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Gene: Arhgdia MGI:2178103

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

Rho GDP dissociation inhibitor alpha

Synonyms:

5330430M07Rik, Rho-GDI, Rho GDIalpha

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 Arhgdia 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 Arhgdia (2 diseases)
Human diseases predicted to be associated with Arhgdia (1238 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Nephrotic Syndrome, Type 8		Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Genetic Steroid-Resistant Nephrotic Syndrome		Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656

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

Disease	Matching phenotypes	Source
Hereditary Amyloidosis With Primary Renal Involvement	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo...	ORPHA:85450
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k...	OMIM:614817
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Reni Syndrome	Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Mesangial hypercellu...	OMIM:617575
Renal Hypoplasia, Bilateral	Hyponatremia, Proteinuria, Cryptorchidism, Chronic kidney disease, Hyperkalemia, Renal hypoplasia...	ORPHA:97362
Bardet-Biedl Syndrome 10	Renal insufficiency, Hypogonadism, Renal cyst	OMIM:615987
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Nephrotic Syndrome, Type 24	Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac...	OMIM:619263
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Nephrotic Syndrome, Type 23	Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome...	OMIM:619201
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Elevated circulating creatine...	OMIM:614455
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,...	OMIM:615993
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease...	OMIM:162000
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Frasier Syndrome	Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca...	OMIM:136680
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos...	OMIM:308990
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy	Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus	OMIM:182690
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Gout, Focal se...	OMIM:617056
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, M...	ORPHA:347
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Hypogonadism, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:616629
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Lead Poisoning	Decreased HDL cholesterol concentration, Decreased female libido, Skin rash, Abnormality of the m...	ORPHA:330015
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Elevated circulating creatinine concentration, Decreased glomerular filtration rate	OMIM:242530
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Oligomeganephronia	Renal insufficiency, Proteinuria, Unilateral renal agenesis, Abnormal renal cortex morphology, Gl...	ORPHA:2260
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Supernumerary nipple, Elevated circulating creatinine concentrat...	OMIM:614376
Coenzyme Q10 Deficiency, Primary, 3	Nephrotic syndrome, Hypoalbuminemia, Proteinuria	OMIM:614652
Focal Segmental Glomerulosclerosis 9	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome	OMIM:616220
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp...	OMIM:256300
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Galloway-Mowat Syndrome 6	Proteinuria, Decreased response to growth hormone stimulation test, Nephrotic syndrome, Focal seg...	OMIM:618347
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Hypocalcemia, Autosomal Dominant 1	Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia, Increased circ...	OMIM:601198
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo...	OMIM:619155
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri...	OMIM:615862
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr...	OMIM:607426
Oculorenocerebellar Syndrome	Glomerular sclerosis, Nephropathy	OMIM:257970
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T...	ORPHA:470
Alstrom Syndrome	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Hypergonadotr...	OMIM:203800
Glycogen Storage Disease Ib	Proteinuria, Pancreatic fibrosis, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Gout, Focal segm...	OMIM:232220
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Elevated circulating C-reactive protein concentration, Retrograde ejaculation,...	ORPHA:49041
Bardet-Biedl Syndrome 4	External genital hypoplasia, Abnormality of the kidney, Cryptorchidism, Renal cyst, Hypogonadism	OMIM:615982
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Hypercalcemia, Infantile, 2	Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate...	OMIM:616963
Glycogen Storage Disease Ia	Proteinuria, Hyperlipidemia, Nephrolithiasis, Gout, Focal segmental glomerulosclerosis, Xanthelas...	OMIM:232200
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Hyperprolinemia, Prolinuria	ORPHA:419
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalonic aciduria, T...	OMIM:251000
Carnitine Palmitoyltransferase Ii Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:157
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased...	OMIM:618061
Partial Chromosome Y Deletion	Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato...	ORPHA:1646
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Polycystic ovaries, Hematuria, Nephrotic s...	OMIM:608709
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Eczema, Minimal change glomerulonephritis, Stage 5 chro...	OMIM:618348
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, E...	ORPHA:228308
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt...	OMIM:613845
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Spermatogenic Failure 30	Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest	OMIM:618110
Hypercalcemia, Infantile, 1	Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci...	OMIM:143880
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Preeclampsia	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated circulating creatinine c...	ORPHA:275555
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Hyperkalemia, Renal hypoplasia, Tubulointers...	OMIM:617595
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Morbid Obesity And Spermatogenic Failure	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Oligozoospermia, Increased LDL cho...	OMIM:615703
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Spermatogenic Failure 65	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619712
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Cyclic neutropenia, Chronic pancreatitis, Hyperlipidemia, Gout,...	OMIM:232240
Spermatogenic Failure 48	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia	OMIM:619108
46,Xy Sex Reversal 4	Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Agonadism, Hydrone...	OMIM:154230
Spermatogenic Failure 56	Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ...	OMIM:619515
Spermatogenic Failure 57	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size	OMIM:619145
Lessel-Kubisch Syndrome	Renal insufficiency, Hypogonadism, Renal hypoplasia	OMIM:618681
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Acne, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism	ORPHA:3000
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis	OMIM:619428
Spermatogenic Failure 25	Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia	OMIM:617960
Hemorrhagic Fever-Renal Syndrome	Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Thrombocytopenia, Leukocytosis, Chronic kidne...	ORPHA:340
Spermatogenic Failure, X-Linked, 3	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s...	OMIM:301059
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,...	ORPHA:37042
Spermatogenic Failure 54	Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit...	OMIM:619379
Bardet-Biedl Syndrome 17	Polyuria, Stage 5 chronic kidney disease, Renal cyst, Hypogonadism, Micropenis	OMIM:615994
Spermatogenic Failure 32	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:618115
Spermatogenic Failure 71	Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype	OMIM:619831
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Spermatogenic Failure 80	Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag...	OMIM:620222
Spermatogenic Failure 40	Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ...	OMIM:618664
Spermatogenic Failure 76	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp...	OMIM:620084
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ...	ORPHA:488627
Spastic Paraplegia-Nephritis-Deafness Syndrome	Nephropathy, Proteinuria	ORPHA:2820
Spermatogenic Failure 58	Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla...	OMIM:619585
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:18
Spermatogenic Failure 22	Male infertility, Non-obstructive azoospermia, Cryptozoospermia	OMIM:617706
Spermatogenic Failure 70	Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia	OMIM:619828
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem...	ORPHA:439232
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Spermatogenic Failure 39	Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel...	OMIM:618643
Spermatogenic Failure 47	Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella	OMIM:619102
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium...	OMIM:618314
Cednik Syndrome	Hypogonadism, Nephrotic syndrome, Proteinuria	ORPHA:66631
Spermatogenic Failure 63	Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia	OMIM:619689
Alg1-Cdg	Nephrotic syndrome, Renal insufficiency, Hypoalbuminemia, Abnormality of the kidney	ORPHA:79327
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Senior-Loken Syndrome	Premature ovarian insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrono...	ORPHA:3156
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Nephropathy, Chronic kidney disease, Abnormal tubulointerstitial morphology	OMIM:602114
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Dent Disease	Renal insufficiency, Hyperphosphaturia, Renal hypophosphatemia, Elevated circulating creatine kin...	ORPHA:1652
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease	OMIM:615995
Galactokinase Deficiency	Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Hepatosplenomegaly, Increased le...	ORPHA:79237
Spermatogenic Failure 1	Male infertility, Cryptozoospermia, Oligozoospermia	OMIM:258150
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Spermatogenic Failure 79	Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia	OMIM:620196
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Spermatocele, Nephrolithiasis, Obstructive azoospermia	OMIM:301060
Orthostatic Hypotension 2	Anemia, Decreased glomerular filtration rate	OMIM:618182
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:615081
Spermatogenic Failure 10	Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia	OMIM:614822
Bardet-Biedl Syndrome 14	Renal insufficiency	OMIM:615991
Spermatogenic Failure 62	Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Non-obstructive azoospermia	OMIM:619672
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki...	OMIM:248250
Schimke Immunoosseous Dysplasia	Renal insufficiency, Pancytopenia, Proteinuria, Bilateral cryptorchidism, Thrombocytopenia, Stage...	OMIM:242900
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu...	OMIM:613779
Type 1 Diabetes Mellitus	Polyuria, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Spermatogenic Failure 7	Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia	OMIM:612997
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Recurrent urinary tract infections, Renal insufficiency, Proteinuria, Chilblain...	OMIM:619487
Trisomy X	Multicystic kidney dysplasia, Secondary amenorrhea, Renal hypoplasia/aplasia	ORPHA:3375
Spermatogenic Failure 51	Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp...	OMIM:619177
Spermatogenic Failure 41	Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella	OMIM:618670
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Mucopolysaccharidosis-Plus Syndrome	Proteinuria, Thrombocytopenia, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia, Nephrotic ...	OMIM:617303
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:54057
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Drug Reaction With Eosinophilia And Systemic Symptoms	Renal insufficiency, Skin rash, Eosinophilia, Pustule, Myocarditis, Hepatitis, Thyroiditis, Tubul...	ORPHA:139402
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia	ORPHA:2134
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem...	ORPHA:91500
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Cryptorchidism, Nephrotic syndrome, Nephropathy, Anemia	ORPHA:1192
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Proteinuria, Minimal change glomerulonephritis, Thrombocytopenia, Hyperlipidemia, St...	ORPHA:1830
Combined Oxidative Phosphorylation Deficiency 9	Hyperalaninemia, Tubulointerstitial nephritis	OMIM:614582
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Unilateral renal agenesis, Cryptorchidism, Acute leukemia, Hypogonadism, Tes...	ORPHA:281090
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Congenital Disorder Of Glycosylation, Type Ia	Pericarditis, Premature ovarian insufficiency, Proteinuria, Hypergonadotropic hypogonadism, Renal...	OMIM:212065
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Eosinophilia, Sinusitis, Increased in...	ORPHA:183
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Preeclampsia/Eclampsia 1	Proteinuria, Thrombocytopenia	OMIM:189800
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria	ORPHA:225
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir...	ORPHA:36234
Bardet-Biedl Syndrome 19	Renal insufficiency, External genital hypoplasia, Renal hypoplasia, Hypogonadism, Hydronephrosis	OMIM:615996
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Spermatogenic Failure 8	Azoospermia, Cryptozoospermia, Oligozoospermia	OMIM:613957
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Galactosemia I	Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Increased leve...	OMIM:230400
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Prune Belly Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Recurrent urinary tract infections, Hydrourete...	ORPHA:2970
Combined Oxidative Phosphorylation Deficiency 34	Pancytopenia, Hypergonadotropic hypogonadism, Elevated circulating creatinine concentration, Incr...	OMIM:617872
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Mesangial Immune...	OMIM:613496
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ...	OMIM:137920
Retinitis Pigmentosa 59	Cryptorchidism, Renal insufficiency, Micropenis	OMIM:613861
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:614748
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Myh9-Related Disease	Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc...	ORPHA:182050
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Hydronep...	OMIM:613390
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia, Secondary amenorrhea	OMIM:301033
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog...	ORPHA:251004
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Nephronophthisis	Renal insufficiency, Anemia	ORPHA:655
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Elevated circulating creatinine concentrati...	ORPHA:247691
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Elevated circulating creatinine concentration, Abnormal renal corticomedullary d...	OMIM:616733
Spermatogenic Failure 35	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618341
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Al Amyloidosis	Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t...	ORPHA:85443
Ring Chromosome Y Syndrome	Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt...	ORPHA:261529
Isochromosomy Yp	Male infertility, Azoospermia, Ambiguous genitalia, Decreased testicular size	ORPHA:98797
Sporadic Pheochromocytoma/Secreting Paraganglioma	Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,...	ORPHA:276621
Congenital Disorder Of Glycosylation, Type Ib	Proximal tubulopathy, Hypoalbuminemia, Renal cyst, Steatorrhea	OMIM:602579
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Xfe Progeroid Syndrome	Renal insufficiency, Premature ovarian insufficiency, Hypoalbuminemia, Proteinuria	OMIM:610965
Dent Disease 2	Elevated circulating creatine kinase concentration, Chronic kidney disease, Hypercalciuria, Nephr...	OMIM:300555
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Septate vagina, Gonadal tissue inappropriate f...	OMIM:194080
Spermatogenic Failure 20	Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Schistocytosis, Elevat...	OMIM:274150
Orthostatic Hypotension 1	Reduced circulating prolactin concentration, Increased blood urea nitrogen, Retrograde ejaculatio...	OMIM:223360
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney d...	ORPHA:79147
Paroxysmal Nocturnal Hemoglobinuria	Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti...	ORPHA:447
Bartter Syndrome, Type 3	Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,...	OMIM:607364
Spermatogenic Failure 72	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:619867
Spermatogenic Failure 34	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent...	OMIM:618153
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst, Increased total bilirubin	OMIM:174050
Malaria	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut...	ORPHA:673
Renal Glucosuria	Glycosuria, Polyuria, Enuresis nocturna	OMIM:233100
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Anemia, Retrograd...	ORPHA:230
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Glomerular sclerosis, Elevated circulating creatinine concentration, Abnormal renal physiology, I...	OMIM:223900
Spermatogenic Failure 81	Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia	OMIM:620277
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology	OMIM:609886
Laurence-Moon Syndrome	Renal insufficiency, Hypoplasia of penis, Displacement of the urethral meatus, Cryptorchidism	ORPHA:2377
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:617729
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:613550
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Multiple renal cysts	ORPHA:3033
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l...	OMIM:300971
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Maculopapular exanthema, Skin rash, Increased circulating ferritin concentr...	ORPHA:540
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Vesicoureteral reflux, Cryptorchidism, Multiple renal cysts, Renal hypoplasia/aplasia	ORPHA:1166
Spermatogenic Failure, X-Linked, 5	Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A...	OMIM:301099
Spermatogenic Failure, X-Linked, 6	Abnormality of male external genitalia, Male infertility, Recurrent pneumonia, Coiled sperm flage...	OMIM:301101
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Thickened glomerular bas...	OMIM:146255
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Enuresis, Abnormality of the kidney	ORPHA:459061
Generalized Pustular Psoriasis	Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Pustule...	ORPHA:247353
Avian Influenza	Lymphopenia, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive ...	ORPHA:454836
Cholestasis, Progressive Familial Intrahepatic, 12	Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Increased serum bile acid concentration...	OMIM:620010
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Renal interstitial inflammation, Nephronopht...	OMIM:619113
Complement Factor H Deficiency	Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g...	OMIM:609814
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Pancreatic cysts, St...	OMIM:616307
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Polyuria, Cryptorchidism, Hypoalbuminemia, Hypocalcemia, Hypo...	OMIM:618183
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:620235
Spermatogenic Failure 33	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618152
Spermatogenic Failure 37	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:618429
Spermatogenic Failure 18	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:617576
Spermatogenic Failure 46	Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh...	OMIM:619095
Spermatogenic Failure 27	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:617965
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein c...	OMIM:613095
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Tubul...	ORPHA:33001
Wolcott-Rallison Syndrome	Hyponatremia, Renal insufficiency, Chronic kidney disease, Hyperammonemia, Iron deficiency anemia...	ORPHA:1667
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri...	ORPHA:79233
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Spermatogenic Failure 17	Male infertility	OMIM:617214
Acquired Partial Lipodystrophy	Glomerulopathy, Microscopic hematuria, Proteinuria, Lymphocytosis	ORPHA:79087
Gitelman Syndrome	Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Decreased urinary potassium, Hyperma...	ORPHA:358
Nephrosialidosis	Nephropathy, Nephrotic syndrome, Renal insufficiency, Bone-marrow foam cells	OMIM:256150
Cockayne Syndrome Type 1	Renal insufficiency, Proteinuria, Cryptorchidism, Uveitis, Conjunctivitis, Increased blood urea n...	ORPHA:90321
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune thrombocytopeni...	ORPHA:227990
Combined Oxidative Phosphorylation Deficiency 24	Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration	OMIM:616239
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Combined Oxidative Phosphorylation Deficiency 52	Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica...	OMIM:619386
Spermatogenic Failure 43	Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ...	OMIM:618751
Spermatogenic Failure 19	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:617592
Spermatogenic Failure 82	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro...	OMIM:620353
Spermatogenic Failure 49	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619144
Spermatogenic Failure 45	Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe...	OMIM:619094
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Hereditary Pheochromocytoma-Paraganglioma	Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level,...	ORPHA:29072
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroid...	ORPHA:227982
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Tubulointerstitial fibrosis...	ORPHA:79259
Alkaptonuria	Arthritis, Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate	OMIM:203500
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Hematuria, Increased mean c...	OMIM:617021
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Cystic renal dysplasia, Ectopic kidney	OMIM:613730
Spermatogenic Failure 29	Male infertility, Non-obstructive azoospermia, Immotile sperm	OMIM:618091
Peroxisome Biogenesis Disorder 6A (Zellweger)	Renal cyst	OMIM:614870
Immunodeficiency 91 And Hyperinflammation	Renal insufficiency, Membranoproliferative glomerulonephritis, Neutrophilia, Maculopapular exanth...	OMIM:619644
Adrenal Hypoplasia, Congenital	Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Renal salt was...	OMIM:300200
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Chilblains, Intestinal infla...	OMIM:619858
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:289390
Glycogen Storage Disease Xi	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorrhea, Splenomeg...	ORPHA:79240
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypernatremia, Megacystis, Polyuria	OMIM:125800
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypernatremia, Megacystis, Polyuria	OMIM:304800
Isolated Polycystic Liver Disease	Multiple renal cysts, Increased total bilirubin	ORPHA:2924
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Renal insufficiency, Hyperammonemia	ORPHA:28
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	ORPHA:64753
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Primary hyperparathyroidism...	OMIM:239200
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Lesch-Nyhan Syndrome	Renal insufficiency, Gout, Hematuria, Hyperuricemia, Anemia	ORPHA:510
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:619603
Diffuse Neonatal Hemangiomatosis	Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Thrombocytopenia, Abnormal vagina m...	ORPHA:2123
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Hypercalcemia, Anemia	ORPHA:2668
Isochromosomy Yq	Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc...	ORPHA:98798
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Cryptorchidism, Pyelonephritis, Oligozoospermia, Nephritis, Renal dyspl...	OMIM:314300
Tyrosinemia, Type I	Hypertyrosinemia, Renal insufficiency, Elevated circulating alpha-fetoprotein concentration, Sple...	OMIM:276700
Congenital Nephrotic Syndrome, Finnish Type	Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, Proteinuria, Abnormal renal tubule...	ORPHA:839
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T...	ORPHA:90068
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Spermatogenic Failure 83	Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog...	OMIM:620354
Hepatic Veno-Occlusive Disease	Renal insufficiency, Increased total bilirubin	ORPHA:890
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Dysmenorrhea, Abnormal ...	ORPHA:264580
Amyloidosis, Familial Visceral	Proteinuria, Skin rash, Splenomegaly, Hematuria, Nephrotic syndrome, Nephropathy	OMIM:105200
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Ketonuria, Increased...	ORPHA:247598
Meckel Syndrome, Type 9	Ambiguous genitalia, Multicystic kidney dysplasia	OMIM:614209
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec...	ORPHA:94059
Congenital Disorder Of Glycosylation, Type Ih	Cryptorchidism, Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Thrombocy...	OMIM:608104
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Hyperuricemia, Ve...	ORPHA:261222
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemia, Polyuria,...	OMIM:601678
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta...	OMIM:251300
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Wilson Disease	Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoaciduria, Hypoalbuminemia...	OMIM:277900
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst	OMIM:611773
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Cryptorchidism, Horseshoe kidney, Hypoalbuminemia, Vesicoureteral reflux, Erysipe...	OMIM:235510
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Premature ovarian insufficiency, Hypospadias, Decreased response to growth h...	ORPHA:96179
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hyperaldosteronism, Increased circulating re...	OMIM:612780
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypokalemia, Hyperaldosteronism, Decreased circula...	OMIM:613677
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal tubular dysfunction, Neutropenia, Pa...	ORPHA:289916
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonado...	OMIM:194072
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Proximal tubulopathy, Polyuria	OMIM:560000
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis, Anemia	ORPHA:375
Liver Failure, Infantile, Transient	3-hydroxydicarboxylic aciduria, Dicarboxylic aciduria, Lacticaciduria, Hypoalbuminemia, Hyperbili...	OMIM:613070
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ...	ORPHA:158684
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Laron Syndrome	Hypercholesterolemia, Hypoplasia of penis, Osteoarthritis	ORPHA:633
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3316
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Recurrent urinary tract infecti...	OMIM:615559
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Skin rash, Elevated circulating C-reactive protein concentration, Increased circula...	OMIM:616050
Thyrocerebrorenal Syndrome	Renal insufficiency, Euthyroid goiter, Nephritis, Thrombocytopenia	ORPHA:3327
Spermatogenic Failure 42	Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe...	OMIM:618745
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Muckle-Wells Syndrome	Renal insufficiency, Maculopapular exanthema, Elevated circulating C-reactive protein concentrati...	OMIM:191900
Rhyns Syndrome	Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia...	ORPHA:411536
Helix Syndrome	Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia...	OMIM:617671
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc...	OMIM:617093
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Genitopalatocardiac Syndrome	Gonadal dysgenesis, male, Hypospadias, Renal cyst	OMIM:231060
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia	ORPHA:3270
47,Xyy Syndrome	Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo...	ORPHA:8
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Denys-Drash Syndrome	Proteinuria, Male pseudohermaphroditism, Nephrotic syndrome, Gonadal dysgenesis, Nephropathy, Nep...	ORPHA:220
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Giant cell hepatitis, Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular...	OMIM:613404
Cystic Echinococcosis	Abscess, Abnormality of the testis size, Eosinophilia, Hepatic cysts, Renal cyst, Membranous neph...	ORPHA:400
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephrotic syndrome, Hypoplasia...	ORPHA:110
Renal Nutcracker Syndrome	Dyspareunia, Proteinuria, Dysmenorrhea, Vulval varicose vein, Hematuria, Renal artery stenosis, I...	ORPHA:71273
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedullary cysts, R...	OMIM:243910
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Transketolase Deficiency	Increased level of ribose in urine, Seborrheic dermatitis, Secondary amenorrhea, Uveitis, Renal c...	ORPHA:488618
Spermatogenic Failure 78	Male infertility, Microcephalic sperm head, Tapered sperm head	OMIM:620170
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin...	ORPHA:3467
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Acrorenal Syndrome	Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia	ORPHA:971
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Pancreatitis, A...	ORPHA:79312
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hypocalcemia, Hyperch...	OMIM:612526
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid...	ORPHA:85445
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypertriglyceridemia, Hypospadias, External genital hypoplasia, Ovotestis, Ambiguous genitalia, H...	OMIM:610644
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis	OMIM:204690
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Bifid scrotum, Renal insufficiency, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Renal hypo...	ORPHA:85321
Nephronophthisis 16	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi...	OMIM:615382
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Multicentric Carpotarsal Osteolysis Syndrome	Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease	OMIM:166300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Hepatosplenomegaly, Anemia, Ne...	ORPHA:505248
Renal Hypodysplasia/Aplasia 1	Proteinuria, Primary amenorrhea, Bicornuate uterus, Bilateral renal agenesis, Vaginal atresia, Re...	OMIM:191830
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-...	OMIM:615605
Hepatorenocardiac Degenerative Fibrosis	Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib...	OMIM:619902
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase ...	OMIM:608836
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Proteinuria, Pneumonia, Skin rash, Abnormal circulating fatty-acid concentratio...	ORPHA:2298
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Distal Limb Deficiencies-Micrognathia Syndrome	Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Immunodeficiency 27A	Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Salmo...	OMIM:209950
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia	OMIM:613752
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Hyperparathyroidism, Elevated circulating creatinine concentratio...	OMIM:620366
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma...	OMIM:611102
Gitelman Syndrome	Polyuria, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin level, Hypo...	OMIM:263800
Spermatogenic Failure 2	Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia	OMIM:108420
Spermatogenic Failure 38	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co...	OMIM:618433
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Diffuse Alveolar Hemorrhage	Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Hemat...	ORPHA:90060
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Increased urina...	OMIM:241200
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Nephrolithiasis, Papillary renal c...	OMIM:145001
Melas	Hypoparathyroidism, Proteinuria, Hypogonadotropic hypogonadism, Focal segmental glomerulosclerosi...	ORPHA:550
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hyperlipidemia, Proteinuria, Abnormality of the kidney	ORPHA:369
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Increased circulating very long-chain fatty acid concentration	OMIM:614859
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Vitamin B12-Unresponsive Methylmalonic Acidemia	Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Pancreatiti...	ORPHA:27
Alg12-Cdg	Hyponatremia, Hypospadias, Cryptorchidism, Recurrent pneumonia, Hypoalbuminemia, B lymphocytopeni...	ORPHA:79324
Lethal Infantile Mitochondrial Myopathy	Renal insufficiency	ORPHA:254857
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, Hypercalciuri...	ORPHA:99879
Temple Syndrome	Hypertriglyceridemia, Precocious puberty, Cryptorchidism, Recurrent otitis media, Hypercholestero...	OMIM:616222
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Sarcoidosis	Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hemo...	ORPHA:797
Marburg Hemorrhagic Fever	Reticulocytosis, Renal insufficiency, Lymphopenia, Maculopapular exanthema, Elevated circulating ...	ORPHA:99826
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Hyperuricemia, Acute kidney ...	ORPHA:411543
Jeune Syndrome	Nephropathy, Renal insufficiency, Nephronophthisis	ORPHA:474
Acquired Ichthyosis	Renal insufficiency, Recurrent skin infections	ORPHA:454
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria, Megaloblastic anemia	OMIM:261100
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Liddle Syndrome	Nephropathy, Renal insufficiency, Hypokalemia	ORPHA:526
Juvenile Nephropathic Cystinosis	Hyponatremia, Low-molecular-weight proteinuria, Renal insufficiency, Hypouricemia, Proteinuria, C...	ORPHA:411634
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Ectopic kidney, C...	ORPHA:3027
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Hyperprolinemia, Hypergly...	ORPHA:79101
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Proteinuria, Elevated circulating C-reactive protein concentration, Asplenia, I...	OMIM:614034
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Pseudo-Torch Syndrome 3	Proteinuria, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Acute kid...	OMIM:618886
Bardet-Biedl Syndrome 20	Proteinuria, Bilateral cryptorchidism, Male hypogonadism, Hypercholesterolemia, Micropenis, Pancr...	OMIM:619471
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Lymphadenitis, Epididymitis...	ORPHA:2035
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Colitis, Hypoalbuminemia	ORPHA:88643
Smith-Magenis Syndrome	Hypertriglyceridemia, Renal hypoplasia/aplasia, Precocious puberty, Abnormality of the ureter, Ab...	ORPHA:819
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Spermatogenic Failure 5	Male infertility, Multiflagellar spermatozoa, Macrozoospermia	OMIM:243060
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Trichohepatoenteric Syndrome 1	Hypospadias, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia,...	OMIM:222470
Cranioectodermal Dysplasia 1	Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubulointerstiti...	OMIM:218330
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva...	OMIM:620103
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Amyloidosis, Finnish Type	Nephrotic syndrome, Renal insufficiency	OMIM:105120
Congenital Generalized Lipodystrophy	Overgrowth of external genitalia, Hypertriglyceridemia, Precocious puberty in females, Increased ...	ORPHA:528
Joubert Syndrome 20	Renal cyst	OMIM:614970
Genetic Recurrent Myoglobinuria	Dark urine, Renal insufficiency, Myositis, Recurrent myoglobinuria, Exercise-induced myoglobinuri...	ORPHA:99845
Glycogen Storage Disease V	Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:232600
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas	OMIM:134610
Intermediate Uveitis	Optic neuritis, Tubulointerstitial nephritis, Psoriasiform dermatitis, Anterior uveitis	ORPHA:279914
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased blood urea nitrogen	OMIM:620085
Femoral-Facial Syndrome	Renal hypoplasia/aplasia, Cryptorchidism, Long penis, Abnormal localization of kidney, Polycystic...	ORPHA:1988
Bardet-Biedl Syndrome 9	Renal insufficiency, Irregular menstruation	OMIM:615986
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis	OMIM:610205
Teratoma, Pineal	Polyuria	OMIM:273120
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Spermatogenic Failure 21	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 44	Male infertility, Acephalic spermatozoa, Reduced sperm motility	OMIM:619044
Transcobalamin Deficiency	Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop...	ORPHA:859
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria, Elevated circulating creatinine concentration, Elevated circulating creatine kinas...	OMIM:620138
Malakoplakia	Inflammatory abnormality of the skin, Proteinuria, Dysuria, Skin rash, Abnormality of the menstru...	ORPHA:556
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypophosphatemia, N...	OMIM:300554
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret...	ORPHA:261265
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Rhinitis, Hypoalb...	ORPHA:507
Car T Cell Therapy-Associated Cytokine Release Syndrome	Increased inflammatory response, Skin rash, Elevated circulating creatinine concentration, Hyperb...	ORPHA:542323
Isolated Follicle Stimulating Hormone Deficiency	Hyperplasia of the Leydig cells, Decreased female libido, Hypogonadotropic hypogonadism, Female h...	ORPHA:52901
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
46,Xy Partial Gonadal Dysgenesis	Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Micropenis, Ovarian gonadoblasto...	ORPHA:251510
Immunodeficiency 32B	Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Thrombocytopenia, Splenomegaly, Bronchiectasis,...	OMIM:226990
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise...	ORPHA:368
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hyperphosphaturia, Proteinuria, Hypouricemia, Nephrocalcinosis, Glycosuria, Aminoaciduria, Hypoph...	OMIM:616026
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica...	OMIM:134600
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Babesiosis	Hemolytic anemia, Renal insufficiency, Splenomegaly, Leukopenia, Thrombocytopenia	ORPHA:108
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Malar rash...	ORPHA:93552
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Meckel Syndrome, Type 8	Ambiguous genitalia, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys	OMIM:613885
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Ambiguous genitalia, Renal agenesis, Unilateral renal agenesis, Ectopic kidn...	OMIM:617641
Gapo Syndrome	Dysmenorrhea, Nephrolithiasis, Oligozoospermia, Hypogonadism, Amenorrhea	ORPHA:2067
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized aminoaciduria, Hy...	OMIM:251880
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Acne, Precocious puberty, Oligozoospermia,...	ORPHA:786
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Bile duct proliferation, 3-Methylglutaconic aciduria, Hypoalbuminemia	OMIM:618329
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Cystinosis	Renal insufficiency, Proteinuria, Renal tubular dysfunction, Hypokalemia, Aminoaciduria, Hypophos...	ORPHA:213
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Macrophage Activation Syndrome	Increased inflammatory response, Hypertriglyceridemia, Elevated circulating C-reactive protein co...	ORPHA:158061
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Renal insufficiency, Membranoproliferative glomerulonephrit...	OMIM:137940
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Penos...	OMIM:270400
Axial Osteomalacia	Elevated circulating creatine kinase concentration, Renal cyst	OMIM:109130
Hyperuricemia, Hprt-Related	Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra	OMIM:300323
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cryptorchidism, Aminoaciduria, Hypoplasia of the thymus, Polycystic kidney dysplasia, Elevated ci...	OMIM:214110
Congenital Bilateral Absence Of Vas Deferens	Male infertility, Absent vas deferens, Abnormal renal morphology, Oligozoospermia, Obstructive az...	ORPHA:48
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal tubular acidosi...	ORPHA:324525
Bardet-Biedl Syndrome 6	Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst	OMIM:605231
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt...	ORPHA:284426
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Gout, Hyperuricosuria, Hyperurice...	OMIM:300661
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Gaisböck Syndrome	Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Gout, Ne...	ORPHA:90041
Alagille Syndrome 1	Duplicated collecting system, Hypertriglyceridemia, Multiple small medullary renal cysts, Renal h...	OMIM:118450
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodon...	ORPHA:534
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i...	OMIM:232800
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Bilateral cryptorchidism, Increased serum bile acid concentration, Hyperbilirubinemia, Mild prote...	OMIM:619685
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Hyper...	ORPHA:713
Ohdo Syndrome	Cryptorchidism, Small scrotum, Proteinuria	OMIM:249620
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid...	OMIM:300653
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Renal agenesis, A...	ORPHA:93111
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla...	ORPHA:99880
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Myoglobinuria, Acute kid...	ORPHA:57
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Proteinuria, Cryptorchidism, Multiple bladder diverticula, Recurrent otitis media	ORPHA:2728
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hypopituitarism	OMIM:619013
Martin-Probst Syndrome	Bifid scrotum, Renal insufficiency, Pancytopenia, Proteinuria, Cryptorchidism, Chordee, Hypoplast...	OMIM:300519
Joubert Syndrome 18	Renal cyst, Horseshoe kidney	OMIM:614815
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Congenital Enterovirus Infection	Abnormal macrophage morphology, Skin rash, Thrombocytopenia, Leukocytosis, Myocarditis, Hepatitis...	ORPHA:292
Free Sialic Acid Storage Disease	Splenomegaly, Nephrotic syndrome, Proteinuria	ORPHA:834
Say Syndrome	Proximal renal tubular acidosis, Cystic renal dysplasia	OMIM:181180
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Myocarditis, Hepatiti...	ORPHA:549
Immunodeficiency 43	Lung abscess, Bronchiectasis, B lymphocytopenia, Decreased circulating beta-2-microglobulin level...	OMIM:241600
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Abnormal...	ORPHA:320
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Testicular neopla...	ORPHA:143
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Fetal megacystis	ORPHA:73246
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma...	OMIM:231680
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria	OMIM:124000
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Meckel Syndrome 13	Polycystic kidney dysplasia	OMIM:617562
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Acute colitis, Leukocytosis, Schistocytosis, Elevated circ...	ORPHA:90038
Smith-Magenis Syndrome	Hypercholesterolemia, Abnormality of the urinary system, Hypertriglyceridemia, Abnormal renal mor...	OMIM:182290
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Hypoalbuminemia	OMIM:227090
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Renal cyst, Nephrocalcinosis, 3-Methylglutaconic aciduria, Infection associa...	ORPHA:445038
Trisomy 13	Cryptorchidism, Abnormality of the ureter, Multiple renal cysts, Displacement of the urethral mea...	ORPHA:3378
Congenital Disorder Of Glycosylation, Type Iio	Decreased circulating ceruloplasmin concentration, Elevated circulating creatine kinase concentra...	OMIM:616828
Duplication Of Urethra	Urethral stricture, Bifid scrotum, Anuria, Urinary incontinence, Rectourethral fistula, Epispadia...	ORPHA:237
Triokinase And Fmn Cyclase Deficiency Syndrome	Hypoalbuminemia, Pancreatitis, Microcytic anemia	OMIM:618805
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc...	OMIM:246700
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Ambiguous genitalia, Hypogonadotropic hypogonadism, Cryptorchidism, Vesicour...	OMIM:617159
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Extramedullary hematopoiesis, Conjugated hyperbilirubinemia, Re...	ORPHA:79303
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	T lymphocytopenia	ORPHA:169095
Mu-Heavy Chain Disease	Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Anemia	ORPHA:100024
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Inflammatory abnormality of the skin, Microcytic anemia, Hy...	ORPHA:398063
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Cryptorchidism, Renal cyst, Horseshoe kidney	ORPHA:166035
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Chronic kidney disease, Renal hypoplasia, Unilateral renal agenesis	OMIM:617661
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Hypercholesterolemia, Recurrent otitis media, Cryptorchidism	ORPHA:96184
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Fanconi-Bickel Syndrome	Hyperphosphaturia, Ketonuria, Hypouricemia, Proteinuria, Hypercalciuria, Generalized aminoaciduri...	OMIM:227810
Functioning Gonadotropic Adenoma	Macroorchidism, postpubertal, Decreased female libido, Decreased response to growth hormone stimu...	ORPHA:91348
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Diffuse Cutaneous Systemic Sclerosis	Dyspareunia, Renal insufficiency, Oliguria, Arthritis	ORPHA:220393
Postinfectious Vasculitis	Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin...	ORPHA:48435
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Male pseudohermaphroditism, Gonadal dy...	ORPHA:2075
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Skin rash, Increased circulating ferritin conce...	OMIM:603553
Megabladder, Congenital	Hyperechogenic kidneys, Multiple glomerular cysts, Fetal megacystis, Stage 5 chronic kidney disease	OMIM:618719
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Viral hepatitis, Proteinuria, Splenomegaly, Hematuria, Arthr...	ORPHA:91138
Harrod Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hypospadias	ORPHA:2115
Ciliary Dyskinesia, Primary, 50	Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ...	OMIM:620356
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Abnormal T cell morphology	OMIM:215250
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia, Renovascular hypertension	ORPHA:401923
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Elevated circulating creatine kinase concentration, Eleva...	OMIM:309000
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cells, Increased ...	OMIM:256550
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Glomeru...	OMIM:233450
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Th...	OMIM:152700
Diaphanospondylodysostosis	Multiple renal cysts	ORPHA:66637
Immunodeficiency 104	Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, T lymphocytopenia, Otitis med...	OMIM:608971
Axial Mesodermal Dysplasia Spectrum	Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor...	ORPHA:1834
Congenital Disorder Of Glycosylation, Type Iif	Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Thrombocytopenia	OMIM:603585
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Male infertility, Pancytopenia, Renal agenesis, Hypergonadotropic h...	OMIM:227650
Lassa Fever	Menometrorrhagia, Conjunctivitis, Oliguria	ORPHA:99824
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Splenomegaly, Uveitis,...	ORPHA:36412
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiation, Pancreatic...	OMIM:263200
Hand-Foot-Genital Syndrome	Bifid scrotum, Renal insufficiency, Hypospadias, Uterus didelphys, Micropenis, Pyelonephritis, Ch...	OMIM:140000
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Hypoalbuminemia	ORPHA:1954
Combined Oxidative Phosphorylation Deficiency 11	Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Renal dysplasia	OMIM:614922
Cystinuria	Hematuria, Nephrolithiasis, Renal insufficiency, Hyperuricemia	ORPHA:214
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Abnormal circulating C-peptide concentration,...	ORPHA:552
Autoimmune Lymphoproliferative Syndrome	Uveitis, Colitis, Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8...	ORPHA:3261
Eosinophilic Gastroenteritis	Eosinophilia, Elevated circulating C-reactive protein concentration, Allergic rhinitis, Leukocyto...	ORPHA:2070
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ec...	ORPHA:887
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Ureteral agenesis, Renal dysplasia, Renal hypoplasia, Renal cyst	OMIM:236500
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Renal cell carcinoma, Renal cyst	OMIM:135150
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T...	OMIM:301050
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Elevated circulat...	ORPHA:900
Trisomy 1Q	Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Congenital megaureter, Ambiguous gen...	ORPHA:261344
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Parathyroid agenesis, Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagn...	ORPHA:2239
Coach Syndrome 2	Hyperechogenic kidneys, Elevated circulating creatinine concentration	OMIM:619111
Meckel Syndrome, Type 10	Micropenis, Hypospadias, Renal cyst	OMIM:614175
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Supernumerary nipple, Cryptorchidism, Chro...	ORPHA:261494
Peroxisome Biogenesis Disorder 4A (Zellweger)	Renal cyst, Increased circulating very long-chain fatty acid concentration	OMIM:614862
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Renal Agenesis	Renal insufficiency, Absent vas deferens, Renal agenesis, Proteinuria, Unilateral renal agenesis,...	ORPHA:411709
Majeed Syndrome	Glomerulopathy, Inflammatory abnormality of the skin, Osteomyelitis, Proteinuria, Acne, Congenita...	ORPHA:77297
Bardet-Biedl Syndrome 12	Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hydronephrosis	OMIM:615989
Distal Triplication 15Q	Abnormal external genitalia, Abnormality of the kidney, Dilatation of the renal pelvis, Horseshoe...	ORPHA:314588
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Renal insufficiency, Decreased female libido, Decreased circulat...	ORPHA:95409
Donnai-Barrow Syndrome	Bicornuate uterus, Proteinuria, Abnormality of the uterus	ORPHA:2143
Coach Syndrome 1	Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Stage 5 chronic ki...	OMIM:216360
Multiple Acyl-Coa Dehydrogenase Deficiency	Acute pancreatitis, Elevated circulating creatine kinase concentration, Elevated circulating acyl...	ORPHA:26791
Rhyns Syndrome	Renal insufficiency, Decreased response to growth hormone stimulation test, Chronic kidney diseas...	OMIM:602152
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Hypochromic microcytic anemia, Mild proteinuria, H...	OMIM:619147
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Precocious puberty, Hypercholesterolemia, Recurrent otitis media	ORPHA:254531
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-Hydroxyphenylp...	OMIM:617156
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Thrombocytopenia, Gi...	OMIM:611209
Glucose-Galactose Malabsorption	Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hematuria, Hypernatremia	ORPHA:35710
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:98895
Pgm3-Cdg	Abnormal CD4:CD8 ratio, Leukopenia, T lymphocytopenia, Neutropenia, Chronic otitis media, Decreas...	ORPHA:443811
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Urinary incontinence, Pineal cyst, Iron deficiency anemi...	OMIM:618885
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl...	ORPHA:29073
Chromosome 17Q12 Deletion Syndrome	Hypoplasia of the bladder, Recurrent urinary tract infections, Multicystic kidney dysplasia, Unil...	OMIM:614527
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Nephroblastoma, Cryptorchidism, Renal c...	OMIM:257300
Familial Mediterranean Fever	Pericarditis, Proteinuria, Skin rash, Orchitis, Splenomegaly, Osteoarthritis, Peritonitis, Nephro...	ORPHA:342
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Male infertility, Clitoral hypertrophy, Hypospadias, Elevated ...	ORPHA:90797
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Splenomegaly, Leukocytosis, Splenic infarction, Hematuria,...	OMIM:603903
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Verheij Syndrome	Renal agenesis, Renal hypoplasia, Renal cyst	OMIM:615583
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Psoriasiform dermatitis, Unilateral ren...	ORPHA:2237
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos...	ORPHA:223
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Primary Sclerosing Cholangitis	Renal insufficiency, Abnormal eosinophil morphology, Splenomegaly, Hepatitis, Uveitis, Hepatosple...	ORPHA:171
Immunodeficiency 26 With Or Without Neurologic Abnormalities	T lymphocytopenia, B lymphocytopenia, Recurrent aphthous stomatitis, Micropenis, Abnormal natural...	OMIM:615966
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Pancreatic fibrosis, Conjugated hyperbilirubinemia, Pancreatic ...	OMIM:208500
Kleefstra Syndrome Due To 9Q34 Microdeletion	Renal insufficiency, Hypoplasia of penis, Cryptorchidism, Vesicoureteral reflux, Abnormal testis ...	ORPHA:96147
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Myocarditis, Leukocytosis, Oliguria, Pancreatitis, Abnormal re...	ORPHA:188
Papa Syndrome	Increased inflammatory response, Myositis, Proteinuria, Acne, Pustule, Arthritis, Crohn's disease	ORPHA:69126
Xanthinuria, Type I	Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis	OMIM:278300
Systemic Sclerosis	Renal insufficiency, Pericarditis, Proteinuria, Elevated circulating creatine kinase concentratio...	ORPHA:90291
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Abnormal ovarian m...	ORPHA:95699
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla...	ORPHA:84081
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Highly elevated creatine kinase, Exercise-induced myoglobinuria	ORPHA:352479
Ogden Syndrome	Global glomerulosclerosis, Eczema, Cryptorchidism, Thrombocytopenia, Hydrocele testis, Iron defic...	OMIM:300855
Primary Intestinal Lymphangiectasia	Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia...	ORPHA:90362
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hypospadias, Conjugated hyperbilirubinemia, Cryptorchidism, Splenomegaly, Elevated circulating ph...	OMIM:614866
Glycogen Storage Disease Ixd	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:300559
Pallister-Hall Syndrome	Renal dysplasia, Thyroid dysgenesis, Decreased testicular size, Hydroureter, Decreased circulatin...	OMIM:146510
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Orchitis, Pustule, Hem...	ORPHA:761
Nephronophthisis 19	Splenomegaly, Stage 5 chronic kidney disease, Bile duct proliferation, Renal interstitial fibrosi...	OMIM:616217
Hepatoportal Sclerosis	Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A...	ORPHA:64743
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Tubulointerstitial...	ORPHA:79078
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Zellweger Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy	ORPHA:912
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Cryptorchidism, Aminoaciduria, Albuminuria, Elevated circulating long chain fatty ac...	OMIM:214100
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes	T lymphocytopenia	OMIM:242870
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Proteinuria, Abnormal circulating fatty-acid concentration, Renal Fanconi syndrome, Glycosuria, H...	ORPHA:263455
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia	OMIM:154020
Meningococcal Meningitis	Skin rash, Renal insufficiency, Infectious encephalitis, Elevated circulating C-reactive protein ...	ORPHA:33475
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat...	ORPHA:228305
Wagro Syndrome	Decreased testicular size, Nephroblastoma, Proteinuria, Hypoplastic female external genitalia	OMIM:612469
Boutonneuse Fever	Renal insufficiency, Skin rash, Maculopapular exanthema, Leukopenia, Thrombocytopenia	ORPHA:83313
Wild Type Attr Amyloidosis	Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria	ORPHA:330001
Congenital Disorder Of Glycosylation, Type Il	Polycystic kidney dysplasia, Hepatosplenomegaly	OMIM:608776
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Dahlberg-Borer-Newcomer Syndrome	Hypoparathyroidism, Nephropathy, Renal insufficiency, Hypocalcemia	ORPHA:1563
Familial Mediterranean Fever	Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, Orchitis, Sple...	OMIM:249100
Stevens-Johnson Syndrome	Dyspareunia, Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnormality of the urethra...	ORPHA:36426
Kaposiform Lymphangiomatosis	Metrorrhagia, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Abnor...	ORPHA:464329
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis	OMIM:615398
Bloom Syndrome	Male infertility, Decreased proportion of CD4-positive T cells, Recurrent urinary tract infection...	ORPHA:125
Sickle Cell Anemia	Pigment gallstones, Hemolytic anemia, Reticulocytosis, Osteomyelitis, Microcytic anemia, Abnormal...	ORPHA:232
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Co...	OMIM:242150
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Pneumonia, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, V...	OMIM:122470
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea...	ORPHA:3337
Carnitine-Acylcarnitine Translocase Deficiency	Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia...	ORPHA:159
Gillessen-Kaesbach-Nishimura Syndrome	Bicornuate uterus, Polycystic kidney dysplasia	OMIM:263210
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Polysyndactyly With Cardiac Malformation	Hepatic cysts, Renal cyst	OMIM:263630
Microscopic Polyangiitis	Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe...	ORPHA:727
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Premature ovarian insufficiency, Hypospadias, Hypergonadotropic hypogon...	ORPHA:2959
Genitopatellar Syndrome	Multicystic kidney dysplasia, Small scrotum, Cryptorchidism, Hydronephrosis, Clitoral hypertrophy	ORPHA:85201
Cholera	Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo...	ORPHA:173
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin A1c	OMIM:619127
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Hypogonadotropic hypogonadism, Dysuria, Skin rash, Xanthelasm...	ORPHA:35687
Glycogen Storage Disease Ixa1	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Cholesteryl Ester Storage Disease	Splenomegaly, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Mitochondrial Trifunctional Protein Deficiency 2	Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, Elevated circulating crea...	OMIM:620300
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Splenomegaly, Chronic kidney disease, Nephronophthisis	OMIM:615630
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Elevated circulating creatine kinase concentration, Microcytic anemia, Highly elevated...	OMIM:251900
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Proteinuria, Renal artery stenosis	OMIM:209010
Malignant Hyperthermia, Susceptibility To, 1	Myoglobinuria, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc...	OMIM:211900
Neuroleptic Malignant Syndrome	Hyponatremia, Proteinuria, Elevated circulating creatine kinase concentration, Urinary incontinen...	ORPHA:94093
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Enlarged polycystic ovaries, Abnormality of the ureter, Renal cell car...	ORPHA:2869
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Elevated circulating creatine kinase concentration, Hypomagnesemi...	OMIM:619743
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:119
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Mosaic Trisomy 9	Renal dysplasia, Hypoplasia of penis, Asplenia, Cryptorchidism, Horseshoe kidney, Multiple renal ...	ORPHA:99776
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit...	ORPHA:1772
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Vaginal neoplasm, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease,...	ORPHA:1018
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Spermatogenic Failure, X-Linked, 2	Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest	OMIM:309120
Tetraamelia-Multiple Malformations Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Vaginal atresia	ORPHA:3301
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Polycystic kidney dysplasia, Hypospadias, Renal hypoplasia, Renal cyst	OMIM:614091
Variant Abeta2M Amyloidosis	Abnormal salivary gland morphology, Chronic kidney disease, Renal amyloidosis	ORPHA:314652
Lujo Hemorrhagic Fever	Lymphopenia, Renal insufficiency, Maculopapular exanthema, Skin rash, Elevated circulating C-reac...	ORPHA:319213
Snakebite Envenomation	Hyponatremia, Hypopituitarism, Acute kidney injury, Thrombocytopenia	ORPHA:449285
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst...	OMIM:614227
Trisomy 20P	Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the ureter, Abnormal local...	ORPHA:261318
Ethylene Glycol Poisoning	Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy...	ORPHA:31826
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Giant hypertrophic gastritis, Hypochromic microcytic anemia	ORPHA:2494
Joubert Syndrome 2	Hypoplastic male external genitalia, Renal insufficiency, Renal cyst, Nephronophthisis	OMIM:608091
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Thrombocytopenia	OMIM:619980
Pyomyositis	Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Leukocytosis, Testicular te...	ORPHA:764
Zttk Syndrome	Absent gallbladder, Polyuria, Unilateral renal agenesis, Horseshoe kidney	OMIM:617140
Liddle Syndrome 1	Renal insufficiency, Hypokalemia, Decreased circulating renin level	OMIM:177200
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Decreased serum creatinine, Hypohomocysteinemia, Recurrent skin infections, Hypocystinemia	OMIM:617744
Scrub Typhus	Anterior uveitis, Renal insufficiency, Skin rash, Splenomegaly, Myocarditis, Infectious encephalitis	ORPHA:83317
Pheochromocytoma--Islet Cell Tumor Syndrome	Pheochromocytoma, Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level	OMIM:171420
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Myoglobinur...	OMIM:255125
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Decreased response to growth hormone stim...	ORPHA:1855
Fabry Disease	Renal insufficiency, Proteinuria, Urinary mulberry cells, Lipiduria, Anemia	OMIM:301500
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Oliguria, Lymphocytosis, Hypochromic anemia, Anemia	ORPHA:514
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Supernumerary nipple, Cryptorchidism, Renal hypoplasia, Renal cyst, Microphallus, ...	OMIM:618454
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:161200
Meckel Syndrome, Type 5	Bile duct proliferation, Renal cyst	OMIM:611561
Mpdu1-Cdg	Decreased response to growth hormone stimulation test, Eczema, Elevated circulating creatine kina...	ORPHA:79323
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Renal salt wasting, Hypersplenism, Va...	ORPHA:275761
Trisomy 17P	Hypoplasia of penis, Urethral valve, Urethral stenosis, Polycystic kidney dysplasia, Hydronephrosis	ORPHA:261290
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Renal agenesis, Cystic renal dysplasia	OMIM:220500
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Hypercalciuria, Rena...	ORPHA:369837
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Premature ovarian insufficiency, Autoimmune hemolytic anemia,...	OMIM:251260
Odontochondrodysplasia 1	Polycystic kidney dysplasia, Nephronophthisis	OMIM:184260
Meckel Syndrome, Type 6	Abnormal internal genitalia, Absent gallbladder, Renal cyst, Horseshoe kidney, Aplasia of the bla...	OMIM:612284
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Osteoarthritis, Acne, Hyperuricemia	ORPHA:77296
Porphyria Variegata	Hyponatremia, Neurogenic bladder, Abnormal circulating porphyrin concentration, Chronic kidney di...	ORPHA:79473
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Unconjugated hyperbili...	OMIM:300908
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr...	ORPHA:71212
Cog4-Cdg	Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Hydro...	ORPHA:2473
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Elevated circulating creatine kinase concentration, Premature thelarche, Elevated circ...	OMIM:616878
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Necrotizing enterocolitis, Dicarboxylic aciduria, Elevated circulating creatine kinase concentrat...	OMIM:201475
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis, Splenomega...	ORPHA:90051
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Supernumerary nipple, Hydronephrosis, Hypogonadism, Decreased testi...	ORPHA:261349
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Abnormal blood ion concentration, O...	ORPHA:31824
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Fryns Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Bicornuate uterus, Vesicoureteral refl...	ORPHA:2059
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Hepatitis, Hypochromic microcytic anemia, Steatorrhea, Anemia, Abnormal rena...	ORPHA:440713
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Hypocalcemia, Neutropenia, Hyp...	ORPHA:699
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia	OMIM:618829
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Cryptorchidism, Multicystic kidney dysplasia, Hydroureter, Megacystis	ORPHA:2241
Lymphedema-Hypoparathyroidism Syndrome	Hypoparathyroidism, Nephropathy, Renal insufficiency	OMIM:247410
Thyrocerebroretinal Syndrome	Nephritis, Thrombocytopenia, Goiter	OMIM:274240
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant	T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l...	OMIM:618806
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Myoglobinuria, Elevated circulating creatine ki...	OMIM:609015
Ddost-Cdg	Nephrotic range proteinuria	ORPHA:300536
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Incr...	ORPHA:79276
Lamellar Ichthyosis	Chronic otitis media, Renal insufficiency, Erythroderma	ORPHA:313
Castleman Disease	Renal insufficiency, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hem...	ORPHA:160
Meckel Syndrome, Type 2	Bile duct proliferation, Renal cyst	OMIM:603194
Yellow Fever	Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase concentration, Ac...	ORPHA:99829
Immunodeficiency 96	Multicystic kidney dysplasia, Eczema, Increased proportion of gamma-delta T cells, Increased mean...	OMIM:619774
Campomelia, Cumming Type	Pancreatic cysts, Polysplenia, Polycystic kidney dysplasia	OMIM:211890
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Multicystic kidney dysplasia, Recurrent urinary...	ORPHA:79404
Pheochromocytoma	Proteinuria, Hypercalcemia, Elevated urinary norepinephrine level, Pheochromocytoma, Renal artery...	OMIM:171300
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	OMIM:278000
Shigellosis	Hyponatremia, Acute colitis, Abscess, Pneumonia, Hemolytic-uremic syndrome, Myocarditis, Leukocyt...	ORPHA:810
Acquired Generalized Lipodystrophy	Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Polycystic ovaries, Panniculitis, Abnormal...	ORPHA:79086
Classic Galactosemia	Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Abnormal eryth...	ORPHA:79239
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Coccidioidomycosis	Abnormality of the spleen, Morbilliform rash, Abnormality of the male genitalia, Abnormality of t...	ORPHA:228123
Fanconi Anemia	Leukopenia, Abnormality of the uterus, Hypospadias, Cryptorchidism, Azoospermia, Decreased fertil...	ORPHA:84
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp...	OMIM:609049
Branchiootorenal Syndrome 1	Renal malrotation, Unilateral renal agenesis, Renal steatosis, Euthyroid goiter, Polycystic kidne...	OMIM:113650
Bartter Syndrome Type 4	Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili...	ORPHA:89938
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Increased circulating thyroglobulin level, Pancreatic cysts, Splenomegaly, Hepatitis, Renal cyst,...	OMIM:610199
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Brain abscess, Anuria, Acute colitis, Pneumonia, Myocarditis, Leu...	ORPHA:544482
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Discoid lupus rash, Cheilitis, Hematuria,...	ORPHA:536
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
Gaucher Disease Type 1	Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Osteoarthritis, Hematur...	ORPHA:77259
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Angular cheilitis, Megaloblastic a...	ORPHA:35858
Meckel Syndrome, Type 4	Bile duct proliferation, Renal cyst	OMIM:611134
Renal-Hepatic-Pancreatic Dysplasia 1	Renal insufficiency, Pancreatic fibrosis, Hepatic cysts, Pancreatic cysts, Asplenia, Splenomegaly...	OMIM:208540
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia,...	ORPHA:2973
Biliary, Renal, Neurologic, And Skeletal Syndrome	Dark urine, Renal insufficiency, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, In...	OMIM:619534
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Elliptocytosis, Microscopic hematuria	ORPHA:86818
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Ambiguous genitalia, Cryptorchidism, Renal hypoplasia, Renal cyst	OMIM:616300
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Megalo...	ORPHA:79282
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Reticulocytosis, Acanthocytosis, Decreased LDL cholester...	ORPHA:14
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Pagod Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Abnormality of the spleen, Agonadism, Abn...	ORPHA:991
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Rena...	ORPHA:411629
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H...	ORPHA:47159
Osteootohepatoenteric Syndrome	Proteinuria, Grade II vesicoureteral reflux, Hypokalemia, Increased serum bile acid concentration...	OMIM:619377
Severe Acute Respiratory Syndrome	Acute infectious pneumonia, Acute kidney injury	ORPHA:140896
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop...	OMIM:301106
Rhizomelic Limb Shortening With Dysmorphic Features	Stage 1 chronic kidney disease	OMIM:618821
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l...	OMIM:619381
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Increased mean corpu...	OMIM:194380
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypospadias, Unilateral renal agenesis, Cryptorchidism, Renal cyst, Posterior pituitary hypoplasi...	ORPHA:464311
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Renal cyst	OMIM:617100
Mosaic Trisomy 1	Renal cortical cysts, Micropenis, Penile hypospadias, Renal cyst	ORPHA:1692
Spinocerebellar Ataxia Type 32	Male infertility, Azoospermia, Testicular atrophy	ORPHA:276183
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Bicornuate uterus, Proteinuria	OMIM:222448
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Pancreatic cysts, Stage 5 chronic kidney...	OMIM:267010
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Renal agenesis, Ectopic kidney, Horseshoe kidney, Bicornuate uterus, Labial ...	ORPHA:140952
Spermatogenic Failure 75	Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ...	OMIM:619949
Lipodystrophy, Familial Partial, Type 7	Hypercholesterolemia, Hypertriglyceridemia, Recurrent pancreatitis, Polyuria	OMIM:606721
Primary Hyperoxaluria	Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic...	ORPHA:416
Peroxisome Biogenesis Disorder 1B	Hyperoxaluria, Renal cyst	OMIM:601539
Neuromuscular Oculoauditory Syndrome	Reduced renal corticomedullary differentiation, Multiple renal cysts, Elevated circulating creati...	OMIM:618733
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Uterine leiomyoma, Renal cyst	ORPHA:480536
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Joubert Syndrome 14	Renal cyst	OMIM:614424
Amoebiasis Due To Entamoeba Histolytica	Liver abscess, Lung abscess, Acute colitis, Leukocytosis, Hypoalbuminemia, Constrictive pericardi...	ORPHA:67
Mckusick-Kaufman Syndrome	Hydroureter, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, V...	OMIM:236700
Pmm2-Cdg	Pericarditis, Proteinuria, Hypogonadotropic hypogonadism, Elevated circulating growth hormone con...	ORPHA:79318
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra...	ORPHA:2614
Myotonic Dystrophy 2	Elevated circulating follicle stimulating hormone level, Hypogonadism, Elevated circulating creat...	OMIM:602668
Diaphanospondylodysostosis	Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney	OMIM:608022
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:259900
Dyrk1A-Related Intellectual Disability Syndrome	Hypospadias, Anterior pituitary hypoplasia, Unilateral renal agenesis, Eczema, Cryptorchidism, Br...	ORPHA:464306
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Renal hypoplasia, Renal cyst, Neutropenia, Vesicoureteral reflux, Lymphopen...	OMIM:618460
Ciliary Dyskinesia, Primary, 9	Male infertility, Pneumonia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis, Recurren...	OMIM:612444
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Cholangitis, Biliary hyper...	ORPHA:731
Meckel Syndrome, Type 3	Multicystic kidney dysplasia, Bile duct proliferation	OMIM:607361
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Skin rash, Hepatospleno...	OMIM:619924
Plasminogen Deficiency, Type I	Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis	OMIM:217090
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Refsum Disease	Splenomegaly, Renal insufficiency	ORPHA:773
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hyperlipidemia, Hematuria, Nephrotic syndrome, ...	ORPHA:324
Pseudo-Torch Syndrome 1	Splenomegaly, Renal insufficiency, Thrombocytopenia	OMIM:251290
Hereditary Fructose Intolerance	Renal insufficiency, Chronic kidney disease, Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility, Chronic otitis media, Bronchiectasis, Recurrent sinusitis	OMIM:300991
Porphyria Cutanea Tarda	Decreased circulating hepcidin concentration, Recurrent bacterial skin infections, Viral hepatiti...	ORPHA:101330
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Renal Tubular Dysgenesis	Renotubular dysgenesis, Abnormality of the urinary system, Anuria	OMIM:267430
Glycogen Storage Disease Xii	Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hemoglobinur...	OMIM:611881
Acute Generalized Exanthematous Pustulosis	Predominantly dermal neutrophilic infiltrate, Renal insufficiency, Neutrophilia, Eosinophilia, Pu...	ORPHA:293173
Isolated Thyroid-Stimulating Hormone Deficiency	Thyroid hypoplasia, Pituitary hypothyroidism, Macroorchidism, Hypercholesterolemia, Abnormal circ...	ORPHA:90674
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria	OMIM:607155
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia, Acne, Seborrheic dermatitis	OMIM:614441
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Recurrent skin infections, Decreased serum iron, Anemia, Decreased serum zinc, Hypoalbuminemia, D...	ORPHA:89842
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Renal insufficiency, Hypospadias, Supernumerary nipple, Renal cortical cysts, Hyperechogenic kidn...	ORPHA:397715
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	T lymphocytopenia, Decreased helper T cell proportion	OMIM:601705
Spermatogenic Failure 28	Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El...	OMIM:618086
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Abnormality of the parathyroid gland...	ORPHA:2552
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Renal steatosi...	ORPHA:412
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Decreased proportion of memory B cells...	ORPHA:79124
Hermansky-Pudlak Syndrome	Renal insufficiency, Menometrorrhagia, Neutropenia	ORPHA:79430
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Campomelia, Cumming Type	Pancreatic cysts, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Tetrasomy 9P	Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Myositis, Pericarditis, ...	ORPHA:3310
Cockayne Syndrome A	Renal insufficiency, Proteinuria, Cryptorchidism, Splenomegaly, Irregular menstruation, Hypogonad...	OMIM:216400
C Syndrome	Cryptorchidism, Clitoral hypertrophy, Renal cortical cysts	OMIM:211750
Penile Agenesis	Urethral atresia, male, Hydroureter, Cryptorchidism, Fetal pyelectasis, Bilateral renal hypoplasi...	ORPHA:49
Joubert Syndrome With Hepatic Defect	Splenomegaly, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1454
Toxic Epidermal Necrolysis	Renal insufficiency, Dysuria, Abnormality of the urethra, Thrombocytopenia, Conjunctivitis, Neutr...	ORPHA:537
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hyperalaninemia, Mitochondrial swelling, Stage 5 chronic kidney disease, Lacticaciduria	OMIM:618250
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Inflammatory abnormality of the skin, Eczema, Autoimmune thrombocyto...	ORPHA:391487
Cockayne Syndrome	Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilateral renal agen...	ORPHA:191
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	T lymphocytopenia, Hypocalcemia	DECIPHER:16
Joubert Syndrome 9	Stage 5 chronic kidney disease	OMIM:612285
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig...	ORPHA:91351
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Hematuria, Proteinuria	OMIM:192315
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Hepatic cysts, Cholangitis, Pancreatic cysts, Renal cyst, Abnormal s...	ORPHA:284
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Ectopic pancreatic tissue, Renal agenesis, Hypospadias, Cryp...	OMIM:229850
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Cryptorchidism, Hypoplastic labia minora, Absence of labia majora, Renal cyst, Kerat...	ORPHA:495875
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Myoglobinuria, Elevated circulating creatine kinase concentration	ORPHA:206549
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Hemoglobinuri...	ORPHA:244242
Caroli Disease	Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Polycystic...	ORPHA:53035
Immunodeficiency By Defective Expression Of Mhc Class Ii	Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Chronic hepatitis due to cryptos...	ORPHA:572
Ciliary Dyskinesia, Primary, 45	Male infertility, Bronchiectasis, Chronic rhinitis, Absent inner and outer dynein arms	OMIM:618801
Beckwith-Wiedemann Syndrome	Overgrowth of external genitalia, Cryptorchidism, Pancreatic hyperplasia, Nephrolithiasis, Renal ...	OMIM:130650
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Renal cyst, Horseshoe kidney	OMIM:250410
Secondary Intestinal Lymphangiectasia	Decreased prealbumin level, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypoc...	ORPHA:90363
Calciphylaxis	Hyperphosphatemia, Stage 5 chronic kidney disease, Secondary hyperparathyroidism	ORPHA:280062
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, T lymphocyto...	OMIM:615513
Rajab Interstitial Lung Disease With Brain Calcifications 1	Recurrent urinary tract infections, Small scrotum, Pancytopenia, Hypoalbuminemia, Hypocalcemia, U...	OMIM:613658
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, H...	OMIM:615508
D-Bifunctional Protein Deficiency	Splenomegaly, Renal cyst, Bile duct proliferation, Increased circulating very long-chain fatty ac...	OMIM:261515
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Conjunctivitis, Renal cyst	OMIM:615560
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Spermatogenic Failure 6	Male infertility, Decreased acrosin in sperm head, Globozoospermia	OMIM:102530
Relapsing Polychondritis	Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna...	ORPHA:728
Tuberous Sclerosis 1	Precocious puberty, Renal cyst, Renal cell carcinoma, Adenoma sebaceum, Renal angiomyolipoma	OMIM:191100
Obesity Due To Congenital Leptin Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Primary amenorrhe...	ORPHA:66628
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency	ORPHA:2318
Renal-Hepatic-Pancreatic Dysplasia 2	Asplenia, Hepatic cysts, Cystic renal dysplasia, Enlarged kidney	OMIM:615415
Ciliary Dyskinesia, Primary, 14	Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ...	OMIM:613807
Spondyloenchondrodysplasia With Immune Dysregulation	Pneumonia, Autoimmune thrombocytopenia, T lymphocytopenia, Recurrent otitis media, Rheumatoid art...	OMIM:607944
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Hypospadias, Cryptorchidism, Renal cyst, Vesicoureteral reflux, Annular pancreas	OMIM:616975
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, Myoglobinuria, Acute ki...	ORPHA:423
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Recurrent skin infections, Glomerulonephritis, Chronic k...	ORPHA:79408
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency	ORPHA:220497
Lysinuric Protein Intolerance	Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, Stag...	OMIM:222700
Meckel Syndrome, Type 1	Accessory spleen, Hypoplasia of the bladder, Renal agenesis, External genital hypoplasia, Aspleni...	OMIM:249000
Mercury Poisoning	Interstitial pneumonitis, Hypokalemia, Acute kidney injury	ORPHA:330021
Obesity Due To Leptin Receptor Gene Deficiency	Hypertriglyceridemia, Hypergonadotropic hypogonadism, Pituitary hypothyroidism, Primary amenorrhe...	ORPHA:179494
Hajdu-Cheney Syndrome	Cryptorchidism, Hypospadias, Polycystic kidney dysplasia, Renal cyst	OMIM:102500
Neurooculorenal Syndrome	Hypoplasia of the bladder, Ectopic posterior pituitary, Decreased circulating cortisol level, Uni...	OMIM:620305
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Multicystic kidney dysplasia, Elevated circulating creatine kinase con...	OMIM:615287
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Eczema, Nephroblastoma, Supernumerary nipple	ORPHA:1001
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Horseshoe kidney, Vesicoureteral...	ORPHA:391641
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hydronephrosis	ORPHA:1297
Immunodeficiency 76	Splenomegaly, Recurrent pneumonia, T lymphocytopenia, Colitis, B lymphocytopenia, Lymphopenia	OMIM:619164
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormality of the kidney	ORPHA:1764
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Precocious puberty, Cryptorchidism, Dilatation of the renal pelvis, ...	ORPHA:2044
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an...	ORPHA:90035
Behçet Disease	Glomerulopathy, Renal insufficiency, Myositis, Acne, Increased inflammatory response, Pericarditi...	ORPHA:117
Joubert Syndrome 1	Nephropathy, Renal cyst	OMIM:213300
Caroli Syndrome	Liver abscess, Abnormality of the kidney, Cholangitis, Conjugated hyperbilirubinemia, Hyperspleni...	ORPHA:480520
Enamel-Renal Syndrome	Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En...	ORPHA:1031
Ciliary Dyskinesia, Primary, 34	Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Bronch...	OMIM:617091
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Parath...	ORPHA:805
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Precocious puberty, Renal cyst, Renal cell car...	OMIM:613254
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Myoglobinuria, Dicarboxylic aciduria	OMIM:231530
Immunodeficiency 19	Recurrent otitis media, T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer ce...	OMIM:615617
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Renal dysplasia, Renal cyst	OMIM:617260
Beckwith-Wiedemann Syndrome	Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Cryptorchidism, Splen...	ORPHA:116
Complete Androgen Insensitivity Syndrome	Male infertility, Acne, Abnormal uterine cervix morphology, Elevated circulating luteinizing horm...	ORPHA:99429
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of th...	OMIM:102700
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Inflammatory abnormality of the skin, Sinusitis, Recurrent pneumonia, T lymphocytopenia, B lympho...	ORPHA:277
Agel Amyloidosis	Keratoconjunctivitis sicca, Abnormal spleen morphology, Proteinuria, Stage 5 chronic kidney disease	ORPHA:85448
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Holoprosencephaly	Hyponatremia, Hypoplasia of penis, Proteinuria, Cryptorchidism, Abnormality of the spleen, Abnorm...	ORPHA:2162
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Pneumonia, Recurrent pneum...	OMIM:300400
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Abnormality of the kidney, Eosinophilia, Cholangitis, Prostatitis, Enlarged ...	ORPHA:449432
Meckel Syndrome	Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancr...	ORPHA:564
Ataxia-Telangiectasia	Sinusitis, Female hypogonadism, Elevated circulating alpha-fetoprotein concentration, Bronchiecta...	OMIM:208900
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Proteinuria, Elevated circulating creatine kinase concentration, Acut...	ORPHA:99827
Acute Interstitial Pneumonia	Bronchiectasis, Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circu...	ORPHA:79126
Joubert Syndrome 6	Bile duct proliferation, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Congenital Disorder Of Glycosylation, Type If	Renal cortical cysts, Erythroderma	OMIM:609180
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell c...	OMIM:193300
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot...	OMIM:601457
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Cholestasis, Progressive Familial Intrahepatic, 8	Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia, Sclerosing c...	OMIM:619662
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Hepatitis, Gastrointestinal inflammation, Hypoalbuminemia, Abnorma...	ORPHA:186
Immunodeficiency 13	Lymphopenia, Recurrent pneumonia, Bronchiectasis, T lymphocytopenia, B lymphocytopenia, Recurrent...	OMIM:615518
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Male infertility, Bronchiectasis, Coiled sperm flagella, Recurrent sinusitis, Short sperm flagella	OMIM:620197
Distal Deletion 12Q	Late onset atopic dermatitis, Unilateral cryptorchidism, Ectopic kidney, Pituitary adenoma, Annul...	ORPHA:96149
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Cholangitis, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, ...	OMIM:266920
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Hyperechogenic kidneys, Polycystic kidney dysplasia	OMIM:617866
Ciliary Dyskinesia, Primary, 18	Male infertility, Absent inner dynein arms, Absent outer dynein arms, Rhinitis, Recurrent sinusit...	OMIM:614874
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney	OMIM:613091
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Distal Deletion 10Q	Functional abnormality of the bladder, Horseshoe kidney, Enuresis, Vesicoureteral reflux, Acute k...	ORPHA:96148
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Hepatic cysts	OMIM:613819
Digeorge Syndrome	Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Acne, Unilateral renal agenesis, Sebo...	OMIM:188400
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Phelan-Mcdermid Syndrome	Vesicoureteral reflux, Abnormality of the kidney, Polycystic kidney dysplasia	OMIM:606232
Autosomal Recessive Hypophosphatemic Rickets	Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Enthesitis, Renal phos...	ORPHA:289176
Atelosteogenesis Type I	Abnormal pancreatic duct morphology, Multiple renal cysts	ORPHA:1190
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Splenomegaly, Cryptorchidism, Micropenis	OMIM:133540
Acquired Aneurysmal Subarachnoid Hemorrhage	Leukocytosis, Hypercholesterolemia, Hypopituitarism	ORPHA:90065
Syndromic Diarrhea	Gastritis, Increased mean platelet volume, Splenomegaly, Renal hypoplasia, Colitis, Hypoplasia of...	ORPHA:84064
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia	ORPHA:261197
Au-Kline Syndrome	Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dilatation of the renal pelvis, Ves...	OMIM:616580
Giant Cell Arteritis	Hematuria, Arthritis, Renal insufficiency, Pericarditis	ORPHA:397
Meckel Syndrome 14	Ambiguous genitalia, Aplasia of the uterus, Polycystic kidney dysplasia	OMIM:619879
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Decreased proportion of CD8-positive T cells, Recurrent pneumonia, Hypereosinophilia, Horseshoe k...	ORPHA:508533
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Pneumonia, Atopic dermatitis, T lymphocytopenia, B lymphocyt...	ORPHA:217390
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal hypoplasia/aplasia, Abnormality of the spleen...	ORPHA:2538
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, ...	ORPHA:857
Waldenström Macroglobulinemia	Normocytic anemia, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, Leukemia	ORPHA:33226
Roberts Syndrome	Clitoral hypertrophy, Cryptorchidism, Long penis, Polycystic kidney dysplasia, Thrombocytopenia	ORPHA:3103
Vici Syndrome	Lymphopenia, Elevated circulating creatine kinase concentration, Chronic mucocutaneous candidiasi...	OMIM:242840
Agammaglobulinemia, X-Linked	Recurrent urinary tract infections, Enteroviral hepatitis, Epididymitis, Recurrent pneumonia, Bro...	OMIM:300755
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Erythrod...	ORPHA:169154
Aymé-Gripp Syndrome	Cryptorchidism, Pericarditis, Proteinuria, Breast hypoplasia	ORPHA:1272
Juvenile Polyposis Of Infancy	Anemia, Refractory anemia, Hypoalbuminemia, Freckled genitalia	ORPHA:79076
Radio-Renal Syndrome	Multicystic kidney dysplasia, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia	ORPHA:3015
Alström Syndrome	Urinary incontinence, Decreased response to growth hormone stimulation test, Functional abnormali...	ORPHA:64
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Renal hypoplasia, Hypoplasia of the ovary, Azotemia, Micropenis, Decreased testicul...	OMIM:619321
Epidermal Nevus Syndrome	Polycystic kidney dysplasia	ORPHA:35125
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Transient neutropenia, Renal cyst, Nephroblastoma, Bifid ureter, Renal dysplasia	OMIM:617107
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit...	ORPHA:904
Hermansky-Pudlak Syndrome 1	Renal insufficiency, Colitis, Inflammation of the large intestine	OMIM:203300
Hardikar Syndrome	Hypoplasia of the bladder, Renal insufficiency, Recurrent urinary tract infections, Hydroureter, ...	OMIM:301068
Mandibuloacral Dysplasia	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level	ORPHA:2457
Spermatogenic Failure, X-Linked, 4	Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos...	OMIM:301077
Orofaciodigital Syndrome Type 1	Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Pancreatic cysts, Chronic otitis ...	ORPHA:2750
Aromatase Deficiency	Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit...	ORPHA:91
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:615399
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Small scrotum, External genital hypoplasia, Cryptorchidism, Hypogonadism, Moderate albuminuria	OMIM:614231
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Myocarditis, Increa...	ORPHA:466677
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Hypoalbuminemia, Anemia	ORPHA:79396
Spermatogenic Failure 14	Male infertility, Azoospermia, Elevated circulating follicle stimulating hormone level, Abnormal ...	OMIM:615842
Cranioectodermal Dysplasia 2	Renal insufficiency, Cholangitis, Splenomegaly, Recurrent pneumonia, Renal cyst, Bile duct prolif...	OMIM:613610
Robinow Syndrome	Multicystic kidney dysplasia, Small scrotum, External genital hypoplasia, Cryptorchidism, Hypopla...	ORPHA:97360
Schinzel-Giedion Syndrome	Streak ovary, Hypospadias, Myeloid leukemia, Recurrent pneumonia, Abnormality of the ureter, Neph...	ORPHA:798
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Cryptor...	ORPHA:818
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:612300
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Ovarian cyst, Polycystic kidney dysplasia, Hepatic cysts	OMIM:311200
Cranioectodermal Dysplasia 4	Recurrent pneumonia, Stage 5 chronic kidney disease	OMIM:614378
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Cryptorchidism, Abnormality of the s...	ORPHA:1606
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, Impaired neutrophil chemotaxis, Lymphadenitis, Recurrent pneumonia, Neutropenia, Br...	OMIM:618986
Attenuated Familial Adenomatous Polyposis	Uterine leiomyoma, Multiple renal cysts	ORPHA:220460
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Degcags Syndrome	Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Hypospadias, Congenital hypoplast...	OMIM:619488
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma, Ab...	ORPHA:538
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity	OMIM:619351
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu...	OMIM:619313
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hydronephrosis, Chronic otitis...	ORPHA:1507
Acrocephalopolydactylous Dysplasia	Polysplenia, Pancreatic fibrosis, Cystic renal dysplasia, Enlarged kidney	OMIM:200995
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Renal insufficiency	OMIM:226980
Distal Deletion 15Q	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Abnormal localization of kidney, Micro...	ORPHA:1596
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility, Recurrent otitis media, Asplenia	OMIM:618948
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Hypospadias, Acne, Seborrheic dermatitis, Cryptorchidism, Splenomegaly, Renal...	ORPHA:567
Listeriosis	Liver abscess, Abnormal cellular immune system morphology, Granulomatosis, Conjunctivitis, Cholec...	ORPHA:533
Acrorenal-Mandibular Syndrome	Absent nipple, Renal agenesis, Abnormality of the ureter, Uterus didelphys, Aplasia of the bladde...	OMIM:200980
Jacobsen Syndrome	Multicystic kidney dysplasia, Eczema, Cryptorchidism, Annular pancreas, Hydronephrosis, Thrombocy...	ORPHA:2308
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Zygomycosis	Brain abscess, Renal insufficiency, Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myoca...	ORPHA:73263
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Moderate albuminuria, Periodontitis, Hydronephrosis	OMIM:619269
Simpson-Golabi-Behmel Syndrome	Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Hydroureter...	ORPHA:373
African Trypanosomiasis	Renal insufficiency, Pericarditis, Urinary incontinence, Abnormality of the menstrual cycle, Kera...	ORPHA:3385
Immunodeficiency 85 And Autoimmunity	Eczema, Oligoarthritis, T lymphocytopenia, Erythroderma, Decreased proportion of CD4-positive hel...	OMIM:619510
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Decreased proportion of naive T cells, Aplasia of the thymus,...	ORPHA:83471
Short-Rib Thoracic Dysplasia 12	Splenomegaly, Renal hypoplasia, Hypoplastic nipples, Ambiguous genitalia, Cystic renal dysplasia	OMIM:269860
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Cryptorchidism, Proteinuria	OMIM:616682
Low Phospholipid-Associated Cholelithiasis	Liver abscess, Cholangitis, Sclerosing cholangitis, Cholecystitis, Hypercholesterolemia, Cholelit...	ORPHA:69663
Townes-Brocks Syndrome 1	Bifid scrotum, Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Re...	OMIM:107480
Immunodeficiency 57 With Autoinflammation	Skin rash, Gastritis, Perianal abscess, Bronchiectasis, T lymphocytopenia, Inflammation of the la...	OMIM:618108
Mandibuloacral Dysplasia With Type B Lipodystrophy	Hyperlipidemia, Stage 5 chronic kidney disease	OMIM:608612
Cornelia De Lange Syndrome	Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Cryptorchidi...	ORPHA:199
Gaucher Disease Type 3	Pancytopenia, Proteinuria, Splenomegaly, Hematuria, Anemia, Thrombocytopenia	ORPHA:77261
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Combined Cellular And Humoral Immune Defects With Granulomas	T lymphocytopenia, B lymphocytopenia	OMIM:233650
Steinert Myotonic Dystrophy	Endometrial carcinoma, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu...	ORPHA:273
Joubert Syndrome 21	Splenomegaly, Hyperechogenic kidneys, Chronic sinusitis, Renal cyst	OMIM:615636
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
Sotos Syndrome	Ureteral duplication, Renal insufficiency, Hypospadias, Hypercalcemia, Abnormality of the kidney,...	ORPHA:821
C Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Horseshoe kidney, Female ...	ORPHA:1308
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Renal hypoplasia, Renal cyst, Uterus...	ORPHA:93271
Cockayne Syndrome Type 3	Neurogenic bladder, Renal insufficiency, Hydroureter, Unilateral renal agenesis, Splenomegaly, Re...	ORPHA:90324
Gaucher Disease	Pancytopenia, Osteomyelitis, Proteinuria, Elevated circulating C-reactive protein concentration, ...	ORPHA:355
Ciliary Dyskinesia, Primary, 19	Male infertility, Bronchiectasis, Absent inner and outer dynein arms, Rhinitis, Recurrent sinusit...	OMIM:614935
Lipodystrophy, Familial Partial, Type 2	Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, Labial pseudoh...	OMIM:151660
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cryptorchidism, Renal hypoplasia, Renal cyst, Polycystic kidney dysplasia, Hyperbilirubinemia, Mi...	OMIM:210710
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys...	DECIPHER:81
Mosaic Variegated Aneuploidy Syndrome	Multicystic kidney dysplasia, Vaginal neoplasm, Acute lymphoblastic leukemia, Ambiguous genitalia...	ORPHA:1052
Femoral-Facial Syndrome	Renal agenesis, Abnormal renal collecting system morphology, Cryptorchidism, Hypoplastic labia ma...	OMIM:134780
Joubert Syndrome 39	Polycystic kidney dysplasia	OMIM:619562
Fraser Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Small scrotum, Cryptorchidism, Re...	ORPHA:2052
Histiocytoid Cardiomyopathy	Renal cyst, Polycystic ovaries	ORPHA:137675
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Hydronephrosis, Horseshoe kidney, Renal hypoplasia/aplasia	ORPHA:2092
Kawasaki Disease	Pericarditis, Proteinuria, Skin rash, Myocarditis, Leukocytosis, Hepatitis, Sterile pyuria, Cheil...	ORPHA:2331
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease	ORPHA:25
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hypertriglyceridemia, Hepatitis, Increased LDL cholesterol concentration, Cholesterol gallstones,...	ORPHA:209902
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ambiguous genitalia, Micropenis, Pancreatic fibrosis, Polycystic kidney dysplasia	OMIM:263520
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy...	ORPHA:466650
Apolipoprotein C-Ii Deficiency	Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration, Decreased ci...	OMIM:207750
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hemolytic anemia	OMIM:266120
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Anterior uveitis, Vaginal dryness, Inflammatory abnormality of the ski...	ORPHA:95455
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, Breast aplasia	OMIM:181270
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Micropenis, Polycystic kidney dysplasia	OMIM:616546
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis, Ne...	ORPHA:449427
Cutis Marmorata Telangiectatica Congenita	Displacement of the urethral meatus, Multicystic kidney dysplasia	ORPHA:1556
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le...	OMIM:300972
Arteriosclerosis, Severe Juvenile	Chronic kidney disease, Anemia	OMIM:208060
Serotonin Syndrome	Acute kidney injury	ORPHA:43116
Hypercholesterolemia, Familial, 3	Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma	OMIM:603776
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C...	OMIM:606367
Primary Ciliary Dyskinesia	Male infertility, Female infertility, Asplenia, Bronchiectasis, Chronic sinusitis, Recurrent otit...	ORPHA:244
Immunodeficiency 49	Impaired lymphocyte transformation with phytohemagglutinin, Psoriasiform dermatitis, Eosinophilia...	OMIM:617237
Trisomy 10P	Absent gallbladder, Multiple renal cysts, Abnormality of the kidney, Rectovaginal fistula	ORPHA:171929
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Clitoral hypoplasia, Breast hypoplasia, Oligozoospermia	OMIM:614813
Lmna-Related Cardiocutaneous Progeria Syndrome	Papillary renal cell carcinoma, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:363618
Carney Complex	Leydig cell neoplasia, Abnormal sperm motility, Ovarian serous cystadenoma, Precocious puberty, O...	ORPHA:1359
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma	OMIM:144010
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Neph...	ORPHA:500095
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Pancrea...	ORPHA:99885
Hyperlipoproteinemia, Type I	Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi...	OMIM:238600
Ulbright-Hodes Syndrome	Abnormal penis morphology, Abnormal external genitalia, Enlarged labia minora, Cryptorchidism, Re...	ORPHA:3404
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Vesicoureteral reflux, Renal cortical cysts	OMIM:618548
Cystic Fibrosis	Male infertility, Recurrent pneumonia, Bronchiectasis, Hypercalciuria, Hepatosplenomegaly, Steato...	OMIM:219700
Spondylocarpotarsal Synostosis Syndrome	Renal cyst	OMIM:272460
Cranioectodermal Dysplasia 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:614099
Williams-Beuren Syndrome	Recurrent urinary tract infections, Renal insufficiency, Hypercalcemia, Abnormal renal morphology...	OMIM:194050
Genitopatellar Syndrome	Multicystic kidney dysplasia, Small scrotum, Enlarged labia minora, Cryptorchidism, Labial hypopl...	OMIM:606170
Cerebrocostomandibular Syndrome	Horseshoe kidney, Renal cyst, Ectopic kidney	OMIM:117650
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Hypercholesterolemia, Hyperlipidemia	OMIM:248370
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Aneurysm Of Sinus Of Valsalva	Oliguria, Bacterial endocarditis	ORPHA:1054
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease	ORPHA:2752
Homozygous Familial Hypercholesterolemia	Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ...	ORPHA:391665
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Long penis, R...	ORPHA:744
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Immunodeficiency 68	Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a...	OMIM:612260
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Renal agenesis, Hypospadias, Unilateral renal agenesis, Eczema, Ker...	OMIM:308205
Congenital Disorder Of Glycosylation, Type Iiw	Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anemia, Thrombocytope...	OMIM:619525
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Pneumonia, Bronchiectasis, T lymphocytopenia, Reduced natural killer cell count	OMIM:242860
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Renal hypoplasia/aplasia, Crypto...	ORPHA:709
Hajdu-Cheney Syndrome	Splenomegaly, Multiple renal cysts, Hypospadias, Periodontitis	ORPHA:955
Immunodeficiency 25	Autoimmune hemolytic anemia, Eosinophilia, Recurrent pneumonia, T lymphocytopenia, Erythroderma	OMIM:610163
Ciliary Dyskinesia, Primary, 1	Male infertility, Pneumonia, Asplenia, Absent outer dynein arms, Bronchiectasis, Chronic rhinitis...	OMIM:244400
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia	ORPHA:1393
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Male infertility, Azoospermia, Absent vas deferens	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Male infertility, Azoospermia, Absent vas deferens	OMIM:277180
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T lymphocytopenia...	OMIM:242700
Eisenmenger Syndrome	Brain abscess, Renal insufficiency, Elevated circulating C-reactive protein concentration, Hypoch...	ORPHA:97214
Immunodeficiency 40	Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia, Interstitial pneumonitis, Chronic...	OMIM:616433
Leptospirosis	Pericarditis, Skin rash, Cellular urinary casts, Hepatitis, Uveitis, Hyperproteinemia, Optic neur...	ORPHA:509
Simpson-Golabi-Behmel Syndrome, Type 1	Hypospadias, Supernumerary nipple, Cryptorchidism, Splenomegaly, Renal cyst, Duplication of renal...	OMIM:312870
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ...	ORPHA:231154
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia	OMIM:300373
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Branchiooculofacial Syndrome	Renal agenesis, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst	OMIM:113620
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility, Chronic sinusitis, Recurrent otitis media	OMIM:619607
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Mowat-Wilson Syndrome	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Abnormality of th...	ORPHA:2152
Noonan Syndrome 1	Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias...	OMIM:163950
Acute Liver Failure	Skin rash, Hepatitis, Hyperammonemia, Acute kidney injury, Thrombocytopenia	ORPHA:90062
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Skin ras...	ORPHA:35078
Roberts-Sc Phocomelia Syndrome	Accessory spleen, Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Horseshoe kidne...	OMIM:268300
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Keratitis, Splenomegaly, Retrobulbar op...	ORPHA:90340
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, A...	ORPHA:261537
Tropical Endomyocardial Fibrosis	Splenomegaly, Hypoalbuminemia, Eosinophilia	ORPHA:75565
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid scrotum, Multicystic kidney dysplasia, Hypospadias, Urinary incontinence, Septate vagina, A...	ORPHA:261552
Immunodeficiency 17	Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, T lymphocytope...	OMIM:615607
Costello Syndrome	Renal insufficiency	OMIM:218040
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Abscess, Chronic kidney disease, Aplasia of the sweat glands, Septic ar...	ORPHA:642
Epidermodysplasia Verruciformis, Susceptibility To, 5	T lymphocytopenia, Lymphopenia	OMIM:618309
Pallister-Killian Syndrome	Small scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Renal cyst, Hypoplastic labia m...	OMIM:601803
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Pneumoni...	OMIM:600802
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Vesicoureteral reflux, Ureteropelvi...	OMIM:164210

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 Arhgdia

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 Arhgdia.

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

Order Mouse and ES Cells

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

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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