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Gene: Mocs2 MGI:1336894

Gene Summary

Name:

molybdenum cofactor synthesis 2

Synonyms:

N/A

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased body length	Mocs2^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.43×10^-05
increased fasting circulating glucose level	Mocs2^{tm1b(EUCOMM)Wtsi}	HET	Early adult	2.14×10^-05
persistence of hyaloid vascular system	Mocs2^{tm1b(EUCOMM)Wtsi}	HET	Early adult	6.22×10^-05
preweaning lethality, complete penetrance	Mocs2^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.24×10^-05
decreased circulating sodium level	Mocs2^{tm1b(EUCOMM)Wtsi}	HET	Early adult	8.90×10^-06

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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Human diseases caused by Mocs2 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 Mocs2 (1 diseases)
Human diseases predicted to be associated with Mocs2 (1223 diseases)

The table below shows human diseases associated to Mocs2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Molybdenum Cofactor Deficiency, Complementation Group B		Increased urinary taurine, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Increased ur...	OMIM:252160

The table below shows human diseases predicted to be associated to Mocs2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hereditary Xanthinuria	Uric acid nephrolithiasis, Crystalluria, Sulfite oxidase deficiency, Recurrent urinary tract infe...	ORPHA:3467
Xanthinuria, Type Ii	Hyperxanthinemia, Increased urinary hypoxanthine, Hypouricemia, Xanthinuria, Renal insufficiency,...	OMIM:603592
Adenine Phosphoribosyltransferase Deficiency	Uric acid nephrolithiasis, Renal insufficiency, Urinary retention, Recurrent urinary tract infect...	ORPHA:976
Hereditary Renal Hypouricemia	Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype...	ORPHA:94088
Hypouricemia, Renal, 1	Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R...	OMIM:220150
Combined Oxidative Phosphorylation Deficiency 36	Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Lower limb muscle w...	OMIM:617950
Cystinuria	Hyperlysinuria, Recurrent urinary tract infections, Ornithinuria, Cystinuria, Argininuria, Renal ...	OMIM:220100
Molybdenum Cofactor Deficiency, Complementation Group C	Sulfite oxidase deficiency, Increased urinary taurine, Hypertaurinemia, Polymicrogyria, Molybdenu...	OMIM:615501
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Elevated hepatic t...	OMIM:616026
Molybdenum Cofactor Deficiency, Complementation Group A	Sulfite oxidase deficiency, Increased urinary taurine, Increased urinary thiosulfate, Reduced xan...	OMIM:252150
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Stage 5 chronic kidney disease, Nephritis, Elevated circulating creatinine c...	OMIM:161900
Juvenile Nephropathic Cystinosis	Abnormal urine potassium concentration, Aminoaciduria, Hypocalcemic tetany, Low-molecular-weight ...	ORPHA:411634
Fanconi-Bickel Syndrome	Glycosuria, Reduced subcutaneous adipose tissue, Hyperphosphaturia, Hypophosphatemia, Hypokalemia...	OMIM:227810
Hyperprolinemia Type 1	Prolinuria, Nephropathy, Hyperprolinemia, Proteinuria	ORPHA:419
Saccharopinuria	Hyperlysinuria, Short stature, Histidinuria, Elevated circulating sacchoropine concentration, Sac...	OMIM:268700
2P21 Microdeletion Syndrome	Long eyelashes, Cystinuria, Failure to thrive, Growth delay, Hypocalcemia, Nephrolithiasis	ORPHA:163693
Congenital Primary Megaureter	Vesicoureteral reflux, Hydronephrosis, Congenital megaureter, Recurrent urinary tract infections,...	ORPHA:617
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Stage 5 chronic kidney disease, Nephropa...	OMIM:137950
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Stage 5 chronic kidney disease, Nephrotic syndrome, Pro...	OMIM:601894
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Short stature, Proteinuria, Microscopic hematuria	ORPHA:2613
5-Oxoprolinase Deficiency	Prolinuria, Calcium oxalate nephrolithiasis, Reduced 5-oxoprolinase level, Increased level of L-p...	OMIM:260005
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal tubular atrophy, Aminoaciduria, Proximal tubulopathy, Hyposthenuria, Short stature, Beta 2-...	OMIM:308990
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney disease, Mic...	ORPHA:54370
Primary Fanconi Renotubular Syndrome	Decreased plasma carnitine, Bicarbonate-wasting renal tubular acidosis, Hypophosphatemic rickets,...	ORPHA:3337
Threoninemia	Hyperthreoninemia, Hyperthreoninuria, Growth delay	OMIM:273770
Glycogen Storage Disease Xii	Reduced haptoglobin level, Elevated circulating alanine aminotransferase concentration, Short sta...	OMIM:611881
Atypical Hemolytic Uremic Syndrome	Acute kidney injury, Abnormal lactate dehydrogenase level, Proteinuria, Hematuria	ORPHA:2134
Galactosemia Iii	Aminoaciduria, Hypergalactosemia, Decreased beta-galactosidase activity, Jaundice, Galactosuria, ...	OMIM:230350
Dent Disease 2	Aminoaciduria, Proximal tubulopathy, Elevated circulating alanine aminotransferase concentration,...	OMIM:300555
Nephrotic Syndrome, Type 17	Short stature, Stage 5 chronic kidney disease, Proteinuria, Steroid-resistant nephrotic syndrome,...	OMIM:618176
Posterior Urethral Valve	Vesicoureteral reflux, Hydronephrosis, Urinary incontinence, Enuresis nocturna, Urinary retention...	ORPHA:93110
Lipoprotein Glomerulopathy	Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria	OMIM:611771
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome	Abnormal fingernail morphology, Aminoaciduria, Failure to thrive, Severe short stature	ORPHA:2278
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal tubular atrophy, Proximal tubulopathy, Renal insufficiency, Microscopic hematuria, Glomerul...	OMIM:310468
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Abnormal eyebrow morphology, Short stature, Hypoplasia of penis, Delayed puberty, Hypospadias, Ge...	ORPHA:1816
Focal Segmental Glomerulosclerosis 6	Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria...	OMIM:614131
Lipodystrophy, Partial, Acquired, Susceptibility To	Abnormal circulating lipid concentration, Nephrotic syndrome, Hematuria, Membranoproliferative gl...	OMIM:608709
Thrombotic Thrombocytopenic Purpura	Generalized muscle weakness, Acute kidney injury, Hematuria, Decreased serum creatinine, Proteinu...	ORPHA:54057
Molybdenum Cofactor Deficiency, Complementation Group B	Increased urinary taurine, Increased urinary hypoxanthine, Xanthine nephrolithiasis, Increased ur...	OMIM:252160
Interstitial Nephritis, Karyomegalic	Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ...	OMIM:614817
Cystathioninuria	Nephrolithiasis, Cystathioninemia, Cystathioninuria	ORPHA:212
Hypotonia-Cystinuria Syndrome	Failure to thrive, Nephrolithiasis, Growth delay, Cystinuria	ORPHA:163690
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Increased phosphoribosylpyrophosphate synthetase level, Uric acid nephrolithiasis, Crystalluria, ...	ORPHA:411536
Adenine Phosphoribosyltransferase Deficiency	Urolithiasis, 2,8-dihydroxyadenine crystalluria, Hematuria, Oliguria, Elevated circulating creati...	OMIM:614723
Iga Nephropathy, Susceptibility To, 2	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Nephritis, Proteinuria	OMIM:613944
Hypotonia-Cystinuria Syndrome	Cystine crystalluria, Long eyelashes, Cystinuria, Failure to thrive, Muscle weakness, Hypocalcemi...	OMIM:606407
Ichthyosis, Split Hairs, And Amino Aciduria	Aminoaciduria, Abnormal hair morphology	OMIM:242550
Preeclampsia	Increased body mass index, Acute kidney injury, Abnormality of the kidney, Small for gestational ...	ORPHA:275555
Valinemia	Hypervalinemia, Valinuria, Muscle weakness, Failure to thrive	OMIM:277100
Lysine Malabsorption Syndrome	Renal tubular lysine transport defect, Hyperlysinuria, Growth delay	OMIM:247950
Iga Nephropathy, Susceptibility To, 1	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Purpura, Nephritis, ...	OMIM:161950
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Iga Nephropathy, Susceptibility To, 3	IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Hematuria, Mesangial hypercellu...	OMIM:616818
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Stage 5 chronic kidney disease, Proteinuria, Nephrotic syndrome	OMIM:614199
Preeclampsia/Eclampsia 1	Proteinuria, Elevated hepatic transaminase, Intrauterine growth retardation	OMIM:189800
Iminoglycinuria	Prolinuria, Hyperglycinemia, Hydroxyprolinuria, Hyperprolinemia, Hydroxyprolinemia, Hyperglycinuria	ORPHA:42062
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Nephropathy, Macroscopic ...	ORPHA:79233
Spastic Paraplegia-Nephritis-Deafness Syndrome	Severe short stature, Nephropathy, Proteinuria	ORPHA:2820
Hyper-Beta-Alaninemia	Hyperbeta-alaninemia, Failure to thrive, Increased urinary taurine	OMIM:237400
Hyperchlorhidrosis, Isolated	Hyperkalemia, Hyponatremia	OMIM:143860
Complement Factor H Deficiency	Glomerular subendothelial electron-dense deposits, Hematuria, Thickened glomerular basement membr...	OMIM:609814
Idiopathic Non-Lupus Full-House Nephropathy	Nephrotic syndrome, Acute kidney injury, Glomerulonephritis, Glomerular C3 deposition, Proteinuri...	ORPHA:567544
Hyperprolinemia, Type Ii	Prolinuria, Hyperglycinuria, Hyperprolinemia, Hydroxyprolinuria	OMIM:239510
Acute Intermittent Porphyria	Urinary incontinence, Porphyrinuria, Proximal muscle weakness in lower limbs, Urinary retention, ...	ORPHA:79276
Sucrase-Isomaltase Deficiency, Congenital	Nephrolithiasis, Decreased mucosal sucrase-isomaltase activity	OMIM:222900
Homocystinuria Due To Deficiency Of N(5,10)-Methylenetetrahydrofolate Reductase Activity	Muscle weakness, Homocystinuria, Hyperhomocystinemia	OMIM:236250
Gracile Syndrome	Aminoaciduria, Increased circulating ferritin concentration, Increased serum pyruvate, Intrauteri...	OMIM:603358
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Unconjugated hyperbilirubinemia, Hemoglobinuria, Jaundice, Pallor, Prolonged neonatal jaundice, D...	OMIM:300908
Galactose Epimerase Deficiency	Aminoaciduria, Jaundice, Growth delay, Weight loss	ORPHA:79238
Nephrotic Syndrome, Type 16	Proteinuria, Minimal change glomerulonephritis, Hematuria, Nephrotic syndrome	OMIM:617783
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Acquired Partial Lipodystrophy	Glomerulopathy, Progeroid facial appearance, Proteinuria, Generalized hirsutism, Microscopic hema...	ORPHA:79087
Hyperglycinuria	Calcium oxalate nephrolithiasis, Hyperglycinuria	OMIM:138500
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca...	OMIM:613092
C3 Glomerulopathy	Glomerular extracapillary hypercellularity, Nephrotic syndrome, Acute kidney injury, Stage 5 chro...	ORPHA:329918
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Hepatitis, Hemoglobinuria, Jaundice, Pallor, Increased circulating ferritin concentration	OMIM:194380
Coenzyme Q10 Deficiency, Primary, 6	Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Steroid-resistant nephr...	OMIM:614650
Hypercalcemia, Infantile, 1	Weight loss, Medullary nephrocalcinosis, Failure to thrive, Polyuria, Hypercalcemia, Nephrocalcin...	OMIM:143880
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Hematuria	OMIM:607832
Wilson Disease	Aminoaciduria, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Nephrolithia...	OMIM:277900
Galloway-Mowat Syndrome 8	Renal tubular atrophy, Nephrotic syndrome, Stage 5 chronic kidney disease, Hematuria, Proteinuria...	OMIM:618349
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Increased phosphoribosylpyrophosphate synthetase level, Uric acid nephrolithiasis, Crystalluria, ...	ORPHA:411543
3-Hydroxyisobutyric Aciduria	Aminoaciduria, Failure to thrive, Abnormality of neuronal migration	OMIM:236795
Dibasic Amino Aciduria I	Argininuria, Hyperlysinuria, Ornithinuria, Dibasicaminoaciduria	OMIM:222690
Cholestasis, Progressive Familial Intrahepatic, 12	Elevated circulating alanine aminotransferase concentration, Short stature, Jaundice, Hyperbiliru...	OMIM:620010
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome	Hyponatremia	ORPHA:3225
C3 Glomerulopathy 3	Mesangial matrix expansion, Stage 5 chronic kidney disease, Thickening of glomerular capillary wa...	OMIM:614809
Hanac Syndrome	Renal insufficiency, Hematuria, Multiple renal cysts	ORPHA:73229
Cryofibrinogenemia, Familial Primary	Hematuria, Transient nephrotic syndrome, Acrocyanosis	OMIM:123540
Dent Disease 1	Renal phosphate wasting, Aminoaciduria, Proximal tubulopathy, Short stature, Stage 5 chronic kidn...	OMIM:300009
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Hypouricemia, Renal, 2	Nephrolithiasis, Hypouricemia	OMIM:612076
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Hyperuricemia, Short stature, Renal cyst, Nephropathy, Elevated circulating creatinine concentrat...	OMIM:617056
Glycogen Storage Disease V	Hyperuricemia, Elevated circulating creatine kinase concentration, Muscle weakness, Myoglobinuria...	OMIM:232600
Hartnup Disorder	Cutaneous photosensitivity, Neutral hyperaminoaciduria, Short stature	OMIM:234500
Polycystic Kidney Disease 7	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal atrophy, Multiple renal cysts,...	OMIM:620056
Hellp Syndrome	Acute kidney injury, Hemoglobinuria, Elevated hepatic transaminase, Increased circulating lactate...	ORPHA:244242
Distal 16P11.2 Microdeletion Syndrome	Vesicoureteral reflux, Hyperuricemia, Abnormality of the kidney, Renal agenesis, Proteinuria, Obe...	ORPHA:261222
Stimmler Syndrome	Aminoaciduria, Intrauterine growth retardation, Short stature	ORPHA:3199
Stiff Skin Syndrome	Lack of skin elasticity, Abnormal circulating lipid concentration, Short stature, Muscle weakness...	ORPHA:2833
Spastic Paraplegia 9B, Autosomal Recessive	Urinary incontinence, Short stature, Urinary retention, Foot dorsiflexor weakness, Growth delay	OMIM:616586
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Limb muscle weakness, Paroxysmal nocturnal hemoglobinuria	OMIM:612300
Hyperprolinemia, Type I	Prolinuria, Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria	OMIM:239500
Fanconi Renotubular Syndrome 1	Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Renal...	OMIM:134600
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Stage 5 chronic kidney disease, Elevated circulating creatine kinase concentration, Distal muscle...	OMIM:614455
Focal Segmental Glomerulosclerosis 5	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:613237
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Distal renal tubular acidosis, Muscle weakness, Impaired urinary acidification, Neph...	OMIM:179800
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria, Urticaria	OMIM:615399
Hydroxyprolinemia	Hydroxyprolinemia, Microscopic hematuria	OMIM:237000
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Abnormal tubulointerstitial morphology, Nephropathy, Elevated hepatic transaminase, Chronic kidne...	OMIM:602114
Immunodeficiency, Common Variable, 6	Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Purpura, Mesangial ...	OMIM:613496
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Abnormal glomerular mesangium morphology...	ORPHA:84090
Combined Oxidative Phosphorylation Deficiency 52	Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hyperalaninemia, Hype...	OMIM:619386
Cerebral Creatine Deficiency Syndrome 3	Organic aciduria, Failure to thrive, Gowers sign	OMIM:612718
Bardet-Biedl Syndrome 18	Stage 5 chronic kidney disease, Renal insufficiency, Obesity	OMIM:615995
Hypoadrenocorticism, Familial	Hypoglycemia, Hyperkalemia, Hyponatremia	OMIM:240200
Tiglic Acidemia	Aminoaciduria	OMIM:275190
Hematuria, Benign Familial, 1	Hematuria, Thin glomerular basement membrane	OMIM:141200
Paroxysmal Cold Hemoglobinuria	Hemoglobinuria, Abnormal urinary color	ORPHA:90035
Dent Disease	Renal tubular atrophy, Aminoaciduria, Non-acidotic proximal tubulopathy, Proximal tubulopathy, Re...	ORPHA:1652
Hypomagnesemia 3, Renal	Hyperuricemia, Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiu...	OMIM:248250
Iminoglycinuria	Prolinuria, Hyperglycinuria, Hydroxyprolinuria	OMIM:242600
Camptodactyly 1	Increased urinary taurine	OMIM:114200
Neonatal Severe Primary Hyperparathyroidism	Aminoaciduria, Short stature	ORPHA:417
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts	OMIM:609886
Bardet-Biedl Syndrome 14	Renal insufficiency, Obesity	OMIM:615991
Homozygous 11P15-P14 Deletion Syndrome	Renal tubular dysfunction, Failure to thrive, Generalized aminoaciduria	OMIM:606528
Galactosemia I	Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Increased level of ga...	OMIM:230400
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Proteinuria, Hematuria, Membranoproliferative glomerulonephritis, Nephrotic syndrome	OMIM:613913
Lesch-Nyhan Syndrome	Renal insufficiency, Hyperuricemia, Hematuria	ORPHA:510
Porphyria, Acute Intermittent	Urinary incontinence, Respiratory paralysis, Urinary retention, Dysuria, Muscle weakness, Elevate...	OMIM:176000
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency, Obesity	OMIM:615987
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Aminoaciduria, Renal tubular acidosis, Glycosuria, Jaundice, Elevated hepatic transaminase, Lisse...	OMIM:613404
Idiopathic Hypercalciuria	Abnormal circulating calcium concentration, Calcium oxalate nephrolithiasis, Parathormone-indepen...	ORPHA:2197
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Nephropathy, Hematuria, Nephrolithiasis	ORPHA:2196
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypercalciuria, Hypouricemia	OMIM:242050
Medullary Sponge Kidney	Hypercalciuria, Hematuria, Nephrolithiasis, Distal renal tubular acidosis	ORPHA:1309
Lessel-Kubisch Syndrome	Premature graying of hair, Short stature, Sparse pubic hair, Renal hypoplasia, Renal insufficiency	OMIM:618681
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Anuria, Acute kidney injury, Hemoglobinuria, Unconjugated hyperbilirubinemia, Hypokalemia, Hypona...	ORPHA:90038
Carbamoyl-Phosphate Synthetase 1 Deficiency	Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication, Hypoargininemia	ORPHA:147
Ulna Metaphyseal Dysplasia Syndrome	Nephrolithiasis, Short stature	ORPHA:1837
Cednik Syndrome	Short stature, Nephrotic syndrome, Pachygyria, Poor head control, Proteinuria, Polymicrogyria	ORPHA:66631
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Elevated alkaline phosphatase of bone origin, Short stature, Increased circulating beta-C-termina...	ORPHA:157215
Saccharopinuria	Hyperlysinemia, Hyperlysinuria, Short stature, Citrullinuria, Cystinuria, Abnormality of circulat...	ORPHA:3124
Xanthinuria, Type I	Reduced xanthine dehydrogenase level, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia,...	OMIM:278300
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Aminoaciduria, Gowers sign, Elevated circulating creatine kinase concentration, Facial diplegia, ...	OMIM:609560
Paroxysmal Nocturnal Hemoglobinuria	Reduced haptoglobin level, Acute kidney injury, Hemoglobinuria, Glycosuria, Jaundice, Abnormal er...	ORPHA:447
Mitochondrial Complex Iii Deficiency, Nuclear Type 3	Elevated circulating alanine aminotransferase concentration, Alaninuria, Elevated circulating asp...	OMIM:615158
Carnosinase Deficiency	Carnosinuria	ORPHA:1361
Nephrotic Syndrome, Type 7	Hemolytic-uremic syndrome, Nephrotic syndrome, Acute kidney injury, Stage 5 chronic kidney diseas...	OMIM:615008
Focal Segmental Glomerulosclerosis 2	Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomeruloscleros...	OMIM:603965
Papillorenal Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Short stature, Stage 5 chronic kidney diseas...	OMIM:120330
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Short stature, Hypokalemia, Increased circulating renin level, Decreased glome...	OMIM:601198
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Aminoaciduria, Proximal tubulopathy, External ophthalmoplegia, Weight loss, Cachexia, Failure to ...	OMIM:612075
Focal Segmental Glomerulosclerosis 7	Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta...	OMIM:616002
Fowler Urethral Sphincter Dysfunction Syndrome	Urinary incontinence, Urinary retention, Dysuria, Hirsutism, Abnormality of the urethra	ORPHA:2795
Hydroxykynureninuria	Aminoaciduria, Jaundice	OMIM:236800
Camptodactyly-Taurinuria Syndrome	Aminoaciduria, Increased urinary taurine	ORPHA:1325
Cog7-Cdg	Small for gestational age, Abnormality of the kidney, Jaundice, Elevated hepatic transaminase, El...	ORPHA:79333
Diaminopentanuria	Hyperlysinuria, Cystinuria	OMIM:222350
Hyperuricemia, Hprt-Related	Renal insufficiency, Hyperuricemia, Nephrolithiasis, Hyperuricosuria	OMIM:300323
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Coenzyme Q10 Deficiency, Primary, 8	Elevated circulating creatinine concentration, Renal dysplasia, Small for gestational age, Muscle...	OMIM:616733
Nephrotic Syndrome, Type 2	Nephrotic syndrome, Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental ...	OMIM:600995
Nephrotic Syndrome, Type 15	Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Steroid-resistant...	OMIM:617609
Cutis Laxa, Autosomal Dominant 3	Cutis laxa, Premature skin wrinkling, Unilateral renal agenesis, Intrauterine growth retardation,...	OMIM:616603
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome	Aminoaciduria	ORPHA:79156
Nephrotic Syndrome, Type 18	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:618177
Nephrotic Syndrome, Type 19	Stage 3 chronic kidney disease, Focal segmental glomerulosclerosis, Steroid-resistant nephrotic s...	OMIM:618178
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Renal cortical hyperechogenicity, Short stature, Beta 2-microglobulinuria, Medullary nephrocalcin...	OMIM:611555
Nephrotic Syndrome, Type 20	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome	OMIM:616032
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Hydroureter, Nephrolithiasis, Postnatal growth retardation	OMIM:617219
Carnosinemia	Carnosinuria	OMIM:212200
Nephrotic Syndrome, Type 9	Stage 5 chronic kidney disease, Glomerular sclerosis, Proteinuria, Steroid-resistant nephrotic sy...	OMIM:615573
Bardet-Biedl Syndrome 16	Short stature, Renal dysplasia, Stage 5 chronic kidney disease, Renal agenesis, Renal cyst, Renal...	OMIM:615993
Hydroxylysinuria	Hyperlysinuria	OMIM:236900
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Aminoaciduria, Methylmalonic acidemia, Ophthalmoplegia, Elevated circulating creatine kinase conc...	OMIM:612073
Autosomal Dominant Polycystic Kidney Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit...	ORPHA:730
Hyperlysinuria With Hyperammonemia	Hyperlysinemia, Hyperlysinuria, Dibasicaminoaciduria, Hyperammonemia, Growth delay	OMIM:238750
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Distal upper limb muscle weakness, Proximal muscle weakness, Progressive proximal muscle weakness...	OMIM:620138
Wound Botulism	Diaphragmatic paralysis, Muscle weakness, Urinary retention, Respiratory insufficiency due to mus...	ORPHA:178475
Nephrotic Syndrome, Type 23	Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Mesangial hyper...	OMIM:619201
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hyperuricemia, Decreased plasma carnitine, Increased level of 3-hydroxy-3-methylglutaric acid in ...	OMIM:246450
Hypophosphatemic Rickets, X-Linked Recessive	Renal phosphate wasting, Proximal tubulopathy, Short stature, Hypophosphatemia, Hypophosphatemic ...	OMIM:300554
Primary Pigmented Nodular Adrenocortical Disease	Alopecia, Striae distensae, Proximal muscle weakness, Abnormal subcutaneous fat tissue distributi...	ORPHA:189439
Hyperlysinemia, Type I	Hyperlysinemia, Hyperlysinuria	OMIM:238700
Glutamate Formiminotransferase Deficiency	Aminoaciduria, Growth delay, Positive ferric chloride test	OMIM:229100
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Hematuria, Purpura, Proteinuria, Renal insufficiency	ORPHA:375
Camos Syndrome	Renal insufficiency, Nephrotic syndrome	ORPHA:83472
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Abnormal circulating lipid concentration, External ophthalmoplegia, Muscle weakne...	ORPHA:225
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Foix-Alajouanine Syndrome	Urinary incontinence, Urinary retention, Neurogenic bladder, Lower limb muscle weakness, Muscle w...	ORPHA:79093
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To	Reduced glutathione synthetase level, Glyoxalase deficiency, Increased level of L-pyroglutamic ac...	OMIM:231900
Congenital Megacalycosis	Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En...	ORPHA:93109
Fanconi Renotubular Syndrome 3	Aminoaciduria, Short stature, Glycosuria, Hyperphosphaturia, Growth delay, Low-molecular-weight p...	OMIM:615605
Focal Segmental Glomerulosclerosis 10	Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuria, Renal insufficien...	OMIM:256020
Angioma, Hereditary Neurocutaneous	Hematuria	OMIM:106070
Glycogen Storage Disease Vii	Increased total bilirubin, Hyperuricemia, Exercise-induced myoglobinuria, Jaundice, Muscle weakness	OMIM:232800
Phosphoribosylpyrophosphate Synthetase Superactivity	Urolithiasis, Increased phosphoribosylpyrophosphate synthetase level, Uric acid nephrolithiasis, ...	OMIM:300661
Amyloidosis, Familial Visceral	Nephropathy, Hematuria, Proteinuria, Nephrotic syndrome	OMIM:105200
Purine Nucleoside Phosphorylase Deficiency	Decreased urinary urate, Hypouricemia	ORPHA:760
Congenital Isolated Acth Deficiency	Hypoglycemic seizures, Hyperkalemia, Neonatal hypoglycemia, Hyponatremia	ORPHA:199296
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased lecithin cholesterol acyl transferase level, Decreased HDL cholesterol concentration, P...	OMIM:245900
Cryoglobulinemic Vasculitis	Glomerulopathy, Petechiae, Skin ulcer, Hematuria, Purpura, Cutis marmorata, Viral hepatitis, Musc...	ORPHA:91138
Cystinosis	Aminoaciduria, Short stature, Hypophosphatemia, Hypokalemia, Failure to thrive, Nephropathy, Dela...	ORPHA:213
Netherton Syndrome	Aminoaciduria, Sparse eyebrow, Sparse scalp hair, Trichorrhexis nodosa, Short stature, Fine hair,...	ORPHA:634
Primary Hyperoxaluria Type 1	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Dysuria, Nephrocalcinosis, Ca...	ORPHA:93598
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis	Aminoaciduria, Severe short stature	OMIM:204730
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Renal phosphate wasting, Abnormal circulating calcium concentration, Hypophosphatemia, Hypercalci...	OMIM:241530
Botulism	Diaphragmatic paralysis, Diaphragmatic weakness, Muscle flaccidity, Urinary retention	ORPHA:1267
Nephronophthisis-Like Nephropathy 2	Stage 5 chronic kidney disease, Polyuria, Tubular luminal dilatation, Elevated circulating creati...	OMIM:619468
Autosomal Recessive Spastic Paraplegia Type 9B	Pollakisuria, Short stature, Urinary retention, Muscle weakness, Growth delay	ORPHA:447760
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Alopecia, Striae distensae, Proximal muscle weakness, Renal cell carcinoma, Bruising susceptibili...	ORPHA:189427
Iatrogenic Botulism	Diaphragmatic paralysis, Muscle weakness, Urinary retention	ORPHA:254509
Homocarnosinosis	Carnosinuria	OMIM:236130
Indolylacroyl Glycinuria With Mental Retardation	Hyperglycinuria	OMIM:243050
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Stage 5 chronic kidney disease, Hematuria...	OMIM:612925
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal blood ion concentration, Abnormality of the bladder, Abnormality of ...	ORPHA:79404
Alpha-Aminoadipic And Alpha-Ketoadipic Aciduria	Alpha-aminoadipic aciduria, 2-hydroxyadipic aciduria	OMIM:204750
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young	OMIM:613370
Phosphohydroxylysinuria	Phosphohydroxylysinuria	OMIM:615011
Cystathioninuria	Cystathioninuria	OMIM:219500
Beta-Aminoisobutyric Aciduria	Beta-aminoisobutyric aciduria	OMIM:210100
Foodborne Botulism	Diaphragmatic paralysis, Muscle weakness, Urinary retention, Respiratory insufficiency due to mus...	ORPHA:228371
Glucose-Galactose Malabsorption	Weight loss, Hematuria, Failure to thrive, Hypercalcemia, Renal insufficiency, Hypernatremia, Nep...	ORPHA:35710
Azoospermia, Obstructive, With Nephrolithiasis	Nephrolithiasis	OMIM:301060
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyperuricemia, Renal salt wasting, Failure to thrive, Increased blood urea nitrogen, Polyuria, Hy...	OMIM:613845
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Aminoaciduria, Short stature, Cachexia, Elevated circulating creatine kinase concentration, Methy...	ORPHA:1933
Argininosuccinic Aciduria	Aminoaciduria, Trichorrhexis nodosa, Short stature, Oroticaciduria, Abnormal hair quantity, Hyper...	ORPHA:23
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria	OMIM:266120
Phenylketonuria	Aminoaciduria	ORPHA:716
Lesch-Nyhan Syndrome	Hyperuricemia, Short stature, Poor head control, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria	OMIM:300322
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Renal dysplasia, Cystic renal dysplasia, Renal insufficiency, Hyperechogen...	OMIM:601331
Cystinuria	Renal insufficiency, Hyperuricemia, Hematuria, Nephrolithiasis	ORPHA:214
Adrenomyeloneuropathy	Urinary incontinence, Urinary bladder sphincter dysfunction, Urinary retention, Urinary urgency, ...	ORPHA:139399
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Tubulointerstitial nephritis, Reduced carnitine O-palmitoyltransferase level, Elevated circulatin...	ORPHA:228302
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal tubular atrophy, Hyperuricemia, Nephritis, Nephropathy, Decreased glomerular filtration rat...	OMIM:162000
Glycogen Storage Disease Ia	Hyperuricemia, Short stature, Enlarged kidney, Elevated hepatic transaminase, Delayed puberty, De...	OMIM:232200
Coenzyme Q10 Deficiency, Primary, 3	Proteinuria, Hypoalbuminemia, Nephrotic syndrome	OMIM:614652
Sulfite Oxidase Deficiency, Isolated	Sulfite oxidase deficiency, Fine hair, Elevated circulating creatine kinase concentration, Increa...	OMIM:272300
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Rhizomelia, Short stature, Stage 5 chronic kidney disease, Supernumerary nipple, Chronic tubuloin...	OMIM:614376
Distal Renal Tubular Acidosis	Aminoaciduria, Proximal tubulopathy, Hypocitraturia, Short stature, Hypermagnesiuria, Hyperphosph...	ORPHA:18
Genetic Recurrent Myoglobinuria	Hyperphosphatemia, Lower limb muscle weakness, Acute kidney injury, Exercise-induced myoglobinuri...	ORPHA:99845
Heme Oxygenase 1 Deficiency	Elevated circulating alanine aminotransferase concentration, Hematuria, Nephritis, Elevated circu...	OMIM:614034
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620126
Transaldolase Deficiency	Telangiectasia, Abnormality of the kidney, Premature skin wrinkling, Increased serum bile acid co...	ORPHA:101028
Galloway-Mowat Syndrome 2, X-Linked	Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephri...	OMIM:301006
Focal Segmental Glomerulosclerosis 1	Stage 5 chronic kidney disease, Hyperlipidemia, Proteinuria, Focal segmental glomerulosclerosis, ...	OMIM:603278
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Tubulointerstitial nephritis, Sparse eyebrow, Hypoplastic toenails, Sparse scalp hair, Short stat...	OMIM:616901
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot pr...	OMIM:619155
Methionine Malabsorption Syndrome	Aminoaciduria, White hair, Positive ferric chloride test	OMIM:250900
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Renal tubular atrophy, Aminoaciduria, Renal tubular acidosis, Small for gestational age, Jaundice...	OMIM:208085
Intellectual Developmental Disorder, Autosomal Dominant 54	Short stature, Urinary retention, Small for gestational age, Thin nail, Growth delay, Poor head c...	OMIM:617799
Mercaptolactate-Cysteine Disulfiduria	Aminoaciduria	OMIM:249650
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,...	OMIM:612926
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:620125
Spinocerebellar Ataxia, Autosomal Recessive 23	Hyponatremia	OMIM:616949
Cryoglobulinemia, Familial Mixed	Hematuria, Abnormal renal physiology, Elevated circulating creatinine concentration, Proteinuria,...	OMIM:123550
Glutathionuria	Urinary incontinence, Gray matter heterotopia, Reduced gamma-glutamyltransferase level, Glutathio...	OMIM:231950
Hepatic Veno-Occlusive Disease	Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Renal insufficiency, Increase...	ORPHA:890
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Late-onset proximal muscle weakness, Weight loss, Urinary retention, Transi...	ORPHA:79102
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis, Hypercalciuria	OMIM:612286
Renal Hypoplasia, Bilateral	Vesicoureteral reflux, Short stature, Beta 2-microglobulinuria, Microscopic hematuria, Glycosuria...	ORPHA:97362
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Severe short stature, Nephropathy, Decreased glomerular filtration rate, Elevated circulating cre...	OMIM:242530
Non-Functioning Paraganglioma	Weight loss, Hematuria, Elevated urinary epinephrine, Elevated urinary dopamine, Pallor, Flushing...	ORPHA:94080
Lipoyltransferase 1 Deficiency	Increased total bilirubin, Alaninuria, Elevated hepatic transaminase, Lacticaciduria, Hyperprolin...	OMIM:616299
Flotch Syndrome	Sparse eyelashes, Nephrolithiasis, Abnormal eyelash morphology, Abnormality of the nail	ORPHA:2045
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Short stature, Methylmalonic acidemia, Hyperhomocystinemia, Failure to thrive, Methylmalonic acid...	OMIM:309541
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Hypertryptophanemia	Hypertryptophanemia, Tryptophanuria	OMIM:600627
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration, Muscle wea...	OMIM:268200
Inhalational Botulism	Muscle weakness, Urinary retention	ORPHA:254504
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Hematuria, Increased blood urea nitrogen,...	OMIM:612924
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Pachygyria, Nephrolithiasis, Lissencephaly	OMIM:619827
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hypophosphatemia, Hyperphosphaturia, Nephrolithiasis	OMIM:612287
Cystinosis, Nephropathic	Reduced blood urea nitrogen, Aminoaciduria, Hyperphosphaturia, Decreased plasma carnitine, Hypoph...	OMIM:219800
Solitary Fibrous Tumor/Hemangiopericytoma	Weight loss, Reduced C-peptide level, Hypophosphatemic rickets, Urinary retention	ORPHA:2126
Nephrotic Syndrome, Type 12	Stage 5 chronic kidney disease, Hematuria, Diffuse mesangial sclerosis, Steroid-resistant nephrot...	OMIM:616892
Pituitary Adenoma 4, Acth-Secreting	Facial erythema, Striae distensae, Hypokalemia, Purpura, Bruising susceptibility, Ecchymosis, Hir...	OMIM:219090
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Podocyte foot process effacement, Minimal change glomerulonephritis, Proteinuria, Nephrotic syndrome	OMIM:617006
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Short stature, Abnormality of the kidney, Elevated hepatic transaminase, Failure to thrive, Delay...	ORPHA:369
2,4-Dienoyl-Coa Reductase Deficiency	Hyperlysinemia, Hyperlysinuria, Decreased plasma free carnitine, Failure to thrive, Poor head con...	OMIM:616034
Hyperparathyroidism 4	Nephrolithiasis, Hypercalcemia	OMIM:617343
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Nephrolithiasis, Short stature	OMIM:620023
Alport Syndrome 3, Autosomal Dominant	Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo...	OMIM:104200
Tyrosinemia Type 1	Acute hepatic failure, Generalized aminoaciduria	ORPHA:882
Hereditary Amyloidosis With Primary Renal Involvement	Renal tubular atrophy, Tubulointerstitial nephritis, Renal insufficiency, Weight loss, Nephrotic ...	ORPHA:85450
Argininemia	Hyperammonemia, Diaminoaciduria	ORPHA:90
Dermotrichic Syndrome	Hyperconvex toenail, Aminoaciduria, Proportionate short stature, Nail dystrophy	ORPHA:99688
Primary Hyperoxaluria Type 3	Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur...	ORPHA:93600
Galloway-Mowat Syndrome 6	Decreased body weight, Short stature, Nephrotic syndrome, Growth delay, Proteinuria, Focal segmen...	OMIM:618347
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Nephrolithiasis, Progressive external ophthalmo...	ORPHA:352447
Fatal Familial Insomnia	Weight loss, Urinary retention	OMIM:600072
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Glomerular deposits	ORPHA:69063
Proximal Renal Tubular Acidosis	Aminoaciduria, Hyperuricosuria, Short stature, Glycosuria, Hyperphosphaturia, Bicarbonate-wasting...	ORPHA:47159
Cockayne Syndrome Type 3	Dry hair, Cutaneous photosensitivity, Urinary retention, Neurogenic bladder, Premature graying of...	ORPHA:90324
Glutathione Synthetase Deficiency	Reduced glutathione synthetase level, Increased level of L-pyroglutamic acid in urine	OMIM:266130
Myoglobinuria, Autosomal Dominant	Acute kidney injury, Muscle weakness, Myoglobinuria, Elevated circulating creatine kinase concent...	OMIM:160010
Amyloidosis, Finnish Type	Bulbar palsy, Renal insufficiency, Cutis laxa, Nephrotic syndrome	OMIM:105120
Cog5-Cdg	Urinary incontinence, Short stature, Neurogenic bladder, Premature skin wrinkling, Elevated hepat...	ORPHA:263487
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss	Nephrolithiasis, Renal tubular acidosis	OMIM:267300
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Hematuria	OMIM:120433
Relapsing Fever	Increased total bilirubin, Increased circulating lactate dehydrogenase concentration, Acute kidne...	ORPHA:91547
Nephrotic Syndrome, Type 6	Nephrotic syndrome, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Proteinuri...	OMIM:614196
Hsd10 Disease	Abnormal urinary acylglycine profile, Postnatal growth retardation, Elevated urinary 3-hydroxybut...	ORPHA:391417
Nephronophthisis 20	Vesicoureteral reflux, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Renal insuff...	OMIM:617271
Fanconi Renotubular Syndrome 2	Renal phosphate wasting, Proximal tubulopathy, Short stature, Glycosuria, Hypophosphatemia, Gener...	OMIM:613388
Purine Nucleoside Phosphorylase Deficiency	Recurrent urinary tract infections, Failure to thrive, Increased circulating guanosine concentrat...	OMIM:613179
Renal Cysts And Diabetes Syndrome	Hyperuricemia, Abnormality of alkaline phosphatase level, Stage 5 chronic kidney disease, Abnorma...	OMIM:137920
Glutamate-Cysteine Ligase Deficiency	Aminoaciduria, Jaundice	ORPHA:33574
Galloway-Mowat Syndrome 5	Stage 5 chronic kidney disease, Proteinuria, Pachygyria, Steroid-resistant nephrotic syndrome, Fo...	OMIM:617731
Familial Reactive Perforating Collagenosis	Abnormal fingernail morphology, Dermatological manifestations of systemic disorders, Chronic kidn...	ORPHA:79147
Imerslund-Grasbeck Syndrome 1	Proteinuria, Microscopic hematuria	OMIM:261100
Myasthenic Syndrome, Congenital, 22	Muscle weakness, Short stature, Proximal muscle weakness, Cystinuria	OMIM:616224
Fanconi Renotubular Syndrome 5	Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypophosphatemic ric...	OMIM:618913
Rhabdoid Tumor	Oculomotor nerve palsy, Weight loss, Hematuria, Renal neoplasm, Hypercalcemia	ORPHA:69077
Paget Disease Of Bone 5, Juvenile-Onset	Hyperphosphatemia, Hyperuricemia, Short stature, Hydroxyprolinuria, Elevated circulating alkaline...	OMIM:239000
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria	ORPHA:833
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hypoglycemia, Hyperkalemia, Hyponatremia	OMIM:614736
Parkes Weber Syndrome	Urinary retention, Nephrotic syndrome, Prominent superficial blood vessels, Lower limb muscle wea...	ORPHA:90307
Hyperparathyroidism 2 With Jaw Tumors	Nephroblastoma, Papillary renal cell carcinoma, Polycystic kidney dysplasia, Renal cortical adeno...	OMIM:145001
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hypermagnesiuria, Renal calci...	OMIM:248190
Ornithine Transcarbamylase Deficiency	Aminoaciduria, Hepatic failure, Hyperammonemia	ORPHA:664
Nephronophthisis	Renal insufficiency	ORPHA:655
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Aminoaciduria, Generalized muscle weakness, Glycosuria, Hyperphosphaturia, Fatigable weakness of ...	ORPHA:436271
Hypocalciuric Hypercalcemia, Familial, Type Iii	Multiple small medullary renal cysts, Hypophosphatemia, Parathormone-independent increased renal ...	OMIM:600740
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Decreased methionine synthase activity, Hyperhomocystinemia, Hypomethioninemia, Failure to thrive...	OMIM:250940
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Urinary retention, Jaundice, Elevated hepatic transaminase, Chronic hepatic failure, Portal hyper...	ORPHA:79124
Multiple Acyl-Coa Dehydrogenase Deficiency	Proximal tubulopathy, Renal cortical cysts, Glycosuria, Polycystic kidney dysplasia, Jaundice, Ge...	OMIM:231680
Glycogen Storage Disease Ib	Hyperuricemia, Short stature, Enlarged kidney, Elevated hepatic transaminase, Delayed puberty, De...	OMIM:232220
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal tubular atrophy, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic kidney diseas...	OMIM:174000
Hereditary Mucoepithelial Dysplasia	Alopecia, Hematuria, Fine hair, Abnormality of the bladder, Sparse hair	ORPHA:1839
Nephrotic Syndrome, Type 3	Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Proteinuria, Foc...	OMIM:610725
Fanconi-Bickel Syndrome	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Renal tubular acido...	ORPHA:2088
Autosomal Recessive Spastic Paraplegia Type 76	Functional abnormality of the bladder, Lower limb muscle weakness	ORPHA:488594
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Aminoaciduria, Ectodermal dysplasia, Small nail, Hypoplastic nipples, Sparse hair	OMIM:273400
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Muscle weakness, Renal insufficiency, Myoglobinuria	OMIM:255110
X-Linked Spastic Paraplegia Type 16	Functional abnormality of the bladder	ORPHA:100997
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hemolytic-uremic syndrome, Methylmalonic aciduria, Decreased methionine synthase activity, Cystat...	OMIM:277400
Nephrotic Syndrome, Type 1	Renal tubular atrophy, Congenital nephrotic syndrome, Small for gestational age, Glomerular scler...	OMIM:256300
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, ...	OMIM:613095
Idiopathic Steroid-Resistant Nephrotic Syndrome	Abnormal circulating lipid concentration, Hypertriglyceridemia, Abnormal urine output, Acute kidn...	ORPHA:567548
Sarcosinemia	Hypersarcosinuria, Hypersarcosinemia, Peroneal muscle weakness	ORPHA:3129
Hypocalcemic Vitamin D-Resistant Rickets	Alopecia, Short stature, Hypophosphatemia, Hypocalcemia, Nephrolithiasis	ORPHA:93160
Corticosterone Methyloxidase Type Ii Deficiency	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:610600
Small Cell Carcinoma Of The Bladder	Dysuria, Hematuria, Hypercalcemia, Recurrent urinary tract infections	ORPHA:284400
Hyperprolinemia Type 2	Prolinuria, Hyperalaninemia, Hyperglycinemia, Ophthalmoparesis, Increased urine alpha-ketoglutara...	ORPHA:79101
Hypercalciuria, Absorptive, 2	Calcium oxalate nephrolithiasis, Hypercalciuria	OMIM:143870
Glycogen Storage Disease 0, Liver	Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia	OMIM:240600
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Failure to thrive, Intrauterine growth retardation, Renal insuffic...	OMIM:613861
Renal Hypoplasia	Vesicoureteral reflux, Abnormal renal cortex morphology, Hydronephrosis, Renal insufficiency, Rec...	ORPHA:93101
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Failure to thrive, Renal hypoplasia	OMIM:604273
Corticosterone Methyloxidase Type I Deficiency	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:203400
Glycogen Storage Disease Xi	Renal insufficiency, Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinas...	OMIM:612933
Glycine Encephalopathy	Hyperglycinemia, Hyperglycinuria	OMIM:605899
Medullary cystic kidney disease 2	Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Hyperu...	OMIM:603860
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Hematuria	OMIM:314000
Primary Hyperoxaluria	Elevated urine glycolate, Calcium oxalate nephrolithiasis, Stage 5 chronic kidney disease, Hematu...	ORPHA:416
Acute Adrenal Insufficiency	Hyperuricemia, Weight loss, Sparse axillary hair, Hyperkalemia, Renal salt wasting, Increased cir...	ORPHA:95409
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Calcium oxalate nephrolithiasis	OMIM:248000
Dyschondrosteosis-Nephritis Syndrome	Short stature, Hematuria, Mesomelic short stature, Nephropathy, Proteinuria, Intrauterine growth ...	ORPHA:1765
Alport Syndrome 2, Autosomal Recessive	Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Hem...	OMIM:203780
Succinic Semialdehyde Dehydrogenase Deficiency	Increased level of gamma-aminobutyric acid in urine, Decreased succinic semialdehyde dehydrogenas...	OMIM:271980
Sialidosis Type 1	Aminoaciduria, Short stature, Urinary excretion of sialylated oligosaccharides, Increased urinary...	ORPHA:812
Primary Hyperoxaluria Type 2	Renal insufficiency, Recurrent urinary tract infections, Nephrocalcinosis, Ureteral obstruction, ...	ORPHA:93599
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal cyst, Renal insufficiency, Hematuria, Elevated circulating creatine kinase concentration	OMIM:611773
Granulomatous Slack Skin	Cutis laxa, Acute kidney injury, Redundant skin, Hypercalcemia, Erythema, Nephrocalcinosis	ORPHA:33111
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Decreased methionine synthase activity, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni...	OMIM:236270
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Elevated hepatic transaminase, Elevated crea...	ORPHA:284426
Muscular Dystrophy, Cardiac Type	Carnosinuria, Elevated circulating creatine kinase concentration	OMIM:309930
Glycogen Storage Disease Due To Aldolase A Deficiency	Reduced circulating aldolase concentration, Acute kidney injury, Hyperkalemia, Elevated creatine ...	ORPHA:57
Renal Tubular Acidosis Iii	Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Drug-Induced Lupus Erythematosus	Petechiae, Hematuria, Elevated circulating creatine kinase concentration, Increased blood urea ni...	ORPHA:231111
Lethal Infantile Mitochondrial Myopathy	Fatal liver failure in infancy, Renal insufficiency, Progressive external ophthalmoplegia	ORPHA:254857
Galloway-Mowat Syndrome 4	Congenital nephrotic syndrome, Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease,...	OMIM:617730
Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate	Increased urine alpha-ketoglutarate concentration, Elevated urinary N-acetylaspartic acid level, ...	OMIM:618384
Pediatric Systemic Lupus Erythematosus	Alopecia, Increased circulating lactate dehydrogenase concentration, Nephrotic syndrome, Hematuri...	ORPHA:93552
Glycogen Storage Disease Ixd	Lower limb muscle weakness, Exercise-induced myoglobinuria, Elevated circulating creatine kinase ...	OMIM:300559
Multiple Mitochondrial Dysfunctions Syndrome 3	Generalized muscle weakness, Hyperglycinemia, Beta-aminoisobutyric aciduria, Intrauterine growth ...	OMIM:615330
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Reduced blood urea nitrogen, Decreased circulating renin level, Decreased serum creatinine, Hypon...	OMIM:300539
Acquired Ichthyosis	Renal insufficiency, Dry skin, Erythema	ORPHA:454
Nephronophthisis 13	Renal interstitial fibrosis, Stage 5 chronic kidney disease, Glomerular subepithelial immune-comp...	OMIM:614377
Glycogen Storage Disease X	Renal insufficiency, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:261670
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Nephropathy, Short stature, Proteinuria, Nephrotic syndrome	ORPHA:1192
Aica-Ribosuria Due To Atic Deficiency	Hypoglycemia, Optic atrophy, Hyponatremia	OMIM:608688
Complement Component 3 Deficiency, Autosomal Recessive	Renal insufficiency, Membranoproliferative glomerulonephritis, Nephrotic syndrome	OMIM:613779
Gapo Syndrome	Alopecia, Sparse eyebrow, Short stature, Prematurely aged appearance, Growth delay, Sparse eyelas...	ORPHA:2067
Tubulointerstitial Nephritis With Uveitis	Glomerulonephritis, Elevated circulating creatinine concentration, Reversible renal failure, Acut...	OMIM:607665
Nephrotic Syndrome, Type 8	Nephrotic syndrome, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis, Thin glomerular ...	OMIM:615244
Alstrom Syndrome	Tubulointerstitial nephritis, Alopecia, Hyperuricemia, Short stature, Chronic active hepatitis, E...	OMIM:203800
Oligomeganephronia	Renal tubular atrophy, Abnormal renal cortex morphology, Abnormal nephron morphology, Stage 5 chr...	ORPHA:2260
Porphyria Variegata	Abnormal circulating porphyrin concentration, Cutaneous photosensitivity, Porphyrinuria, Skin ves...	ORPHA:79473
Thrombotic Thrombocytopenic Purpura, Hereditary	Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Jaundice, Abnormal renal physiology, Incr...	OMIM:274150
Sporadic Pheochromocytoma/Secreting Paraganglioma	Weight loss, Hematuria, Elevated urinary epinephrine, Glomerular sclerosis, Elevated urinary dopa...	ORPHA:276621
Hyperproinsulinemia	Hyperglycemia, Hyperinsulinemia	OMIM:616214
Congenital Nephrotic Syndrome, Finnish Type	Abnormal renal tubule morphology, Proteinuria, Elevated amniotic fluid alpha-fetoprotein, Nephrot...	ORPHA:839
Alagille Syndrome 2	Renal insufficiency, Renal tubular acidosis, Hematuria, Renal cyst, Renal hypoplasia, Proteinuria	OMIM:610205
Bardet-Biedl Syndrome 19	Patent ductus arteriosus, Renal hypoplasia, Renal insufficiency, Obesity, Hydronephrosis	OMIM:615996
Lethal Ataxia With Deafness And Optic Atrophy	Neck muscle weakness, Muscle weakness, Abnormal erythrocyte enzyme level, Hypouricemia	ORPHA:1187
Fructose Intolerance, Hereditary	Transient aminoaciduria, Proximal tubulopathy, Hyperuricemia, Glycosuria, Hyperphosphaturia, Jaun...	OMIM:229600
Helix Syndrome	Hypokalemia, Hypermagnesemia, Polyuria, Hypocalciuria, Renal insufficiency, Nephrolithiasis, Dry ...	OMIM:617671
Proteinuria, Chronic Benign	Renal insufficiency, Proteinuria, Albuminuria	OMIM:618884
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Aminoaciduria, Ophthalmoparesis, Glycosuria, Hyperphosphaturia, Failure to thrive, Decreased live...	OMIM:220110
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Megacystis, Nephrolithiasis, Fetal pyelectasis, Recurrent urinary tract infections	OMIM:619365
Gyrate Atrophy Of Choroid And Retina	Aminoaciduria, Abnormal hair morphology, Hyperornithinemia	ORPHA:414
Leiomyomatosis, Diffuse, With Alport Syndrome	Glomerular basement membrane lamellation, Stage 5 chronic kidney disease, Hematuria, Abnormal ren...	OMIM:308940
Nephrosialidosis	Nephropathy, Renal insufficiency, Nephrotic syndrome	OMIM:256150
Familial Expansile Osteolysis	Elevated circulating alkaline phosphatase concentration, Hydroxyprolinuria	OMIM:174810
Argininosuccinic Aciduria	Aminoaciduria, Dry hair, Trichorrhexis nodosa, Brittle hair, Episodic ammonia intoxication, Eleva...	OMIM:207900
Marcus-Gunn Syndrome	Nephrolithiasis, Postnatal growth retardation	ORPHA:91412
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Hyperuricemia, Elevated hepatic transaminase, Abnormal circulating enzyme concen...	ORPHA:348
Stormorken Syndrome	Proximal muscle weakness, Short stature, Hematuria, Bruising susceptibility, Elevated circulating...	OMIM:185070
Nephronophthisis 2	Stage 5 chronic kidney disease, Enlarged kidney, Hyperkalemia, Absence of renal corticomedullary ...	OMIM:602088
Lcat Deficiency	Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi...	ORPHA:650
Vitamin B12-Responsive Methylmalonic Acidemia	Failure to thrive, Renal insufficiency, Hyperammonemia	ORPHA:28
Lysinuric Protein Intolerance	Aminoaciduria, Short stature, Cutis laxa, Stage 5 chronic kidney disease, Fine hair, Oroticacidur...	OMIM:222700
Fumarase Deficiency	Aminoaciduria, Hepatic failure, Reduced subcutaneous adipose tissue, Hyperbilirubinemia, Pallor, ...	OMIM:606812
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Hematuria	ORPHA:1473
Diffuse Alveolar Hemorrhage	Elevated circulating creatinine concentration, Proteinuria, Hematuria, Weight loss	ORPHA:90060
Urofacial Syndrome 2	Vesicoureteral reflux, Recurrent urinary tract infections, Bladder trabeculation, Urinary urgency...	OMIM:615112
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary aminoisobutyric acid, Periventricular heterotopia, Methylmalonic acidemia, Eleva...	OMIM:614105
Becker Muscular Dystrophy	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Muscle weaknes...	ORPHA:98895
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyperkalemia, Increased circulating renin level, Hyponatremia	OMIM:177735
Ddost-Cdg	Nephrotic range proteinuria, Short stature, Elevated hepatic transaminase, Failure to thrive, Dry...	ORPHA:300536
Bartter Syndrome, Type 5, Antenatal, Transient	Hypokalemia, Hypochloremia, Increased circulating renin level, Hyponatremia	OMIM:300971
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Nephropathy, Multicystic kidney dysplasia, Renal insufficiency	ORPHA:1909
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Hypoplast...	OMIM:608836
Leber Congenital Amaurosis 1	Hyperthreoninemia, Hyperthreoninuria, Growth delay	OMIM:204000
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Nephrotic syndrome, Synophrys, Fine hair, Glomerular sclerosis, Glomerulonephritis, Hypospadias, ...	OMIM:619428
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine kinase, Elevated ci...	ORPHA:368
Hypocalciuric Hypercalcemia, Familial, Type Ii	Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnesemia, Hypocalci...	OMIM:145981
Nephrotic Syndrome, Type 11	Renal tubular atrophy, IgA deposition in the glomerulus, Nephrotic syndrome, Stage 5 chronic kidn...	OMIM:616730
Carnitine Palmitoyltransferase Ii Deficiency	Tubulointerstitial nephritis, Reduced carnitine O-palmitoyltransferase level, Hepatic failure, El...	ORPHA:157
Alg8-Cdg	Cutis laxa, Small for gestational age, Abnormality of subcutaneous fat tissue, Premature skin wri...	ORPHA:79325
Free Sialic Acid Storage Disease	Proteinuria, Skin ulcer, Failure to thrive in infancy, Nephrotic syndrome	ORPHA:834
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyperkalemia, Hyponatremia	OMIM:264350
Igg4-Related Retroperitoneal Fibrosis	Weight loss, Nephrotic syndrome, Acute kidney injury, Dysuria, Renal tubular epithelial necrosis,...	ORPHA:49041
Paternal Uniparental Disomy Of Chromosome 1	Short stature, Enlarged kidney, Membranoproliferative glomerulonephritis, Increased blood urea ni...	ORPHA:251004
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Hyperleucinemia, Ketonuria, Decreased plasma carnitine, Acute hyperammonemia, Organic a...	OMIM:210210
Acute Transverse Myelitis	Urinary incontinence, Urinary bladder sphincter dysfunction, Urinary retention, Decreased circula...	ORPHA:139417
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Elevated hepatic transaminase, Failure to thrive, Duplicated collecting system, Decreased liver f...	OMIM:617093
Immunoneurologic Disorder, X-Linked	Small for gestational age, Progressive proximal muscle weakness, Neonatal death, Functional abnor...	OMIM:300076
Congenital Hypothyroidism	Short stature, Abnormal hair morphology, Prolonged neonatal jaundice, Angiokeratoma corporis diff...	ORPHA:442
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Renal insufficiency, Myoglobinuria, Increased serum pyruvate, Elevated circulating creatine kinas...	ORPHA:2364
Hyperoxaluria, Primary, Type Ii	Calcium oxalate nephrolithiasis, Hematuria, Nephrocalcinosis, Renal insufficiency, Hyperoxaluria	OMIM:260000
Pauci-Immune Glomerulonephritis	Nephrotic range proteinuria, Tubulointerstitial nephritis, Acute kidney injury, Purpura, Glomerul...	ORPHA:93126
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hypercholesterolemia, Hyperuricemia, Short stature, Stage 5 chronic kidney disease, Enlarged kidn...	ORPHA:79259
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Aminoaciduria, Failure to thrive	OMIM:250620
Liddle Syndrome	Muscle weakness, Hypokalemia, Nephropathy, Renal insufficiency	ORPHA:526
Congenital Disorder Of Glycosylation, Type Iif	Aminoaciduria, Proteinuria, Subcutaneous hemorrhage	OMIM:603585
Legionnaires Disease	Hepatitis, Jaundice, Hematuria, Muscle weakness, Proteinuria, Hyponatremia, Renal insufficiency	ORPHA:549
Alport Syndrome	Renal tubular atrophy, IgA deposition in the glomerulus, Glomerular basement membrane lamellation...	ORPHA:63
Glanzmann Thrombasthenia	Purpura, Bruising susceptibility, Ecchymosis, Macroscopic hematuria, Spontaneous hematomas	ORPHA:849
Bohring-Opitz Syndrome	Nephroblastoma, Short stature, Urinary retention, Synophrys, Hypertrichosis, Severe failure to th...	ORPHA:97297
Nephrotic Syndrome, Type 26	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:620049
Genetic Steroid-Resistant Nephrotic Syndrome	Stage 5 chronic kidney disease, Minimal change glomerulonephritis, Foamy urine, Diffuse mesangial...	ORPHA:656
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Proteinuria, Renal insufficiency, Hypercalcemia	ORPHA:2668
Multiple Mitochondrial Dysfunctions Syndrome 1	Alpha-aminoadipic aciduria, Elevated circulating 2-hydroxybutyric acid concentration, Hyperglycin...	OMIM:605711
Myh9-Related Disease	Elevated hepatic transaminase, Nephritis, Bruising susceptibility, Nephropathy, Proteinuria, Rena...	ORPHA:182050
Late-Onset Familial Hypoaldosteronism	Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:556037
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Failure to thrive, Hyperammonemia, Acute hepatitis, Hyperornithinemia, Decreased liver function, ...	OMIM:238970
Multicentric Carpotarsal Osteolysis Syndrome	Stage 5 chronic kidney disease, Renal insufficiency, Bilateral renal atrophy, Proteinuria	OMIM:166300
Cockayne Syndrome	Urinary incontinence, Dry hair, Hyperuricemia, Cutaneous photosensitivity, Nephrotic syndrome, Ne...	ORPHA:191
Yao Syndrome	Nephrolithiasis, Weight loss	OMIM:617321
Xfe Progeroid Syndrome	Cutaneous photosensitivity, Prematurely aged appearance, Cachexia, Elevated hepatic transaminase,...	OMIM:610965
Pure Mitochondrial Myopathy	Fatigable weakness of bulbar muscles, Neck flexor weakness, Proximal muscle weakness, Gowers sign...	ORPHA:254854
Schimke Immuno-Osseous Dysplasia	Nephrotic range proteinuria, Short stature, Stage 5 chronic kidney disease, Small for gestational...	ORPHA:1830
Central Diabetes Insipidus	Hyponatremia	ORPHA:178029
Leigh Syndrome	Frontal hirsutism, Lacticaciduria, Alopecia, 3-Methylglutaconic aciduria, Hyperalaninemia, Renal ...	ORPHA:506
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Aminoaciduria, Small nail, Ketonuria, Large for gestational age, Failure to thrive, Polymicrogyria	OMIM:614520
Hereditary Fructose Intolerance	Reduced circulating aldolase concentration, Hyperuricemia, Jaundice, Hypophosphatemia, Chronic he...	ORPHA:469
Lamellar Ichthyosis	Lack of skin elasticity, Aplasia/Hypoplasia of the eyebrow, Short stature, Abnormality of the nai...	ORPHA:313
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Telangiectasia, Punctate vasculitis skin lesions, Elevated hepatic transaminase, Hematuria, Vascu...	OMIM:192315
Visceral Myopathy 1	Vesicoureteral reflux, Hydronephrosis, Urinary retention, Megacystis	OMIM:155310
Ruvalcaba Syndrome	Hematuria, Delayed puberty, Abnormal localization of kidney, Generalized hirsutism, Intrauterine ...	ORPHA:3121
Camurati-Engelmann Disease	Urinary retention, Abnormal subcutaneous fat tissue distribution, Cachexia, Elevated circulating ...	ORPHA:1328
Senior-Loken Syndrome	Stage 5 chronic kidney disease, Nephronophthisis, Short stature, Chronic kidney disease	ORPHA:3156
Giant Cell Arteritis	Alopecia, Hepatic failure, Weight loss, Ophthalmoparesis, Skin ulcer, Hematuria, Muscle weakness,...	ORPHA:397
Combined Deficiency Of Factor V And Factor Viii	Bruising susceptibility, Hyperuricemia, Hematuria, Hyperlipidemia	ORPHA:35909
Congenital Disorder Of Glycosylation, Type Iie	Elevated circulating alanine aminotransferase concentration, Short stature, Neurogenic bladder, E...	OMIM:608779
Craniofaciofrontodigital Syndrome	Patent ductus arteriosus, Palmoplantar cutis laxa, Short stature, Cutis laxa, Premature skin wrin...	ORPHA:363705
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Patent ductus arteriosus, Decreased methionine synthase activity, Methylmalonic acidemia, Hyperho...	OMIM:614857
Immunoglobulin A Vasculitis	Glomerulopathy, Angioedema, Skin ulcer, Hematuria, Purpura, Bruising susceptibility, Muscle weakn...	ORPHA:761
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Reduced carnitine O-palmitoyltransferase level, Hepatic failure, Elevated circulating acylcarniti...	ORPHA:228305
Adult-Onset Autosomal Dominant Leukodystrophy	Muscle weakness, Urinary urgency, Urinary retention, Recurrent urinary tract infections	ORPHA:99027
Galloway-Mowat Syndrome 7	Renal tubular atrophy, IgA deposition in the glomerulus, Short stature, Nephrotic syndrome, Stage...	OMIM:618348
Dermatoleukodystrophy	Progeroid facial appearance, Premature skin wrinkling	OMIM:221790
Malaria	Acute kidney injury, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Hyperinsulinism Due To Hnf4A Deficiency	Glycosuria, Elevated hepatic transaminase, Large for gestational age, Abnormal circulating fatty-...	ORPHA:263455
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Cutaneous photosensitivity, Porphyrinuria, Decrease...	ORPHA:101330
Nephrotic Syndrome, Type 14	Hypertriglyceridemia, Nephrotic syndrome, Stage 5 chronic kidney disease, Podocyte foot process e...	OMIM:617575
Coach Syndrome 3	Renal tubular atrophy, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal interst...	OMIM:619113
Acrorenal Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Abnormal renal morphology	ORPHA:971
Aa Amyloidosis	Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,...	ORPHA:85445
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Limb-girdle muscle weakness, Highly elevated creatine kinase, Exercise-induced myoglobinuria, Pro...	ORPHA:352479
Hereditary Pheochromocytoma-Paraganglioma	Weight loss, Renal cell carcinoma, Elevated urinary epinephrine, Hematuria, Glomerular sclerosis,...	ORPHA:29072
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Short stature	OMIM:249270
Early-Onset Familial Hypoaldosteronism	Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:556030
Simple Cryoglobulinemia	Weight loss, Nephrotic syndrome, Abnormality of the kidney, Purpura, Membranoproliferative glomer...	ORPHA:91139
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypocalciuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria	OMIM:145980
Hemorrhagic Fever-Renal Syndrome	Tubulointerstitial nephritis, Hyperphosphatemia, Anuria, Decreased body weight, Acute tubulointer...	ORPHA:340
Chronic Mucocutaneous Candidiasis	Recurrent urinary tract infections, Hepatitis, Skin ulcer, Hematuria, Abnormality of the nail, Ab...	ORPHA:1334
Histidinuria-Renal Tubular Defect Syndrome	Histidinuria, Hypoplastic toenails, Impaired histidine renal tubular absorption	ORPHA:2158
Focal Facial Dermal Dysplasia Type Iii	Sparse lateral eyebrow, Abnormality of the upper urinary tract, Redundant skin, Abnormal hair pat...	ORPHA:1807
Galloway-Mowat Syndrome 10	Stage 5 chronic kidney disease, Simplified gyral pattern, Podocyte foot process effacement, Diffu...	OMIM:619609
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Citrullinemia, Type Ii, Adult-Onset	Elevated circulating alanine aminotransferase concentration, Argininosuccinic aciduria, Elevated ...	OMIM:603471
Histidinuria Due To A Renal Tubular Defect	Histidinuria, Hypoplastic toenails, Impaired histidine renal tubular absorption	OMIM:235830
Diabetes Mellitus, Permanent Neonatal, 4	Diabetic ketoacidosis, Type I diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level...	OMIM:618858
Autoinflammatory-Pancytopenia Syndrome	Growth delay, Failure to thrive, Proteinuria, Membranoproliferative glomerulonephritis	OMIM:619858
Musculocontractural Ehlers-Danlos Syndrome	Subcutaneous hemorrhage, Bruising susceptibility, Redundant skin, Muscle weakness, Horseshoe kidn...	ORPHA:2953
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Aminoaciduria, Small for gestational age, Elevated circulating creatine kinase concentration, Fai...	OMIM:619055
Mitochondrial Complex I Deficiency, Nuclear Type 35	Hyperalaninemia, Redundant neck skin, Lacticaciduria, Hyperprolinemia, Elevated urinary 4-hydroxy...	OMIM:619003
Nephronophthisis 7	Nephronophthisis, Renal tubular atrophy, Stage 5 chronic kidney disease	OMIM:611498
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Short stature, Nephrotic syndrome, Small for gestational age, Mucopolysacchariduria, Proteinuria	OMIM:215250
Denys-Drash Syndrome	Nephroblastoma, Nephropathy, Proteinuria, Nephrotic syndrome	ORPHA:220
Acrogeria	Short stature, Skin ulcer, Fine hair, Telangiectasia of the skin, Prematurely aged appearance, Ex...	ORPHA:2500
Posttransplant Acute Limbic Encephalitis	Hyponatremia	ORPHA:163921
Laurence-Moon Syndrome	Short stature, Hypoplasia of penis, Renal insufficiency, Obesity, Displacement of the urethral me...	ORPHA:2377
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Tubulointerstitial nephritis, Reduced carnitine O-palmitoyltransferase level, Hepatic failure, El...	ORPHA:228308
D-Glyceric Aciduria	Patent ductus arteriosus, Aminoaciduria, Failure to thrive, Growth delay, Nonketotic hyperglycine...	OMIM:220120
Imerslund-Grasbeck Syndrome 2	Proteinuria	OMIM:618882
Nephrotic Syndrome, Type 13	Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc...	OMIM:616893
Beta-Ketothiolase Deficiency	Hyperuricemia, Weight loss, Ketonuria, Pallor, Hyperammonemia	ORPHA:134
Nephrogenic Diabetes Insipidus	Hyposthenuria, Enuresis nocturna, Short stature, Hydroureter, Failure to thrive, Growth delay, Re...	ORPHA:223
Elastoderma	Premature skin wrinkling, Cutis laxa	ORPHA:228240
Aapoaiv Amyloidosis	Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Glomerular sclerosis, Pro...	ORPHA:439232
Familial Mediterranean Fever, Autosomal Dominant	Renal amyloidosis, Renal insufficiency, Proteinuria	OMIM:134610
Birk-Landau-Perez Syndrome	Tubulointerstitial nephritis, Stage 3 chronic kidney disease, Increased circulating creatine kina...	OMIM:617595
Acute Promyelocytic Leukemia	Petechiae, Weight loss, Purpura, Hematuria, Bruising susceptibility, Ecchymosis, Muscle weakness	ORPHA:520
Dimethylglycine Dehydrogenase Deficiency	Elevated urinary N,N-dimethylglycine level, Elevated circulating N,N-dimethylglycine concentratio...	OMIM:605850
Senior-Loken Syndrome 5	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:609254
Joubert Syndrome 4	Stage 5 chronic kidney disease, Renal insufficiency, Nephronophthisis, Abnormal renal medulla mor...	OMIM:609583
Hereditary Orotic Aciduria	Patent ductus arteriosus, Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Abnormal toen...	ORPHA:30
Mucopolysaccharidosis, Type X	Dermatan sulfate excretion in urine, Disproportionate short-trunk short stature, Nephrolithiasis	OMIM:619698
Eosinophilic Granulomatosis With Polyangiitis	Tubulointerstitial nephritis, Glomerulopathy, Weight loss, Hematuria, Purpura, Acrocyanosis, Cuti...	ORPHA:183
Parathyroid Carcinoma	Nephroblastoma, Weight loss, Renal hamartoma, Hypophosphatemia, Renal cyst, Muscle weakness, Hype...	ORPHA:143
Thymic Neuroendocrine Tumor	Weight loss, Prominent veins on trunk, Hypercalcemia, Calcium nephrolithiasis	ORPHA:97289
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Short stature, Decreased serum creatinine, Hypohomocysteinemia, Failure to thrive, Muscle weaknes...	OMIM:617744
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Nephrotic syndrome, Renal dysplasia, Unilateral renal dysplasia, Hematuria, Distal renal tubular ...	OMIM:146255
Wolcott-Rallison Syndrome	Decreased body weight, Short stature, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase...	ORPHA:1667
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Calcium nephrolithiasis, Hypocalcemic seizures, Hypocalcemia	ORPHA:36913
Neuraminidase Deficiency	Short stature, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialo...	OMIM:256550
Phosphoglycerate Kinase 1 Deficiency	Muscle weakness, Exercise-induced myoglobinuria, Renal insufficiency	OMIM:300653
Hinman Syndrome	Vesicoureteral reflux, Recurrent urinary tract infections, Enuresis, Renal insufficiency, Hydrone...	ORPHA:84085
Nephronophthisis 16	Patent ductus arteriosus, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysp...	OMIM:615382
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Glomerulopathy, Multicystic kidney dysplasia, Hyperuricemia, Acute kidney injury, Renal cell carc...	ORPHA:93111
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Renal insufficiency, Hyperammonemia, Growth delay, Renal tubular dysfunction	ORPHA:289916
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating acylcarnitine concentration, Generalized muscle weakness, Small for gestatio...	OMIM:609015
Cutis Laxa, Autosomal Dominant 2	Premature skin wrinkling, Cutis laxa	OMIM:614434
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Renal insufficiency, Hematuria, Proteinuria, Angioedema	ORPHA:36412
Immunodeficiency 91 And Hyperinflammation	Hemolytic-uremic syndrome, Nephrotic syndrome, Elevated hepatic transaminase, Membranoproliferati...	OMIM:619644
Jeune Syndrome	Nephronophthisis, Nephropathy, Renal insufficiency, Short stature	ORPHA:474
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Polycystic kidney dysplasia, Jaundice, Elevated circulating long chain fatty acid ...	OMIM:214110
3-Hydroxy-3-Methylglutaric Aciduria	Hyperuricemia, Weight loss, Ketonuria, Jaundice, Elevated hepatic transaminase, Pallor, Hyperammo...	ORPHA:20
Urachal Cyst	Dysuria, Pyuria, Hematuria, Urachus fistula, Elevated circulating C-reactive protein concentratio...	ORPHA:488
Nephroblastoma	Nephroblastoma, Hematuria, Weight loss	ORPHA:654
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Hyponatremia	ORPHA:91354
Oculocerebrorenal Syndrome Of Lowe	Glomerulopathy, Aminoaciduria, Skin ulcer, Hypercholesterolemia, Hyponatremia, Nephrolithiasis, H...	ORPHA:534
Alg1-Cdg	Nephrotic syndrome, Abnormality of the kidney, Decreased liver function, Renal insufficiency, Hyp...	ORPHA:79327
Galactosemia	Hepatic failure, Hypergalactosemia, Increased level of galactitol in plasma, Jaundice, Abnormal e...	ORPHA:352
Addison Disease	Hyperuricemia, Weight loss, Sparse axillary hair, Hyperkalemia, Renal salt wasting, Increased cir...	ORPHA:85138
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Patent ductus arteriosus, Glomerulopathy, Proteinuria, Abnormal hair morphology, Renal insufficie...	ORPHA:86818
Leukonychia Totalis	Abnormal fingernail morphology, Nephrolithiasis, Abnormal eyelash morphology, Abnormal toenail mo...	ORPHA:2387
Microscopic Polyangiitis	Glomerulopathy, Subcutaneous hemorrhage, Skin ulcer, Hematuria, Cutis marmorata, Oliguria, Erythe...	ORPHA:727
Nephrotic Syndrome, Type 4	Nephroblastoma, Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency, Focal segme...	OMIM:256370
Senior-Loken Syndrome 1	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Thickening of the tubular b...	OMIM:266900
Diabetes Mellitus, Transient Neonatal, 3	Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti...	OMIM:610582
Propionic Acidemia	Hyperglycinemia, Short stature, Failure to thrive, Increased level of hippuric acid in urine, Hyp...	OMIM:606054
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypophosphatemia, Generalized aminoaciduria, Elevated circulating alkaline phosphatase concentrat...	OMIM:264700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hemolytic-uremic syndrome, Anuria, Acute kidney injury, Purpura, Increased blood urea nitrogen, H...	OMIM:235400
Nicolaides-Baraitser Syndrome	Alopecia, Long eyelashes, Severe short stature, Abnormal hair pattern, Highly arched eyebrow, Cur...	ORPHA:3051
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Abnormal renal insterstitial morphology, Renal insufficienc...	OMIM:614227
Malakoplakia	Dysuria, Urinary urgency, Skin ulcer, Hematuria, Urinary bladder inflammation, Proteinuria, Urina...	ORPHA:556
Fontaine Progeroid Syndrome	Synophrys, Reduced subcutaneous adipose tissue, Coarse hair, Prematurely aged appearance, Gray ma...	OMIM:612289
Necrotizing Enterocolitis	Hyperglycemia, Abnormal glucose homeostasis, Hyponatremia	ORPHA:391673
Infantile Nephropathic Cystinosis	Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Abnormal blood ion c...	ORPHA:411629
Coenzyme Q10 Deficiency, Primary, 1	Hepatic failure, Nephrotic syndrome, Glomerular sclerosis, Elevated circulating creatine kinase c...	OMIM:607426
Neuroleptic Malignant Syndrome	Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Acute kidney injury, Hypernatremia, Eleva...	ORPHA:94093
Orotic Aciduria	Hematuria, Oroticaciduria, Failure to thrive, Orotic acid crystalluria, Reduced orotidine 5-prime...	OMIM:258900
Multiple Carboxylase Deficiency	Alopecia, Decreased circulating biotinidase concentration, Abnormal circulating enzyme concentrat...	ORPHA:148
Trichothiodystrophy 5, Nonphotosensitive	Sparse eyebrow, Cutaneous photosensitivity, Tiger tail banding, Short stature, Brittle hair, Redu...	OMIM:300953
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Increased C-peptide level, Increased circulating free fatty acid level, Hepatic necrosis, Decreas...	ORPHA:71212
Renal Dysplasia	Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ...	ORPHA:93108
Aicardi-Goutieres Syndrome 9	Weight loss, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Elevated hepatic...	OMIM:619487
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Telangiectasia, Punctate vasculitis skin lesions, Glomerular sclerosis, Elevated gamma-glutamyltr...	ORPHA:247691
Multiple Endocrine Neoplasia Type 2	Elevated urinary catecholamines, Elevated urinary vanillylmandelic acid, Reduced subcutaneous adi...	ORPHA:653
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma, Posterior lenticonus	ORPHA:231736
Glycogen Storage Disease Ic	Spider hemangioma, Hyperuricemia, Hematuria, Delayed puberty, Decreased glomerular filtration rat...	OMIM:232240
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Reduced ratio of renal calcium clearance to creatinine clearance, Paratho...	ORPHA:405
Coach Syndrome 2	Elevated circulating creatinine concentration, Hyperechogenic kidneys, Elevated hepatic transaminase	OMIM:619111
Diffuse Neonatal Hemangiomatosis	Renal hypoplasia/aplasia, Renal insufficiency, Hypercalcemia, Patent ductus arteriosus	ORPHA:2123
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatic failure, Hepatocellular necrosis, Jaundice, Hyperbilirubinemia, Elevated hepatic transami...	OMIM:251880
Hyperparathyroidism-Jaw Tumor Syndrome	Nephroblastoma, Renal hamartoma, Hypophosphatemia, Renal cyst, Muscle weakness, Hypercalcemia, Ne...	ORPHA:99880
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis	ORPHA:3327
Frasier Syndrome	Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic syndrome	OMIM:136680
Hyperparathyroidism, Neonatal Severe	Aminoaciduria, Calcinosis, Hyperphosphaturia, Hypophosphatemia, Failure to thrive, Polyuria, Hype...	OMIM:239200
Glycogen Storage Disease Ixb	Muscle weakness, Hyperuricemia, Growth delay, Short stature	OMIM:261750
3-Methylcrotonyl-Coa Carboxylase Deficiency	Organic aciduria, Hyperammonemia, Failure to thrive in infancy, Abnormal circulating leucine conc...	ORPHA:6
Congenital Anomalies Of Kidney And Urinary Tract 2	Congenital megaureter, Renal dysplasia, Hydroureter, Ureteropelvic junction obstruction, Renal hy...	OMIM:143400
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Muscle weakness, Renal insufficiency, Myoglobinuria, Hyperbilirubinemia	ORPHA:713
Tryptophanuria With Dwarfism	Conjunctival telangiectasia, Severe short stature, Tryptophanuria, Cutaneous photosensitivity	OMIM:276100
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co...	OMIM:267700
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Patent ductus arteriosus, Rhizomelia, Short stature, Unilateral renal agenesis, Renal hypoplasia,...	OMIM:617661
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Sparse scalp hair, Dermal translucency, Absent eyelashes, Reduced subcutaneous adipose ...	OMIM:137940
Hereditary Hemorrhagic Telangiectasia	Hepatic failure, Mucosal telangiectasiae, Hematuria, Retinal telangiectasia, Conjunctival telangi...	ORPHA:774
D-Glyceric Aciduria	Increased circulating free fatty acid level, Hyperglycinemia, Abnormal circulating enzyme concent...	ORPHA:941
Fetal And Neonatal Alloimmune Thrombocytopenia	Petechiae, Purpura, Hematuria, Ecchymosis, Spontaneous hematomas	ORPHA:853
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Lissencephaly, Unilateral renal agenesis, Short stature	ORPHA:281090
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hepatic necrosis, Dicarboxylic aciduria, Growth delay, Decreased 3-hydroxyacyl-CoA dehydrogenase ...	OMIM:231530
Progeroid Syndrome, Petty Type	Short stature, Brittle hair, Cutis laxa, Reduced subcutaneous adipose tissue, Long eyelashes in i...	ORPHA:2963
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Gowers sign, Pelvic girdle muscle weakness, Myoglobinuria, Elevated circulating creatine kinase c...	ORPHA:119
Muckle-Wells Syndrome	Renal amyloidosis, Renal insufficiency, Elevated circulating C-reactive protein concentration, Sh...	OMIM:191900
Plasminogen Deficiency, Type I	Nephrolithiasis, Decreased level of plasminogen, Nephritis	OMIM:217090
Wild Type Attr Amyloidosis	Weight loss, Nephrotic syndrome, Elevated circulating alkaline phosphatase concentration, Nephrop...	ORPHA:330001
Hypocalcemic Vitamin D-Dependent Rickets	Elevated alkaline phosphatase of bone origin, Short stature, Hypophosphatemia, Generalized aminoa...	ORPHA:289157
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Elevated circulating alanine aminotransferase concentration, Hyperbilirubinemia, Elevated circula...	OMIM:619685
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome	OMIM:249660
Generalized Pseudohypoaldosteronism Type 1	Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:171876
Prune Belly Syndrome	Urogenital sinus anomaly, Vesicoureteral reflux, Patent ductus arteriosus, Multicystic kidney dys...	ORPHA:2970
Glucoglycinuria	Glycosuria, Hyperglycinuria	OMIM:138070
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Nephrolithiasis	ORPHA:369929
3-Methylglutaconic Aciduria, Type V	Elevated circulating alanine aminotransferase concentration, 3-Methylglutaconic aciduria, Elevate...	OMIM:610198
Hartnup Disease	Cutaneous photosensitivity, Neutral hyperaminoaciduria, Abnormal urinary color, Short stature	ORPHA:2116
Apparent Mineralocorticoid Excess	Short stature, Decreased circulating renin level, Renal sodium wasting, Hypokalemia, Failure to t...	ORPHA:320
Nephronophthisis 12	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:613820
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Short stature, Cutis laxa, Abnormal subcutaneous fat tissue distribution, Excessive wrinkled skin...	ORPHA:357074
Hypomagnesemia 2, Renal	Generalized muscle weakness, Hypokalemia, Hypocalciuria, Renal magnesium wasting, Renal insuffici...	OMIM:154020
Hyperoxaluria, Primary, Type I	Calcium oxalate nephrolithiasis, Hematuria, Acrocyanosis, Cutis marmorata, Nephrocalcinosis, Rena...	OMIM:259900
Leigh Syndrome With Nephrotic Syndrome	Tubulointerstitial nephritis, Renal tubular acidosis, Nephrotic syndrome, Renal cyst, Intrauterin...	ORPHA:255249
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Patent ductus arteriosus, Decreased methionine synthase activity, Cystathioninemia, Cystathioninu...	OMIM:277380
Igg4-Related Kidney Disease	Nephrotic range proteinuria, Renal interstitial immunoglobulin deposits, Decreased liver function...	ORPHA:449395
Megabladder, Congenital	Patent ductus arteriosus, Stage 5 chronic kidney disease, Multiple glomerular cysts, Hyperechogen...	OMIM:618719
Myoclonic-Astatic Epilepsy	Frontal balding, Premature skin wrinkling	ORPHA:1942
Autosomal Dominant Cutis Laxa	Cutis laxa, Dermal translucency, Premature skin wrinkling, Bladder diverticulum, Pyelonephritis, ...	ORPHA:90348
Nephrolithiasis, Calcium Oxalate	Acute kidney injury, Calcium oxalate nephrolithiasis, Hyperoxaluria, Ureteropelvic junction obstr...	OMIM:167030
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Stage 5 chronic kidney disease, Microscopic hematuria, Minimal change glomerulonephritis, Macrosc...	ORPHA:567546
Nail-Patella Syndrome	Short stature, Nephrotic syndrome, Hematuria, Glomerulonephritis, Ridged nail, Proteinuria, Conca...	OMIM:161200
Peroxisome Biogenesis Disorder 1A (Zellweger)	Patent ductus arteriosus, Aminoaciduria, Gray matter heterotopia, Polymicrogyria, Elevated circul...	OMIM:214100
Hemophilia B	Poor wound healing, Hematuria	ORPHA:98879
Alport Syndrome 1, X-Linked	Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Nep...	OMIM:301050
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Hyperalaninemia, Small for gestational age, Failure to thrive, Hypospadias, Mild proteinuria, Gro...	OMIM:619147
Agel Amyloidosis	Cutis laxa, Stage 5 chronic kidney disease, Dermatological manifestations of systemic disorders, ...	ORPHA:85448
Pseudo-Torch Syndrome 1	Patent ductus arteriosus, Petechiae, Jaundice, Elevated hepatic transaminase, Lissencephaly, Fail...	OMIM:251290
Diarrhea 1, Secretory Chloride, Congenital	Increased circulating renin level, Hypokalemia, Hypochloremia, Hyponatremia	OMIM:214700
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	3-Methylglutaconic aciduria, Limb-girdle muscle weakness, Proximal muscle weakness, Lower limb mu...	OMIM:251900
Dahlberg-Borer-Newcomer Syndrome	Short stature, Hypocalcemia, Nephropathy, Renal insufficiency, Anonychia, Generalized hirsutism	ORPHA:1563
Cholera	Hypokalemia, Abnormal blood ion concentration, Hypoglycemia, Hyponatremia, Hypocalcemia	ORPHA:173
Diabetes Mellitus, Transient Neonatal, 1	Hyperglycemia, Transient neonatal diabetes mellitus	OMIM:601410
Diabetes Mellitus, Permanent Neonatal, 1	Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, Reduced C-peptide level, Hy...	OMIM:606176
Lmna-Related Cardiocutaneous Progeria Syndrome	Premature graying of hair, Papillary renal cell carcinoma, Absent eyelashes, Premature skin wrink...	ORPHA:363618
Diarrhea 10, Protein-Losing Enteropathy Type	Coloboma, Hyponatremia, Hypocalcemia, Hypertriglyceridemia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Mucopolysaccharidosis-Plus Syndrome	Renal tubular atrophy, Patent ductus arteriosus, Nephrotic syndrome, Enlarged kidney, Synophrys, ...	OMIM:617303
Uremic Pruritus	Elevated total serum tryptase, Stage 5 chronic kidney disease, Hypermagnesemia, Increased blood u...	ORPHA:94059
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Limb-girdle muscle weakness, Renal tubular acidosis, Abnormal erythrocyte e...	ORPHA:370
Junctional Epidermolysis Bullosa With Pyloric Atresia	Renal duplication, Renal dysplasia, Urethral stricture, Hematuria, Urinary bladder inflammation, ...	ORPHA:79403
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Failure to thrive, Renal insufficiency, Hyperammonemia	ORPHA:79312
Mu-Heavy Chain Disease	Nephropathy, Bence Jones Proteinuria, Weight loss	ORPHA:100024
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Calcinosis, Hypokalemia, Growth delay, Renal artery stenosis, Hyponatremia, Renal ...	OMIM:617913
Laron Syndrome	Hypoplasia of penis, Severe short stature, Delayed puberty, Truncal obesity, Hypercholesterolemia...	ORPHA:633
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hyperphosphaturia, Hypercalcemia, Nephrocalcinosis, Renal insufficiency, Hyperc...	ORPHA:99879
Microcephalic Primordial Dwarfism, Montreal Type	Premature graying of hair, Severe short stature, Alopecia of scalp, Abnormal hair quantity, Low p...	ORPHA:2617
Microphthalmia, Syndromic 8	Premature skin wrinkling	OMIM:601349
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Reduced renal corti...	OMIM:617610
Majeed Syndrome	Glomerulopathy, Weight loss, Cachexia, Failure to thrive, Proteinuria, Microscopic hematuria	ORPHA:77297
Hereditary Coproporphyria	Abnormal circulating porphyrin concentration, Hyponatremia	ORPHA:79273
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Limb-girdle muscle weakness, Renal tubular acidosis, Short stature, Elevate...	ORPHA:79240
Castleman Disease	Renal insufficiency, Weight loss, Jaundice, Hematuria, Elevated circulating C-reactive protein co...	ORPHA:160
Porphyria Due To Ala Dehydratase Deficiency	Abnormal circulating porphyrin concentration, Increased erythrocyte protoporphyrin concentration,...	ORPHA:100924
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Hepatic failure, Hyperalaninemia, Ketonuria, Increased urine alph...	OMIM:619355
Combined Oxidative Phosphorylation Deficiency 34	Increased blood urea nitrogen, Failure to thrive, Hepatic failure, Elevated circulating creatinin...	OMIM:617872
Glycogen Storage Disease Ixa1	Hyperuricemia, Elevated hepatic transaminase, Growth delay, Hypercholesterolemia, Hypertriglyceri...	OMIM:306000
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Cachexia, Proteinuria	ORPHA:2774
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Hypermethioninemia, Methioninuria, Brittle hair, Hyperhomocystinemia, Cutis marmorata, Failure to...	OMIM:236200
Aquagenic Palmoplantar Keratoderma	Excessive skin wrinkling on dorsum of hands and fingers	ORPHA:498359
Congenital Bile Acid Synthesis Defect Type 2	Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,...	ORPHA:79303
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Nephrocalcinosis, Aminoaciduria, Growth delay, Brittle hair	OMIM:616084
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis	OMIM:612551
Lipodystrophy, Familial Partial, Type 7	Sparse scalp hair, Lower limb muscle weakness, Small for gestational age, Reduced subcutaneous ad...	OMIM:606721
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Decreased circulating renin level, Hypokalemia, Nephrolithiasis	OMIM:615474
Car T Cell Therapy-Associated Cytokine Release Syndrome	Acute kidney injury, Decreased urine output, Hyperbilirubinemia, Elevated hepatic transaminase, E...	ORPHA:542323
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Vesicoureteral reflux, Recurrent urinary tract infections, Neurogenic bladder, Failure to thrive,...	OMIM:191800
Propionic Acidemia	Organic aciduria, Hyperammonemia, Propionyl-CoA carboxylase deficiency	ORPHA:35
Schimke Immunoosseous Dysplasia	Nephrotic syndrome, Stage 5 chronic kidney disease, Small for gestational age, Disproportionate s...	OMIM:242900
Colchicine Poisoning	Hypophosphatemia, Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia, Hypo...	ORPHA:31824
Schwartz-Jampel Syndrome	Abnormal eyebrow morphology, Decreased body weight, Short stature, Long eyelashes in irregular ro...	ORPHA:800
Galloway-Mowat Syndrome	Abnormality of neuronal migration, Short stature, Nephrotic syndrome, Nephropathy, Pachygyria, Pr...	ORPHA:2065
Arima Syndrome	Renal tubular atrophy, Gray matter heterotopia, Stage 5 chronic kidney disease, Renal sodium wast...	OMIM:243910
Klippel-Trénaunay Syndrome	Patent ductus arteriosus, Hematuria	ORPHA:90308
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal tubular atrophy, Sparse eyebrow, Sparse scalp hair, Nephrotic syndrome, Fine hair, Onycholy...	OMIM:614748
Snakebite Envenomation	Hyponatremia	ORPHA:449285
Babesiosis	Jaundice, Renal insufficiency, Hepatic failure	ORPHA:108
Frasier Syndrome	Nephroblastoma, Glomerulopathy, Renal insufficiency, Nephrotic syndrome, Proteinuria, Focal segme...	ORPHA:347
Fabry Disease	Angiokeratoma, Delayed puberty, Urinary mulberry cells, Angiokeratoma corporis diffusum, Proteinu...	OMIM:301500
Lysinuric Protein Intolerance	Hyperlysinuria, Ornithinuria, Elevated hepatic transaminase, Glomerulonephritis, Hypercholesterol...	ORPHA:470
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Tubulointerstitial nephritis, Aminoaciduria, Brittle hair, Elevated hepatic transaminase, Lactica...	OMIM:124000
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Renal insufficiency, Hypertrichosis, Short stature	OMIM:247410
Fg Syndrome Type 1	Short stature, Frontal upsweep of hair, Hypospadias, Facial wrinkling, Slender build	ORPHA:93932
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Short stature, Ketonuria, Glycosuria, Elevated hepatic transaminase, Failure to thrive, Hyperlipi...	ORPHA:2089
Galloway-Mowat Syndrome 3	Short stature, Nephrotic syndrome, Stage 5 chronic kidney disease, Simplified gyral pattern, Liss...	OMIM:617729
Ataxia-Telangiectasia	Mucosal telangiectasiae, Premature graying of hair, Short stature, Elevated hepatic transaminase,...	ORPHA:100
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Weight loss, Stage 5 chronic kidney disease, Hematuria, Failure to thrive, Nephropathy, Proteinur...	ORPHA:1018
Hyperlysinemia	Hyperlysinemia, Hyperlysinuria, Hypoornithinemia, Short stature, Thin eyebrow, Abnormal circulati...	ORPHA:2203
Dihydropyrimidinase Deficiency	Reduced dihydropyrimidine dehydrogenase level, Elevated circulating dihydrouracil concentration, ...	OMIM:222748
Pyogenic Arthritis-Pyoderma Gangrenosum-Acne Syndrome	Proteinuria, Skin ulcer	ORPHA:69126
Nail-Patella Syndrome	Toenail dysplasia, High anterior hairline, Nephrotic syndrome, Stage 5 chronic kidney disease, Ab...	ORPHA:2614
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Hyperglycemia, Glucose intolerance	OMIM:307500
Interstitial Lung And Liver Disease	Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Hepatic failure, Elev...	OMIM:615486
Lujo Hemorrhagic Fever	Fulminant hepatitis, Elevated hepatic transaminase, Purpura, Ecchymosis, Muscle weakness, Oliguri...	ORPHA:319213
Ethylene Glycol Poisoning	Cyanosis, Ophthalmoplegia, Decreased urine output, Renal tubular epithelial necrosis, Hematuria, ...	ORPHA:31826
Alkaptonuria	Decreased glomerular filtration rate, Nephrolithiasis, Elevated urinary homogentisic acid	OMIM:203500
Multiple Myeloma	Generalized muscle weakness, Weight loss, Nephrotic syndrome, Acute kidney injury, Abnormality of...	ORPHA:29073
Late-Onset Isolated Acth Deficiency	Hyperuricemia, Hyperkalemia, Type I diabetes mellitus, Hypoglycemia, Hypercalcemia, Hyponatremia	ORPHA:199299
Sebocystomatosis	Nephrolithiasis	ORPHA:841
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Tubulointerstitial nephritis, Cyanosis, Nephrotic syndrome, Decreased glomerular filtration rate,...	ORPHA:488627
Lowe Oculocerebrorenal Syndrome	Aminoaciduria, Elevated maternal serum alpha-fetoprotein, Short stature, Stage 5 chronic kidney d...	OMIM:309000
Combined Oxidative Phosphorylation Deficiency 11	Renal tubular acidosis, Decreased liver function, Renal dysplasia, Renal cyst, Pachygyria, Renal ...	OMIM:614922
Systemic Sclerosis	Alopecia, Gastrointestinal telangiectasia, Telangiectasia, Nail bed telangiectasia, Acute kidney ...	ORPHA:90291
Spondyloenchondrodysplasia	Short stature, Hepatitis, Hematuria, Proteinuria, Disproportionate short-trunk short stature, Chr...	ORPHA:1855
Mucoepithelial Dysplasia, Hereditary	Alopecia, Chronic monilial nail infection, Hematuria, Nail dysplasia, Coarse hair, Sparse hair, N...	OMIM:158310
Familial Glucocorticoid Deficiency	Hypoglycemic seizures, Hyperkalemia, Ketotic hypoglycemia, Hyponatremia	ORPHA:361
Arthrogryposis Multiplex Congenita 5	Growth delay, Premature skin wrinkling, Medullary nephrocalcinosis, Intrauterine growth retardation	OMIM:618947
Gaucher Disease Type 1	Hematuria, Bruising susceptibility, Delayed puberty, Growth delay, Proteinuria	ORPHA:77259
Osteopetrosis With Renal Tubular Acidosis	Renal tubular acidosis, Short stature, Proximal renal tubular acidosis, Distal renal tubular acid...	ORPHA:2785
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Acrocyanosis, Abnormal renal physiology, Glomerular sclerosis, Increased blood urea nitrogen, Gro...	OMIM:223900
Al Amyloidosis	Weight loss, Nephrotic syndrome, Renal interstitial amyloid deposits, Abnormality of the kidney, ...	ORPHA:85443
Herpes Simplex Virus Encephalitis	Elevated circulating C-reactive protein concentration, Hyponatremia	ORPHA:1930
Nicolaides-Baraitser Syndrome	Dry hair, Sparse scalp hair, Short stature, Periorbital wrinkles, Premature skin wrinkling, Long ...	OMIM:601358
Ochoa Syndrome	Urinary incontinence, Vesicoureteral reflux, Recurrent urinary tract infections, Renal insufficie...	ORPHA:2704
Donnai-Barrow Syndrome	Widow's peak, Proteinuria	ORPHA:2143
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Proteinuria, Intrauterine growth retardation, Postnatal growth retardation, Multiple bladder dive...	ORPHA:2728
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Aplasia/Hypoplasia of the eyebrow, Short stature, Brittle hair, Exc...	ORPHA:1340
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatocellular necrosis, Exercise-induced myoglobinuria, Decreased plasma carnitine, Dicarboxylic...	OMIM:201475
Autoimmune Lymphoproliferative Syndrome, Type Iii	Alopecia, Elevated circulating alanine aminotransferase concentration, Recurrent urinary tract in...	OMIM:615559
Cutis Laxa, Autosomal Recessive, Type Iia	Cutis laxa, Brittle hair, Polymicrogyria, Failure to thrive, Redundant skin, Pachygyria, Coarse h...	OMIM:219200
Short Syndrome	Birth length less than 3rd percentile, Small for gestational age, Premature skin wrinkling, Promi...	OMIM:269880
Congenital Alpha2-Antiplasmin Deficiency	Hematuria, Bruising susceptibility	ORPHA:79
Cockayne Syndrome Type 1	Cutaneous photosensitivity, Elevated hepatic transaminase, Failure to thrive, Increased blood ure...	ORPHA:90321
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Renal insufficiency, Short stature, Proteinuria	ORPHA:1307
Combined Oxidative Phosphorylation Deficiency 14	Aminoaciduria, Growth delay, Elevated hepatic iron concentration	OMIM:614946
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Decreased liver function, Neonatal death, Myoglobinuria	OMIM:602199
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Decreased plasma carnitine, Elevated hepatic transaminase, Hyperglycinuria, Medium chain dicarbox...	OMIM:201450
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Glomerulonephritis, Chronic kidney disease	ORPHA:2172
Lipodystrophy, Familial Partial, Type 3	Hyperuricemia, Reduced subcutaneous adipose tissue, Prominent superficial veins, Hirsutism, Decre...	OMIM:604367
Congenital Factor V Deficiency	Hematuria, Spontaneous hematomas, Bruising susceptibility	ORPHA:326
Ohdo Syndrome	Sparse eyebrow, Proteinuria, Short stature	OMIM:249620
Pseudo-Torch Syndrome 3	Acute kidney injury, Proteinuria, Increased circulating ferritin concentration	OMIM:618886
Alkaptonuria	Aminoaciduria, Nephrolithiasis, Abnormality of the nail	ORPHA:56
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Short stature, Frontal upsweep of hair, Fine hair, Hypospadias, Facial w...	OMIM:305450
Postinfectious Vasculitis	Weight loss, Elevated haptoglobin level, Palpable purpura, Hematuria, Membranoproliferative glome...	ORPHA:48435
Canavan Disease	Elevated urinary N-acetylaspartic acid level, Increased circulating N-acetylaspartic acid concent...	OMIM:271900
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchloriduria, Increased urinary potassium, F...	OMIM:613090
Argininemia	Oroticaciduria, Hyperammonemia, Diaminoaciduria, Hyperargininemia, Postnatal growth retardation	OMIM:207800
Glutaric Acidemia Type 3	Ketonuria, Abnormality of circulating enzyme level, Failure to thrive, Elevated circulating gluta...	ORPHA:35706
Mirage Syndrome	Hypoglycemia, Hyperkalemia, Hyponatremia	OMIM:617053
Fabry Disease	Glomerulopathy, Abnormal circulating lipid concentration, Mucosal telangiectasiae, Short stature,...	ORPHA:324
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hypertriglyceridemia, Renal tubular acidosis, Short stature, Abnormal erythrocyte enzyme level, E...	ORPHA:264580
Zimmermann-Laband Syndrome 1	Patent ductus arteriosus, Small nail, Synophrys, Long penis, Hirsutism, Highly arched eyebrow, An...	OMIM:135500
Congenital Disorder Of Glycosylation, Type Ih	Patent ductus arteriosus, Failure to thrive, Decreased liver function, Elevated circulating creat...	OMIM:608104
Wiedemann-Rautenstrauch Syndrome	Broad eyebrow, Reduced subcutaneous adipose tissue, Long penis, Sparse eyelashes, Prematurely age...	OMIM:264090
Gaisböck Syndrome	Hypertriglyceridemia, Hyperuricemia, Hypernatriuria, Increased circulating renin level, Plethora,...	ORPHA:90041
Kanzaki Disease	Aminoaciduria, Petechiae, Increased urinary O-linked sialopeptides, Telangiectasia of the oral mu...	OMIM:609242
Renal Nutcracker Syndrome	Weight loss, Hematuria, Renal artery stenosis, Proteinuria, Microscopic hematuria	ORPHA:71273
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Decreased methionine synthase activity, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni...	OMIM:277410
Bruck Syndrome 2	Short stature, Hydroxyprolinuria	OMIM:609220
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperuricemia, Hyperlipidemia, Short stature	ORPHA:364
Transcobalamin Deficiency	Acute kidney injury, Methylmalonic aciduria	ORPHA:859
Lymphedema-Distichiasis Syndrome	Tubulointerstitial nephritis, Glomerulopathy, Renal duplication, Patent ductus arteriosus, Recurr...	ORPHA:33001
Diabetes And Deafness, Maternally Inherited	Hyperglycemia, Type II diabetes mellitus, Retinal degeneration, Pigmentary retinopathy	OMIM:520000
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Short stature, Proteinuria	ORPHA:2715
Cockayne Syndrome B	Dry hair, Cutaneous photosensitivity, Prematurely aged appearance, Small for gestational age, Red...	OMIM:133540
Familial Hypoaldosteronism	Hyperkalemia, Increased circulating renin level, Hyponatremia	ORPHA:427
Pulmonary Alveolar Microlithiasis	Abnormal circulating calcium concentration, Cyanosis, Weight loss, Fatigable weakness, Increased ...	ORPHA:60025
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hypoglycemia, Hyperkalemia, Hyponatremia	ORPHA:90790
Nephrotic Syndrome, Type 21	Stage 5 chronic kidney disease, Podocyte foot process effacement, Steroid-resistant nephrotic syn...	OMIM:618594
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyperkalemia, Increased circulating renin level, Neonatal hypoglycemia, Hyponatremia	ORPHA:90791
Rhyns Syndrome	Short stature, Total ophthalmoplegia, Nephronophthisis, Renal insufficiency, Chronic kidney disease	OMIM:602152
Relapsing Polychondritis	Glomerulopathy, Alopecia, Hepatitis, Hematuria, Purpura, Proteinuria, Erythema, Renal insufficiency	ORPHA:728
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Stage 5 chronic kidney disease, Decreased adipose tissue around neck, Pro...	OMIM:608612
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat...	OMIM:603553
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Muscle weakness, Hyperuricemia	ORPHA:371
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Stage 5 chronic kidney disease, Nephritis, Thickened glo...	OMIM:609057
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Hyperalaninemia, Hypoornithinemia, Hypoglycemia, Hyperammonemia, Hyperprolinemia, Hypernatremia, ...	OMIM:615751
Bacterial Toxic-Shock Syndrome	Recurrent urinary tract infections, Hepatitis, Hypocalcemia, Elevated circulating creatine kinase...	ORPHA:36234
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Micropenis, Hypercalcemia, Intrauterine growth retardation, Hypercalciuria, Postnata...	OMIM:614732
Osteogenesis Imperfecta, Type X	Nephrolithiasis, Rhizomelia, Short stature	OMIM:613848
Sacral Defect With Anterior Meningocele	Urinary retention, Neurogenic bladder	OMIM:600145
Autosomal Recessive Cutis Laxa Type 2A	Thick hair, Progeroid facial appearance, Pachygyria, Intrauterine growth retardation, Postnatal g...	ORPHA:357058
Morgagni-Stewart-Morel Syndrome	Obesity, Hirsutism, Hyperuricemia, Hypercholesterolemia	ORPHA:77296
Wiedemann-Rautenstrauch Syndrome	Dilatation of renal calices, Synophrys, Reduced subcutaneous adipose tissue, Progeroid facial app...	ORPHA:3455
Hyperoxaluria, Primary, Type Iii	Calcium oxalate nephrolithiasis, Hyperoxaluria	OMIM:613616
Lipodystrophy, Congenital Generalized, Type 1	Reduced subcutaneous adipose tissue, Elevated hepatic transaminase, Hirsutism, Hypertriglyceridem...	OMIM:608594
Goodpasture Syndrome	Cyanosis, Glomerular crescent formation, Weight loss, Pallor, Cylindruria, Glomerulonephritis, Er...	OMIM:233450
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra...	ORPHA:247598
Thanatophoric Dysplasia Type 1	Patent ductus arteriosus, Gray matter heterotopia, Abnormality of the kidney, Redundant skin, Let...	ORPHA:1860
Tyrosinemia, Type I	Hypermethioninemia, Hepatic failure, Enlarged kidney, Elevated hepatic transaminase, Glomerular s...	OMIM:276700
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive	Hyperglycemia, Optic disc pallor	OMIM:618970
Whipple Disease	Insulin resistance, Hyponatremia	ORPHA:3452
Combined Oxidative Phosphorylation Deficiency 55	Proximal tubulopathy, Stage 3 chronic kidney disease, Proximal muscle weakness, Short stature, Hy...	OMIM:619743
Fanconi Anemia, Complementation Group O	Short stature, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydronephrosis	OMIM:613390
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Short stature, Small for gestational age, Elevated hepatic transaminase, Delayed pubert...	ORPHA:2959
Drug Reaction With Eosinophilia And Systemic Symptoms	Tubulointerstitial nephritis, Angioedema, Weight loss, Nephrotic syndrome, Hepatitis, Elevated he...	ORPHA:139402
3-Methylglutaconic Aciduria Type 7	3-Methylglutaconic aciduria, Elevated hepatic transaminase, Renal cyst, Growth delay, Nephrocalci...	ORPHA:445038
Osteootohepatoenteric Syndrome	Grade II vesicoureteral reflux, Prolonged neonatal jaundice, Weight loss, Hypokalemia, Failure to...	OMIM:619377
Xeroderma Pigmentosum	Aminoaciduria, Alopecia, Cutaneous photosensitivity, Telangiectasia, Short stature, Failure to th...	ORPHA:910
Geroderma Osteodysplasticum	Cutis laxa, Premature skin wrinkling, Severe short stature, Progeroid facial appearance, Neonatal...	OMIM:231070
Lipodystrophy, Congenital Generalized, Type 2	Reduced subcutaneous adipose tissue, Elevated hepatic transaminase, Hirsutism, Elevated hemoglobi...	OMIM:269700
Vitamin B12-Unresponsive Methylmalonic Acidemia	Renal insufficiency, Hyperammonemia	ORPHA:27
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Short stature, Small for gestational age, Failure to thrive, Progeroid facial appearance, Slender...	ORPHA:50811
Senior-Loken Syndrome 4	Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Renal Coloboma Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Renal dysplasia, Renal hypoplasia, Renal ins...	ORPHA:1475
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia	ORPHA:83601
Congenital Disorder Of Glycosylation, Type Ia	Proximal tubulopathy, Nephrotic syndrome, Abnormal subcutaneous fat tissue distribution, Elevated...	OMIM:212065
Granulomatosis With Polyangiitis	Glomerulopathy, Weight loss, Skin ulcer, Hematuria, Purpura, Ureteral stenosis, Elevated circulat...	ORPHA:900
Nephronophthisis 1	Renal tubular atrophy, Hyposthenuria, Stage 5 chronic kidney disease, Renal corticomedullary cyst...	OMIM:256100
Moderate Hemophilia A	Hematuria, Spontaneous hematomas, Subcutaneous hemorrhage	ORPHA:169805
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Proximal muscle weakness, Exercise-induced myoglobinuria, Pelvic girdle muscle weakness, Elevated...	OMIM:607155
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Short stature, Small for gestational age, Sparse axillary hair, Sparse facial hair, Failure to th...	OMIM:608154
Diabetes Mellitus, Permanent Neonatal, 2	Hyperglycemia, Type I diabetes mellitus, Reduced C-peptide level	OMIM:618856
Dopamine Beta-Hydroxylase Deficiency	Increased blood urea nitrogen, Elevated circulating creatinine concentration, Nocturia, Elevated ...	ORPHA:230
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hyperalaninemia, Proximal muscle weakness, Stage 5 chronic kidney disease, Lacticaciduria, Failur...	OMIM:618250
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Myoglobinuria, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Alström Syndrome	Elevated hepatic transaminase, Dorsocervical fat pad, Glomerulonephritis, Frontal balding, Hirsut...	ORPHA:64
Q Fever	Weight loss, Hepatitis, Elevated hepatic transaminase, Purpura, Hematuria, Muscle weakness	ORPHA:781
Nephronophthisis 3	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Ne...	OMIM:604387
Ogden Syndrome	Patent ductus arteriosus, Sparse eyebrow, Short stature, Cutis laxa, Minimal subcutaneous fat, En...	OMIM:300855
Alg12-Cdg	Hypocholesterolemia, Recurrent hypoglycemia, Hyponatremia, Retinal detachment, Hypoalbuminemia	ORPHA:79324
Methylmalonyl-Coa Epimerase Deficiency	Ketonuria, Hyperhomocystinemia, Elevated circulating palmitoleylcarnitine concentration, Failure ...	OMIM:251120
Adrenal Hypoplasia, Congenital	Hyponatremia	OMIM:300200
Congenital Disorder Of Glycosylation, Type Iit	Urinary incontinence, Short stature, Decreased serum creatinine, Decreased HDL cholesterol concen...	OMIM:618885
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Nephrotic syndrome, Nephropathy, Proteinuria, Renal insufficiency, Focal segmenta...	OMIM:254900
Bernard-Soulier Syndrome	Petechiae, Bruising susceptibility, Macroscopic hematuria, Partially duplicated kidney, Spontaneo...	ORPHA:274
Myopathy With Lactic Acidosis, Hereditary	Ophthalmoparesis, Elevated circulating creatine kinase concentration, Muscle weakness, Distal mus...	OMIM:255125
Multiple Osteochondromas	Short stature, Urinary retention	ORPHA:321
Bartter Syndrome Type 4	Impaired renal concentrating ability, Acute kidney injury, Stage 5 chronic kidney disease, Small ...	ORPHA:89938
Martin-Probst Syndrome	Telangiectasia, Short stature, Proteinuria, Renal insufficiency, Hypoplastic nipples, Micropenis,...	OMIM:300519
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Short stature, Renal dysplasia, Hypoplasia of penis, Telangiectasia of the skin, Renal hypoplasia...	ORPHA:85321
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Impaired renal concentrating ability, Hypokalemia, Renal salt wasting, Hypernatriuria, Hyperchlor...	OMIM:602522
Diabetes Mellitus, Permanent Neonatal, 3	Glycosuria, Muscle weakness, Small for gestational age, Ketonuria	OMIM:618857
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glomerular filtration rate...	OMIM:618061
Acquired Generalized Lipodystrophy	Abnormal circulating lipid concentration, Progeroid facial appearance, Proteinuria, Hypertriglyce...	ORPHA:79086
Type 1 Diabetes Mellitus	Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum	OMIM:222100
Maternal Uniparental Disomy Of Chromosome 2	Renal dysplasia, Elevated amniotic fluid alpha-fetoprotein, Hypospadias, Renal insufficiency, Int...	ORPHA:96179
Galloway-Mowat Syndrome 1	Small nail, Short stature, Nephrotic syndrome, Small for gestational age, Diffuse mesangial scler...	OMIM:251300
46,Xy Sex Reversal 4	Renal dysplasia, Increased blood urea nitrogen, Ureteropelvic junction obstruction, Elevated circ...	OMIM:154230
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic failure, Short stature, Nephronophthisis, Obesity, Chronic kidney disease	OMIM:615630
Cockayne Syndrome A	Dry hair, Cutaneous photosensitivity, Short stature, Prematurely aged appearance, Reduced subcuta...	OMIM:216400
Werner Syndrome	Lack of skin elasticity, Sparse scalp hair, Pili torti, Premature graying of hair, Short stature,...	ORPHA:902
Sickle Cell Disease	Jaundice, Renal insufficiency, Hematuria	OMIM:603903
Boutonneuse Fever	Renal insufficiency, Elevated hepatic transaminase, Petechiae	ORPHA:83313
Robinow Syndrome, Autosomal Recessive 1	Renal duplication, Small nail, Short stature, Long eyelashes, Nail dysplasia, Nephrocalcinosis, N...	OMIM:268310
Amme Complex	Hematuria, Intrauterine growth retardation	OMIM:300194
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Abnormality of the kidney, Nephrolithiasis	ORPHA:521445
Chronic Graft Versus Host Disease	Alopecia, Skin vesicle, Weight loss, Phimosis, Skin ulcer, Hematuria, Elevated hepatic transamina...	ORPHA:99921
Focal Facial Dermal Dysplasia 3, Setleis Type	Absent lower eyelashes, Aged leonine appearance, Distichiasis, Sparse hair, Low anterior hairline	OMIM:227260
Infant Botulism	Hyponatremia	ORPHA:178478
Sarcoidosis	Tubulointerstitial nephritis, Alopecia, Hepatic failure, Proximal muscle weakness, Weight loss, H...	ORPHA:797
Severe Hemophilia A	Poor wound healing, Macroscopic hematuria, Bruising susceptibility	ORPHA:169802
Meningococcal Meningitis	Renal insufficiency, Purpura, Elevated circulating C-reactive protein concentration, Petechiae	ORPHA:33475
Burkitt Lymphoma	Increased circulating lactate dehydrogenase concentration, Hyperuricemia	ORPHA:543
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Elevated circulating creatine kinase concentration, Distal lower limb muscle weakness, Proximal m...	ORPHA:206549
Pheochromocytoma--Islet Cell Tumor Syndrome	Elevated urinary norepinephrine, Proteinuria, Hypercalcemia	OMIM:171420
Beckwith-Wiedemann Syndrome	Nephroblastoma, Vesicoureteral reflux, Congenital megaureter, Enlarged kidney, Large for gestatio...	ORPHA:116
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Renal artery stenosis, Proteinuria	OMIM:209010
Renal Agenesis	Ureteral agenesis, Renal insufficiency, Bilateral renal agenesis, Renal agenesis, Unilateral rena...	ORPHA:411709
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Short stature, Jaundice, Nephritis, Renal cyst, Proteinuria, Renal insufficiency, Conjugated hype...	OMIM:208500
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Nephroblastoma, Nephropathy, Hypospadias, Renal insufficiency, Obesity	OMIM:194072
Diffuse Cutaneous Systemic Sclerosis	Skin ulcer, Muscle weakness, Oliguria, Telangiectasia of the skin, Renal insufficiency	ORPHA:220393
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Short stature, Hepatitis, Abnormal renal tubule morphology, Portal hypertens...	ORPHA:440713
Senior-Boichis Syndrome	Increased total bilirubin, Abnormal renal insterstitial morphology, Stage 5 chronic kidney diseas...	ORPHA:84081
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Cystathioninemia, Lower limb muscle weakness, Hyperhomocystinemia, Hypomethioninemia, Abnormal ci...	ORPHA:395
Rift Valley Fever	Hepatitis, Jaundice, Elevated hepatic transaminase, Hematuria, Muscle weakness	ORPHA:319251
Structural Heart Defects And Renal Anomalies Syndrome	Renal cyst, Elevated circulating creatinine concentration, Renal insufficiency, Cyanosis	OMIM:617478
Bardet-Biedl Syndrome 9	Renal insufficiency, Obesity, Truncal obesity	OMIM:615986
Isovaleric Acidemia	Hyperglycinuria	OMIM:243500
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Tubulointerstitial nephritis, Hyperglycinemia, Methylmalonic acidemia, Stage 5 chronic kidney dis...	OMIM:251000
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Elevated circulating acylcarnitine concentration, Ketonuria, Elevated hepatic transaminase, Eleva...	OMIM:616878
Bor Syndrome	Vesicoureteral reflux, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Facial palsy, Uret...	ORPHA:107
Cranioectodermal Dysplasia 3	Ectodermal dysplasia, Rhizomelia, Short stature, Cutis laxa, Stage 5 chronic kidney disease, Shor...	OMIM:614099
Pituitary Apoplexy	Hypoglycemia, Hyponatremia	ORPHA:95613
Myoglobinuria, Recurrent	Exercise-induced myoglobinuria, Recurrent myoglobinuria	OMIM:550500
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Premature graying of hair, Generalized hypopigmentation of hair, Short stature...	ORPHA:3322
Nephronophthisis 18	Renal tubular atrophy, Tubulointerstitial nephritis, Stage 5 chronic kidney disease, Thickened gl...	OMIM:615862
Melas	Proximal tubulopathy, Short stature, Progressive external ophthalmoplegia, Failure to thrive, Nep...	ORPHA:550
Holoprosencephaly	Optic atrophy, Diabetes mellitus, Hypoglycemia, Iris coloboma, Cyclopia, Chorioretinal coloboma, ...	ORPHA:2162
Juvenile Paget Disease	Hyperuricemia, Short stature	ORPHA:2801
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Hyperglycemia, Hyperinsulinemia, Hyperlipidemia	ORPHA:329249
Familial Renal Glucosuria	Recurrent urinary tract infections, Glycosuria, Moderate postnatal growth retardation, Nephropath...	ORPHA:69076
Hepatocellular Carcinoma	Type II diabetes mellitus, Hyperbilirubinemia, Hypokalemia, Hypoglycemia, Hypercalcemia, Hyponatr...	ORPHA:88673
Tubulointerstitial Nephritis And Uveitis Syndrome	Tubulointerstitial nephritis, Aminoaciduria, Renal Fanconi syndrome, Weight loss, Beta 2-microglo...	ORPHA:91500
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Palmoplantar cutis laxa, Bladder diverticulum, Bruising susceptibility, Muscle weakness, Poor wou...	OMIM:225400
Renal Hypodysplasia/Aplasia 1	Proteinuria, Bilateral renal agenesis, Renal dysplasia	OMIM:191830
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ketonuria, Elevated hepatic transaminase, Failure to thrive, Hyperammonemia, Growth delay, Acute ...	OMIM:615453
Nephronophthisis 9	Nephronophthisis, Renal cortical microcysts, Stage 5 chronic kidney disease	OMIM:613824
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction	Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:609812
Paget Disease Of Bone 2, Early-Onset	Elevated circulating alkaline phosphatase concentration, Hypercalcemia, Hydroxyprolinuria	OMIM:602080
Pparg-Related Familial Partial Lipodystrophy	Hypertriglyceridemia, Hyperuricemia, Generalized hirsutism, Prominent veins on trunk	ORPHA:79083
Refsum Disease	Renal insufficiency, Dry skin, Nail dysplasia	ORPHA:773
Cocaine Intoxication	Tubulointerstitial nephritis, Acute kidney injury, Hematuria, Elevated circulating creatine kinas...	ORPHA:90068
Williams Syndrome	Abnormal circulating lipid concentration, Abnormality of the bladder, Elevated circulating creati...	ORPHA:904
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Patent ductus arteriosus, Thick hair, Nephrotic syndrome, Enlarged kidney, Long eyelashes, Hypoal...	ORPHA:505248
Congenital Factor Ii Deficiency	Microscopic hematuria	ORPHA:325
Autoerythrocyte Sensitization Syndrome	Hematuria, Bruising susceptibility, Ecchymosis	ORPHA:324636
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Ketonuria, Acute hyperammonemia, 3-hydroxyisovaleric aciduria, Failure to thrive, Elevated urinar...	OMIM:210200
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Elevated circulating creatine kinase concentration, Hyperammonemia, Optic neuropat...	OMIM:610505
Pearson Syndrome	Cutaneous photosensitivity, Hepatic failure, Hyperalaninemia, Ophthalmoplegia, Glycosuria, Small ...	ORPHA:699
Hawkinsinuria	4-hydroxyphenylacetic aciduria, Hypertyrosinemia, Failure to thrive, Hawkinsinuria, 4-Hydroxyphen...	OMIM:140350
Ablepharon-Macrostomia Syndrome	Absent eyelashes, Premature skin wrinkling, Hypoplastic fingernail, Redundant skin, Dry skin, Abs...	OMIM:200110
Gaucher Disease Type 3	Ophthalmoplegia, Hematuria, Delayed puberty, Growth delay, Proteinuria	ORPHA:77261
Cataract-Intellectual Disability-Hypogonadism Syndrome	Low posterior hairline, Prematurely aged appearance, Short stature, Abnormal toenail morphology	ORPHA:1387
Calciphylaxis	Stage 5 chronic kidney disease, Hyperphosphatemia, Skin ulcer, Cutis marmorata	ORPHA:280062
Insulin-Resistance Syndrome Type B	Alopecia, Abnormal circulating lipid concentration, Decreased body weight, Weight loss, Glycosuri...	ORPHA:2298
Liver Disease, Severe Congenital	Aminoaciduria, Elevated hepatic transaminase, Elevated circulating alpha-fetoprotein concentratio...	OMIM:619991
Shigellosis	Hypoglycemia, Abnormal blood ion concentration, Hyponatremia	ORPHA:810
Lymphatic Filariasis	Nephrotic syndrome, Abnormality of the kidney, Hematuria, Glomerulonephritis, Proteinuria, Urethr...	ORPHA:2035
Rhizomelic Limb Shortening With Dysmorphic Features	Obesity, Rhizomelia, Stage 1 chronic kidney disease	OMIM:618821
Barber-Say Syndrome	Sparse eyebrow, Dermal translucency, Absent nipple, Premature skin wrinkling, Redundant skin, Dry...	OMIM:209885
Imerslund-Gräsbeck Syndrome	Failure to thrive, Proteinuria, Weight loss, Pallor	ORPHA:35858
Acquired Von Willebrand Syndrome	Hematuria, Bruising susceptibility, Subcutaneous hemorrhage	ORPHA:99147
Stuve-Wiedemann Syndrome 1	Premature skin wrinkling, Sparse hair, Short stature	OMIM:601559
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyperkalemia, Recurrent hypoglycemia, Hyponatremia	ORPHA:293978
Cornelia De Lange Syndrome 1	Vesicoureteral reflux, Short stature, Synophrys, Long eyelashes, Cutis marmorata, Renal cyst, Red...	OMIM:122470
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Elevated hepatic transamin...	ORPHA:261265
Pseudoxanthoma Elasticum	Lack of skin elasticity, Striae distensae, Bruising susceptibility, Telangiectasia of the skin, N...	ORPHA:758
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Renal steatosis, Cyanosis, Hepatic failure, Elevated circulating alanine aminotransferase concent...	OMIM:261680
Mandibuloacral Dysplasia Progeroid Syndrome	Sparse eyebrow, Hypertriglyceridemia, Short stature, Elevated hepatic transaminase, Progeroid fac...	OMIM:619127
Hermansky-Pudlak Syndrome 1	Albinism, Bruising susceptibility, Ecchymosis, Hypopigmentation of hair, Renal insufficiency	OMIM:203300
Pyruvate Carboxylase Deficiency	Hyperlysinemia, Hyperalaninemia, Hypoglutaminemia, Hypertaurinemia, Hypoglycemia, Neonatal hyperb...	ORPHA:3008
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hemolytic-uremic syndrome, Methylmalonic aciduria, Glomerulopathy, Methylmalonic acidemia, Ketonu...	ORPHA:79282
Joubert Syndrome 3	Nephronophthisis, Frontal polymicrogyria, Highly arched eyebrow, Stage 5 chronic kidney disease	OMIM:608629
Congenital Factor X Deficiency	Hematuria, Spontaneous hematomas, Bruising susceptibility	ORPHA:328
Kleefstra Syndrome Due To 9Q34 Microdeletion	Vesicoureteral reflux, Synophrys, Hypoplasia of penis, Failure to thrive, Growth delay, Renal ins...	ORPHA:96147
Sepsis In Premature Infants	Cyanosis, Decreased body weight, Petechiae, Small for gestational age, Jaundice, Purpura, Pallor,...	ORPHA:90051
Congenital Disorder Of Glycosylation, Type Iig	Hemolytic-uremic syndrome, Rhizomelia, Short stature, Hypospadias, Renal insufficiency, Failure t...	OMIM:611209
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Stage 5 chronic kidney disease, Proteinuria	OMIM:219900
Hypophosphatemic Rickets	Renal phosphate wasting, Hyperphosphaturia, Hypophosphatemia, Elevated circulating alkaline phosp...	ORPHA:437
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Neonatal death, Enlarged kidney, Polycystic kidney dysplasi...	OMIM:263200
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency, Highly arched eyebrow, Abnormality of neuronal migration	ORPHA:2318
Lesch-Nyhan Phenotype With Normal Hgprt	Hyperuricemia	OMIM:308950
Distal Monosomy 10Q	Patent ductus arteriosus, Vesicoureteral reflux, Hypoplastic toenails, Short stature, Acute kidne...	ORPHA:96148
Legius Syndrome	Nephroblastoma, Nephrolithiasis, Short stature, Male urethral meatus stenosis	ORPHA:137605
Schinzel-Giedion Syndrome	Nephroblastoma, Failure to thrive in infancy, Generalized hypertrichosis, Renal cyst, Abnormality...	ORPHA:798
Familial Dysautonomia	Optic atrophy, Hyponatremia	ORPHA:1764
Buschke-Ollendorff Syndrome	Renal insufficiency, Short stature	ORPHA:1306
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ...	ORPHA:168558
Orofaciodigital Syndrome Type 1	Alopecia, Multicystic kidney dysplasia, Brittle hair, Elevated hepatic transaminase, Proteinuria,...	ORPHA:2750
Sheehan Syndrome	Hypoglycemia, Hyponatremia	ORPHA:91355
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Cutis Laxa, Autosomal Recessive, Type Iib	Lack of skin elasticity, Bruising susceptibility, Prominent superficial veins, Failure to thrive,...	OMIM:612940
Kleefstra Syndrome	Vesicoureteral reflux, Short stature, Synophrys, Hypoplasia of penis, Supernumerary nipple, Renal...	ORPHA:261494
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Abnormal circulating cholesterol concentration, Hyperkalemia, Increased circulating renin level, ...	ORPHA:289548
Hypoplasminogenemia	Nephrolithiasis, Decreased level of plasminogen	ORPHA:722
De Barsy Syndrome	Patent ductus arteriosus, Short stature, Cutis laxa, Dermal translucency, Failure to thrive, Prog...	ORPHA:2962
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency, Highly arched eyebrow, Polymicrogyria	ORPHA:220497
Joubert Syndrome With Hepatic Defect	Multicystic kidney dysplasia, Abnormality of neuronal migration, Elevated hepatic transaminase, C...	ORPHA:1454
Nephronophthisis 4	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Gr...	OMIM:606966
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Rhizomelic arm shortening, Rhizomelic leg shortening, Renal cortical cysts, Short stature, Renal ...	ORPHA:397715
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Renal insufficiency	OMIM:173900
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Acute kidney injury, Dysuria, Renal tubular epithelial necrosis, Moderate albuminuria, Hematuria,...	ORPHA:95455
Cranioectodermal Dysplasia 4	Stage 5 chronic kidney disease, Cutis laxa, Short stature, Onychogryposis	OMIM:614378
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hyperinsulinemia, Diabetic ketoacidosis, Hypoglycemia, Postprandial hyperglycemia, Insulin-resist...	OMIM:262190
Variant Abeta2M Amyloidosis	Renal amyloidosis, Chronic kidney disease	ORPHA:314652
Systemic Capillary Leak Syndrome	Abnormal renal tubule morphology, Renal insufficiency, Oliguria, Weight loss	ORPHA:188
Adenohypophysitis	Hyponatremia	ORPHA:95512
Ablepharon Macrostomia Syndrome	Absent eyelashes, Hypoplasia of penis, Fine hair, Redundant skin, Dry skin, Absent eyebrow, Abnor...	ORPHA:920
Cutis Laxa, Autosomal Recessive, Type Iiib	Cutis laxa, Dermal translucency, Fine hair, Prominent superficial veins, Sparse hair, Intrauterin...	OMIM:614438
Senior-Loken Syndrome 9	Tubulointerstitial nephritis, Obesity, Nephronophthisis, Stage 5 chronic kidney disease	OMIM:616629
Short Syndrome	Alopecia, Weight loss, Severe short stature, Sparse hair, Excessive wrinkled skin	ORPHA:3163
Caudal Regression Syndrome	Vesicoureteral reflux, Renal agenesis, Ectopic kidney, Abnormality of the ureter, Renal insuffici...	ORPHA:3027
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pilomatrixoma, Vesicoureteral reflux, Patent ductus arteriosus, Short stature, Recurrent urinary ...	ORPHA:353281
Beckwith-Wiedemann Syndrome	Nephroblastoma, Vesicoureteral reflux, Renal cortical cysts, Enlarged kidney, Nephrocalcinosis, N...	OMIM:130650
Sifrim-Hitz-Weiss Syndrome	Patent ductus arteriosus, Vesicoureteral reflux, Short stature, Renal insufficiency, Micropenis	OMIM:617159
Osteogenesis Imperfecta	Rhizomelia, Short stature, Cutis laxa, Small for gestational age, Bruising susceptibility, Growth...	ORPHA:666
Atypical Werner Syndrome	Decreased body weight, Premature graying of hair, Skin ulcer, White forelock, Progeroid facial ap...	ORPHA:79474
Chédiak-Higashi Syndrome	Abnormality of retinal pigmentation, Increased circulating ferritin concentration, Hypoproteinemi...	ORPHA:167
Panhypophysitis	Hyponatremia	ORPHA:95513
Optic Nerve Hypoplasia, Bilateral	Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia	OMIM:165550
Werner Syndrome	Elevated circulating alanine aminotransferase concentration, Short stature, Subcutaneous calcific...	OMIM:277700
Liddle Syndrome 1	Decreased circulating renin level, Hypokalemia, Renal insufficiency	OMIM:177200
Scalp-Ear-Nipple Syndrome	Cutaneous photosensitivity, Short stature, Sparse axillary hair, Pyelonephritis, Unilateral renal...	OMIM:181270
Acute Bilirubin Encephalopathy	Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia	ORPHA:529799
Chronic Bilirubin Encephalopathy	Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia	ORPHA:529808
Methylmalonic Aciduria, Cblb Type	Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Decreased methylmalonyl-CoA mutase activity, ...	OMIM:251110
X-Linked Intellectual Disability, Armfield Type	Patent ductus arteriosus, Aminoaciduria, Short stature, Galactosuria, Organic aciduria	ORPHA:85276
Gitelman Syndrome	Tubulointerstitial nephritis, Urinary incontinence, Renal tubular acidosis, Hypokalemia, Hypocalc...	ORPHA:358
Atresia Of Urethra	Vesicoureteral reflux, Renal dysplasia, Bladder fistula, Hydroureter, Recurrent urinary tract inf...	ORPHA:105
Toxic Epidermal Necrolysis	Weight loss, Dysuria, Skin ulcer, Elevated hepatic transaminase, Erythema, Renal insufficiency, A...	ORPHA:537
Bardet-Biedl Syndrome 20	Elevated hepatic transaminase, Hypercholesterolemia, Proteinuria, Obesity, Micropenis	OMIM:619471
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Vesicoureteral reflux, Renal dysplasia, Polycystic kidney dysplasia, Hypocalcemia, Unilateral ren...	ORPHA:2237
Japanese Encephalitis	Hyponatremia	ORPHA:79139
Amelogenesis Imperfecta, Type Ig	Impaired renal concentrating ability, Nephrocalcinosis, Polyuria, Enuresis, Renal insufficiency	OMIM:204690
Malignant Hyperthermia Of Anesthesia	Hyperphosphatemia, Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, Ac...	ORPHA:423
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Renal corticomedullary cysts, Renal insufficiency	OMIM:219730
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Elevated circulating alanine aminotransferase concentration, Elevated circulating uracil concentr...	OMIM:311250
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Hypernatremia	OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Hypernatremia	OMIM:304800
Pheochromocytoma	Elevated urinary norepinephrine, Proteinuria, Hypercalcemia, Renal artery stenosis	OMIM:171300
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pilomatrixoma, Vesicoureteral reflux, Patent ductus arteriosus, Short stature, Recurrent urinary ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pilomatrixoma, Vesicoureteral reflux, Patent ductus arteriosus, Short stature, Recurrent urinary ...	ORPHA:353277
Senior-Loken Syndrome 8	Stage 5 chronic kidney disease, Pallor, Glomerular subepithelial immune-complex deposits, Global ...	OMIM:616307
Noonan Syndrome With Multiple Lentigines	Short stature, Hypospadias, Growth delay, Abnormal localization of kidney, Intrauterine growth re...	ORPHA:500
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction	Alpha-aminoadipic aciduria, Elevated urine acetoacetic acid level, 3-Methylglutaconic aciduria	OMIM:620089
Lymphangioleiomyomatosis	Renal angiomyolipoma, Hematuria, Renal neoplasm, Abnormal urinary color, Multiple renal cysts, Un...	ORPHA:538
Methylmalonic Aciduria, Cbla Type	Hyperglycinemia, Methylmalonic acidemia, Ketonuria, Decreased methylmalonyl-CoA mutase activity, ...	OMIM:251100
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Vesicoureteral reflux, Bifid ureter, Renal dysplasia, Renal agenesis, Unilateral renal agenesis, ...	OMIM:617641
Cystic Fibrosis	Elevated hepatic transaminase, Decreased body mass index, Nephrolithiasis, Failure to thrive	ORPHA:586
Lead Poisoning	Tubulointerstitial nephritis, Small for gestational age, Delayed puberty, Increased LDL cholester...	ORPHA:330015
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Patent ductus arteriosus, Vesicoureteral reflux, High anterior hairline, Short stature, Decreased...	ORPHA:438213
Stevens-Johnson Syndrome	Weight loss, Dysuria, Elevated hepatic transaminase, Erythema, Renal insufficiency, Acute hepatic...	ORPHA:36426
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse eyebrow, Sparse scalp hair, Short stature, Cutis laxa, Progeroid facial appearance, Growth...	ORPHA:75496
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Stage 5 chronic kidney disease, Short stature	OMIM:613819
Joubert Syndrome 7	Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease	OMIM:611560
Feingold Syndrome Type 1	Patent ductus arteriosus, Vesicoureteral reflux, Short stature, Renal dysplasia, Abnormality of t...	ORPHA:391641
Autism, Susceptibility To, 3	Ketonuria	OMIM:608049
Glutaric Acidemia I	Ketonuria, Failure to thrive, Elevated circulating glutaric acid concentration, Glutaric aciduria...	OMIM:231670
Congenital Disorder Of Glycosylation, Type Iiw	Elevated circulating alanine aminotransferase concentration, Moderate albuminuria, Elevated hepat...	OMIM:619525
Angioosteohypertrophic Syndrome	Skin ulcer, Hematuria, Cutis marmorata, Telangiectasia of the skin	ORPHA:2346
Familial Mediterranean Fever	Nephrotic syndrome, Nephropathy, Erythema, Nephrocalcinosis, Proteinuria, Acute hepatic failure	ORPHA:342
Severe Acute Respiratory Syndrome	Acute kidney injury	ORPHA:140896
Coach Syndrome 1	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Elevated hepatic transamina...	OMIM:216360
Chromosome 17Q12 Deletion Syndrome	Sparse eyebrow, Hypoplasia of the bladder, Multicystic kidney dysplasia, Small nail, Short statur...	OMIM:614527
Nephronophthisis 19	Stage 5 chronic kidney disease, Hyperechogenic kidneys, Renal interstitial fibrosis, Nephronophth...	OMIM:616217
Wagro Syndrome	Nephroblastoma, Proteinuria, Obesity	OMIM:612469
Hardikar Syndrome	Patent ductus arteriosus, Vesicoureteral reflux, Hepatic failure, Hypoplasia of the bladder, Decr...	OMIM:301068
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyperkalemia, Hyponatremia	OMIM:201810
Infection-Related Hemolytic Uremic Syndrome	Diabetes mellitus, Hypocalcemia, Hyperkalemia, Hyponatremia	ORPHA:544482
Avian Influenza	Acute kidney injury, Hepatitis, Elevated hepatic transaminase, Elevated circulating creatine kina...	ORPHA:454836
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Proteinuria	OMIM:222448
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Abnormal circulating selenium concentration, IgA deposition in the glomerulus, Urinary bladder sp...	ORPHA:79408
Enamel-Renal Syndrome	Impaired renal concentrating ability, Nephrocalcinosis, Hypophosphaturia, Nephropathy, Hypocalciu...	ORPHA:1031
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Orofaciodigital Syndrome I	Alopecia, Dry hair, Gray matter heterotopia, Short stature, Abnormal cortical gyration, Polycysti...	OMIM:311200
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Glycosuria, Short stature, Renal Fanconi syndrome, Stage 5 chronic kidney disease	OMIM:268315
Scleromyxedema	Proximal muscle weakness, Abnormality of the kidney, Elevated circulating creatine kinase concent...	ORPHA:167635
Complement Factor I Deficiency	Glomerulonephritis, Renal insufficiency, Pyelonephritis, Recurrent urinary tract infections	OMIM:610984
Yellow Fever	Elevated circulating alanine aminotransferase concentration, Anuria, Acute kidney injury, Jaundic...	ORPHA:99829
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Decreased LDL cholesterol concentration, Small for gestational age, Elevated hepatic transaminase...	ORPHA:404454
Biliary, Renal, Neurologic, And Skeletal Syndrome	Hypercholesterolemia, Conjugated hyperbilirubinemia, Elevated circulating alanine aminotransferas...	OMIM:619534
Monocarboxylate Transporter 1 Deficiency	Ketonuria	OMIM:616095
Mandibuloacral Dysplasia With Type A Lipodystrophy	Lack of skin elasticity, Alopecia, Abnormal eyebrow morphology, Short stature, Absent eyelashes, ...	ORPHA:90153
Nephronophthisis 11	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base...	OMIM:613550
Keppen-Lubinsky Syndrome	Failure to thrive, Progeroid facial appearance, Premature skin wrinkling, Postnatal growth retard...	ORPHA:435628
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Gaucher Disease	Short stature, Hepatitis, Hematuria, Delayed puberty, Elevated circulating C-reactive protein con...	ORPHA:355
Hutchinson-Gilford Progeria Syndrome	Cyanosis, Dystrophic toenail, Lack of skin elasticity, Weight loss, Prominent superficial blood v...	ORPHA:740
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Hyperkalemia, Hyponatremia	ORPHA:275761
Cranioectodermal Dysplasia 1	Tubulointerstitial nephritis, Hepatic failure, Ectodermal dysplasia, Rhizomelia, Stage 1 chronic ...	OMIM:218330
Aymé-Gripp Syndrome	Patent ductus arteriosus, Sparse scalp hair, Short stature, Long eyelashes, Proteinuria, Breast h...	ORPHA:1272
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Short stature, Calcinosis, Delayed puberty, Progeroid facial appearance, Hyperlipidemia...	ORPHA:90154
Mercury Poisoning	Acute kidney injury, Hypokalemia, Generalized muscle weakness	ORPHA:330021
Hand-Foot-Genital Syndrome	Vesicoureteral reflux, Small nail, Pyelonephritis, Hypospadias, Ureteropelvic junction obstructio...	OMIM:140000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Decreased body weight, Synophrys, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, He...	OMIM:619475
Renal-Hepatic-Pancreatic Dysplasia 1	Patent ductus arteriosus, Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polyc...	OMIM:208540
Joubert Syndrome 9	Stage 5 chronic kidney disease	OMIM:612285
Scleroderma	Alopecia, Gastrointestinal telangiectasia, Acute kidney injury, Facial palsy, Elevated circulatin...	ORPHA:801
Scrub Typhus	Renal insufficiency	ORPHA:83317
Multiple Endocrine Neoplasia Type 1	Weight loss, Nephrolithiasis, Hypercalcemia, Hypercalciuria	ORPHA:652
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	High anterior hairline, Horizontal eyebrow, Curly hair, Sparse lateral eyebrow, Short stature, Re...	OMIM:619950
Congenital Anomalies Of Kidney And Urinary Tract 1	Stage 5 chronic kidney disease, Vesicoureteral reflux, Ureteropelvic junction obstruction	OMIM:610805
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Mody	Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Glycosuria, Neonatal hypoglycemia, H...	ORPHA:552
Cranioectodermal Dysplasia 2	Patent ductus arteriosus, Sparse eyebrow, Ectodermal dysplasia, Rhizomelia, Short stature, Cutis ...	OMIM:613610
Galloway-Mowat Syndrome 9	Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, ...	OMIM:619603
Senior-Loken Syndrome 3	Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Nephronophthisis, Enuresis	OMIM:606995
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Decreased circulating free fatty acid level, Increased C-peptide level, Large for gestational age...	ORPHA:79644
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia	OMIM:615508
Crimean-Congo Hemorrhagic Fever	Hepatic failure, Jaundice, Hematuria, Purpura, Elevated circulating creatine kinase concentration...	ORPHA:99827
Down Syndrome	Renal hypoplasia/aplasia, Prematurely aged appearance, Obesity, Sparse hair	ORPHA:870
Bardet-Biedl Syndrome 17	Stage 5 chronic kidney disease, Renal cyst, Polyuria, Obesity, Micropenis	OMIM:615994
Coloboma, Ocular, Autosomal Dominant	Remnants of the hyaloid vascular system, Optic disc coloboma, Optic nerve aplasia, Chorioretinal ...	OMIM:120200
Waldenström Macroglobulinemia	Purpura, Cutis marmorata, Pallor, Renal insufficiency, Urticaria	ORPHA:33226
Campomelia, Cumming Type	Prematurely aged appearance, Multicystic kidney dysplasia, Multiple renal cysts	ORPHA:1318
Marburg Hemorrhagic Fever	Petechiae, Jaundice, Hypokalemia, Elevated hepatic transaminase, Bruising susceptibility, Elevate...	ORPHA:99826
Isolated Permanent Neonatal Diabetes Mellitus	Weight loss, Ketonuria, Glycosuria, Moderate albuminuria, Abnormality of the upper urinary tract,...	ORPHA:99885
Interstitial Cystitis	Pollakisuria, Urinary urgency, Nocturia, Abnormality of the bladder, Urinary bladder inflammation...	ORPHA:37202
Histidinemia	Histidinuria, Hyperhistidinemia	ORPHA:2157
Sickle Cell Anemia	Increased circulating lactate dehydrogenase concentration, Elevated circulating creatinine concen...	ORPHA:232
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Elevated urinary 3-hydroxybutyric acid, Ketonuria	OMIM:245050
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Hypokalemia, Hyponatremia	OMIM:618426
Webb-Dattani Syndrome	Hypernatremia	OMIM:615926
Eisenmenger Syndrome	Cyanosis, Patent ductus arteriosus, Hyperuricemia, Abnormal B-type natriuretic peptide concentrat...	ORPHA:97214
Kawasaki Disease	Palmoplantar erythema, Hepatitis, Jaundice, Abnormality of nail color, Sterile pyuria, Proteinuria	ORPHA:2331
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hyperglycemia, Hyperkalemia, Hyperlipidemia, Hyponatremia	ORPHA:293987
Autosomal Recessive Polycystic Kidney Disease	Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polycystic kidney dyspl...	ORPHA:731
Duplication Of Urethra	Vesicoureteral reflux, Urinary incontinence, Penile hypospadias, Anuria, Recurrent urinary tract ...	ORPHA:237
Immunodeficiency 58	Cutaneous photosensitivity, Short stature, Dysuria, Psoriasiform lesion, Failure to thrive, Scali...	OMIM:618131
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Sparse scalp hair, Rhizomelia, Short stature, Renal dysplasia, Stage 5 chronic kidney disease, Ac...	OMIM:266920
Hermansky-Pudlak Syndrome	Weight loss, Long eyelashes, Bruising susceptibility, Hypopigmentation of hair, Renal insufficiency	ORPHA:79430
Joubert Syndrome 2	Nephronophthisis, Failure to thrive, Renal insufficiency, Renal cyst	OMIM:608091
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Vesicoureteral reflux, Short stature, Renal agenesis, Ectopic kidney, Horseshoe kidney, Renal ins...	ORPHA:140952
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Renal hypoplasia, Ketonuria	OMIM:619053
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Abnormal circulating enzyme concentration or activity, Chronic kidney disease	ORPHA:25
Ketamine-Induced Biliary Dilatation	Dysuria	ORPHA:293807
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Progeroid facial appearance, Sparse hair, Patchy alopecia, Short stature	OMIM:617763
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Distal upper limb muscle weakness, Neck flexor weakness, Pollakisuria, Lower limb muscle weakness...	ORPHA:268
Acute Interstitial Pneumonia	Cyanosis, Elevated circulating creatinine concentration, Elevated circulating C-reactive protein ...	ORPHA:79126
Citrullinemia, Classic	Episodic ammonia intoxication, Oroticaciduria, Failure to thrive, Hyperammonemia, Hypoargininemia...	OMIM:215700
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Renal insufficiency, Short stature	OMIM:226980
Histidinemia	Histidinuria, Hyperhistidinemia	OMIM:235800
Wrinkly Skin Syndrome	Palmoplantar cutis laxa, Short stature, Short nail, Failure to thrive, Progeroid facial appearanc...	OMIM:278250
Secondary Syringomyelia	Dysuria, Fatigable weakness, Bulbar palsy	ORPHA:99857
Pierson Syndrome	Nephrotic syndrome, Stage 5 chronic kidney disease, Hypoproteinemia, Diffuse mesangial sclerosis,...	OMIM:609049
Primary Sclerosing Cholangitis	Spider hemangioma, Renal insufficiency, Elevated alkaline phosphatase of hepatic origin, Weight l...	ORPHA:171
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Moderate albuminuria, Obesity, Growth delay, Proportionate short stature, Hydronephrosis	OMIM:619269
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Hyperphosphatemia, Acute kidney injury, Hyperkalemia, Elevated circulating creat...	ORPHA:466650
Ehlers-Danlos Syndrome, Classic-Like, 2	Thin eyebrow, Bruising susceptibility, Prominent superficial veins, Redundant skin, Low posterior...	OMIM:618000
Exstrophy-Epispadias Complex	Vesicoureteral reflux, Urinary incontinence, Renal duplication, Bladder exstrophy, Absent penis, ...	ORPHA:322
Williams-Beuren Syndrome	Medial flaring of the eyebrow, Premature graying of hair, Vesicoureteral reflux, Small nail, Uret...	OMIM:194050
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hypochloremia, Hyperkalemia, Neonatal hypoglycemia, Hyponatremia	ORPHA:90794
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse body hair, Ectodermal dysplasia, Sparse scalp hair, Sparse lateral eyebrow, Absent eyelash...	OMIM:614941
Arteriosclerosis, Severe Juvenile	Delayed puberty, Short stature, Chronic kidney disease	OMIM:208060
Trichothiodystrophy	Cutaneous photosensitivity, Aplasia/Hypoplasia of the nails, Tiger tail banding, Sparse scalp hai...	ORPHA:33364
Autosomal Recessive Spastic Paraplegia Type 20	Short stature, Dysuria, Growth delay, Upper limb muscle weakness, Hydronephrosis	ORPHA:101000
Erdheim-Chester Disease	Dysuria, Renal insufficiency, Weight loss, Hydronephrosis	ORPHA:35687
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome	Excessive wrinkled skin	ORPHA:137608
Cole Disease	Hyperglycemia, Abnormal blood phosphate concentration	OMIM:615522
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Alopecia, Progeroid facial appearance, Ophthalmoplegia, Delayed menarche	ORPHA:412057
Scorpion Envenomation	Ketonuria, Acute kidney injury, Glycosuria, Hypokalemia, Purpura, Elevated circulating aspartate ...	ORPHA:466677
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Proteinuria, Sparse hair, Nail dysplasia	OMIM:616682
Lower Urinary Tract Obstruction, Congenital	Urinary incontinence, Vesicoureteral reflux, Pollakisuria, Congenital posterior urethral valve, U...	OMIM:618612
Pure Autonomic Failure	Dysuria, Urinary incontinence	ORPHA:441
Pyomyositis	Renal insufficiency, Weight loss	ORPHA:764
Lenz-Majewski Hyperostotic Dwarfism	Facial palsy, Epispadias, Hypoplastic fingernail, Severe short stature, Hypospadias, Redundant sk...	ORPHA:2658
Nijmegen Breakage Syndrome	Cutaneous photosensitivity, Pollakisuria, Short stature, Abnormality of neuronal migration, Cache...	ORPHA:647
Cornelia De Lange Syndrome	Synophrys, Thick eyebrow, Vesicoureteral reflux, Multicystic kidney dysplasia, Hypoplasia of peni...	ORPHA:199
Degcags Syndrome	Abnormal renal cortex morphology, Premature graying of hair, Synophrys, Abnormal eyelash morpholo...	OMIM:619488
Acquired Central Diabetes Insipidus	Pollakisuria, Weight loss	ORPHA:95626
Leprechaunism	Decreased body weight, Enlarged kidney, Hypokalemia, Reduced subcutaneous adipose tissue, Increas...	ORPHA:508
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease, Abnormality of hair texture	ORPHA:2752
Cutis Laxa, Autosomal Recessive, Type Ic	Cutis laxa, Multiple bladder diverticula, Redundant skin, Progeroid facial appearance, Growth del...	OMIM:613177
Dermatosparaxis Ehlers-Danlos Syndrome	Abnormality of subcutaneous fat tissue, Severe short stature, Excessive wrinkled skin	ORPHA:1901
Joubert Syndrome 6	Nephronophthisis, Stage 5 chronic kidney disease	OMIM:610688
Primary Sjögren Syndrome	Tubulointerstitial nephritis, Chronic active hepatitis, Abnormality of the kidney, Skin ulcer, Pu...	ORPHA:289390
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Moderate albuminuria, Simplified gyral pattern, Jaundice, Elevated hepatic transaminase, Obesity	OMIM:614231
Tuberous Sclerosis Complex	Renal angiomyolipoma, Stage 5 chronic kidney disease, Abnormality of the kidney, Polycystic kidne...	ORPHA:805
Meckel Syndrome, Type 7	Patent ductus arteriosus, Multicystic kidney dysplasia, Stage 5 chronic kidney disease, Multiple ...	OMIM:267010
Costello Syndrome	Curly hair, Short stature, Deep-set nails, Thin nail, Redundant neck skin, Failure to thrive, Fra...	OMIM:218040
Alagille Syndrome 1	Vesicoureteral reflux, Hepatic failure, Multiple small medullary renal cysts, Hypertriglyceridemi...	OMIM:118450
Wrinkly Skin Syndrome	Short stature, Cutis laxa, Excessive skin wrinkling on dorsum of hands and fingers, Failure to th...	ORPHA:2834
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Sparse eyebrow, Periorbital wrinkles, Hypohidrotic ectodermal dysplasia, Sparse eyelashes, Sparse...	OMIM:224900
Denys-Drash Syndrome	Nephroblastoma, Neonatal death, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidn...	OMIM:194080
Serotonin Syndrome	Acute kidney injury, Hepatic failure	ORPHA:43116
Nephronophthisis-Like Nephropathy 1	Renal tubular atrophy, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Tubular base...	OMIM:613159
Vascular Ehlers-Danlos Syndrome	Alopecia, Aplasia/Hypoplasia of the eyebrow, Short stature, Dermal translucency, Prematurely aged...	ORPHA:286
Wolfram Syndrome	Ophthalmoplegia, Recurrent urinary tract infections, Dysuria, Nephropathy, Delayed puberty, Abnor...	ORPHA:3463
Nestor-Guillermo Progeria Syndrome	Alopecia, Sparse eyebrow, Sparse scalp hair, Short stature, Prominent superficial veins, Failure ...	OMIM:614008
Autosomal Dominant Spastic Paraplegia Type 9A	Urinary incontinence, Urinary urgency, Muscle weakness, Pollakisuria	ORPHA:447753
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system	OMIM:257910
Abdominal Obesity-Metabolic Syndrome 3	Type II diabetes mellitus, Increased LDL cholesterol concentration, Hypercholesterolemia, Hypergl...	OMIM:615812
Au-Kline Syndrome	Vesicoureteral reflux, Hydronephrosis, Sparse lateral eyebrow, Supernumerary nipple, Failure to t...	OMIM:616580
Familial Osteodysplasia, Anderson Type	Thick eyebrow, Hyperuricemia	ORPHA:2769
Geroderma Osteodysplastica	Severe short stature, Prematurely aged appearance, Growth delay, Redundant skin	ORPHA:2078
Fanconi Anemia	Patent ductus arteriosus, Abnormal preputium morphology, Recurrent urinary tract infections, Rena...	ORPHA:84
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Decreased circulating renin level, Hypoglycemia, Hyperkalemia, Hyponatremia	OMIM:201750
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Cutaneous photosensitivity, Short stature, Cachexia, Prematurely aged appearance, Dry skin, Urtic...	ORPHA:220295
Kid Syndrome	Sparse eyebrow, Trichilemmoma, Scarring alopecia of scalp, Onychogryposis, Failure to thrive, Sca...	ORPHA:477
Seckel Syndrome	Sparse scalp hair, Short stature, Cachexia, Prematurely aged appearance, Intrauterine growth reta...	ORPHA:808
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Sparse body hair, Sparse eyebrow, Brittle hair, Absent eyelashes, Periorbital wrinkles, Absent ni...	OMIM:305100
Classical Ehlers-Danlos Syndrome	Striae distensae, Bladder diverticulum, Acrocyanosis, Bruising susceptibility, Ecchymosis, Fragil...	ORPHA:287
Split Cord Malformation	Urinary incontinence, Renal duplication, Detrusor sphincter dyssynergia, Neurogenic bladder, Hype...	ORPHA:573278
Acute Liver Failure	Acute kidney injury, Hepatitis, Jaundice, Hepatocellular necrosis, Elevated hepatic transaminase,...	ORPHA:90062
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Elevated circulating creatine kinase concentration, Optic nerve hypoplasia, Retinal dysplasia, Re...	OMIM:614643
Autosomal Recessive Spastic Paraplegia Type 35	Urinary incontinence, Enuresis nocturna, Pollakisuria, Ophthalmoplegia, Foot dorsiflexor weakness...	ORPHA:171629
Saul-Wilson Syndrome	Short stature, Prominent superficial veins, Progeroid facial appearance, Intrauterine growth reta...	OMIM:618150
Premature Aging Syndrome, Penttinen Type	Prominent superficial veins, Failure to thrive, Prematurely aged appearance, Sparse hair	OMIM:601812
Branchioskeletogenital Syndrome	Synophrys, Periorbital wrinkles, Absent nipple, Penoscrotal hypospadias, Ureteral stenosis, Bladd...	ORPHA:1299
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Premature graying of hair, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, Abnorma...	ORPHA:280365
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Proteasome-Associated Autoinflammatory Syndrome 1	Short stature, Premature graying of hair, Sparse axillary hair, Elevated hepatic transaminase, Fa...	OMIM:256040
Persistent Hyperplastic Primary Vitreous	Tractional retinal detachment, Remnants of the hyaloid vascular system, Hyaloid vascular remnant ...	ORPHA:91495
Familial Mediterranean Fever	Nephrotic syndrome, Stage 5 chronic kidney disease, Elevated circulating C-reactive protein conce...	OMIM:249100
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Short stature, Azotemia, Intrauterine growth retardation, Renal hypoplasia, Abdominal o...	OMIM:619321
Autoimmune Lymphoproliferative Syndrome	Hepatitis, Bruising susceptibility, Glomerulonephritis, Renal insufficiency, Urticaria	ORPHA:3261
Townes-Brocks Syndrome	Patent ductus arteriosus, Vesicoureteral reflux, Urethral valve, Short stature, Abnormality of th...	ORPHA:857
Leptospirosis	Hyperproteinemia, Acute kidney injury, Hepatitis, Jaundice, Cellular urinary casts, Elevated seru...	ORPHA:509
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Homocystinuria	OMIM:601552
Aspartylglucosaminuria	Aspartylglucosaminuria, Angiokeratoma corporis diffusum, Short stature	OMIM:208400
Cockayne Syndrome Type 2	Progeroid facial appearance, Intrauterine growth retardation	ORPHA:90322
Zygomycosis	Hepatitis, Renal insufficiency, External ophthalmoplegia, Nephritis	ORPHA:73263
Joubert Syndrome 5	Impaired renal concentrating ability, Renal cortical cysts, Stage 5 chronic kidney disease, Reduc...	OMIM:610188
African Trypanosomiasis	Urinary incontinence, Alopecia, Weight loss, Jaundice, Muscle weakness, Renal insufficiency	ORPHA:3385
Sotos Syndrome	Patent ductus arteriosus, Vesicoureteral reflux, Small nail, Prolonged neonatal jaundice, Congeni...	ORPHA:821
Coccidioidomycosis	Abnormality of the kidney, Renal insufficiency, Abnormality of the bladder	ORPHA:228123
Digeorge Syndrome	Patent ductus arteriosus, Short stature, Renal dysplasia, Hypocalcemia, Unilateral renal agenesis...	OMIM:188400
Behçet Disease	Glomerulopathy, Renal insufficiency, Weight loss	ORPHA:117
Hereditary Sensory And Autonomic Neuropathy Type 4	Aplasia of the sweat glands, Bruising susceptibility, Growth delay, Dry skin, Chronic kidney disease	ORPHA:642
Igg4-Related Submandibular Gland Disease	Abnormality of the kidney, Renal insufficiency	ORPHA:449432
Hartsfield Syndrome	Hypernatremia	OMIM:615465
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Progeroid facial appearance, Intrauterine growth retardation...	OMIM:616914
Chromosome Xp11.3 Deletion Syndrome	Progeroid facial appearance, Short stature	OMIM:300578
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Retinal nonattachment, Iris coloboma, Remnants of the hyaloid vascular system	OMIM:221900
Arterial Tortuosity Syndrome	Redundant skin, Prematurely aged appearance, Telangiectasia of the skin	ORPHA:3342
Aspartylglucosaminuria	Vascular skin abnormality, Aspartylglucosaminuria	ORPHA:93
Immunodeficiency 82 With Systemic Inflammation	Hypernatremia, Elevated circulating C-reactive protein concentration, Hypoalbuminemia	OMIM:619381
Listeriosis	Acute kidney injury, Jaundice, Pyelonephritis	ORPHA:533
Cutis Laxa, Autosomal Dominant 1	Cutis laxa, Redundant skin, Progeroid facial appearance, Prematurely aged appearance, Poor wound ...	OMIM:123700
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Remnants of the hyaloid vascular system	ORPHA:2714
Townes-Brocks Syndrome 1	Vesicoureteral reflux, Multicystic kidney dysplasia, Urethral valve, Renal dysplasia, Small for g...	OMIM:107480
Blau Syndrome	Stage 5 chronic kidney disease, Skin ulcer, Clear cell renal cell carcinoma, Nephropathy, Erythem...	ORPHA:90340
Acromegaly	Dysuria, Synophrys, Long penis, Abnormal fingernail morphology, Abnormal toenail morphology, Gene...	ORPHA:963
Arterial Tortuosity Syndrome	Telangiectases of the cheeks, Progeroid facial appearance, Cutis laxa, Bruising susceptibility	OMIM:208050
Floating-Harbor Syndrome	Short stature, Congenital posterior urethral valve, Stage 5 chronic kidney disease, Polycystic ki...	ORPHA:2044
Xeroderma Pigmentosum, Complementation Group B	Cutaneous photosensitivity, Progeroid facial appearance, Short stature	OMIM:610651
Pudendal Neuralgia	Dysuria, Pollakisuria	ORPHA:60039
Acromelic Frontonasal Dysostosis	Remnants of the hyaloid vascular system, Optic nerve hypoplasia	OMIM:603671
Somatomammotropinoma	Dysuria, Synophrys, Abnormal fingernail morphology, Abnormal toenail morphology, Generalized hirs...	ORPHA:314769
Pmm2-Cdg	Nephrotic syndrome, Abnormal subcutaneous fat tissue distribution, Abnormal renal tubule morpholo...	ORPHA:79318
Cerebrotendinous Xanthomatosis	Prolonged neonatal jaundice, Abnormal circulating enzyme concentration or activity, Prematurely a...	ORPHA:909
Full Nf2-Related Schwannomatosis	Remnants of the hyaloid vascular system	ORPHA:637
Holoprosencephaly 2	Iris coloboma, Cyclopia, Chorioretinal coloboma, Remnants of the hyaloid vascular system	OMIM:157170
Keppen-Lubinsky Syndrome	Failure to thrive, Progeroid facial appearance, Lack of facial subcutaneous fat	OMIM:614098
Microphthalmia, Syndromic 2	Retinal detachment, Iris coloboma, Remnants of the hyaloid vascular system	OMIM:300166
Norrie Disease	Retinal detachment, Diabetes mellitus, Remnants of the hyaloid vascular system, Optic atrophy	ORPHA:649
Neuroocular Syndrome	Remnants of the hyaloid vascular system, Iris coloboma, Lens coloboma	OMIM:619539

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 Mocs2

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 Mocs2.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Mouse model for molybdenum cofactor deficiency type B recapitulates the phenotype observed in molybdenum cofactor deficient patients.	Human genetics (May 2016)	Mocs2^{tm1(KOMP)Vlcg}	27138983

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MGI Allele	Allele Type	Produced
Mocs2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Mocs2^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Mocs2^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice
Mocs2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Mocs2 MGI:1336894

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Human diseases caused by Mocs2 mutations

Histopathology

IMPC related publications

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Access Data Release 19.0 Data