Gene: Umod MGI:102674

Gene Summary

Name:

uromodulin

Synonyms:

Tamm-Horsfall glycoprotein, uromucoid, urehr4, Urehd1

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.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased mean corpuscular volume	Umod^urehr4	HOM	Early adult	2.88×10^-05
decreased hematocrit	Umod^urehr4	HOM	Early adult	9.94×10^-05
decreased hemoglobin content	Umod^urehr4	HOM	Early adult	4.07×10^-05
increased blood urea nitrogen level	Umod^urehr4	HOM	Early adult	5.79×10^-31

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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 Umod 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 Umod (1 diseases)
Human diseases predicted to be associated with Umod (2287 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1		Hyperuricemia, Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis	OMIM:162000

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

Disease	Matching phenotypes	Source
Neutrophil Actin Dysfunction	Recurrent bacterial infections	OMIM:257150
Immunodeficiency 34	Severe recurrent varicella, Recurrent mycobacterial infections	OMIM:300645
Immunodeficiency 28	Recurrent mycobacterial infections	OMIM:614889
Immunodeficiency 30	Recurrent infections, Recurrent mycobacterial infections	OMIM:614891
Immunodeficiency 31B	Herpes simplex encephalitis, Recurrent mycobacterial infections, Recurrent viral infections	OMIM:613796
Complement Factor D Deficiency	Recurrent bacterial infections	OMIM:613912
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Human Coronavirus Sensitivity	Susceptibility to coronavirus 229e	OMIM:122460
Varicella, Severe Recurrent	Severe recurrent varicella	OMIM:600670
Leishmaniasis, Tegumentary, Susceptibility To	Tegumentary leishmaniasis susceptibility	OMIM:602068
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 1	Recurrent herpes, Herpes simplex encephalitis	OMIM:610551
Coxsackievirus B3 Susceptibility	Recurrent viral infections	OMIM:120050
Ciliary Discoordination Due To Random Ciliary Orientation	Recurrent infections	OMIM:215518
Candidiasis, Familial, 4	Recurrent vulvovaginal candidiasis, Onychomycosis	OMIM:613108
Complement Component 7 Deficiency	Recurrent meningococcal disease, Recurrent Neisserial infections	OMIM:610102
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein	Recurrent protozoan infections, Recurrent viral infections, Recurrent bacterial infections	OMIM:308220
Complement Component 8 Deficiency, Type Ii	Meningitis, Recurrent Neisserial infections	OMIM:613789
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Pentosuria	Abnormality of urine homeostasis	OMIM:260800
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency	Recurrent streptococcus pneumoniae infections, Recurrent staphylococcal infections, Recurrent bac...	ORPHA:70592
Mannose-Binding Lectin Deficiency	Recurrent herpes, Disseminated cryptosporidium infection, Recurrent meningococcal disease, Recurr...	OMIM:614372
Complement Component 6 Deficiency	Recurrent meningococcal disease	OMIM:612446
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise...	OMIM:161900
Agammaglobulinemia 2, Autosomal Recessive	Meningitis, Recurrent respiratory infections, Recurrent bacterial infections, Recurrent pneumonia	OMIM:613500
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s...	OMIM:310468
Immunodeficiency 53	Recurrent otitis media, Recurrent infections, Recurrent respiratory infections	OMIM:617585
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen...	OMIM:308990
Hypercalcemia, Infantile, 2	Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Medullary nep...	OMIM:616963
Hypouricemia, Renal, 1	Acute kidney injury, Hypouricemia, Uric acid nephrolithiasis, Renal tubular epithelial necrosis, ...	OMIM:220150
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,...	OMIM:613092
Methemoglobin Reductase Deficiency	Abnormal erythrocyte morphology	OMIM:250700
Atr-16 syndrome	Abnormal erythrocyte morphology	DECIPHER:65
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Stage 4 chronic kidney disease, Renal insufficiency, Acute kidney injury, Uric acid nephrolithias...	ORPHA:411536
Lipoprotein Glomerulopathy	Mesangial hypercellularity, Renal insufficiency, Proteinuria, Glomerulopathy	OMIM:611771
Nephrotic Syndrome, Type 6	Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndr...	OMIM:614196
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Dent Disease 2	Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Elevated circulating al...	OMIM:300555
Idiopathic Hypercalciuria	Renal calcium wasting, Hypercalciuria, Calcium oxalate nephrolithiasis	ORPHA:2197
Focal Segmental Glomerulosclerosis 6	Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp...	OMIM:614131
Uridine-Cytidineuria	Elevated uridine in urine, Elevated urinary cytidine	OMIM:618477
Nephrotic Syndrome, Type 23	Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo...	OMIM:619201
Primary Hypomagnesemia With Refractory Seizures And Intellectual Disability	Renal potassium wasting, Episodic hypokalemia, Renal magnesium wasting, Hypomagnesemia, Nephrocal...	ORPHA:564178
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce...	OMIM:614817
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Renal calcium wasting, Recurrent urinary tract infections, Hypercalciuria, Hypermagnesiuria, Chro...	OMIM:248190
Nephrotic Syndrome, Type 18	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:618177
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s...	OMIM:619263
Focal Segmental Glomerulosclerosis 8	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis	OMIM:616032
Nephrotic Syndrome, Type 20	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis	OMIM:301028
Sedoheptulokinase Deficiency	Increased urinary sedoheptulose	OMIM:617213
Nephrotic Syndrome, Type 19	Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer...	OMIM:618178
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Hypercalciuria, Medullary nephrocalcinosis	OMIM:617993
Neuroblastoma	Elevated urinary catecholamines	ORPHA:635
Nephrotic Syndrome, Type 9	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy...	OMIM:615573
Hereditary Renal Hypouricemia	Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k...	ORPHA:94088
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia, Renal phosphate wasting, Hyperphosphaturia, Hypercalciuria, Nephrolithiasis	OMIM:612286
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies	Renal cortical hyperechogenicity, Renal hypoplasia, Reduced renal corticomedullary differentiatio...	OMIM:611555
Hypophosphatemia, Renal, With Intracerebral Calcifications	Renal phosphate wasting, Renal hypophosphatemia	OMIM:241519
Myelolymphatic Insufficiency	Recurrent viral infections, Recurrent bacterial infections	OMIM:310350
Hypomagnesemia 3, Renal	Hypocitraturia, Renal calcium wasting, Hematuria, Polyuria, Recurrent urinary tract infections, H...	OMIM:248250
Hypophosphatemic Rickets, Autosomal Recessive, 2	Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis	OMIM:613312
Neutropenia, Severe Congenital, X-Linked	Recurrent bacterial infections	OMIM:300299
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Focal Segmental Glomerulosclerosis 10	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ...	OMIM:256020
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr...	OMIM:603965
Nephrotic Syndrome, Type 2	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy...	OMIM:600995
Monocyte and dendritic cell deficiency, autosomal recessive	Recurrent infections	OMIM:614894
Nephrotic Syndrome, Type 17	Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ...	OMIM:618176
Medullary Sponge Kidney	Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis	ORPHA:1309
Immunodeficiency, Common Variable, 5	Recurrent respiratory infections, Recurrent bacterial infections	OMIM:613495
Type 1 Diabetes Mellitus	Polyphagia, Polydipsia, Polyuria, Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydr...	OMIM:222100
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Focal Segmental Glomerulosclerosis 7	Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s...	OMIM:616002
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia, Renal phosphate wasting, Nephrolithiasis, Hyperphosphaturia	OMIM:612287
Nephronophthisis 7	Renal tubular atrophy, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:611498
Idiopathic Non-Lupus Full-House Nephropathy	Skin rash, Acute kidney injury, Elevated circulating creatinine concentration, Synovitis, Abnorma...	ORPHA:567544
Iga Nephropathy, Susceptibility To, 2	Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria	OMIM:613944
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Infantile hypercalcemia, Rena...	ORPHA:99879
Immunodeficiency 35	Recurrent viral infections, Recurrent respiratory infections, Recurrent mycobacterial infections,...	OMIM:611521
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Hyperuricemia, Nephropathy, Renal tubular atrophy, Gout, Renal insufficiency, Nephritis	OMIM:162000
Hyperuricemia, Hprt-Related	Hyperuricosuria, Renal insufficiency, Hyperuricemia, Nephrolithiasis	OMIM:300323
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	Recurrent candida infections, Recurrent bacterial infections	OMIM:242870
Diamond-Blackfan Anemia-Like	Pure red cell aplasia, Steroid-responsive anemia	OMIM:617911
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Acute kidney injury, Uric acid nephrolithiasis, Hyperuricemia, Hyperuricosuria, Increased urinary...	ORPHA:411543
Pentosuria	Abnormal urine carbohydrate level, Abnormality of circulating enzyme level, Abnormal circulating ...	ORPHA:2843
Hyperuricemic Nephropathy, Familial Juvenile, 3	Renal insufficiency, Nephropathy	OMIM:614227
Hypocalcemia, Autosomal Dominant 1	Abnormal renal physiology, Hypocalcemia, Increased circulating renin level, Hypercalciuria, Hypok...	OMIM:601198
Dent Disease	Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se...	ORPHA:1652
Branchiootorenal Syndrome 2	Renal dysplasia, Renal insufficiency	OMIM:610896
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,...	OMIM:602522
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium, Renal salt wasting, Decrease...	OMIM:613090
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Hypouricemia, Aminoaciduria, Glycosuria, Nephrocalcinosis, Proteinuria	OMIM:616026
Phosphoribosylpyrophosphate Synthetase Superactivity	Uric acid nephrolithiasis, Renal insufficiency, Hyperuricemia, Hyperuricosuria	OMIM:300661
Immunodeficiency 12	Recurrent viral infections, Recurrent bacterial infections	OMIM:615468
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Renal tubular acidosis, Hypercalciuria, Nephrocalcinosis, Hypercalcemia	OMIM:239199
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Anemia, Steroid-responsive anemia	OMIM:618312
Fanconi Renotubular Syndrome 2	Hypophosphatemia, Generalized aminoaciduria, Proximal tubulopathy, Elevated alkaline phosphatase ...	OMIM:613388
Fanconi Renotubular Syndrome 3	Proteinuria, Aminoaciduria, Hyperphosphaturia, Glycosuria	OMIM:615605
Nephronophthisis 20	Nephronophthisis, Renal insufficiency, Renal cyst, Stage 5 chronic kidney disease	OMIM:617271
Nephrotic Syndrome, Type 13	Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc...	OMIM:616893
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis	OMIM:602722
Senior-Loken Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:609254
Orthostatic Hypotension 2	Decreased glomerular filtration rate, Orthostatic hypotension	OMIM:618182
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hypert...	OMIM:618061
Nephronophthisis 12	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:613820
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo...	OMIM:174000
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemia, Hyperphosphaturia, Hypophosphatemic rickets, Increased circulating beta-C-termi...	ORPHA:157215
Focal Segmental Glomerulosclerosis 5	Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle...	OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis	OMIM:607832
Glomerulopathy With Fibronectin Deposits 1	Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne...	OMIM:137950
Ficolin 3 Deficiency	Recurrent lower respiratory tract infections, Recurrent abscess formation, Recurrent Staphylococc...	OMIM:613860
Nephrotic Syndrome, Type 3	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy...	OMIM:610725
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Decreased glomerular filtration rate, Elevated circulating creatinine concentration, Nephropathy	OMIM:242530
Granulomatous disease with defect in neutrophil chemotaxis	Recurrent staphylococcal infections	OMIM:233670
Congenital Anomalies Of Kidney And Urinary Tract 3	Vesicoureteral reflux, Ectopic kidney, Renal cyst, Hydronephrosis	OMIM:618270
Danubian Endemic Familial Nephropathy	Nephropathy	OMIM:124100
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the urinary system, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Bartter Syndrome, Type 3	Hypocalciuria, Renal potassium wasting, Polyuria, Increased urinary potassium, Renal salt wasting...	OMIM:607364
Tuftsin Deficiency	Recurrent infections	OMIM:191150
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem...	OMIM:603278
Familial Primary Hypomagnesemia With Normocalciuria And Normocalcemia	Hypomagnesemia, Hypermagnesiuria	ORPHA:34527
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	IgA deposition in the glomerulus, Nephropathy, Focal segmental glomerulosclerosis	OMIM:182690
Primary Hyperoxaluria Type 3	Abnormality of urine homeostasis, Dysuria, Abnormal renal physiology, Calcium oxalate nephrolithi...	ORPHA:93600
Adrenocortical Hypofunction, Chronic Primary Congenital	Hypernatriuria	OMIM:103230
Dent Disease 1	Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hyperphosphaturia, P...	OMIM:300009
Hypercalcemia, Infantile, 1	Polyuria, Hypercalciuria, Infantile hypercalcemia, Nephrocalcinosis, Nephrolithiasis	OMIM:143880
Gastric Cancer	Increased level of L-fucose in urine	OMIM:613659
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Renal insufficiency, Hypercalcemia, Proteinuria, Glomerulopathy	ORPHA:2668
Renal Hypodysplasia/Aplasia 3	Horseshoe kidney, Multicystic kidney dysplasia, Renal dysplasia, Vesicoureteral reflux, Hydroneph...	OMIM:617805
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts	OMIM:609886
Congenital Primary Megaureter	Abnormal penis morphology, Congenital megaureter, Recurrent urinary tract infections, Microscopic...	ORPHA:617
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Nephrotic syndrome	OMIM:616220
Galloway-Mowat Syndrome 8	Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Hypoalbuminemia, Nephrotic ...	OMIM:618349
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Chronic kidney disease, Elevated hepatic transaminase, Nephropathy, Abnormal tubulointerstitial m...	OMIM:602114
Senior-Loken Syndrome 1	Nephronophthisis, Polydipsia, Polyuria, Stage 5 chronic kidney disease	OMIM:266900
Renal Glucosuria	Polyphagia, Polyuria, Glycosuria, Enuresis nocturna, Polydipsia	OMIM:233100
Neutropenia, Severe Congenital, 6, Autosomal Recessive	Recurrent otitis media, Recurrent respiratory infections, Recurrent bacterial infections	OMIM:616022
Primary Fanconi Renotubular Syndrome	Decreased plasma carnitine, Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight prote...	ORPHA:3337
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria	OMIM:247950
Bartter Syndrome, Type 1, Antenatal	Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, Hypercalciuria, ...	OMIM:601678
Blue Diaper Syndrome	Nephrocalcinosis, Hypercalcemia, Abnormal circulating tryptophan concentration	OMIM:211000
Nail-Patella-Like Renal Disease	Hypertension, Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria	ORPHA:2613
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Primary Membranoproliferative Glomerulonephritis	Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch...	ORPHA:54370
Iga Nephropathy, Susceptibility To, 1	Hematuria, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephritis, Proteinuria	OMIM:161950
Hypomagnesemia, Seizures, And Mental Retardation 2	Renal potassium wasting, Polyuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia	OMIM:618314
Hyperprolinemia Type 1	Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria	ORPHA:419
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Red-brown urine, Renal tubular epithelial necrosis, Elevated circulating long chain fatty acid co...	ORPHA:228302
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalciuria, Hypercalcemia, Micropenis, Hypospadias	OMIM:614732
Well-Differentiated Liposarcoma	Abnormal renal physiology	ORPHA:99971
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency	Recurrent bacterial skin infections	ORPHA:183713
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome	ORPHA:69063
Hypomagnesemia 2, Renal	Hypocalciuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia, Renal insufficiency	OMIM:154020
Nephrotic Syndrome, Type 22	Hypoproteinemia, Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclero...	OMIM:619155
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Hypertension, Proteinuria	ORPHA:2820
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis	OMIM:612551
Nephronophthisis 1	Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Hypertension, Renal tubul...	OMIM:256100
Distal Renal Tubular Acidosis	Hypocitraturia, Low-molecular-weight proteinuria, Hyperphosphaturia, Rickets, Renal potassium was...	ORPHA:18
Hyperoxaluria, Primary, Type Ii	Calcium oxalate nephrolithiasis, Hematuria, Hyperoxaluria, Aminoaciduria, Renal insufficiency, Ne...	OMIM:260000
Iga Nephropathy, Susceptibility To, 3	Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesang...	OMIM:616818
Proximal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Bicarbonate-wasting renal tubular acidosis, Hyperphosphaturia, ...	ORPHA:47159
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Aminoaciduria, Glycosuri...	OMIM:618913
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat...	OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hematuria, Acute kidney injury, Increased blood urea nitrogen, Anuria, Elevated circulating creat...	OMIM:612926
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Increased circulating renin level, Hypochloremia, Hypercalciuria, Hypokal...	OMIM:300971
Oligomeganephronia	Decreased numbers of nephrons, Proteinuria, Elevated circulating creatinine concentration, Unilat...	ORPHA:2260
Granulomatous Slack Skin	Nephrocalcinosis, Hypercalcemia, Acute kidney injury	ORPHA:33111
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections	OMIM:616126
Senior-Loken Syndrome 4	Nephronophthisis, Polydipsia, Polyuria, Stage 5 chronic kidney disease	OMIM:606996
Nephrotic Syndrome, Type 15	Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph...	OMIM:617609
Nephrotic Syndrome, Type 12	Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro...	OMIM:616892
Glomerulopathy With Fibronectin Deposits 2	Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal cell carcinoma,...	OMIM:601894
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:614199
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Primary Hyperoxaluria Type 2	Ureteral obstruction, Recurrent urinary tract infections, Hyperoxaluria, Renal insufficiency, Nep...	ORPHA:93599
Hemoglobin H Disease	Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly	OMIM:613978
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Dysuria, Acute kidney injury, Uric acid nephrolithiasis, Elevated circulating creatinine concentr...	ORPHA:79233
Tubulointerstitial Nephritis With Uveitis	Panuveitis, Elevated circulating creatinine concentration, Reversible renal failure, Uveitis, Glo...	OMIM:607665
Threoninemia	Hyperthreoninuria, Hyperthreoninemia	OMIM:273770
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Urofacial Syndrome 2	Recurrent urinary tract infections, Enuresis, Urinary urgency, Vesicoureteral reflux, Hydronephro...	OMIM:615112
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Cystinuria	Recurrent urinary tract infections, Cystinuria, Ornithinuria, Argininuria, Renal insufficiency, N...	OMIM:220100
Fanconi-Bickel Syndrome	Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Hypouricemia, Glycosuria, Hypokal...	OMIM:227810
Fanconi-Bickel Syndrome	Hypophosphatemia, Hyperphosphaturia, Generalized aminoaciduria, Nephropathy, Glycosuria, Renal tu...	ORPHA:2088
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Renal phosphate wasting, Rickets, Hypophosphatemic rickets, Osteomalacia	OMIM:193100
Renal Dysplasia, Cystic, Susceptibility To	Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins...	OMIM:601331
Nephrotic Syndrome, Type 4	Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff...	OMIM:256370
Coenzyme Q10 Deficiency, Primary, 6	Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis	OMIM:614650
Small Cell Carcinoma Of The Bladder	Dysuria, Recurrent urinary tract infections, Hypercalcemia, Hematuria	ORPHA:284400
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Nephritis, Arthritis	OMIM:216950
Nephrotic Syndrome, Type 7	Acute kidney injury, Hemolytic-uremic syndrome, Glomerulonephritis, Stage 5 chronic kidney diseas...	OMIM:615008
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Rickets, Hypophospha...	OMIM:300554
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Nephrotic syndrome, Renal insuff...	OMIM:254900
C3 Glomerulopathy 3	Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease	OMIM:614809
Anemia, Sideroblastic, 4	Sideroblastic anemia, Abnormal erythrocyte morphology	OMIM:182170
Severe Primary Trimethylaminuria	Trimethylaminuria	ORPHA:468726
Hypervitaminosis A, Susceptibility To	Renal insufficiency, Hypercalcemia	OMIM:240150
Autosomal Dominant Hypocalcemia	Hypocalcemia, Hypercalciuria, Hypermagnesiuria, Hypomagnesemia, Nephrocalcinosis, Hyperphosphatemia	ORPHA:428
Lipoid Congenital Adrenal Hyperplasia	Hypospadias, Renal salt wasting	OMIM:201710
Renal Hypoplasia	Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth...	ORPHA:93101
Senior-Loken Syndrome 7	Nephronophthisis	OMIM:613615
Bartter Syndrome, Type 2, Antenatal	Hyposthenuria, Chondrocalcinosis, Renal potassium wasting, Polyuria, Renal juxtaglomerular cell h...	OMIM:241200
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Tubular Renal Disease-Cardiomyopathy Syndrome	Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany, Hypercalciuria, Hypermagnesiuria, Abnormal ren...	ORPHA:73224
Autosomal Dominant Polycystic Kidney Disease	Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Elevated circulating creatinine concentr...	ORPHA:730
Complement Factor H Deficiency	Glomerular subendothelial electron-dense deposits, Thickened glomerular basement membrane, Hematu...	OMIM:609814
Cd8 Deficiency, Familial	Recurrent respiratory infections, Recurrent viral infections, Recurrent bacterial infections	OMIM:608957
Primary Hyperoxaluria Type 1	Dysuria, Hematuria, Recurrent urinary tract infections, Enuresis, Hyperoxaluria, Decreased glomer...	ORPHA:93598
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hyperalaninemia, Stage 5 chronic kidney disease	OMIM:618250
Idiopathic Steroid-Resistant Nephrotic Syndrome	Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy...	ORPHA:567548
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Nephronophthisis 9	Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease	OMIM:613824
C3 Glomerulopathy	Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Membranoproliferat...	ORPHA:329918
Agammaglobulinemia 3, Autosomal Recessive	Recurrent bronchitis, Recurrent otitis media, Recurrent respiratory infections, Recurrent bacteri...	OMIM:613501
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Pustule, Acute kidney injury, Elevated hepatic transaminase, Superficial dermal perivascular infl...	ORPHA:284426
Systemic Lupus Erythematosus 16	Nephritis	OMIM:614420
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypomagnesiuria, Hypocalciuria, Chondrocalcinosis, Renal hypophosphatemia, Osteo...	ORPHA:405
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia, Hyperphosphaturia	ORPHA:89937
Essential Fructosuria	Abnormal urine carbohydrate level	ORPHA:2056
Hanac Syndrome	Renal insufficiency, Multiple renal cysts, Hematuria	ORPHA:73229
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations	Recurrent viral infections, Recurrent fungal infections, Recurrent bacterial infections	OMIM:614868
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis	OMIM:614455
Fibronectin Glomerulopathy	Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Hypoalbuminemia,...	ORPHA:84090
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemia, Renal phosphate wasting, Rickets, Hypophosphatemic rickets, Recurrent fractures...	OMIM:241530
2p15-16.1 microdeletion syndrome	Hydronephrosis	DECIPHER:70
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli...	ORPHA:157
Nephronophthisis 4	Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Renal tubular atrophy, Renal corticomedu...	OMIM:606966
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Nephrocalcinosis	OMIM:156400
Lesch-Nyhan Syndrome	Hyperuricosuria, Hyperuricemia, Nephrolithiasis	OMIM:300322
Fanconi Renotubular Syndrome 1	Hypophosphatemia, Lacticaciduria, Rickets, Aminoaciduria, Glycosuria, Osteomalacia, Hypokalemia, ...	OMIM:134600
Nephrotic Syndrome, Type 1	Hypoproteinemia, Glomerular sclerosis, Renal tubular atrophy, Hypoalbuminemia, Renal insufficienc...	OMIM:256300
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Increased circulating ferritin concentration, Hypochromia, Decreased mean corpuscular volume, Anemia	OMIM:205950
Hyperprolinemia, Type Ii	Hyperglycinuria, Hydroxyprolinuria, Prolinuria, Hyperprolinemia	OMIM:239510
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Hypophosphatasia, Infantile	Nephrocalcinosis, Craniosynostosis, Elevated plasma pyrophosphate, Elevated urine pyrophosphate, ...	OMIM:241500
Nephronophthisis 3	Nephronophthisis, Tubulointerstitial fibrosis, Polyuria, Enuresis, Renal tubular atrophy, Renal c...	OMIM:604387
Wilson Disease	Hyperphosphaturia, Aminoaciduria, Glycosuria, Hypercalciuria, High nonceruloplasmin-bound serum c...	OMIM:277900
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Hyperuricemia, Nephropathy, Gout, Renal cyst, Chronic kidney ...	OMIM:617056
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria	OMIM:242550
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemia, Hypercalciuria, Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:2239
Cerebral Creatine Deficiency Syndrome 3	Organic aciduria	OMIM:612718
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndro...	OMIM:616730
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Hyperphosphaturia, Polyuria, Aminoaciduria, Hypercalciuria, Calcinosis, Hyperca...	OMIM:239200
Hyperparathyroidism 4	Osteopenia, Hypercalcemia, Nephrolithiasis	OMIM:617343
Camptodactyly 1	Increased urinary taurine	OMIM:114200
East Syndrome	Enuresis, Renal salt wasting, Increased circulating renin level, Renal sodium wasting, Hypokalemi...	ORPHA:199343
Hyperphenylalaninemia, Bh4-Deficient, D	Hyperphenylalaninemia, Transient hyperphenylalaninemia, Elevated urinary 7-biopterin level	OMIM:264070
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypocalciuria, Hypercalciuria, Hypercalcemia, Nephrolithiasis	OMIM:145980
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Thrombocytopenia, Abnormal hemoglobin, Anemia, Splenomegaly	ORPHA:231393
Congenital Megacalycosis	Abnormal renal physiology, Hematuria, Enlarged kidney, Dilatation of renal calices, Recurrent uri...	ORPHA:93109
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Decreased plasma total carnitine, Cystic renal dysplasia, Renal tubular epitheli...	ORPHA:228308
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Hypermagnesemia, Hypocalciuria, Chondrocalcinosis, Osteomalacia, Hypercalcemia,...	OMIM:600740
Amelogenesis Imperfecta, Type Ig	Impaired renal concentrating ability, Polyuria, Enuresis, Renal insufficiency, Nephrocalcinosis	OMIM:204690
Preeclampsia/Eclampsia 1	Hypertension, Proteinuria	OMIM:189800
Uremic Pruritus	Hypermagnesemia, Increased blood urea nitrogen, Elevated total serum tryptase, Renal hypophosphat...	ORPHA:94059
Bardet-Biedl Syndrome 10	Renal insufficiency, Renal cyst, Abnormality of the kidney	OMIM:615987
Immunodeficiency, Common Variable, 6	Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune complex deposition, Glomerulonephr...	OMIM:613496
Familial Parathyroid Adenoma	Hypophosphatemia, Renal insufficiency, Hyperphosphaturia, Hypercalciuria, Hypercalcemia, Calcium ...	ORPHA:99877
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ...	OMIM:220110
Vesicoureteral Reflux 3	Vesicoureteral reflux, Hydronephrosis, Hydroureter	OMIM:613674
Complement Component 3 Deficiency, Autosomal Recessive	Membranoproliferative glomerulonephritis, Renal insufficiency, Nephrotic syndrome	OMIM:613779
Lesch-Nyhan Syndrome	Gout, Renal insufficiency, Hematuria, Hyperuricemia	ORPHA:510
Cryoglobulinemia, Familial Mixed	Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Chronic kidn...	OMIM:123550
Hyperaldosteronism, Familial, Type Iii	Polyuria, Hypertension, Hypercalciuria, Decreased circulating renin level, Hypokalemia, Polydipsia	OMIM:613677
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Polyuria, Hyperuricemia, Renal salt wasting, Hyponatremia, Chronic kidney disease, Hyperechogenic...	OMIM:613845
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Aminoaciduria, Glycosuria, Renal Fanconi syndrome, Renal tubular dysfunction, ...	ORPHA:436271
Fructose Intolerance, Hereditary	Hypophosphatemia, Hyperphosphaturia, Transient aminoaciduria, Proximal tubulopathy, Hyperbilirubi...	OMIM:229600
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Congenital Anomalies Of Kidney And Urinary Tract 2	Cystic renal dysplasia, Renal hypoplasia, Congenital megaureter, Renal sarcoma, Hydroureter, Mult...	OMIM:143400
Infantile Bartter Syndrome With Sensorineural Deafness	Impaired renal concentrating ability, Acute kidney injury, Hyponatremia, Increased circulating re...	ORPHA:89938
Dibasic Amino Aciduria I	Dibasicaminoaciduria, Ornithinuria, Argininuria, Hyperlysinuria	OMIM:222690
Saccharopinuria	Histidinuria, Citrullinuria, Hyperlysinuria	OMIM:268700
Igg4-Related Retroperitoneal Fibrosis	Dysuria, Unilateral renal hypoplasia, Hematuria, Increased blood urea nitrogen, Acute kidney inju...	ORPHA:49041
Preeclampsia	Acute kidney injury, Elevated hepatic transaminase, Elevated circulating creatinine concentration...	ORPHA:275555
Immunodeficiency 32A	Recurrent infections	OMIM:614893
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Ring Chromosome 8 Syndrome	Hydronephrosis, Abnormality of the ureter	ORPHA:1450
Hyper-Beta-Alaninemia	Hyperbeta-alaninemia, Increased urinary taurine	OMIM:237400
Apparent Mineralocorticoid Excess	Renal insufficiency, Decreased circulating renin level, Hypokalemia, Abnormal urine sodium concen...	ORPHA:320
Carnosinemia	Carnosinuria	OMIM:212200
Xanthinuria, Type I	Xanthinuria, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia, Hydronephrosis	OMIM:278300
Obesity Due To Melanocortin 4 Receptor Deficiency	Polyphagia, Hyperinsulinemia, Hypertriglyceridemia, Type II diabetes mellitus, Increased adipose ...	ORPHA:71529
Diabetes Insipidus, Neurohypophyseal Type	Polydipsia, Hypokalemia, Polyuria, Hydronephrosis	OMIM:304900
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:300448
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Nephrocalcinosis	OMIM:614473
Alport Syndrome 3, Autosomal Dominant	Hypophosphatemia, Hematuria, Azotemia, Thickened glomerular basement membrane, Glomerulonephritis...	OMIM:104200
Corticosterone Methyloxidase Type Ii Deficiency	Increased circulating corticosterone level, Hyponatremia, Renal salt wasting, Increased circulati...	OMIM:610600
Glycogen Storage Disease Xi	Elevated circulating creatine kinase concentration, Renal insufficiency, Increased serum pyruvate...	OMIM:612933
Alport Syndrome	Hematuria, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Proteinuria, Thickene...	ORPHA:63
Glycogen Storage Disease X	Elevated circulating creatine kinase concentration, Renal insufficiency, Myoglobinuria	OMIM:261670
Galloway-Mowat Syndrome 5	Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome	OMIM:617731
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Hypertension, Urinary incontinence, Ves...	ORPHA:2704
Camos Syndrome	Renal insufficiency, Nephrotic syndrome	ORPHA:83472
Dicarboxylic Aminoaciduria	Aspartic aciduria, Nephrolithiasis, Aminoaciduria	OMIM:222730
Renal Tubular Acidosis Iii	Nephrocalcinosis, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Hypokalemia	OMIM:267200
Myoglobinuria, Autosomal Dominant	Elevated circulating creatine kinase concentration, Acute kidney injury, Myoglobinuria	OMIM:160010
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Persistence of hemoglobin F, Splenomegaly	ORPHA:46532
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume	OMIM:252270
Nephrotic Syndrome, Type 16	Proteinuria, Hematuria, Nephrotic syndrome	OMIM:617783
Galloway-Mowat Syndrome 2, X-Linked	Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul...	OMIM:301006
Immunodeficiency 61	Recurrent otitis media, Recurrent sinusitis, Recurrent bacterial infections, Frequent Giardia lam...	OMIM:300310
Tn Polyagglutination Syndrome	Abnormal erythrocyte morphology	OMIM:300622
Nephronophthisis	Renal insufficiency	ORPHA:655
Bardet-Biedl Syndrome 18	Renal insufficiency	OMIM:615995
Agammaglobulinemia 6, Autosomal Recessive	Recurrent bronchitis, Recurrent pneumonia, Recurrent otitis media, Recurrent bacterial infections...	OMIM:612692
Iminoglycinuria	Hyperglycinuria, Hydroxyprolinuria, Prolinuria	OMIM:242600
Iminoglycinuria	Hyperglycinuria, Hydroxyprolinuria, Prolinuria	ORPHA:42062
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Hematuria, Weight loss	ORPHA:69077
Joubert Syndrome 35	Renal fibrosis, Recurrent urinary tract infections, Hydronephrosis, Multicystic kidney dysplasia	OMIM:618161
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia, Osteolysis, Bone cyst, Recurrent fractures, Coarse metaphyseal tr...	ORPHA:93160
Paget Disease Of Bone 6	Nephrocalcinosis	OMIM:616833
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Aminoaciduria	ORPHA:2278
Adenine Phosphoribosyltransferase Deficiency	Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Atrial fibrillation, ...	ORPHA:976
Cystathioninuria	Nephrolithiasis, Cystathioninemia, Cystathioninuria	ORPHA:212
Schimmelpenning-Feuerstein-Mims Syndrome	Hypophosphatemic rickets, Horseshoe kidney, Hyperphosphaturia	OMIM:163200
Camptodactyly-Taurinuria Syndrome	Aminoaciduria, Increased urinary taurine	ORPHA:1325
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypocalciuria, Hypercalcemia, Pancreatitis, Parathormone-independent increased r...	OMIM:145981
Retinitis Pigmentosa 59	Renal insufficiency, Micropenis, Elevated hepatic transaminase	OMIM:613861
Frasier Syndrome	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis	OMIM:136680
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Nephrotic syndrome	OMIM:614652
Galactosemia Ii	Hypergalactosemia, Galactosuria	OMIM:230200
Peroxisome Biogenesis Disorder 10B	Neurogenic bladder, Nephrocalcinosis	OMIM:617370
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria	OMIM:204750
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Dysphagia, Failure to thrive in infancy, Decreased glomerular filtration rate, Tubulointerstitial...	ORPHA:488627
Hereditary Xanthinuria	Decreased urinary urate, Hematuria, Acute kidney injury, Xanthinuria, Xanthine nephrolithiasis, I...	ORPHA:3467
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Renal phosphate wasting, Rickets, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Nephrotic Syndrome, Type 8	Thin glomerular basement membrane, Chronic kidney disease, Hypoalbuminemia, Nephrotic syndrome, D...	OMIM:615244
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Renal hypoplasia, Elevated circulating creatinine concentration, Glomerulonephritis, Stage 5 chro...	OMIM:614376
Gracile Syndrome	Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Ami...	OMIM:603358
Thrombotic Thrombocytopenic Purpura	Hematuria, Acute kidney injury, Decreased serum creatinine, Renal insufficiency, Abnormal lactate...	ORPHA:54057
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis	OMIM:611590
Hyperparathyroidism 2 With Jaw Tumors	Papillary renal cell carcinoma, Recurrent pancreatitis, Renal cortical adenoma, Nephroblastoma, P...	OMIM:145001
Galloway-Mowat Syndrome 4	Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Diffuse mesangial scler...	OMIM:617730
Hypophosphatasia, Childhood	Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Low alkaline phosphatase, Phosphoeth...	OMIM:241510
Diffuse Neonatal Hemangiomatosis	Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia	ORPHA:2123
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Renal Tubular Acidosis, Distal, 1	Renal tubular acidosis, Hypocalcemia, Nephrocalcinosis	OMIM:179800
Hyperinsulinism Due To Hnf1A Deficiency	Hypoglycemic seizures, Fasting hypoglycemia, Maturity-onset diabetes of the young, Maternal diabe...	ORPHA:324575
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Hyperphosphaturia	ORPHA:352540
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydronephrosis, Hydroureter	OMIM:264140
Agammaglobulinemia 4, Autosomal Recessive	Recurrent bacterial infections, Recurrent otitis media, Recurrent respiratory infections, Recurre...	OMIM:613502
Denys-Drash Syndrome	Nephropathy, Hypertension, Nephroblastoma, Nephrotic syndrome, Proteinuria	ORPHA:220
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Abnormal lactate dehydrogenase level, Hematuria, Proteinuria	ORPHA:2134
Paternal Uniparental Disomy Of Chromosome 1	Abnormal dental enamel morphology, Craniosynostosis, Increased blood urea nitrogen, Enlarged kidn...	ORPHA:251004
Trimethylaminuria	Tachycardia, Hypertension, Trimethylaminuria	OMIM:602079
Hyperphosphatemia, Polyuria, And Seizures	Polyuria, Hyperphosphatemia	OMIM:239350
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Elevated circulating creatine kinase concentration, Hyperkalemia, Acute kidney injury, Myoglobinuria	OMIM:268200
5-Oxoprolinase Deficiency	Prolinuria, Calcium oxalate nephrolithiasis, Increased level of L-pyroglutamic acid in urine	OMIM:260005
Nephrolithiasis, Calcium Oxalate	Ureteropelvic junction obstruction, Calcium oxalate nephrolithiasis, Acute kidney injury, Hyperox...	OMIM:167030
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Decreased plasma carnitine, Glutaric aciduria, Increased level of 3-hydroxy-3-methylglutaric acid...	OMIM:246450
Infundibulopelvic Dysgenesis	Microscopic hematuria, Multicystic kidney dysplasia	OMIM:600989
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Proteinuria	OMIM:245900
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Homocystinuria, Hyperhomocystinemia	OMIM:236250
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Hyperuricemia, Vesicoureteral reflux, Chronic kidney disease, Renal agenesis, Abnorm...	ORPHA:261222
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Hypotonia-Cystinuria Syndrome	Polyphagia, Nephrolithiasis, Failure to thrive, Cystinuria	ORPHA:163690
Pauci-Immune Glomerulonephritis	Pulmonary hemorrhage, Small vessel vasculitis, Acute kidney injury, Arteritis, Nephrotic range pr...	ORPHA:93126
Immunodeficiency 51	Recurrent bronchitis, Chronic oral candidiasis, Recurrent Staphylococcus aureus infections, Recur...	OMIM:613953
Crome Syndrome	Renal tubular epithelial necrosis	OMIM:218900
Joubert Syndrome 4	Nephronophthisis, Renal insufficiency, Abnormal renal medulla morphology	OMIM:609583
Cystinosis	Hypophosphatemia, Rickets, Aminoaciduria, Nephropathy, Hypokalemia, Failure to thrive, Renal insu...	ORPHA:213
Glycogen Storage Disease Ia	Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hypertension, Hyperlipidemia,...	OMIM:232200
Gitelman Syndrome	Palpitations, Hypocalciuria, Hypotension, Nocturia, Renal potassium wasting, Polyuria, Enuresis, ...	OMIM:263800
Immunodeficiency With Hyper-Igm, Type 2	Recurrent infection of the gastrointestinal tract, Recurrent respiratory infections, Recurrent up...	OMIM:605258
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Paget Disease Of Bone 5, Juvenile-Onset	Osteoporosis, Macular scar, Ankylosis, Hydroxyprolinemia, Hydroxyprolinuria, Recurrent fractures,...	OMIM:239000
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Renal salt wasting, Increased circulating renin level, Failure to thrive, Hyperkalemia	OMIM:203400
Primary Hyperoxaluria	Calcium oxalate nephrolithiasis, Hematuria, Elevated urine glycolate, Hyperoxaluria, Hypercalciur...	ORPHA:416
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Nephrolithiasis	OMIM:614723
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Renal insufficiency, Myoglobinuria	OMIM:255110
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Megacystis, Hypernatremia, Polyuria, Failure to thrive, Polydipsia	OMIM:125800
Infantile Nephropathic Cystinosis	Hypophosphatemia, Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Abnormal bl...	ORPHA:411629
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Proximal tubulopathy, Aminoaciduria, Weight loss, Cachexia, Failure to thrive	OMIM:612075
Enamel-Renal Syndrome	Impaired renal concentrating ability, Hypocalciuria, Enuresis, Nephropathy, Renal insufficiency, ...	ORPHA:1031
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemia, Renal phosphate wasting, Hypophosphatemic rickets, Osteomalacia, Enamel hypomin...	OMIM:307800
Galactosemia Iii	Hypergalactosemia, Aminoaciduria, Galactosuria	OMIM:230350
Diabetes Insipidus, Nephrogenic, X-Linked	Megacystis, Hypernatremia, Polyuria, Failure to thrive, Polydipsia	OMIM:304800
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia	OMIM:614164
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Oculoskeletodental Syndrome	Hypocalcemia, Mucopolysacchariduria, Hypercalciuria, Hypercalcemia, Small for gestational age, Re...	OMIM:618440
Amyloidosis, Familial Visceral	Hematuria, Nephropathy, Hypertension, Nephrotic syndrome, Proteinuria	OMIM:105200
Coach Syndrome 3	Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr...	OMIM:619113
Bardet-Biedl Syndrome 16	Renal insufficiency, Recurrent otitis media, Renal dysplasia, Renal cyst, Renal agenesis, Abnorma...	OMIM:615993
Carbamoyl-Phosphate Synthetase 1 Deficiency	Hypoargininemia, Hyperammonemia, Aminoaciduria, Episodic ammonia intoxication	ORPHA:147
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Renal tubular acidosis, Nephrocalcinosis, Nephropathy, Conjugated hyperbilirubinemia	OMIM:613404
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyperkalemia, Renal salt wasting, Hyponatremia, Failure to thrive	OMIM:614736
Immunodeficiency, Common Variable, 4	Recurrent sinusitis, Recurrent bacterial infections, Recurrent pneumonia	OMIM:613494
Diamond-Blackfan Anemia 3	Increased mean corpuscular volume, Macrocytic anemia, Persistence of hemoglobin F, Reticulocytopenia	OMIM:610629
Combined Oxidative Phosphorylation Deficiency 36	Aciduria	OMIM:617950
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Hyperbili...	OMIM:616689
Liddle Syndrome	Arrhythmia, Nephropathy, Hypertension, Hypokalemia, Cerebral ischemia, Renal insufficiency	ORPHA:526
Hinman Syndrome	Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydronephrosis, Renal insuff...	ORPHA:84085
Hyperoxaluria, Primary, Type Iii	Calcium oxalate nephrolithiasis, Hyperoxaluria	OMIM:613616
Interstitial Pneumonitis, Desquamative, Familial	Failure to thrive, Tubulointerstitial fibrosis	OMIM:263000
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency, Hypertension	OMIM:618681
Phenylketonuria	Aminoaciduria	ORPHA:716
Glycogen Storage Disease Ib	Focal segmental glomerulosclerosis, Enlarged kidney, Hyperuricemia, Hypertension, Hyperlipidemia,...	OMIM:232220
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Renal insufficiency, Increased serum pyruvate...	ORPHA:2364
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Nephrocalcinosis	OMIM:615633
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hypercalciuria, Nephrocalcinosis, Renal cyst	OMIM:615398
Nephronophthisis 14	Nephronophthisis, Polycystic kidney dysplasia	OMIM:614844
Hypoparathyroidism, Sensorineural Deafness, And Renal Disease	Hematuria, Distal renal tubular acidosis, Unilateral renal dysplasia, Renal dysplasia, Proximal r...	OMIM:146255
Late-Onset Familial Hypoaldosteronism	Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Renal sodium wa...	ORPHA:556037
Galloway-Mowat Syndrome 7	Hypercholesterolemia, Focal segmental glomerulosclerosis, Renal tubular atrophy, Nephrotic syndro...	OMIM:618348
Glucose-Galactose Malabsorption	Hematuria, Hypernatremia, Weight loss, Hypercalcemia, Failure to thrive, Renal insufficiency, Nep...	ORPHA:35710
Glycogen Storage Disease Ic	Spider hemangioma, Hematuria, Focal segmental glomerulosclerosis, Hyperuricemia, Hypertension, De...	OMIM:232240
Lipodystrophy, Familial Partial, Type 3	Lipodystrophy, Hyperuricemia, Hypertriglyceridemia, Loss of gluteal subcutaneous adipose tissue, ...	OMIM:604367
Macdermot-Winter Syndrome	Hydronephrosis	OMIM:247990
Early-Onset Familial Hypoaldosteronism	Elevated serum 11-deoxycortisol, Hyponatremia, Increased circulating renin level, Renal sodium wa...	ORPHA:556030
Heinz Body Anemias	Nonspherocytic hemolytic anemia, Heinz body anemia, Heinz bodies	OMIM:140700
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Hematuria, Glomerular basement membrane lamellation, Stage 5 chronic kidney ...	OMIM:203780
Polycystic Kidney Disease 5	Polycystic kidney dysplasia, Stage 5 chronic kidney disease, Hyperechogenic kidneys	OMIM:617610
Homocarnosinosis	Carnosinuria	OMIM:236130
Valinemia	Hypervalinemia, Valinuria	OMIM:277100
Nephronophthisis 18	Nephronophthisis, Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney dis...	OMIM:615862
Senior-Loken Syndrome 3	Nephronophthisis, Polyuria, Enuresis, Renal corticomedullary cysts, Stage 5 chronic kidney diseas...	OMIM:606995
Nephronophthisis 13	Renal hypoplasia, Nephronophthisis, Mild proteinuria, Stage 5 chronic kidney disease	OMIM:614377
Nephrogenic Diabetes Insipidus	Hyposthenuria, Hydroureter, Hypovolemia, Hypernatremia, Functional abnormality of the bladder, Fa...	ORPHA:223
2P21 Microdeletion Syndrome	Hypocalcemia, Nephrolithiasis, Failure to thrive, Cystinuria	ORPHA:163693
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypospadias, Renal salt wasting	OMIM:201910
Senior-Loken Syndrome	Nephronophthisis, Chronic kidney disease, Stage 5 chronic kidney disease	ORPHA:3156
Non-Functioning Paraganglioma	Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Weight loss, Elevated urin...	ORPHA:94080
Nephrotic Syndrome, Type 14	Focal segmental glomerulosclerosis, Hypertriglyceridemia, Hypoalbuminemia, Stage 5 chronic kidney...	OMIM:617575
Hartnup Disorder	Neutral hyperaminoaciduria	OMIM:234500
Pseudohypoaldosteronism, Type I, Autosomal Recessive	Hyponatremia, Renal salt wasting, Hyperaldosteronism, Failure to thrive, Hyperkalemia	OMIM:264350
Hydroxykynureninuria	Hypotension, Renal tubular dysfunction, Tachycardia, Aminoaciduria	OMIM:236800
Complement Factor B Deficiency	Meningitis, Recurrent meningococcal disease, Recurrent bacterial infections	OMIM:615561
Maternally-Inherited Diabetes And Deafness	Arrhythmia, Proteinuria, Abnormal circulating lipid concentration, Hypertension, Glomerulopathy, ...	ORPHA:225
Familial Hyperaldosteronism Type Iii	Hypercalciuria, Hypokalemia	ORPHA:251274
Ocular Motor Apraxia	Nephronophthisis	OMIM:257550
Primary Parathyroid Hyperplasia	Hypophosphatemia, Osteoporosis, Chondrocalcinosis, Hypercalciuria, Hypercalcemia, Renal insuffici...	ORPHA:99878
Nephrotic Syndrome, Type 10	Steroid-resistant nephrotic syndrome, Podocyte foot process effacement, Minimal change glomerulon...	OMIM:615861
Central Diabetes Insipidus	Nocturia, Hyponatremia, Weight loss, Failure to thrive, Polydipsia	ORPHA:178029
Stimmler Syndrome	Aminoaciduria	ORPHA:3199
Hypophosphatemic Rickets	Hypophosphatemia, Renal phosphate wasting, Hyperphosphaturia, Hypocalciuria, Rickets, Craniofacia...	ORPHA:437
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia, Hyperlipidemia	ORPHA:364
Linear Verrucous Nevus Syndrome	Hypophosphatemia, Reduced bone mineral density, Abnormality of the kidney	ORPHA:2611
Congenital Nephrotic Syndrome, Finnish Type	Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Proteinuria, Nephrot...	ORPHA:839
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypophosphatemia, Enamel hypoplasia, Rickets, Generalized aminoaciduria, Recurrent fractures, Fai...	OMIM:264700
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hypernatriuria, Decreased circulating renin level, Hyponatremia, Decreased serum creatinine	OMIM:300539
Nephrosialidosis	Renal insufficiency, Nephropathy, Nephrotic syndrome	OMIM:256150
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Juvenile Nephropathic Cystinosis	Hypophosphatemia, Hypocalcemia, Renal phosphate wasting, Low-molecular-weight proteinuria, Hypour...	ORPHA:411634
Xanthinuria, Type Ii	Hypouricemia, Renal insufficiency, Nephrolithiasis	OMIM:603592
Macular Dystrophy, Retinal, 1, North Carolina Type	Generalized aminoaciduria	OMIM:136550
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Obesity	OMIM:603233
Homozygous 11P15-P14 Deletion Syndrome	Generalized aminoaciduria, Renal tubular dysfunction	OMIM:606528
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis	ORPHA:3327
Dysmyelination With Jaundice	Hydronephrosis, Hypoplasia of penis, Hydroureter	OMIM:224250
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance	Hypocalciuria, Renal potassium wasting, Polyuria, Enuresis, Renal salt wasting, Increased circula...	OMIM:612780
Parathyroid Carcinoma	Osteoporosis, Hypophosphatemia, Lipoma, Chondrocalcinosis, Weight loss, Hypercalciuria, Hypercalc...	ORPHA:143
Glutamate Formiminotransferase Deficiency	Positive ferric chloride test, Aminoaciduria	OMIM:229100
Nephronophthisis 2	Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena...	OMIM:602088
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Elevated circulating creatinine concentration, Recurrent urinary tract infections, Polycystic kid...	OMIM:613095
Hyperprolinemia, Type I	Hyperglycinuria, Hydroxyprolinuria, Prolinuria, Hyperprolinemia	OMIM:239500
3-Hydroxyisobutyric Aciduria	Aminoaciduria	OMIM:236795
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia, Osteopenia	OMIM:619073
Nephrotic Syndrome, Type 21	Steroid-resistant nephrotic syndrome, Diffuse mesangial sclerosis, Podocyte foot process effaceme...	OMIM:618594
Teratoma, Pineal	Polydipsia, Polyuria	OMIM:273120
Thrombotic Thrombocytopenic Purpura, Hereditary	Abnormal renal physiology, Increased blood urea nitrogen, Elevated circulating creatinine concent...	OMIM:274150
Juvenile Paget Disease	Osteoporosis, Recurrent fractures, Hyperuricemia, Coarse metaphyseal trabecularization, Cranial h...	ORPHA:2801
Anemia, Sideroblastic, Pyridoxine-Responsive, Autosomal Recessive	Hypochromia, Pyridoxine-responsive sideroblastic anemia, Sideroblastic anemia, Decreased mean cor...	OMIM:206000
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Vesicoureteral reflux, Hydronephrosis, Hy...	OMIM:191800
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria	ORPHA:417
Erythrocytosis, Familial, 7	Polycythemia, Increased hematocrit	OMIM:617981
Coenzyme Q10 Deficiency, Primary, 1	Glomerular sclerosis, Elevated circulating creatine kinase concentration, Hepatic failure, Nephro...	OMIM:607426
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Acquired Central Diabetes Insipidus	Polydipsia, Pollakisuria, Weight loss	ORPHA:95626
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Renal tubular acidosis, Nephrocalcinosis, Nephropathy, Conjugated hyperbilirubinemia	OMIM:208085
Erythrocytosis, Familial, 5	Polycythemia, Increased hematocrit, Increased hemoglobin	OMIM:617907
Erythrocytosis, Familial, 6	Polycythemia, Increased hematocrit, Increased hemoglobin	OMIM:617980
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Nephropathy, Hypertension, Proteinuria	OMIM:166300
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Flexion contracture, Abnormal renal corticomedulla...	OMIM:616733
Hypocalcemic Vitamin D-Dependent Rickets	Hypophosphatemia, Hypocalcemia, Enamel hypoplasia, Delayed epiphyseal ossification, Rickets, Gene...	ORPHA:289157
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria	OMIM:204730
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Podocyte foot process effacement, Colitis, Nephrotic syndrome, Minimal change glomerulonephritis,...	OMIM:617006
Hyperparathyroidism-Jaw Tumor Syndrome	Osteoporosis, Hypophosphatemia, Lipoma, Chondrocalcinosis, Hypercalciuria, Hypercalcemia, Renal h...	ORPHA:99880
Lipodystrophy, Partial, Acquired, Susceptibility To	Hematuria, Abnormal circulating lipid concentration, Membranoproliferative glomerulonephritis, Ne...	OMIM:608709
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hydronephrosis, Duplicated collecting system	OMIM:617093
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome	OMIM:249660
Ethylene Glycol Poisoning	Hypocalcemia, Hematuria, Renal tubular dysfunction, Renal tubular epithelial necrosis, Renal insu...	ORPHA:31826
Hepatic Veno-Occlusive Disease	Increased total bilirubin, Jaundice, Renal insufficiency, Elevated hepatic transaminase	ORPHA:890
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Cystinuria	Renal insufficiency, Hyperuricemia, Hematuria, Nephrolithiasis

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