concentration, Distal renal tubular acidosis, H...	OMIM:179800
Dicarboxylic Aminoaciduria	Aminoaciduria, Fasting hypoglycemia, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,...	OMIM:610725
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Renal insufficie...	ORPHA:79233
Stapes Ankylosis With Broad Thumbs And Toes	Conductive hearing impairment, Stapes ankylosis, Proximal/middle symphalangism of 5th finger, Con...	OMIM:184460
Glycogen Storage Disease Xi	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Abnormal renal tubule morphology, Renal insufficiency	ORPHA:1909
Cryoglobulinemia, Familial Mixed	Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Proteinuria, Ab...	OMIM:123550
Uremic Pruritus	Chronic kidney disease, Renal hypophosphatemia, Hypermagnesemia, Stage 5 chronic kidney disease, ...	ORPHA:94059
Lecithin:Cholesterol Acyltransferase Deficiency	Proteinuria, Renal insufficiency, Hypertriglyceridemia, Decreased HDL cholesterol concentration	OMIM:245900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperlipidemia, Incre...	OMIM:235400
Dent Disease 2	Aminoaciduria, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weig...	OMIM:300555
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Chronic kidney disease, Nephropathy, Elevated circulating cre...	OMIM:617056
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency	OMIM:618681
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
C3 Glomerulopathy	Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated...	ORPHA:329918
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria	OMIM:606996
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Renal potassium...	OMIM:618314
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Hypercalcemia, Infantile, 1	Nephrocalcinosis, Medullary nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Hypercal...	OMIM:143880
Nephrotic Syndrome, Type 22	Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff...	OMIM:619155
Granulomatous Slack Skin	Acute kidney injury, Hypercalcemia, Nephrocalcinosis	ORPHA:33111
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Reduced renal corticomedullary differenti...	OMIM:617610
Lassa Fever	Oliguria, Miscarriage	ORPHA:99824
Coach Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Renal interstitial fibrosi...	OMIM:619113
Congenital Glucokinase-Related Hyperinsulinism	Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormal circulating ...	ORPHA:79299
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Hyperuricemia, Hprt-Related	Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis	OMIM:300323
Hemorrhagic Fever-Renal Syndrome	Chronic kidney disease, Acute kidney injury, Oliguria, Hyperphosphatemia, Anuria, Elevated circul...	ORPHA:340
Nephrotic Syndrome, Type 12	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616892
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency	Hypoglycemia, Hypertriglyceridemia	ORPHA:366
Senior-Loken Syndrome 1	Nephronophthisis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:266900
Lcat Deficiency	Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ...	ORPHA:650
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:160010
Propionic Acidemia	Organic aciduria, Hyperammonemia, Hypoglycemia	ORPHA:35
Proteinuria, Chronic Benign	Proteinuria, Albuminuria, Renal insufficiency	OMIM:618884
Idiopathic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa...	ORPHA:567548
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Proteinuria, Glomerulopathy, Hypercalcemia, Renal insufficiency	ORPHA:2668
Malaria	Elevated circulating C-reactive protein concentration, Acute kidney injury, Hyperbilirubinemia	ORPHA:673
Nephrotic Syndrome, Type 8	Chronic kidney disease, Hypoalbuminemia, Thin glomerular basement membrane, Stage 5 chronic kidne...	OMIM:615244
Alport Syndrome 3A, Autosomal Dominant	Thickened glomerular basement membrane, Nephritis, Nephrocalcinosis, Glomerular basement membrane...	OMIM:104200
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn...	OMIM:603278
Cystinuria	Hematuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis	ORPHA:214
Otosclerosis 7	Otosclerosis, Conductive hearing impairment, Hearing impairment, Progressive hearing impairment, ...	OMIM:611572
Vitamin B12-Responsive Methylmalonic Acidemia	Renal insufficiency, Hyperammonemia	ORPHA:28
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia	OMIM:620366
Diffuse Cutaneous Systemic Sclerosis	Oliguria, Renal insufficiency	ORPHA:220393
Hepatic Veno-Occlusive Disease	Renal insufficiency, Increased total bilirubin	ORPHA:890
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Increased serum pyruvate, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Coenzyme Q10 Deficiency, Primary, 6	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:614650
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Acute kidney injury	ORPHA:2134
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Hyperglycinemia, Renal insufficiency, Hyperamylasemia, Elevated circulating creati...	OMIM:619386
Galloway-Mowat Syndrome 8	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hematuria, P...	OMIM:618349
Nephronophthisis 16	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Patent ductus arteriosus, ...	OMIM:615382
Hyperoxaluria, Primary, Type Ii	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Calcium oxalate nephrolithiasis	OMIM:260000
Nephronophthisis 9	Stage 5 chronic kidney disease, Nephronophthisis, Polyuria, Renal cortical microcysts	OMIM:613824
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E...	OMIM:174000
Glycogen Storage Disease Due To Aldolase A Deficiency	Acute kidney injury, Myoglobinuria, Hyperkalemia, Elevated creatine kinase after exercise	ORPHA:57
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hyperammonemia, Hypoglycemia	ORPHA:664
Hypocalcemia, Autosomal Dominant 1	Nephrocalcinosis, Hyperphosphatemia, Hypomagnesemia, Decreased glomerular filtration rate, Hypoca...	OMIM:601198
Acrorenal Syndrome	Abnormal renal morphology, Renal insufficiency, Renal hypoplasia/aplasia	ORPHA:971
Iga Nephropathy, Susceptibility To, 1	Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematuria	OMIM:161950
Primary Hyperoxaluria Type 2	Nephrocalcinosis, Recurrent urinary tract infections, Ureteral obstruction, Hyperoxaluria, Renal ...	ORPHA:93599
Renal Tubular Acidosis, Proximal	Elevated circulating creatinine concentration, Hypercalciuria, Proximal renal tubular acidosis	OMIM:179830
Joubert Syndrome 4	Abnormal renal medulla morphology, Stage 5 chronic kidney disease, Nephronophthisis, Renal insuff...	OMIM:609583
Microscopic Polyangiitis	Hematuria, Glomerulopathy, Oliguria, Renal insufficiency	ORPHA:727
Thrombotic Thrombocytopenic Purpura	Acute kidney injury, Renal insufficiency, Hematuria, Proteinuria, Decreased serum creatinine	ORPHA:54057
Acute Monoblastic/Monocytic Leukemia	Oliguria	ORPHA:514
Hypomagnesemia 2, Renal	Hypocalciuria, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency, Hypokalemia	OMIM:154020
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level	OMIM:203400
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level	OMIM:610600
Bartter Syndrome, Type 5, Antenatal, Transient	Medullary nephrocalcinosis, Hypokalemia, Hyponatremia, Hypercalciuria, Polyuria, Hypochloremia, I...	OMIM:300971
Nephronophthisis 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Renal cortico...	OMIM:604387
Glycogen Storage Disease Vi	Hyperlipidemia, Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia	OMIM:232700
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Nephrocalcinosis, Renal magnesium wasting, Hypomagnesemia, Renal potassium ...	ORPHA:564178
Fanconi Renotubular Syndrome 1	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperphosphatur...	OMIM:134600
Otosclerosis 11	Absence of acoustic reflex, Otosclerosis, Conductive hearing impairment, Sensorineural hearing im...	OMIM:620576
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula...	OMIM:614455
Hyperuricemic Nephropathy, Familial Juvenile, 3	Hyperuricemia, Abnormal renal insterstitial morphology, Renal insufficiency, Impaired renal conce...	OMIM:614227
Cholera	Acute kidney injury, Abnormal blood ion concentration, Hypocalcemia, Hypokalemia, Hyponatremia, D...	ORPHA:173
Familial Isolated Hyperparathyroidism	Nephrocalcinosis, Renal insufficiency, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Hyper...	ORPHA:99879
Nephrotic Syndrome, Type 1	Hypoalbuminemia, Congenital nephrotic syndrome, Renal insufficiency, Hyperlipidemia, Proteinuria,...	OMIM:256300
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Elevated circulating creatinine concentration, Unilateral renal hypoplasia, ...	ORPHA:49041
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria	OMIM:267430
Thrombotic Thrombocytopenic Purpura, Hereditary	Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria, Increased ...	OMIM:274150
Drug-Induced Lupus Erythematosus	Hematuria, Increased blood urea nitrogen, Elevated circulating C-reactive protein concentration, ...	ORPHA:231111
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal cyst, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:611773
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Elevated circulating creatinine concentration, Stage 5 chroni...	OMIM:613095
Orthostatic Hypotension 1	Hypomagnesemia, Increased blood urea nitrogen, Nocturia, Elevated circulating dihydroxyphenylacet...	OMIM:223360
Type 1 Diabetes Mellitus	Decreased level of 1,5 anhydroglucitol in serum, Polyuria	OMIM:222100
Birk-Landau-Perez Syndrome	Renal hypoplasia, Hyperechogenic kidneys, Stage 3 chronic kidney disease, Renal insufficiency, In...	OMIM:617595
Homozygous 11P15-P14 Deletion Syndrome	Hypoglycemia, Generalized aminoaciduria, Hyperinsulinemia, Renal tubular dysfunction	OMIM:606528
Paternal Uniparental Disomy Of Chromosome 1	Proteinuria, Increased blood urea nitrogen, Membranoproliferative glomerulonephritis, Macroscopic...	ORPHA:251004
Diffuse Neonatal Hemangiomatosis	Hypercalcemia, Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia/aplasia	ORPHA:2123
Otosclerosis 8	Otosclerosis, Hearing impairment	OMIM:612096
Otosclerosis 3	Otosclerosis, Hearing impairment	OMIM:608244
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Hyperuricemia, Renal cortic...	OMIM:603860
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency	ORPHA:254857
Dopamine Beta-Hydroxylase Deficiency	Insulin resistance, Elevated urinary dopamine level, Hypoglycemia, Elevated circulating creatinin...	ORPHA:230
Hereditary Xanthinuria	Hypouricemia, Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, I...	ORPHA:3467
Infection-Related Hemolytic Uremic Syndrome	Acute kidney injury, Oliguria, Anuria, Hypocalcemia, Hyponatremia, Decreased urine output, Nephro...	ORPHA:544482
Megabladder, Congenital	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Multiple glomerular cysts, Patent ductus ...	OMIM:618719
Senior-Loken Syndrome	Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis	ORPHA:3156
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Oliguria, Reversible renal failure	ORPHA:90051
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperkalemia	OMIM:264350
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Renal insufficiency, Hyperuricemia, Hyperuricosuria, Uric acid nephrolithias...	ORPHA:411543
Hyperinsulinemic Hypoglycemia, Familial, 7	Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia	OMIM:610021
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypercholesterolemia, Hypoglycemic seizures, Incr...	OMIM:620211
Duplication Of Urethra	Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli...	ORPHA:237
Nephronophthisis 1	Nephronophthisis, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Renal...	OMIM:256100
Nephronophthisis 4	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubulointerstitia...	OMIM:606966
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Decreased glomerular filtration rate, Stage 5 chronic kidney disease...	OMIM:618061
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Alaninuria, Hypoglycemia	OMIM:615158
Thyrocerebrorenal Syndrome	Nephritis, Renal insufficiency	ORPHA:3327
Preeclampsia	Chronic kidney disease, Acute kidney injury, Type I diabetes mellitus, Elevated circulating creat...	ORPHA:275555
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Lujo Hemorrhagic Fever	Elevated circulating C-reactive protein concentration, Microscopic hematuria, Oliguria, Renal ins...	ORPHA:319213
Genetic Steroid-Resistant Nephrotic Syndrome	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy...	ORPHA:656
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hyperamylasemia, Bicarbonate-wasting renal tubular acidosis, Hypokalemia, Proximal renal tubular ...	OMIM:604278
Liddle Syndrome 1	Hypokalemia, Renal insufficiency, Decreased circulating renin level	OMIM:177200
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Generalized aminoaciduria, Proximal tubulopathy, Glycosuria, Decreased g...	OMIM:613388
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia	OMIM:602722
Renal Tubular Acidosis Iii	Hypokalemia, Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Isobutyryl-Coa Dehydrogenase Deficiency	Elevated circulating acylcarnitine concentration, Ketotic hypoglycemia, Decreased circulating car...	ORPHA:79159
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec...	ORPHA:730
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Renal sodium wasting, Increased circulating renin level	ORPHA:556037
Multiple Synostoses Syndrome 4	Tarsal synostosis, Otosclerosis	OMIM:617898
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Proximal tubulopathy, Increased serum prostaglandin E2, Hypokalemia, Abnormal magnesium concentra...	OMIM:241150
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu...	OMIM:610805
Renal Glucosuria	Enuresis nocturna, Glycosuria, Polyuria	OMIM:233100
Neonatal Hemochromatosis	Abnormal localization of kidney, Increased circulating iron concentration, Hypoglycemia, Increase...	ORPHA:446
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hyperbilirubinemia, Elevated circulating creatinine concentration, Acute kidney injury, Decreased...	ORPHA:542323
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Oliguria, Recurrent urinary tract infections, Reduced renal corticomedullary...	ORPHA:731
Dent Disease 1	Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Nephrocalcinosis, Proximal tubulo...	OMIM:300009
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Renal salt wasting, Hyperkalemia	OMIM:614736
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Renal sodium wasting, Increased circulating renin level	ORPHA:556030
Alport Syndrome 2, Autosomal Recessive	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:203780
Otosclerosis 1	Otosclerosis, Conductive hearing impairment	OMIM:166800
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Abnormal renal corticomedullary differentiation, R...	OMIM:616733
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu...	OMIM:614377
Aneurysm Of Sinus Of Valsalva	Oliguria	ORPHA:1054
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron...	OMIM:191800
Bardet-Biedl Syndrome 19	Hydronephrosis, Renal hypoplasia, Renal insufficiency, Patent ductus arteriosus	OMIM:615996
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hypokalemia, Hyponatr...	ORPHA:90038
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Glomerulomegaly, Bilateral renal hypoplas...	ORPHA:2260
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Glomerulonep...	OMIM:613496
Exercise-Induced Malignant Hyperthermia	Acute kidney injury, Oliguria, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kin...	ORPHA:466650
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Glomerular sclerosis, Increased blood urea nitroge...	OMIM:223900
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, ...	OMIM:614376
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Chronic kidney disease, Nephrocalcinosis, Renal magnesium wasting, Recurrent urinary tract infect...	OMIM:248190
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Senior-Loken Syndrome 3	Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis	OMIM:606995
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Renal insufficiency, Incr...	OMIM:613090
Acquired Ichthyosis	Renal insufficiency	ORPHA:454
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Ureteropelvic junction obstruction, Hydronephrosis...	OMIM:154230
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Elevated circulating sebacic acid concentration, Elevated circulating suberic acid concentration,...	OMIM:615160
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,...	OMIM:618913
Fanconi Anemia, Complementation Group O	Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydronephrosis, Renal cyst, Mis...	OMIM:613390
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Hyperammonemia, Renal tubular dysfunction	ORPHA:289916
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-mole...	OMIM:300554
Distal 16P11.2 Microdeletion Syndrome	Chronic kidney disease, Renal agenesis, Vesicoureteral reflux, Hyperuricemia, Proteinuria, Abnorm...	ORPHA:261222
Dent Disease	Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri...	ORPHA:1652
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, IgA depos...	OMIM:616730
Glucose-Galactose Malabsorption	Renal insufficiency, Nephrolithiasis, Hematuria, Hypercalcemia, Hypernatremia	ORPHA:35710
Retinitis Pigmentosa 59	Micropenis, Renal insufficiency	OMIM:613861
Nephronophthisis 18	Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Tubuloi...	OMIM:615862
Aa Amyloidosis	Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma...	ORPHA:85445
Nephrolithiasis, Calcium Oxalate, 1	Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperoxaluria, Ureteropelvic junction obstr...	OMIM:167030
Ethylene Glycol Poisoning	Renal insufficiency, Hypocalcemia, Renal tubular dysfunction, Hematuria, Decreased urine output, ...	ORPHA:31826
Alg1-Cdg	Hypoalbuminemia, Nephrotic syndrome, Renal insufficiency, Abnormality of the kidney	ORPHA:79327
Immunoneurologic Disorder, X-Linked	Functional abnormality of the bladder, Neonatal death	OMIM:300076
Renal Cysts And Diabetes Syndrome	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Maturity-onset diabetes of the young, El...	OMIM:137920
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Death in childhood, Neonatal death...	OMIM:614922
Juvenile Nephropathic Cystinosis	Hypouricemia, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Proximal tubulopath...	ORPHA:411634
Aapoaiv Amyloidosis	Chronic kidney disease, Renal amyloidosis, Elevated circulating creatinine concentration, Hyperli...	ORPHA:439232
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypoglycemia, Hyperphosphaturia, Prote...	OMIM:616026
Anti-Glomerular Basement Membrane Disease	Proteinuria, Hematuria, Glomerulopathy, Renal insufficiency	ORPHA:375
Multiple Synostoses Syndrome 1	Bilateral conductive hearing impairment, Conductive hearing impairment, Stapes ankylosis, Carpal ...	OMIM:186500
Bartter Syndrome, Type 3	Nephrocalcinosis, Hyperchloriduria, Hypocalciuria, Increased urinary potassium, Impaired renal tu...	OMIM:607364
Familial Hypoaldosteronism	Hyponatremia, Decreased urinary potassium, Proximal renal tubular acidosis, Renal salt wasting, H...	ORPHA:427
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Nephrocalcinosis, Distal renal tubular acidosis, Hypokalemia	OMIM:611590
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Unilateral renal agenesis, Renal hypoplasia, Patent ductus arteriosus	OMIM:617661
Familial Mediterranean Fever, Autosomal Dominant	Proteinuria, Renal amyloidosis, Renal insufficiency	OMIM:134610
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 5 ch...	OMIM:617731
Muckle-Wells Syndrome	Elevated circulating C-reactive protein concentration, Renal amyloidosis, Renal insufficiency	OMIM:191900
Otosclerosis 4	Mixed hearing impairment, Otosclerosis	OMIM:611571
Alagille Syndrome 2	Renal hypoplasia, Renal insufficiency, Renal tubular acidosis, Proteinuria, Renal cyst, Hematuria	OMIM:610205
Jeune Syndrome	Nephropathy, Nephronophthisis, Renal insufficiency	ORPHA:474
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Low-set ears, Radioulnar synostosis, Enamel agenesis, Stapes ankylosis	OMIM:614701
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Hypocystinemia	OMIM:617744
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hypoglycemia, Hyperlipidemia, Hyperuricemia	ORPHA:364
Riboflavin Deficiency	Elevated circulating acylcarnitine concentration, Hypoglycemia, Dicarboxylic aciduria	OMIM:615026
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Renal insufficiency, Decreased circulating renin level, Hypokalemia, Abnormal u...	ORPHA:320
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Chronic kidney disease, Renal tubular acidosis, 3-Methylglutaconic aciduria, Elevated circulating...	ORPHA:324525
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephro...	OMIM:600740
Frasier Syndrome	Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease	OMIM:136680
Helix Syndrome	Hypermagnesemia, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Hypokalemia, Polyuria	OMIM:617671
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu...	OMIM:602522
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hypoornithinemia, Elevated urine acetoacetic acid level, Elevated urine suberic acid level, Eleva...	OMIM:615751
Multicentric Carpotarsal Osteolysis Syndrome	Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency	OMIM:166300
Immunodeficiency 91 And Hyperinflammation	Renal insufficiency, Death in childhood, Death in infancy, Membranoproliferative glomerulonephrit...	OMIM:619644
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Glomerular bas...	OMIM:609057
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial	Renal steatosis, Impaired gluconeogenesis, Hypoglycemia	OMIM:261650
Primary Hyperoxaluria Type 1	Nephrocalcinosis, Enuresis, Recurrent urinary tract infections, Decreased glomerular filtration r...	ORPHA:93598
Hypomagnesemia 3, Renal	Chronic kidney disease, Hyperphosphatemia, Hematuria, Macroscopic hematuria, Abnormal circulating...	OMIM:248250
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Prolinuria, Hydroxyprolinuria, Hyperglycinemia...	ORPHA:79101
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Hypercalciuria, Polyuria, Decreased circulating renin level	OMIM:613677
Laurence-Moon Syndrome	Hypoplasia of penis, Renal insufficiency, Displacement of the urethral meatus	ORPHA:2377
Cystinosis	Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Proteinuria, Hypokale...	ORPHA:213
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Hyperprolinemia, Hyperalaninemia, Lacticaciduria, Elevated urinary 4-hydroxybutyr...	OMIM:619003
Galloway-Mowat Syndrome 2, X-Linked	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis...	OMIM:301006
Otosclerosis 10	Otosclerosis	OMIM:615589
Amelogenesis Imperfecta, Type Ig	Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Polyuria, Enuresis	OMIM:204690
Frasier Syndrome	Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa...	ORPHA:347
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Dark urine, Elevated...	ORPHA:368
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated circulating creatinine concentration, Myoglobinuria, Elevated circulating creatine kinas...	OMIM:620138
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypernatremia, Polyuria, Megacystis	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypernatremia, Polyuria, Megacystis	OMIM:304800
Blue Diaper Syndrome	Nephrocalcinosis, Increased proinsulin:insulin ratio, Hyperphosphatemia, Recurrent hypoglycemia, ...	ORPHA:94086
Nephronophthisis 11	Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal...	OMIM:613550
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Retrognathia, Delayed erup...	ORPHA:798
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos...	ORPHA:223
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hypoglycemia, Increased total bilirubin, Renal dysplasia, Elevated circulating creatinine concent...	OMIM:608836
Reni Syndrome	Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ...	OMIM:617575
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Hyperammonemia	ORPHA:79312
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Elevate...	OMIM:120330
Amyloidosis, Finnish Type	Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic syndrome, Renal glom...	OMIM:105120
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated creatine kinase aft...	ORPHA:423
Alport Syndrome	Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular...	ORPHA:63
Primary Hyperoxaluria Type 3	Nephrocalcinosis, Abnormal renal physiology, Hyperoxaluria, Hematuria, Abnormality of urine homeo...	ORPHA:93600
Prune Belly Syndrome	Multicystic kidney dysplasia, Hydroureter, Recurrent urinary tract infections, Abnormality of the...	ORPHA:2970
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria, Hypercalcemia, Eleva...	ORPHA:284426
Syndromic Recessive X-Linked Ichthyosis	Unilateral renal agenesis, Renal insufficiency	ORPHA:281090
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Postprandial hyperglycemia, Ketonuria, Glycosuria, Hyperlipidemia, Ketotic hypoglycemia	ORPHA:2089
2P21 Microdeletion Syndrome	Cystinuria, Hypocalcemia, Hypoglycemia, Nephrolithiasis	ORPHA:163693
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Hypoglycemia, Hyperammonemia, 3-Methylglutaconic aciduria, Elevated circulating creatine kinase c...	OMIM:618120
Glycogen Storage Disease Ixa1	Hypoglycemia, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia	OMIM:306000
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency	OMIM:173900
Myh9-Related Disease	Nephropathy, Nephritis, Renal insufficiency, Proteinuria	ORPHA:182050
Coach Syndrome 2	Elevated circulating creatinine concentration, Hyperechogenic kidneys	OMIM:619111
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia, Polyuria, Nephrolithiasis	OMIM:617994
Primary Fanconi Renotubular Syndrome	Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Hypouricemia, Decreas...	ORPHA:3337
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Renal cortical hyperechogenicity, Anuria, Megacystis, Pyelonephritis, Patent ductus arteriosus, F...	OMIM:619351
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Myoglobinuria, Hyperbilirubinemia, Renal insufficiency	ORPHA:713
Osteogenesis Imperfecta, Type Iv	Dentinogenesis imperfecta, Otosclerosis, Wormian bones, Hearing impairment	OMIM:166220
Vitamin B12-Unresponsive Methylmalonic Acidemia	Renal insufficiency, Hyperammonemia	ORPHA:27
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephropathy, Hypospadias, Renal insufficiency, Nephroblastoma	OMIM:194072
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Coronal craniosynostosis, Hypoplasia of the maxilla, Conductive hear...	OMIM:614188
Hereditary Amyloidosis With Primary Renal Involvement	Nephropathy, Abnormal urinary electrolyte concentration, Decreased HDL cholesterol concentration,...	ORPHA:85450
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome	Carious teeth, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Abn...	ORPHA:3145
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria	ORPHA:859
Treacher Collins Syndrome 2	Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of the zygomatic bone,...	OMIM:613717
Nephronophthisis 19	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Nephronophthisis, Hyperechogenic kid...	OMIM:616217
Relapsing Fever	Acute kidney injury, Abnormality of the urinary system, Increased total bilirubin, Elevated circu...	ORPHA:91547
Pauci-Immune Glomerulonephritis	Acute kidney injury, Elevated circulating creatinine concentration, Decreased glomerular filtrati...	ORPHA:93126
Cerebral Creatine Deficiency Syndrome 2	Elevated circulating guanidinoacetic acid concentration, Decreased serum creatinine	OMIM:612736
Neuroleptic Malignant Syndrome	Acute kidney injury, Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated cir...	ORPHA:94093
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency, Hypocalcemia	ORPHA:1563
Leiomyomatosis, Diffuse, With Alport Syndrome	Nephropathy, Thickened glomerular basement membrane, Glomerular basement membrane lamellation, St...	OMIM:308940
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Death in adolescence, Proximal tubulopathy, Polyuria, Death in childhood	OMIM:560000
Paroxysmal Nocturnal Hemoglobinuria	Chronic kidney disease, Decreased circulating iron concentration, Acute kidney injury, Glycosuria...	ORPHA:447
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Elevated circulating acylcarnitine concentration, Red-brown urine, Dicarboxylic aciduria, Decreas...	ORPHA:228308
Hyperkalemic Periodic Paralysis	Death in early adulthood, Death in infancy, Elevated circulating creatine kinase concentration, H...	ORPHA:682
Phosphoglycerate Kinase 1 Deficiency	Exercise-induced myoglobinuria, Renal insufficiency	OMIM:300653
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Xanthinuria, Type I	Hypouricemia, Pyelonephritis, Xanthine nephrolithiasis, Hydronephrosis, Xanthinuria, Hyperxanthin...	OMIM:278300
Pyruvate Carboxylase Deficiency	Increased serum pyruvate, Hyperalaninemia, Hypoglycemia, Proximal renal tubular acidosis	OMIM:266150
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Xq21 Microdeletion Syndrome	Dilatated internal auditory canal, Conductive hearing impairment, Stapes ankylosis, Renal artery ...	ORPHA:1435
Galloway-Mowat Syndrome 4	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome...	OMIM:617730
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Death in infancy, Ectopic kidney, Cystic renal dysplasia, Neonatal death	OMIM:613730
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Monocarboxylate Transporter 1 Deficiency	Ketotic hypoglycemia, Ketonuria	OMIM:616095
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Neonatal death...	OMIM:263200
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Nephropathy, Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal insufficiency, Proteinuri...	OMIM:254900
Fanconi-Bickel Syndrome	Hypouricemia, Generalized aminoaciduria, Ketonuria, Glycosuria, Beta 2-microglobulinuria, Hyperbi...	OMIM:227810
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom...	OMIM:618348
Diffuse Alveolar Hemorrhage	Hematuria, Elevated circulating creatinine concentration, Proteinuria	ORPHA:90060
Acute Adrenal Insufficiency	Renal insufficiency, Hyperuricemia, Hyponatremia, Decreased urinary potassium, Renal salt wasting...	ORPHA:95409
Bor Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction ...	ORPHA:107
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypocalciuria, Enuresis, Hypomagnesemia, Renal sodium wasting, Hypokalemia, Polyuria, Renal salt ...	OMIM:612780
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag...	OMIM:301050
Mody	Nephropathy, Abnormal oral glucose tolerance, Glycosuria, Insulin-resistant diabetes mellitus, Hy...	ORPHA:552
Imerslund-Grasbeck Syndrome 2	Proteinuria, Moderate albuminuria, Renal insufficiency, Recurrent urinary tract infections	OMIM:618882
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Death in childhood, Hyperalaninemia, Increased serum pyruvate, Mild proteinuria	OMIM:619147
Cockayne Syndrome Type 1	Proteinuria, Renal insufficiency, Increased blood urea nitrogen	ORPHA:90321
Pseudo-Torch Syndrome 3	Proteinuria, Acute kidney injury, Death in infancy, Increased circulating ferritin concentration	OMIM:618886
Galloway-Mowat Syndrome 10	Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ...	OMIM:619609
Glycogen Storage Disease Ixb	Hypoglycemia, Hyperuricemia	OMIM:261750
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Decreased urinary potassium, Reduced circulating cortisol-binding globulin concentra...	OMIM:611489
Osteogenesis Imperfecta, Type I	Dentinogenesis imperfecta, Otosclerosis, Wormian bones, Hearing impairment	OMIM:166200
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
East Syndrome	Abnormal urinary electrolyte concentration, Renal magnesium wasting, Hypomagnesemia, Renal sodium...	ORPHA:199343
Treacher Collins Syndrome 3	Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, ...	OMIM:248390
Ventriculomegaly With Cystic Kidney Disease	Renal corticomedullary cysts, Renal insufficiency, Tubular luminal dilatation, Hyperechogenic kid...	OMIM:219730
Familial Glucocorticoid Deficiency	Hypernatriuria, Recurrent urinary tract infections, Hyponatremia, Renal salt wasting, Hyperkalemia	ORPHA:361
Mirage Syndrome	Microphallus, Recurrent urinary tract infections, Hyponatremia, Hyperkalemia, Hypospadias, Patent...	OMIM:617053
Babesiosis	Renal insufficiency	ORPHA:108
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co...	OMIM:619355
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Hyperphosphaturia, Hypophosphatemia, Hypercalciuria, Polyuria, Calcinosis, Hyperca...	OMIM:239200
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Chronic kidney disease, Thickened glomerular basement membrane, Nephrocalcinosis, Unilateral rena...	OMIM:146255
Maternal Uniparental Disomy Of Chromosome 2	Elevated amniotic fluid alpha-fetoprotein, Renal insufficiency, Chordee, Hypospadias, Renal dyspl...	ORPHA:96179
Rhyns Syndrome	Chronic kidney disease, Nephronophthisis, Renal insufficiency	OMIM:602152
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Bartter Syndrome Type 4	Chronic kidney disease, Acute kidney injury, Nephrocalcinosis, Hypomagnesemia, Stage 5 chronic ki...	ORPHA:89938
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Death in infancy, Hyponatremia, Polyuria, Hypertri...	OMIM:618183
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Ketonuria, Elevated urinary 3-methylcrotonylglycine level, Hypoglycemia, Acute hyperammonemia, 3-...	OMIM:210200
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Complement Factor I Deficiency	Pyelonephritis, Renal insufficiency, Glomerulonephritis, Recurrent urinary tract infections	OMIM:610984
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia	OMIM:141000
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy...	ORPHA:567546
Calciphylaxis	Stage 5 chronic kidney disease, Hyperphosphatemia	ORPHA:280062
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Bardet-Biedl Syndrome 17	Micropenis, Renal cyst, Stage 5 chronic kidney disease, Polyuria	OMIM:615994
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Hyperechogenic kidneys, Elevated circulating creatinine concentration, Reduced haptoglobin level,...	OMIM:301110
Bartter Syndrome, Type 1, Antenatal	Nephrocalcinosis, Hyperchloriduria, Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased...	OMIM:601678
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Renal insuff...	ORPHA:93111
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Penoscrotal hypospadias, Renal salt wasting, Hyperkalemia, Hypospadias, Increased c...	ORPHA:90791
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Postprandial hyperglycemia, Long penis, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperg...	OMIM:262190
Renal Agenesis	Unilateral renal agenesis, Renal agenesis, Bilateral renal agenesis, Ureteral agenesis, Renal ins...	ORPHA:411709
Orthostatic Hypotension 2	Decreased glomerular filtration rate, Hypoglycemia	OMIM:618182
Teratoma, Pineal	Polyuria	OMIM:273120
Hypoadrenocorticism, Familial	Hyponatremia, Hyperkalemia	OMIM:240200
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Renal insufficiency	OMIM:247410
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin	OMIM:618528
Wolcott-Rallison Syndrome	Chronic kidney disease, Hypoalbuminemia, Hyperbilirubinemia, Renal insufficiency, Hyperammonemia,...	ORPHA:1667
Severe Acute Respiratory Syndrome	Acute kidney injury	ORPHA:140896
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hematuria, Hypophosphatemia, Aminoaciduria, Genera...	OMIM:219800
Hereditary Fructose Intolerance	Chronic kidney disease, Hypermagnesemia, Renal insufficiency, Hyperuricemia, Hypophosphatemia	ORPHA:469
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Nephrocalcinosis, Hyperphosphatemia, Decreased renal tubular phosphate excretion, Increased renal...	OMIM:211900
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating acylcarnitine concentration, Red-brown urine, Stage 5 chronic kidney disease...	ORPHA:157
Caudal Regression Syndrome	Renal agenesis, Abnormality of the ureter, Renal insufficiency, Vesicoureteral reflux, Ureteral d...	ORPHA:3027
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:616629
Goodpasture Syndrome	Glomerular crescent formation, Erythrocyte cylindruria, Renal insufficiency, Cylindruria, Protein...	OMIM:233450
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Urinary retention, Hypomagnesemia, Decreased urinary potassium, Transient h...	ORPHA:79102
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Yellow Fever	Acute kidney injury, Anuria, Elevated circulating creatinine concentration, Hyperbilirubinemia, R...	ORPHA:99829
Senior-Boichis Syndrome	Chronic kidney disease, Renal hypoplasia, Abnormal urinary electrolyte concentration, Hyperechoge...	ORPHA:84081
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal hypoplasia, Renal insufficiency, Hypoplasia of penis, Renal dysplasia	ORPHA:85321
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Microphallus, Hyponatremia, Penoscrotal hypospadias, Micropenis, Perineal hypospadias, Hyperkalem...	OMIM:201810
Enamel-Renal Syndrome	Nephropathy, Nephrocalcinosis, Hypocalciuria, Hypophosphaturia, Renal insufficiency, Impaired ren...	ORPHA:1031
Phosphoribosylpyrophosphate Synthetase Superactivity	Urolithiasis, Renal insufficiency, Death in childhood, Hyperuricemia, Hyperuricosuria, Uric acid ...	OMIM:300661
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611560
Gitelman Syndrome	Hypocalciuria, Enuresis, Renal magnesium wasting, Hypomagnesemia, Hypokalemia, Polyuria, Nocturia...	OMIM:263800
Congenital Disorder Of Glycosylation, Type Ih	Hypoalbuminemia, Elevated circulating creatinine concentration	OMIM:608104
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Vesicoureteral reflux, Renal insufficiency, Hypocalcemia, Hydronephros...	ORPHA:2237
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Membranous nephropathy, Eleva...	OMIM:615559
Variant Abeta2M Amyloidosis	Chronic kidney disease, Renal amyloidosis	ORPHA:314652
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Ketonuria, Hypoglycemia, Low plasma citrulline, Renal steatosis, Fasting hypoglycemia, Impaired g...	OMIM:261680
Maple Syrup Urine Disease, Type Ia	Elevated circulating branched chain amino acid concentration, Increased level of hippuric acid in...	OMIM:248600
Bardet-Biedl Syndrome 9	Renal insufficiency	OMIM:615986
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Hyperglycinuria, Decreased circulating carnitine concentration, Ketonuria, Organic aciduria, Hypo...	OMIM:210210
Distal Limb Deficiencies-Micrognathia Syndrome	Proteinuria, Renal hypoplasia, Renal insufficiency	ORPHA:1307
Structural Heart Defects And Renal Anomalies Syndrome	Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency, Death in infancy	OMIM:617478
Mullegama-Klein-Martinez Syndrome	Low-set ears, Atresia of the external auditory canal, Absent stapes, Micrognathia, Sensorineural ...	OMIM:301022
Generalized Pustular Psoriasis	Hypoalbuminemia, Renal insufficiency, Hypocalcemia, Hyponatremia, Elevated circulating C-reactive...	ORPHA:247353
Cryoglobulinemic Vasculitis	Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:91138
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Organic aciduria, Hypomagnesemia, Stage 3 chronic kidney disease, Medullary...	OMIM:619743
17Q24.2 Microdeletion Syndrome	Otosclerosis, Abnormality of the ankle, Recurrent otitis media, Abnormality of the wrist, Microgn...	ORPHA:529962
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Hyperglycinuria, Decreased circulating carnitine concentration, Hypoglycemia, Medium chain dicarb...	OMIM:201450
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Mitochondrial Trifunctional Protein Deficiency 2	Hyperammonemia, Death in infancy, Elevated circulating creatine kinase concentration, Neonatal de...	OMIM:620300
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Nephronophthisis, Hyperechogenic kidneys, Stage 5 chron...	OMIM:613159
Tyrosinemia, Type I	Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypophosphatemic ri...	OMIM:276700
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Hyperechogenic kidneys, Horseshoe ki...	OMIM:617641
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Infantile Nephropathic Cystinosis	Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal tubular dys...	ORPHA:411629
Mercury Poisoning	Hypokalemia, Acute kidney injury	ORPHA:330021
Wild Type Attr Amyloidosis	Nephropathy, Nephrotic syndrome, Renal insufficiency, Proteinuria	ORPHA:330001
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Renal insufficiency, Ureterocele, Renal hypoplasia/aplasia	ORPHA:261265
Glycogen Storage Disease Ic	Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Renal insufficiency, Hy...	OMIM:232240
Meningococcal Meningitis	Elevated circulating C-reactive protein concentration, Renal insufficiency	ORPHA:33475
Infantile Liver Failure Syndrome 2	Hyperammonemia, Hypoglycemia	OMIM:616483
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Nephropathy, Homocystinuria, Acute kidney injury, Cystathioninemia, Methylmalonic aciduria, Cysta...	OMIM:277400
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Senior-Loken Syndrome 8	Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn...	OMIM:616307
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease	OMIM:613819
Snakebite Envenomation	Hyponatremia, Acute kidney injury	ORPHA:449285
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Abnormal ur...	ORPHA:168558
Legionnaires Disease	Hematuria, Proteinuria, Hyponatremia, Renal insufficiency	ORPHA:549
Hyperoxaluria, Primary, Type I	Nephrocalcinosis, Hyperoxaluria, Renal insufficiency, Hematuria, Elevated urinary glycolic acid l...	OMIM:259900
3-Methylglutaconic Aciduria Type 7	Renal cyst, Nephrocalcinosis, Renal insufficiency, 3-Methylglutaconic aciduria	ORPHA:445038
Congenital Disorder Of Glycosylation, Type Iit	Decreased serum creatinine, Urinary incontinence, Hypotriglyceridemia, Decreased HDL cholesterol ...	OMIM:618885
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic aciduria, Stage 5 chronic kidney disease, Hyperglycinemia, Hyperammonemia, Tubuloin...	OMIM:251000
Bartter Syndrome, Type 2, Antenatal	Nephrocalcinosis, Hyperchloriduria, Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased...	OMIM:241200
Acute Intermittent Porphyria	Urinary retention, Dark urine, Increased urinary porphobilinogen, Renal insufficiency, Hyponatrem...	ORPHA:79276
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Abnormal circulating cholesterol concentration, Hypernatriuria, Abnormal ur...	ORPHA:289548
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Nephronophthisis	OMIM:615630
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Porphyria Variegata	Chronic kidney disease, Increased urinary porphobilinogen, Abnormal circulating porphyrin concent...	ORPHA:79473
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Hypoalbuminemia, Recurrent urinary tract infections, Hype...	OMIM:619487
Denys-Drash Syndrome	Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ...	OMIM:194080
Renal-Hepatic-Pancreatic Dysplasia 1	Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Ureteral atresia, Neonatal ...	OMIM:208540
Joubert Syndrome 9	Stage 5 chronic kidney disease	OMIM:612285
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Renal insufficiency, Death in infancy, Proteinuria, Renal cyst...	OMIM:208500
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Multiple Myeloma	Nephropathy, Acute kidney injury, Elevated circulating creatinine concentration, Nephrotic syndro...	ORPHA:29073
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Chronic kidney disease, Renal insufficiency, Abnormal renal glomerulus morphology, Membranoprolif...	OMIM:137940
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Hyperlipi...	OMIM:232200
Rhizomelic Limb Shortening With Dysmorphic Features	Stage 1 chronic kidney disease	OMIM:618821
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level, Nephrolithiasis	OMIM:615474
Primary Hyperoxaluria	Chronic kidney disease, Aciduria, Nephrocalcinosis, Elevated urine glycolate, Stage 5 chronic kid...	ORPHA:416
Lamellar Ichthyosis	Renal insufficiency	ORPHA:313
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria, Neonatal death	OMIM:602199
Pediatric Systemic Lupus Erythematosus	Nephritis, Abnormality of the urinary system, Dark urine, Renal insufficiency, Hematuria, Protein...	ORPHA:93552
Boutonneuse Fever	Renal insufficiency	ORPHA:83313
Igg4-Related Kidney Disease	Chronic kidney disease, Acute kidney injury, Decreased retinol-binding protein level, Urinary bla...	ORPHA:449395
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Decreased circulating carnitine concentration, Keto...	OMIM:246450
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Hypocalcemia, Hydroneph...	OMIM:617913
Severe Oculo-Renal-Cerebellar Syndrome	Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:2715
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:99880
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Nephropathy, Elevated circulating creatinine concentration, Glomerular sclerosis, Proteinuria	ORPHA:247691
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Hyperglycemia, Ketonuria, Hyperammonemia, Hypoglycemia	OMIM:615453
Hypocomplementemic Urticarial Vasculitis	Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:36412
Proximal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypernatriuria, Low-molecular-weight proteinuria, Bi...	ORPHA:47159
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Elevated urinary 3-hydroxybutyric acid, Ketonuria, H...	OMIM:605911
Xfe Progeroid Syndrome	Proteinuria, Death in adolescence, Renal insufficiency, Hypoalbuminemia	OMIM:610965
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Addison Disease	Hyperuricemia, Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Hyper...	ORPHA:85138
Al Amyloidosis	Hypoalbuminemia, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Increased...	ORPHA:85443
Methylmalonic Aciduria, Cblb Type	Ketonuria, Methylmalonic aciduria, Hypoglycemia, Elevated circulating propionylcarnitine concentr...	OMIM:251110
Parathyroid Carcinoma	Nephrocalcinosis, Renal hamartoma, Renal insufficiency, Nephroblastoma, Nephrolithiasis, Renal cy...	ORPHA:143
Lysosomal Acid Lipase Deficiency	Hypernatriuria, Abnormal urine potassium concentration, Hyponatremia, Hypercholesterolemia, Hyper...	ORPHA:275761
Hand-Foot-Genital Syndrome	Pyelonephritis, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction obstruction, C...	OMIM:140000
Scrub Typhus	Renal insufficiency	ORPHA:83317
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria, Patent ductus arteriosus	ORPHA:86818
Avian Influenza	Hypoalbuminemia, Acute kidney injury, Elevated circulating creatine kinase concentration, Elevate...	ORPHA:454836
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Nephrolithiasis	ORPHA:369929
Generalized Arterial Calcification Of Infancy	Nephrocalcinosis, Conductive hearing impairment, Hearing impairment, Stapes ankylosis, Cortical n...	ORPHA:51608
Familial Hyperaldosteronism Type Iii	Hypokalemia, Hypercalciuria	ORPHA:251274
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinu...	OMIM:242900
Castleman Disease	Hematuria, Ureteral obstruction, Renal insufficiency, Elevated circulating C-reactive protein con...	ORPHA:160
Acute Interstitial Pneumonia	Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentration	ORPHA:79126
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Chronic kidney disease, Decreased glomerular filtration rate, Proteinuria, Tubulointerstitial nep...	ORPHA:488627
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Increased urinary potassium, Decreased circulating renin level	ORPHA:231580
Galloway-Mowat Syndrome 9	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis	OMIM:619603
Tafro Syndrome	Elevated circulating C-reactive protein concentration, Renal insufficiency	ORPHA:457077
Simple Cryoglobulinemia	Nephritis, Renal insufficiency, Mesangial hypercellularity, Proteinuria, Membranoproliferative gl...	ORPHA:91139
Pseudo-Torch Syndrome 1	Renal insufficiency, Patent ductus arteriosus	OMIM:251290
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Recurrent urinary tract infections, Elevated circulating creatinine concentratio...	ORPHA:36234
Mitochondrial Complex I Deficiency, Nuclear Type 29	Stage 5 chronic kidney disease, Hyperalaninemia, Lacticaciduria	OMIM:618250
Fabry Disease	Proteinuria, Urinary mulberry cells, Lipiduria, Renal insufficiency	OMIM:301500
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney	ORPHA:1764
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Hypoglycemia, Elevated circulating alpha-fetoprote...	OMIM:617049
Lead Poisoning	Chronic kidney disease, Increased LDL cholesterol concentration, Renal tubular dysfunction, Decre...	ORPHA:330015
Sifrim-Hitz-Weiss Syndrome	Micropenis, Vesicoureteral reflux, Renal insufficiency, Patent ductus arteriosus	OMIM:617159
Feingold Syndrome Type 1	Nephritis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Patent d...	ORPHA:391641
Drug Reaction With Eosinophilia And Systemic Symptoms	Tubulointerstitial nephritis, Nephrotic syndrome, Renal insufficiency	ORPHA:139402
Arima Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Renal sodium wasting, Hematuria, Proteinuria, R...	OMIM:243910
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency	ORPHA:2318
Refsum Disease	Renal insufficiency	ORPHA:773
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Increased urinary potassium, Decreased circulating renin level	ORPHA:231625
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency	ORPHA:220497
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydronephrosis, Neonatal death, Hydroureter, Fetal megacystis	OMIM:619362
Congenital Disorder Of Glycosylation, Type Iig	Hydronephrosis, Hypospadias, Renal insufficiency, Hemolytic-uremic syndrome	OMIM:611209
Isolated Sedoheptulokinase Deficiency	Abnormal renal tubule morphology, Renal insufficiency	ORPHA:440713
Osteootohepatoenteric Syndrome	Grade II vesicoureteral reflux, Proteinuria, Hypokalemia, Increased serum bile acid concentration	OMIM:619377
Porphyria Cutanea Tarda	Increased circulating iron concentration, Increased circulating ferritin concentration, Stage 5 c...	ORPHA:101330
Toluene Embryopathy	Low-set ears, Hypoplasia of the zygomatic bone, Micrognathia, Protruding ear, Hydronephrosis	ORPHA:1920
Nager Syndrome	Unilateral renal agenesis, Hypoplasia of the maxilla, Atresia of the external auditory canal, Hea...	ORPHA:245
Exstrophy-Epispadias Complex	Penoscrotal transposition, Renal hypoplasia, Renal dysplasia, Horseshoe kidney, Abnormality of th...	ORPHA:322
Joubert Syndrome 6	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Distal 17P13.1 Microdeletion Syndrome	Retrognathia, Hypoplasia of the zygomatic bone, Limited elbow movement, Protruding ear, Limitatio...	ORPHA:319171
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Long penis, Hyperkalemia, Hypernatriuria, Hyponatremia, Urogenital sinus anomaly, Renal salt wast...	ORPHA:90794
Galloway-Mowat Syndrome 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal insufficiency, Proteinuria, Diffuse me...	OMIM:251300
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal agenesis, Horseshoe kidney, Vesicoureteral reflux, Renal insufficiency, Ectopic kidney	ORPHA:140952
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Nephrolithiasis	OMIM:219090
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Low-set ears, Hypoplasia of the zygomatic bone, Genu valgum, Protruding ear, Cubitus valgus, Mand...	ORPHA:1778
Kleefstra Syndrome	Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, Renal cyst, Micropenis, Hypoplasia of...	ORPHA:261494
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Eosinophilic Granulomatosis With Polyangiitis	Renal insufficiency, Hematuria, Proteinuria, Glomerulopathy, Tubulointerstitial nephritis	ORPHA:183
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Focal segmental glomerulosclerosis, Hypoalbuminemia, Decreased glomerular filtration rate, Renal ...	OMIM:614748
Nail-Patella Syndrome	Renal insufficiency, Hematuria, Proteinuria, Glomerulonephritis, Nephrotic syndrome	OMIM:161200
Systemic Sclerosis	Chronic kidney disease, Acute kidney injury, Renal insufficiency, Elevated circulating creatine k...	ORPHA:90291
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ketonuria, Methylmalonic aciduria, Elevated circulating palmitoleylcarnitine concentration, Renal...	ORPHA:79282
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Vesicoureteral reflux, Renal insufficiency	ORPHA:96147
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Carious teeth, Hypoplasia of the zygomatic bone, Low-set, posteriorly rotated ears, Mandibular pr...	ORPHA:1110
Flat Face-Microstomia-Ear Anomaly Syndrome	Aplasia/Hypoplasia of the earlobes, Hypoplasia of the zygomatic bone, Camptodactyly of finger, Lo...	ORPHA:1968
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Stage 5 chroni...	OMIM:216360
Schimke Immuno-Osseous Dysplasia	Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Stage 5 chron...	ORPHA:1830
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Histidinemia	Histidinuria, Elevated urinary N-tau-ribosylhistidine level, Hyperhistidinemia	OMIM:235800
Joubert Syndrome 2	Renal cyst, Nephronophthisis, Renal insufficiency	OMIM:608091
Familial Pseudohyperkalemia	Hyperkalemia	ORPHA:90044
Sacral Agenesis With Vertebral Anomalies	Unilateral renal agenesis, Persistent cloaca, Neonatal death	OMIM:615709
Martin-Probst Syndrome	Proteinuria, Chordee, Renal insufficiency, Micropenis	OMIM:300519
Fructose Intolerance, Hereditary	Proximal tubulopathy, Transient aminoaciduria, Glycosuria, Hypoglycemia, Hyperbilirubinemia, Hype...	OMIM:229600
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1454
Nail-Patella Syndrome	Thickened glomerular basement membrane, Nephritis, Stage 5 chronic kidney disease, Renal insuffic...	ORPHA:2614
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Chronic kidney disease, Renal amyloidosis, Abnormality of the urinary system, IgA deposition in t...	ORPHA:79408
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Hypoglycemia, Decreased glomerular filtration rate, Hyperlipi...	OMIM:232220
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypoalbuminemia, Hypermethioninemia, Hypoglycemia, Hyperbilirubinemia, 4-Hydroxyphenylpyruvic aci...	OMIM:617156
Galloway-Mowat Syndrome 3	Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomer...	OMIM:617729
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level, Renal cortical adenoma	ORPHA:231632
Pyomyositis	Renal insufficiency	ORPHA:764
Sickle Cell Disease	Hematuria, Renal insufficiency	OMIM:603903
Oculocerebrorenal Syndrome Of Lowe	Aminoaciduria, Nephrocalcinosis, Oligosacchariduria, Renal insufficiency, Death in infancy, Nephr...	ORPHA:534
Adrenocortical Carcinoma	Increased urinary cortisol level, Abnormality of urine homeostasis, Hypokalemia	ORPHA:1501
Tubulointerstitial Nephritis And Uveitis Syndrome	Aminoaciduria, Beta 2-microglobulinuria, Sterile pyuria, Elevated circulating creatinine concentr...	ORPHA:91500
Hermansky-Pudlak Syndrome 1	Renal insufficiency	OMIM:203300
Alstrom Syndrome	Nephritis, Decreased HDL cholesterol concentration, Renal insufficiency, Hyperuricemia, Hypertrig...	OMIM:203800
Shigellosis	Acute kidney injury, Urethritis, Hyponatremia, Abnormal blood ion concentration, Hemolytic-uremic...	ORPHA:810
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Distal Deletion 10Q	Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, Vesicoureteral refl...	ORPHA:96148
Pearson Syndrome	Glycosuria, Hypomagnesemia, Renal insufficiency, Hypocalcemia, Proteinuria, Renal cyst, Hypokalem...	ORPHA:699
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Patent ductus arteriosus, Multiple ...	OMIM:267010
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Nephropathy, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Proteinuria	ORPHA:1018
Cranioectodermal Dysplasia 4	Stage 5 chronic kidney disease	OMIM:614378
Beckwith-Wiedemann Syndrome	Nephropathy, Mandibular prognathia, Otosclerosis, Hearing impairment, Abnormal earlobe morphology...	ORPHA:116
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia, Neonatal hypoglycemia, Hypoglycemia	OMIM:613986
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Long penis, Decreased circulating renin level, Hy...	ORPHA:90795
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Fabry Disease	Nephropathy, Abnormal circulating lipid concentration, Renal insufficiency, Hyperlipidemia, Hemat...	ORPHA:324
Mandibuloacral Dysplasia With Type B Lipodystrophy	Stage 5 chronic kidney disease, Hyperlipidemia, Death in early adulthood	OMIM:608612
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hyperkalemia, Conjugated hyperbilirubinemia	OMIM:608885
Arteriosclerosis, Severe Juvenile	Chronic kidney disease	OMIM:208060
Giant Cell Arteritis	Hematuria, Renal insufficiency	ORPHA:397
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Hyperechogenic kidneys, Renal cortical cysts, Renal insufficiency, Hypospadias, Renal dysplasia	ORPHA:397715
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Renal insufficiency	OMIM:226980
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Conductive hearing impairment, Camptodactyly of finger, Temporomandibular joint ank...	ORPHA:217085
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated amniotic fluid alpha-fetoprotein, Low-molecular-weight proteinuria, Stage...	OMIM:309000
Acute Generalized Exanthematous Pustulosis	Renal insufficiency	ORPHA:293173
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Conductive hearing impairment, Camptodactyly of finger, Temporomandibular joint ank...	ORPHA:217093
Erdheim-Chester Disease	Hydronephrosis, Dysuria, Renal insufficiency	ORPHA:35687
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia	ORPHA:90790
Gitelman Syndrome	Focal segmental glomerulosclerosis, Hypermagnesemia, Enuresis, Hypomagnesemia, Renal tubular acid...	ORPHA:358
Stevens-Johnson Syndrome	Dysuria, Renal insufficiency, Abnormality of the urethra	ORPHA:36426
Marburg Hemorrhagic Fever	Hypoalbuminemia, Hypoglycemia, Elevated circulating creatinine concentration, Hyperamylasemia, Hy...	ORPHA:99826
Pierson Syndrome	Hyperechogenic kidneys, Stage 5 chronic kidney disease, Death in childhood, Proteinuria, Diffuse ...	OMIM:609049
Immunoglobulin A Vasculitis	Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:761
Toxic Epidermal Necrolysis	Dysuria, Renal insufficiency, Abnormality of the urethra	ORPHA:537
Autosomal Recessive Hypophosphatemic Rickets	Renal phosphate wasting, Renal hypophosphatemia, Hypophosphatemic rickets, Hyperphosphaturia, Abn...	ORPHA:289176
Granulomatosis With Polyangiitis	Ureteral stenosis, Renal insufficiency, Hematuria, Proteinuria, Hydronephrosis, Glomerulopathy, E...	ORPHA:900
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Joubert Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease, Renal cortical cysts, Reduced renal corticomedu...	OMIM:610188
Tuberous Sclerosis Complex	Chronic kidney disease, Stage 5 chronic kidney disease, Renal insufficiency, Renal angiomyolipoma...	ORPHA:805
Mucopolysaccharidosis Type 2	Hip osteoarthritis, Otosclerosis, Conductive hearing impairment, Temporomandibular joint ankylosi...	ORPHA:580
Familial Mediterranean Fever	Renal amyloidosis, Stage 5 chronic kidney disease, Elevated circulating amyloid A concentration, ...	OMIM:249100
Waldenström Macroglobulinemia	Renal insufficiency	ORPHA:33226
Sickle Cell Anemia	Unconjugated hyperbilirubinemia, Elevated circulating creatinine concentration	ORPHA:232
Lysinuric Protein Intolerance	Aminoaciduria, Hyperlysinuria, Increased circulating ferritin concentration, Oroticaciduria, Stag...	OMIM:222700
Serotonin Syndrome	Acute kidney injury	ORPHA:43116
Cockayne Syndrome Type 3	Unilateral renal agenesis, Renal hypoplasia, Hydroureter, Urinary retention, Renal insufficiency,...	ORPHA:90324
Glutaryl-Coa Dehydrogenase Deficiency	Chronic kidney disease, Glutaric aciduria	ORPHA:25
Hardikar Syndrome	Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Pyelonephritis, Hyper...	OMIM:301068
Spondyloenchondrodysplasia	Chronic kidney disease, Hematuria, Proteinuria	ORPHA:1855
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Stage 5 chronic kidney disease, Hyperlipidemia, Hyperuricemia, Nephrolithiasis,...	ORPHA:79259
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Increased urinary 11-deoxycorticosterone level, Decreased circulating renin level, Hypokalemia, M...	ORPHA:90793
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Low-set ears, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Sensorineural hear...	OMIM:618500
Cockayne Syndrome	Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Hyperuricemia, Proteinuria, Neu...	ORPHA:191
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease	ORPHA:2752
Hellp Syndrome	Hemoglobinuria, Proteinuria, Acute kidney injury	ORPHA:244242
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Rabson-Mendenhall Syndrome	Hypokalemia, Nephrocalcinosis, Long penis, Increased C-peptide level	ORPHA:769
Neurooculorenal Syndrome	Unilateral renal agenesis, Hypoplasia of the bladder, Bilateral renal agenesis, Hyperechogenic ki...	OMIM:620305
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Alagille Syndrome 1	Focal segmental glomerulosclerosis, Renal hypoplasia, Multiple small medullary renal cysts, Renal...	OMIM:118450
Cocaine Intoxication	Acute kidney injury, Elevated circulating creatine kinase concentration, Hematuria, Proteinuria, ...	ORPHA:90068
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Vesicovaginal fistula, Horseshoe kidney, Decreased circulating renin level, Hyponatremia, Chordee...	OMIM:201750
Chromosome 17Q12 Deletion Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Renal hypoplasia, Hypoplasia of the blad...	OMIM:614527
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia	OMIM:188580
Scalp-Ear-Nipple Syndrome	Unilateral renal agenesis, Renal hypoplasia, Renal insufficiency, Pyelonephritis	OMIM:181270
Cardiospondylocarpofacial Syndrome	Low-set ears, Conductive hearing impairment, Fusion of middle ear ossicles, Recurrent otitis medi...	OMIM:157800
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Long penis, Decreased circulating renin level	OMIM:202010
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia	OMIM:613239
Cranioectodermal Dysplasia 1	Chronic kidney disease, Renal magnesium wasting, Stage 1 chronic kidney disease, Stage 5 chronic ...	OMIM:218330
Hermansky-Pudlak Syndrome	Renal insufficiency	ORPHA:79430
Cranioectodermal Dysplasia 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:614099
Cranioectodermal Dysplasia 2	Renal cyst, Hyperbilirubinemia, Renal insufficiency, Patent ductus arteriosus	OMIM:613610
Pancreatic Agenesis-Holoprosencephaly Syndrome	Low-set ears, Hypoplasia of the zygomatic bone, Abnormal pinna morphology, Agenesis of corpus cal...	ORPHA:556955
Diarrhea 1, Secretory Chloride, Congenital	Hypokalemia, Hyponatremia, Hypochloremia, Increased circulating renin level	OMIM:214700
Familial Hyperaldosteronism Type I	Hypokalemia	ORPHA:403
Familial Hyperaldosteronism Type Ii	Hypokalemia	ORPHA:404
Orofaciodigital Syndrome Type 1	Proteinuria, Multicystic kidney dysplasia, Hydronephrosis, Renal insufficiency	ORPHA:2750
Fanconi Anemia	Abnormality of the urinary system, Hydroureter, Recurrent urinary tract infections, Renal insuffi...	ORPHA:84
Relapsing Polychondritis	Hematuria, Proteinuria, Glomerulopathy, Renal insufficiency	ORPHA:728
Scorpion Envenomation	Acute kidney injury, Ketonuria, Glycosuria, Hypokalemia, Increased circulating creatine kinase MB...	ORPHA:466677
Cockayne Syndrome B	Micropenis, Proteinuria, Renal insufficiency, Death in childhood	OMIM:133540
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Hydronephrosis, Vesicoureteral reflux	OMIM:616580
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Abnormality of the kidney	ORPHA:449432
Nelson Syndrome	Increased urinary cortisol level, Hypokalemia	ORPHA:199244
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Hypokalemia	ORPHA:786
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Acute kidney injury, Nephronophthisis, Stage 5 chronic kidney disease, Reduced renal corticomedul...	OMIM:266920
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypoalbuminemia, Dilatation of the renal pelvis, Hyperechogenic kidneys, Increased circulating fe...	OMIM:619534
Williams Syndrome	Death in early adulthood, Patent ductus arteriosus, Renal insufficiency, Renal duplication, Multi...	ORPHA:904
Agel Amyloidosis	Proteinuria, Stage 5 chronic kidney disease	ORPHA:85448
Zttk Syndrome	Horseshoe kidney, Unilateral renal agenesis, Patent ductus arteriosus, Polyuria	OMIM:617140
Leprechaunism	Nephrocalcinosis, Long penis, Hypokalemia, Hypercalciuria, Enlarged kidney, Increased circulating...	ORPHA:508
Primary Sclerosing Cholangitis	Hypoalbuminemia, Renal insufficiency	ORPHA:171
Branchiooculofacial Syndrome	Low-set ears, Hypospadias, Conductive hearing impairment, Hearing impairment, Fusion of middle ea...	OMIM:113620
Cockayne Syndrome A	Micropenis, Proteinuria, Renal insufficiency	OMIM:216400
Coccidioidomycosis	Abnormality of the bladder, Renal insufficiency, Abnormality of the kidney	ORPHA:228123
Williams-Beuren Syndrome	Renal hypoplasia, Nephrocalcinosis, Recurrent urinary tract infections, Hypercalcemia, Renal arte...	OMIM:194050
Primary Sjögren Syndrome	Tubulointerstitial nephritis, Renal insufficiency, Glomerulonephritis, Abnormality of the kidney	ORPHA:289390
Autoimmune Lymphoproliferative Syndrome	Renal insufficiency, Glomerulonephritis	ORPHA:3261
Degcags Syndrome	Chronic kidney disease, Renal hypoplasia, Bilateral renal dysplasia, Bilateral renal hypoplasia, ...	OMIM:619488
Townes-Brocks Syndrome	Renal hypoplasia, Renal insufficiency, Vesicoureteral reflux, Multiple renal cysts, Ectopic kidne...	ORPHA:857
Zygomycosis	Nephritis, Renal insufficiency	ORPHA:73263
Sarcoidosis	Nephrocalcinosis, Renal insufficiency, Nephrolithiasis, Hypercalciuria, Tubulointerstitial nephri...	ORPHA:797
Digeorge Syndrome	Unilateral renal agenesis, Renal insufficiency, Hypocalcemia, Hydronephrosis, Patent ductus arter...	OMIM:188400
Bardet-Biedl Syndrome	Chronic kidney disease, Horseshoe kidney, Vesicoureteral reflux, Hypertriglyceridemia, Hydronephr...	ORPHA:110
Listeriosis	Acute kidney injury, Pyelonephritis, Miscarriage	ORPHA:533
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Polyuria, Hypertriglyceridemia	OMIM:606721
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Renal insufficiency, Hyperuricemia...	ORPHA:97214
Saethre-Chotzen Syndrome	Low-set ears, Lambdoidal craniosynostosis, Hypoplasia of the maxilla, Coronal craniosynostosis, H...	OMIM:101400
Behçet Disease	Glomerulopathy, Renal insufficiency	ORPHA:117
Townes-Brocks Syndrome 1	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Ureth...	OMIM:107480
Sotos Syndrome	Renal agenesis, Hypercalcemia, Vesicoureteral reflux, Renal insufficiency, Ureteropelvic junction...	ORPHA:821
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia, Death in childhood, Death in infancy	OMIM:618426
Acute Liver Failure	Acute kidney injury, Hyperammonemia	ORPHA:90062
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Hypoplasia of penis, Hy...	ORPHA:199
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Moderate albuminuria, Acute kidney injury, Hematuria, Renal tubular ep...	ORPHA:95455
Leptospirosis	Acute kidney injury, Cellular urinary casts, Hyperproteinemia	ORPHA:509
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Costello Syndrome	Renal insufficiency	OMIM:218040
Juvenile Polyposis Syndrome	Hypoalbuminemia, Hypokalemia	OMIM:174900
Floating-Harbor Syndrome	Hypospadias, Nephrocalcinosis, Dilatation of the renal pelvis, Renal agenesis, Stage 5 chronic ki...	ORPHA:2044
African Trypanosomiasis	Urinary incontinence, Renal insufficiency, Miscarriage	ORPHA:3385
Immunodeficiency 87 And Autoimmunity	Elevated circulating C-reactive protein concentration, Hypokalemia, Hypertriglyceridemia	OMIM:619573
Blau Syndrome	Nephropathy, Stage 5 chronic kidney disease, Clear cell renal cell carcinoma	ORPHA:90340
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Tsh-Secreting Pituitary Adenoma	Hypokalemia	ORPHA:91347
Hereditary Sensory And Autonomic Neuropathy Type 4	Chronic kidney disease	ORPHA:642
Vascular Ehlers-Danlos Syndrome	Cystocele, Hypokalemia, Bladder diverticulum, Renovascular hypertension, Hypospadias	ORPHA:286
Alström Syndrome	Chronic kidney disease, Detrusor sphincter dyssynergia, Functional abnormality of the bladder, Ur...	ORPHA:64
Snijders Blok-Fisher Syndrome	Protruding ear, Cupped ear	OMIM:618604

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 Pou3f3

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 Pou3f3.

No publications found that use IMPC mice or data for Pou3f3.

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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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