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Gene: Mocos MGI:1915841

Gene Summary

Name:

molybdenum cofactor sulfurase

Synonyms:

1110018O12Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased total body fat amount	Mocos^em2(IMPC)Ics	HET	Early adult	8.75×10^-05
increased circulating HDL cholesterol level	Mocos^em2(IMPC)Ics	HET	Early adult	6.14×10^-05
increased circulating cholesterol level	Mocos^em2(IMPC)Ics	HET	Early adult	8.41×10^-05

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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

12 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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Human diseases caused by Mocos 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 Mocos (1 diseases)
Human diseases predicted to be associated with Mocos (1239 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Xanthinuria, Type Ii		Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592

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

Disease	Matching phenotypes	Source
Hypertriglyceridemia 2	Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia	OMIM:619324
Xanthomatosis, Susceptibility To	Hypercholesterolemia	OMIM:602247
Thyroid Hormone Metabolism, Abnormal, 2	Hypercholesterolemia	OMIM:619855
Sitosterolemia 2	Elevated circulating sitosterol concentration, Hypercholesterolemia	OMIM:618666
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu...	OMIM:613092
Cholesterol-Ester Transfer Protein Deficiency	Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi...	ORPHA:79506
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy...	ORPHA:228302
Xanthinuria, Type Ii	Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin...	OMIM:603592
Interstitial Nephritis, Karyomegalic	Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c...	OMIM:614817
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Hypouricemia, Xanthine nephrolithiasis, Xanthin...	ORPHA:3467
Hypercholesterolemia, Familial, 4	Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration	OMIM:603813
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Psoriasiform dermatitis, Deep dermal perivascular inflamm...	ORPHA:49041
Hyperlipoproteinemia, Type Ii, And Deafness	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:144300
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit...	ORPHA:157
Hypouricemia, Renal, 1	Hypouricemia, Proteinuria, Elevated circulating creatinine concentration, Urolithiasis, Renal tub...	OMIM:220150
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co...	ORPHA:228308
Hereditary Renal Hypouricemia	Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Mild proteinuri...	ORPHA:94088
Hereditary Amyloidosis With Primary Renal Involvement	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:85450
Nephrotic Syndrome, Type 6	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g...	OMIM:614196
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Hepatomegaly, Inguinal hernia, Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Elevat...	OMIM:614376
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Fanconi-Bickel Syndrome	Hepatomegaly, Ketonuria, Hypouricemia, Elevated circulating aspartate aminotransferase concentrat...	OMIM:227810
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hepatomegaly, Stage 5 chronic kidney disease, Hyperammonemia, Methylmalon...	OMIM:251000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Short stature, Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst,...	OMIM:617056
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Hereditary Coproporphyria	Hyponatremia, Dark urine, Abnormal circulating porphyrin concentration, Porphyrinuria, Atypical s...	ORPHA:79273
Cystinuria	Renal insufficiency, Nephrolithiasis, Hematuria, Hyperuricemia, Abnormality of amino acid metabolism	ORPHA:214
Glycogen Storage Disease Vi	Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia	OMIM:232700
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Short ...	OMIM:616026
Wilson Disease	Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Aminoac...	OMIM:277900
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Hyperlipidemia, Familial Combined, 3	Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c...	OMIM:144250
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, Elevated hepatic tr...	ORPHA:79303
Lead Poisoning	Decreased HDL cholesterol concentration, Small for gestational age, Miscarriage, Skin rash, Chron...	ORPHA:330015
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Cholestasis, Tubulointers...	OMIM:615862
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ...	OMIM:617595
Preeclampsia	Elevated hepatic transaminase, Increased body mass index, Proteinuria, Abnormality of the kidney,...	ORPHA:275555
2P21 Microdeletion Syndrome	Nephrolithiasis, Cystinuria, Growth delay, Hypocalcemia, Failure to thrive	ORPHA:163693
Cystathioninuria	Cystathioninemia, Cystathioninuria, Nephrolithiasis	ORPHA:212
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Hepatomegaly, Increased urine harderoporphyrin level, Increase...	OMIM:618892
Molybdenum Cofactor Deficiency, Complementation Group A	Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Absent urinary urothione...	OMIM:252150
Coronary Artery Disease, Autosomal Dominant, 1	Hypercholesterolemia	OMIM:608320
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ...	OMIM:161900
Cystinuria	Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias...	OMIM:220100
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Elevated circulating creatinine concentration,...	OMIM:602088
Lysinuric Protein Intolerance	Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Renal fibrosis, Leukopenia...	ORPHA:470
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Molybdenum Cofactor Deficiency, Complementation Group B	Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite level, Xanthinuria, Growth dela...	OMIM:252160
Idiopathic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome...	ORPHA:567548
Hypotonia-Cystinuria Syndrome	Growth delay, Failure to thrive, Nephrolithiasis, Cystinuria	ORPHA:163690
Dent Disease	Elevated circulating creatine kinase concentration, Nephrocalcinosis, Aminoaciduria, Low-molecula...	ORPHA:1652
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Autoimmune hemolytic anemia, Hypouricemia, Autoimmune thrombocytopenia, Abnormal T c...	ORPHA:760
Juvenile Nephropathic Cystinosis	Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem...	ORPHA:411634
Senior-Loken Syndrome 9	Stage 5 chronic kidney disease, Cholestasis, Obesity, Tubulointerstitial nephritis, Hepatic fibro...	OMIM:616629
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Combined Oxidative Phosphorylation Deficiency 9	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:614582
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Nephrocalcinosis, Inflammation of the large intestine, Periodontitis, Low levels of vitamin D, He...	ORPHA:79259
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Hypoplasia of penis, Hypospadias, Short stature, Nephrolithiasis, Delayed puberty, Shagreen patch	ORPHA:1816
Branchiootorenal Syndrome 2	Renal insufficiency, Renal dysplasia	OMIM:610896
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Elevated circulating creatinine concentra...	OMIM:614723
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:256100
Hypercalcemia, Infantile, 1	Failure to thrive, Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Weight loss, Nephroc...	OMIM:143880
Lesch-Nyhan Syndrome	Renal insufficiency, Gout, Hematuria, Hyperuricemia, Anemia	ORPHA:510
Hypersulfaturia	Increased urinary sulfate, Nephrolithiasis	OMIM:620372
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Proteinuria, Polyuria, Renal salt wasting, Hypomagnesemia, Thrombocyt...	OMIM:613845
Nephrotic Syndrome, Type 7	Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom...	OMIM:615008
Igg4-Related Kidney Disease	Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits...	ORPHA:449395
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho...	OMIM:618913
Alstrom Syndrome	Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Hype...	OMIM:203800
Senior-Loken Syndrome 1	Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen...	OMIM:266900
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Mesangial hypercellularity,...	ORPHA:329918
Glycogen Storage Disease V	Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration	OMIM:232600
Hypotonia-Cystinuria Syndrome	Postnatal growth retardation, Nephrolithiasis, Cystinuria, Hypocalcemia, Failure to thrive, Cysti...	OMIM:606407
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Elevated circulating C-reactive protein concentration, Renal interstitial edem...	ORPHA:91500
Blue Diaper Syndrome	Elevated hepatic transaminase, Hypercalcemia, Increased body weight, Nephrocalcinosis, Blue urine...	ORPHA:94086
Hypouricemia, Renal, 2	Hypouricemia, Nephrolithiasis	OMIM:612076
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,...	ORPHA:37042
Sucrase-Isomaltase Deficiency, Congenital	Nephrolithiasis	OMIM:222900
Analbuminemia	Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr...	OMIM:616000
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer...	OMIM:603860
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Exercise...	ORPHA:368
Molybdenum Cofactor Deficiency, Complementation Group C	Hypouricemia, Increased urinary taurine, Hypertaurinemia, Neonatal death, Hypocystinemia	OMIM:615501
Purine Nucleoside Phosphorylase Deficiency	Lymphopenia, Recurrent urinary tract infections, Autoimmune hemolytic anemia, Hypouricemia, Incre...	OMIM:613179
Castleman Disease	Renal insufficiency, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Jau...	ORPHA:160
Bardet-Biedl Syndrome 10	Renal insufficiency, Obesity, Renal cyst	OMIM:615987
5-Oxoprolinase Deficiency	Increased level of L-pyroglutamic acid in urine, Enterocolitis, Prolinuria, Calcium oxalate nephr...	OMIM:260005
2p15-16.1 microdeletion syndrome	Camptodactyly of finger, Hydronephrosis	DECIPHER:70
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflammation, ...	ORPHA:79404
Congenital Disorder Of Glycosylation, Type Iip	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616829
Genetic Steroid-Resistant Nephrotic Syndrome	Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton...	ORPHA:656
Drug-Induced Lupus Erythematosus	Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive...	ORPHA:231111
Becker Muscular Dystrophy	Elevated hepatic transaminase, Abnormal urinary color, Myoglobinuria, Elevated circulating creati...	ORPHA:98895
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, Abnormal den...	ORPHA:251004
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612925
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, Short stature, Stage 5 chronic kidney disease, Renal cyst, O...	OMIM:615993
Ulna Metaphyseal Dysplasia Syndrome	Short stature, Nephrolithiasis	ORPHA:1837
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht...	OMIM:606966
Crome Syndrome	Short stature, Renal tubular epithelial necrosis	OMIM:218900
Dicarboxylic Aminoaciduria	Aminoaciduria, Aspartic aciduria, Nephrolithiasis	OMIM:222730
Hepatic Lipase Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration	OMIM:614025
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology	OMIM:609886
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Death in infancy, Proteinuria, Short stature, Hematuria, Tubulointerstitial nephritis, Death in c...	OMIM:616901
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Macdermot-Winter Syndrome	Intrauterine growth retardation, Camptodactyly of finger, Hydronephrosis, Death in infancy	OMIM:247990
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Exercise-i...	OMIM:232800
Glycogen Storage Disease Iv	Portal hypertension, Hepatosplenomegaly, Cirrhosis, Hepatic failure, Arthrogryposis multiplex con...	OMIM:232500
Rudiger Syndrome	Death in infancy, Inguinal hernia, Ureterovesical stenosis, Flexion contracture, Micropenis	OMIM:268650
Dubin-Johnson Syndrome	Abnormal urinary color, Hepatomegaly, Conjugated hyperbilirubinemia, Jaundice, Biliary tract abno...	ORPHA:234
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612926
Lipodystrophy, Congenital Generalized, Type 3	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop...	OMIM:612526
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hyperphosphaturia, Short stature, High serum calcitriol, Increased circulating beta-C-terminal te...	ORPHA:157215
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease	Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch...	OMIM:602114
Stiff Skin Syndrome	Lipoatrophy, Abnormal circulating lipid concentration, Short stature, Nephrolithiasis	ORPHA:2833
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ...	ORPHA:54057
Coenzyme Q10 Deficiency, Primary, 8	Small for gestational age, Postnatal growth retardation, Flexion contracture, Elevated circulatin...	OMIM:616733
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Short stature, High serum calcitriol, Chronic kidney dise...	OMIM:300009
Hypocalcemia, Autosomal Dominant 1	Short stature, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,...	OMIM:601198
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Ankle flexion contracture, Abnormal erythrocyte enzyme level, Abnormal circulating ...	ORPHA:100924
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Hyperglycinuria	Hyperglycinuria, Calcium oxalate nephrolithiasis	OMIM:138500
Mixed-Type Autoimmune Hemolytic Anemia	Abnormal urinary color, Autoimmune hemolytic anemia, Skin rash, Increased total bilirubin	ORPHA:90036
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Inguinal hernia, Nephrolithiasis, Hematuria, Umbilical hernia, Nephropathy	ORPHA:2196
Primary Hyperoxaluria Type 1	Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ...	ORPHA:93598
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, Anemi...	OMIM:246450
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Primary Fanconi Renotubular Syndrome	Low-molecular-weight proteinuria, Hypouricemia, Increased urinary potassium, Chronic kidney disea...	ORPHA:3337
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	ORPHA:228305
Genetic Recurrent Myoglobinuria	Dark urine, Elevated hepatic transaminase, Renal insufficiency, Myositis, Recurrent myoglobinuria...	ORPHA:99845
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis	OMIM:216950
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Polycystic liver disease, Hepatic cysts,...	ORPHA:730
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:613944
Hypothyroidism, Congenital, Nongoitrous, 8	Hypercholesterolemia	OMIM:301033
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot...	ORPHA:54370
Bardet-Biedl Syndrome 18	Renal insufficiency, Stage 5 chronic kidney disease, Obesity	OMIM:615995
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	OMIM:620058
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Discoid lupus rash, Malar rash...	ORPHA:93552
Vitamin B12-Responsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Hyperammonemia, Failure to thrive, Anemia	ORPHA:28
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Elevated circulating creatinine...	OMIM:612924
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Skin rash, Eosinophili...	ORPHA:139402
Bardet-Biedl Syndrome 14	Renal insufficiency, Obesity	OMIM:615991
Hypophosphatemic Rickets, X-Linked Recessive	Renal insufficiency, Short stature, High serum calcitriol, Chronic kidney disease, Nephrolithiasi...	OMIM:300554
Morbid Obesity And Spermatogenic Failure	Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri...	OMIM:615703
Senior-Loken Syndrome 6	Stage 5 chronic kidney disease	OMIM:610189
Azoospermia, Obstructive, With Nephrolithiasis	Nephrolithiasis	OMIM:301060
Interstitial Pneumonitis, Desquamative, Familial	Failure to thrive, Tubulointerstitial fibrosis	OMIM:263000
Camos Syndrome	Nephrotic syndrome, Renal insufficiency	ORPHA:83472
Cold Agglutinin Disease	Splenomegaly, Abnormal urinary color, Hemolytic anemia, Hepatomegaly	ORPHA:56425
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Abnormality of the urinary system, Hydronephrosis	ORPHA:2669
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vesicoureteral reflux, Postnatal growth retardation, Hydroureter, Nephrolithiasis	OMIM:617219
Glycogen Storage Disease Ib	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Short stature, Hep...	OMIM:232220
Alport Syndrome	Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, IgA depo...	ORPHA:63
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri...	ORPHA:261222
Glycogen Storage Disease Ia	Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Short stature, Hyperlipidemia, Delayed ...	OMIM:232200
Idiopathic Hypercalciuria	Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith...	ORPHA:2197
Nephronophthisis	Renal insufficiency, Anemia	ORPHA:655
Hypercholesterolemia, Familial, 3	Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia	OMIM:603776
Malaria	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Hyperbilirubinemia, Acut...	ORPHA:673
Renal Tubular Acidosis, Distal, 1	Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N...	OMIM:179800
Hemorrhagic Fever-Renal Syndrome	Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Pneumonia, Thrombocytopen...	ORPHA:340
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Absence of renal cor...	OMIM:120330
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome...	OMIM:263200
Nephronophthisis-Like Nephropathy 2	Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr...	OMIM:619468
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Jaundice, Schistocytos...	OMIM:274150
Hypomagnesemia 3, Renal	Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ...	OMIM:248250
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Arthritis, Hyperuricemia...	ORPHA:411536
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Coach Syndrome 3	Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma...	OMIM:619113
Hyperbiliverdinemia	Elevated circulating biliverdin concentration, Cholestasis, Decreased liver function, Cholelithia...	OMIM:614156
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Nephrolithiasis, Elevated circulating creatine kinase concentration	ORPHA:352447
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Abnormal circulating calcium concentration, High serum calcitriol, Hyper...	OMIM:241530
Lesch-Nyhan Syndrome	Short stature, Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuri...	OMIM:300322
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Inappropriate behavior, Nephrolithiasis	OMIM:619827
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Myositis, Proteinuria, Eosinophilia, Sinusitis, Increased in...	ORPHA:183
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase conc...	OMIM:614034
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease...	OMIM:162000
Lecithin:Cholesterol Acyltransferase Deficiency	Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria, ...	OMIM:245900
Xanthinuria, Type I	Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis	OMIM:278300
Ethylene Glycol Poisoning	Renal insufficiency, Gastritis, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dy...	ORPHA:31826
Immunodeficiency 91 And Hyperinflammation	Acute hepatic failure, Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephriti...	OMIM:619644
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Short stature, Nephrolithiasis	OMIM:620023
X-Linked Intellectual Disability, Schimke Type	Hip contracture, Failure to thrive in infancy, Short stature, Ankle flexion contracture, Elbow fl...	ORPHA:85285
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hypercalcemia, Nephrolithiasis, Papillary renal cell carcinoma, Recurr...	OMIM:145001
Lipodystrophy, Partial, Acquired, Susceptibility To	Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Progressive...	OMIM:608709
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Short stature, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosc...	OMIM:308990
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia, Hypercalciuria	OMIM:242050
Hypercholesterolemia, Familial, 2	Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia	OMIM:144010
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Proteinuria, Failure to thrive in infancy, Chronic kidney disease, Tubulointerstitial nephritis, ...	ORPHA:488627
Hyperparathyroidism 4	Nephrolithiasis, Hypercalcemia	OMIM:617343
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ...	OMIM:235400
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Crystalluria, Renal insufficiency, Gout, Hyperuricosuria, Arthritis, Hyperuricemia, Acute kidney ...	ORPHA:411543
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Ren...	OMIM:243910
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis...	ORPHA:976
Hemolytic Anemia, Congenital, X-Linked	Dark urine, Hemolytic anemia, Jaundice	OMIM:301015
Relapsing Fever	Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio...	ORPHA:91547
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Gout, Hyperuricosuri...	ORPHA:79233
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Renal insufficiency, Elevated circulating creatine kinase concentration, Hypera...	OMIM:619386
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia	ORPHA:2134
Mucopolysaccharidosis-Plus Syndrome	Hepatomegaly, Proteinuria, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Neutropenia,...	OMIM:617303
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Inguinal hernia, Short stature, Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis...	ORPHA:459061
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Hyperammonemia, Renal tubular dysfunction, G...	ORPHA:289916
Thyrocerebrorenal Syndrome	Renal insufficiency, Nephritis, Thrombocytopenia	ORPHA:3327
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
C3 Glomerulopathy 3	Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St...	OMIM:614809
Medullary Sponge Kidney	Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria	ORPHA:1309
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Renal insufficiency, Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, F...	ORPHA:79312
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Ureteral stenosis, Hydroureter, Large for gestational age, Patent ductus arteriosus, Hypercalciur...	OMIM:615398
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s...	OMIM:602522
Renal Cysts And Diabetes Syndrome	Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,...	OMIM:137920
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive	Calcium oxalate nephrolithiasis	OMIM:248000
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus	OMIM:161950
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Glucose-Galactose Malabsorption	Renal insufficiency, Failure to thrive, Hypercalcemia, Nephrolithiasis, Weight loss, Hematuria, H...	ORPHA:35710
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Nephrolith...	ORPHA:18
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Microscopic hematuria	ORPHA:2613
Hepatic Veno-Occlusive Disease	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Jaundice, Increased body weight...	ORPHA:890
Hyperuricemia, Hprt-Related	Renal insufficiency, Nephrolithiasis, Hyperuricosuria, Hyperuricemia, Podagra	OMIM:300323
Focal Segmental Glomerulosclerosis 1	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:603278
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Claw hand deformity, Elevated circulating creatine kinase concentration, Proteinuria, Stage 5 chr...	OMIM:614455
Dent Disease 2	Short stature, Elevated circulating creatine kinase concentration, Elevated circulating aspartate...	OMIM:300555
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Elevated circulating creatine kinase concentration, Knee flexion contractur...	OMIM:608836
Primary Pulmonary Hypoplasia	Ureteral stenosis, Failure to thrive, Increased circulating surfactant protein level, Intrauterin...	ORPHA:2257
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Abnormal circulating lipid concentration, Proteinuria	ORPHA:225
Focal Segmental Glomerulosclerosis 6	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr...	OMIM:614131
Galactose Epimerase Deficiency	Hepatomegaly, Splenomegaly, Jaundice, Impairment of galactose metabolism, Weight loss, Growth del...	ORPHA:79238
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia	OMIM:612286
Bardet-Biedl Syndrome 19	Renal insufficiency, Patent ductus arteriosus, Renal hypoplasia, Obesity, Hepatic steatosis, Hydr...	OMIM:615996
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hyperuricemia	ORPHA:3222
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia	OMIM:612287
Hartnup Disease	Abnormal urinary color, Skin rash, Short stature, Infectious encephalitis, Neutral hyperaminoacid...	ORPHA:2116
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Cockayne Syndrome Type 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Proteinuria, Scarring, Foot joi...	ORPHA:90321
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an...	ORPHA:90035
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Autoimmune hemolytic anemia, Splenomegaly, Jaundice, Chronic lymphatic le...	ORPHA:90033
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Renal insufficiency, Hypercalcemia, Renal hypoplasia/aplasia, Thrombocytopenia, Pat...	ORPHA:2123
Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Sinusitis, Elevated circulat...	ORPHA:900
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement	Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro...	OMIM:248190
Complement Component 3 Deficiency, Autosomal Recessive	Nephrotic syndrome, Renal insufficiency, Membranoproliferative glomerulonephritis, Recurrent pneu...	OMIM:613779
Rhabdomyolysis, Susceptibility To, 1	Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:620235
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Yao Syndrome	Inflammatory abnormality of the skin, Pericarditis, Skin rash, Nephrolithiasis, Weight loss, Arth...	OMIM:617321
Galloway-Mowat Syndrome 8	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome...	OMIM:618349
Nephrosialidosis	Renal insufficiency, Bone-marrow foam cells, Nephrotic syndrome, Death in childhood, Nephropathy	OMIM:256150
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta...	ORPHA:309854
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Oligomeganephronia	Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Congenita...	ORPHA:2260
Hypocalcemic Vitamin D-Resistant Rickets	Short stature, Nephrolithiasis, Abnormal adipose tissue morphology, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Gitelman Syndrome	Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Iron deficiency ...	ORPHA:358
Nephrotic Syndrome, Type 2	Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ...	OMIM:600995
Hyperlysinemia, Type I	Hyperlysinemia, Hyperlysinuria, Anemia	OMIM:238700
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab...	OMIM:600740
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Hydroureter, Megaloblastic anemia, Neutropenia, Hydronephrosis, Thrombocyto...	OMIM:598500
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Chronic kidney d...	ORPHA:79147
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the spleen, Abnormality of the ureter, Hypospadias	ORPHA:2487
Isolated Biliary Atresia	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Dark yellow urine, Conjug...	ORPHA:30391
Essential Fructosuria	Abnormal urine carbohydrate level, Abnormal erythrocyte enzyme level, Impairment of fructose meta...	ORPHA:2056
Congenital Erythropoietic Porphyria	Anisocytosis, Abnormal circulating porphyrin concentration, Scarring alopecia of scalp, Red-brown...	ORPHA:79277
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization	Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis	ORPHA:69063
Renal Tubular Acidosis, Distal, 2, With Progressive Sensorineural Hearing Loss	Renal tubular acidosis, Nephrolithiasis	OMIM:267300
Nephrotic Syndrome, Type 1	Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Sma...	OMIM:256300
Lessel-Kubisch Syndrome	Renal insufficiency, Short stature, Renal hypoplasia	OMIM:618681
Flotch Syndrome	Inflammatory abnormality of the eye, Nephrolithiasis, Blepharitis	ORPHA:2045
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Small for gestational age, Short stature, Urolithiasis, Gout, H...	OMIM:300661
Indomethacin Embryofetopathy	Nephropathy, Renal insufficiency, Multicystic kidney dysplasia, Abnormal renal tubule morphology	ORPHA:1909
Nephrotic Syndrome, Type 9	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,...	OMIM:615573
Myh9-Related Disease	Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Increased mean platelet volume, ...	ORPHA:182050
Fibronectin Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Hypoalbuminemia, Abnormal g...	ORPHA:84090
Renal Tubular Acidosis Iii	Nephrocalcinosis, Hypokalemia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis	OMIM:267200
Cystinosis, Nephropathic	Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets...	OMIM:219800
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Renal insufficiency, Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopeni...	ORPHA:27
Diffuse Alveolar Hemorrhage	Proteinuria, Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Weigh...	ORPHA:90060
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment	Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome...	OMIM:242530
Gaisböck Syndrome	Hypertriglyceridemia, Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentrati...	ORPHA:90041
Cat-Eye Syndrome	Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Intrauterine growth ret...	ORPHA:195
46,Xy Sex Reversal 4	Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Rec...	OMIM:154230
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl...	OMIM:603965
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria	OMIM:607832
Retinitis Pigmentosa 59	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Intrauterine growth retardation...	OMIM:613861
Systemic Lupus Erythematosus	Hemolytic anemia, Pericarditis, Lupus nephritis, Leukopenia, Arthritis, Malar rash, Nephritis, Th...	OMIM:152700
Porphyria, Congenital Erythropoietic	Hemolytic anemia, Hepatomegaly, Short stature, Splenomegaly, Jaundice, Red urine, Corneal scarrin...	OMIM:263700
Nephrotic Syndrome, Type 15	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ...	OMIM:617609
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes...	OMIM:145981
Osteopetrosis, Autosomal Recessive 9	Stage 3 chronic kidney disease, Postnatal growth retardation, Elevated circulating creatinine con...	OMIM:620366
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Recurrent skin infections, Paten...	ORPHA:33001
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Elevated circulating alpha...	OMIM:613095
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T...	OMIM:104200
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Increased serum pyruvate, Renal insufficiency, Small for gestational age, Hypochromic microcytic ...	OMIM:619147
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Pancytopenia, Short stature, Elevated circulating creatine kinase concentration, Th...	ORPHA:2785
Muckle-Wells Syndrome	Renal insufficiency, Short stature, Maculopapular exanthema, Elevated circulating C-reactive prot...	OMIM:191900
Plasminogen Deficiency, Type I	Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis	OMIM:217090
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Normocytic anemia, Proteinuria, Pneumonia, Skin rash, Nodular regenerative hyperplasia of liver, ...	ORPHA:247691
Complement Factor H Deficiency	Hematuria, Glomerular subendothelial electron-dense deposits, Chronic kidney disease, Thickened g...	OMIM:609814
Acute Intermittent Porphyria	Hyponatremia, Dark urine, Renal insufficiency, Urinary incontinence, Dysuria, Porphyrinuria, Incr...	ORPHA:79276
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia	OMIM:306000
Glycogen Storage Disease Xi	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	OMIM:612933
Nephrotic Syndrome, Type 17	Proteinuria, Short stature, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, M...	OMIM:618176
Sarcoidosis	Increased T cell count, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Leukopenia, Hemo...	ORPHA:797
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Recurrent urinary...	OMIM:615559
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Aicardi-Goutieres Syndrome 9	Hypoalbuminemia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hemolytic anemia, Hepatomegaly,...	OMIM:619487
Lcat Deficiency	Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ...	ORPHA:650
Fanconi Anemia, Complementation Group O	Death in infancy, Short stature, Miscarriage, Stage 5 chronic kidney disease, Renal cyst, Neonata...	OMIM:613390
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Acne, Dorsocervical fat pad, Hyperlipidemia, Nephrolithiasis, I...	ORPHA:189427
Renal Hypoplasia, Bilateral	Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Short stature, Chronic k...	ORPHA:97362
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hepatomegaly, Elevated hepatic transaminase, Hypospadias, Elevated ...	OMIM:301056
Bacterial Toxic-Shock Syndrome	Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir...	ORPHA:36234
Distal Myopathy, Tateyama Type	Hypercholesterolemia, Abnormal circulating creatine kinase concentration	ORPHA:488650
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Elevated circulating creatinine concentration, Growth delay, Increased blood urea nitrogen, Glome...	OMIM:223900
Senior-Loken Syndrome	Short stature, Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney diseas...	ORPHA:3156
Autoimmune Hypoparathyroidism	Calcium nephrolithiasis, Chronic mucocutaneous candidiasis, Hyperphosphatemia, Conjunctivitis, Hy...	ORPHA:36913
Paroxysmal Nocturnal Hemoglobinuria	Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Erythroid hyperplasia, Hemolytic anemia, Reti...	ORPHA:447
Combined Oxidative Phosphorylation Deficiency 34	Hepatomegaly, Pancytopenia, Hepatic failure, Elevated circulating creatinine concentration, Incre...	OMIM:617872
Image Syndrome	Intrauterine growth retardation, Hypospadias, Hydronephrosis	ORPHA:85173
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Small for gestational age, Elevated circulating aspartate aminotran...	OMIM:617093
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Hypercalcemia, Anemia	ORPHA:2668
Spondyloenchondrodysplasia With Immune Dysregulation	Short stature, Pneumonia, Autoimmune thrombocytopenia, T lymphocytopenia, Recurrent otitis media,...	OMIM:607944
Marcus-Gunn Syndrome	Postnatal growth retardation, Nephrolithiasis	ORPHA:91412
Oculocerebrorenal Syndrome Of Lowe	Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodontitis, Chronic otitis...	ORPHA:534
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Elevated hepatic transaminase, Anterior uveitis, Inflammatory abnormal...	ORPHA:95455
Cranioectodermal Dysplasia 1	Hepatomegaly, Inguinal hernia, Rhizomelia, Malformation of the hepatic ductal plate, Renal magnes...	OMIM:218330
Babesiosis	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Hepatic ...	ORPHA:108
Hyperinsulinemic Hypoglycemia, Familial, 8	Hypercholesterolemia, Hyperammonemia, Increased C-peptide level	OMIM:620211
Primary Sjögren Syndrome	Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ...	ORPHA:289390
Johanson-Blizzard Syndrome	Death in infancy, Hypoplasia of penis, Hypospadias, Short stature, Abnormality of the pancreas, I...	ORPHA:2315
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Arthritis, Anemia	ORPHA:375
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Enamel hypomineralization, B...	ORPHA:47159
Aapoaiv Amyloidosis	Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Hyperlipidem...	ORPHA:439232
Oculocerebral Hypopigmentation Syndrome, Cross Type	Inguinal hernia, Ureteral stenosis, Short stature, Growth delay, Abnormality of the urinary syste...	ORPHA:2719
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Hypertyrosinemia, Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, L...	OMIM:124000
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Hypoalbuminemia	ORPHA:94124
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation	Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Renal ...	ORPHA:324525
Glycogen Storage Disease Ic	Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Stomatitis, Chronic pancreati...	OMIM:232240
Wolcott-Rallison Syndrome	Hyponatremia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Elevated hepatic transami...	ORPHA:1667
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Hypoalbuminemia	OMIM:607250
Hypercalciuria, Absorptive, 2	Hypercalciuria, Calcium oxalate nephrolithiasis	OMIM:143870
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinase concentration	OMIM:261670
Nephrotic Syndrome, Type 26	Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta...	OMIM:620049
Dopamine Beta-Hydroxylase Deficiency	Elevated urinary dopamine level, Elevated circulating creatinine concentration, Nocturia, Rhiniti...	ORPHA:230
Cocaine Intoxication	Proteinuria, Glomerulonephritis, Elevated circulating creatine kinase concentration, Hematuria, T...	ORPHA:90068
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Recurrent urinary tract infections, Fetal pyelectasis, Megacystis, Nephrolithiasis	OMIM:619365
Congenital Myopathy 19	Congenital contracture, Renal atrophy, Hydronephrosis	OMIM:618578
Occipital Horn Syndrome	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Ur...	OMIM:304150
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Otopalatodigital Syndrome Type 2	Omphalocele, Hypospadias, Camptodactyly of finger, Ureteral obstruction, Failure to thrive, Hydro...	ORPHA:90652
Jeune Syndrome	Renal insufficiency, Short stature, Abnormality of the liver, Nephronophthisis, Nephropathy	ORPHA:474
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydronephrosis, Hernia	ORPHA:251046
Congenital Anomalies Of Kidney And Urinary Tract 1	Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu...	OMIM:610805
Nephronophthisis 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy	OMIM:611498
Acute Adrenal Insufficiency	Hyponatremia, Normocytic anemia, Renal insufficiency, Hypercalcemia, Renal salt wasting, Decrease...	ORPHA:95409
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis	Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia	OMIM:620374
Hepatoerythropoietic Porphyria	Hemolytic anemia, Recurrent bacterial skin infections, Scarring, Abnormal circulating porphyrin c...	ORPHA:95159
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal...	OMIM:603909
Uremic Pruritus	Inflammatory abnormality of the skin, Renal hypophosphatemia, Hypercalcemia, Recurrent skin infec...	ORPHA:94059
Lipodystrophy, Congenital Generalized, Type 2	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro...	OMIM:269700
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Nephrolithiasis, ...	ORPHA:143
Laurence-Moon Syndrome	Renal insufficiency, Hypoplasia of penis, Short stature, Congenital hepatic fibrosis, Obesity, Di...	ORPHA:2377
Joubert Syndrome 4	Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop...	OMIM:609583
Hyperprolinemia Type 2	Increased urine alpha-ketoglutarate concentration, Renal insufficiency, Reduced circulating vitam...	ORPHA:79101
8P23.1 Duplication Syndrome	Hydronephrosis	ORPHA:251076
3-Hydroxy-3-Methylglutaric Aciduria	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Leukocytosis, Jaundic...	ORPHA:20
Apolipoprotein C-Ii Deficiency	Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr...	OMIM:207750
Thymic Neuroendocrine Tumor	Calcium nephrolithiasis, Pancreatic islet cell adenoma, Hypercalcemia, Weight loss	ORPHA:97289
Primary Hyperoxaluria Type 3	Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri...	ORPHA:93600
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu...	ORPHA:107
Cholesteryl Ester Storage Disease	Hypercholesterolemia, Hypertriglyceridemia	ORPHA:75234
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ...	ORPHA:84081
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Hydroureter, Hydronephrosis	OMIM:618240
Congenital Disorder Of Glycosylation, Type Ih	Hepatomegaly, Death in infancy, Thrombocytopenia, Patent ductus arteriosus, Elevated circulating ...	OMIM:608104
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,...	ORPHA:93111
Senior-Loken Syndrome 5	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:609254
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Increased serum pyruvate, Myoglobinuria, Renal insufficiency, Elevated circulating creatine kinas...	ORPHA:2364
Nephronophthisis 16	Renal insufficiency, Patent ductus arteriosus, Stage 5 chronic kidney disease, Cholestasis, Perip...	OMIM:615382
Orofaciodigital Syndrome Xv	Hydronephrosis	OMIM:617127
Nephrotic Syndrome, Type 13	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:616893
Thyrocerebroretinal Syndrome	Nephritis, Thrombocytopenia	OMIM:274240
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia, Nephrolithiasis	ORPHA:369929
Autoimmune Polyendocrinopathy Type 4	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho...	ORPHA:227990
Tyrosinemia, Type I	Acute hepatic failure, Nephrocalcinosis, Renal Fanconi syndrome, Hypophosphatemic rickets, Hepato...	OMIM:276700
Familial Hypocalciuric Hypercalcemia	Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ...	ORPHA:405
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal...	ORPHA:93110
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia, Nephrolithiasis, Abdominal obesity, Obesity	OMIM:219090
Alg1-Cdg	Renal insufficiency, Abnormality of the kidney, Nephrotic syndrome, Hypoalbuminemia, Decreased li...	ORPHA:79327
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Nephrolithiasis, Decreased circulating renin level	OMIM:615474
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid...	OMIM:300653
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:270150
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Splenomegaly, Abnormality of the uret...	ORPHA:1046
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Hypercalcemia, Nephrolithiasis, ...	ORPHA:99880
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis	OMIM:264140
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Elevated circulating creatine kinase concentration, Renal cyst	OMIM:611773
Beta-Ketothiolase Deficiency	Hepatomegaly, Ketonuria, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocytosis	ORPHA:134
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Hyper...	ORPHA:713
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Renal insufficiency, Proteinuria, Megaloblastic anemia...	OMIM:277400
Fanconi Renotubular Syndrome 3	Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Gl...	OMIM:615605
Formiminoglutamic Aciduria	Megaloblastic anemia, Abnormality of folate metabolism, Abnormal circulating histidine concentrat...	ORPHA:51208
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Neutropenia, Enlarg...	OMIM:615285
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Gro...	ORPHA:541423
Multiple Myeloma	Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl...	ORPHA:29073
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia, Nephrolithiasis, Hypercalciuria, Hypocalciuria, Pancreatitis	OMIM:145980
Pseudo-Torch Syndrome 3	Death in infancy, Proteinuria, Increased circulating ferritin concentration, Leukocytosis, Lympha...	OMIM:618886
Autoimmune Polyendocrinopathy Type 3	Macrocytic anemia, Atrophic gastritis, Autoimmune thrombocytopenia, Iridocyclitis, Biliary cirrho...	ORPHA:227982
Granulomatous Slack Skin	Nephrocalcinosis, Acute kidney injury, Hypercalcemia	ORPHA:33111
Teebi-Shaltout Syndrome	Ureteral stenosis, Short stature, Horseshoe kidney, Camptodactyly, Hydronephrosis	OMIM:272950
Congenital Disorder Of Glycosylation, Type Iig	Renal insufficiency, Hypospadias, Failure to thrive in infancy, Short stature, Rhizomelia, Hemoly...	OMIM:611209
Lethal Infantile Mitochondrial Myopathy	Fatal liver failure in infancy, Renal insufficiency	ORPHA:254857
Williams-Beuren Region Duplication Syndrome	Small for gestational age, Short stature, Unilateral renal agenesis, Patent ductus arteriosus, Ch...	OMIM:609757
Lipodystrophy, Congenital Generalized, Type 1	Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Lipodystro...	OMIM:608594
Paget Disease Of Bone 5, Juvenile-Onset	Increased urine deoxypyridinoline level, Short stature, Macular scar, Hydroxyprolinemia, Hypercal...	OMIM:239000
Senior-Loken Syndrome 4	Anemia, Stage 5 chronic kidney disease, Polyuria, Nephronophthisis	OMIM:606996
Musculocontractural Ehlers-Danlos Syndrome	Inguinal hernia, Recurrent skin infections, Abnormal mesentery morphology, Functional abnormality...	ORPHA:2953
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia, Growth delay, Myoglobinu...	ORPHA:57
Lethal Ataxia With Deafness And Optic Atrophy	Abnormal erythrocyte enzyme level, Hypouricemia	ORPHA:1187
Distal Duplication 6P	Short stature, Renal hypoplasia, Abnormality of the urinary system, Hernia, Intrauterine growth r...	ORPHA:1745
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Hydroureter, Megaloblastic anemia, Growth delay, Hydron...	OMIM:222300
Primary Hyperoxaluria	Elevated hepatic transaminase, Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic ...	ORPHA:416
Acrorenal Syndrome	Renal insufficiency, Abnormal renal morphology, Renal hypoplasia/aplasia	ORPHA:971
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Nephrotic Syndrome, Type 8	Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,...	OMIM:615244
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Short stature, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Ne...	OMIM:301006
Recombinant Chromosome 8 Syndrome	Postnatal growth retardation, Patent ductus arteriosus, Growth delay, Camptodactyly, Joint contra...	OMIM:179613
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Patent ductus arteriosus, Hydronephrosis	OMIM:619797
Frontometaphyseal Dysplasia	Interphalangeal joint contracture of finger, Camptodactyly of finger, Ureteral obstruction, Ureth...	ORPHA:1826
Congenital Disorder Of Glycosylation, Type Iit	Decreased HDL cholesterol concentration, Short stature, Urinary incontinence, Iron deficiency ane...	OMIM:618885
Congenital Disorder Of Glycosylation, Type Iie	Hepatomegaly, Neurogenic bladder, Death in infancy, Short stature, Elevated circulating creatine ...	OMIM:608779
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Inguinal hernia, Hydronephrosis	OMIM:235760
Mirizzi Syndrome	Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Hyperb...	ORPHA:521219
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Bence Jones Proteinuria, Splenomegaly, Weight loss, Nephropa...	ORPHA:100024
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Elevated hepatic transaminase, Myoglobinuria, Elevated circulating creatinine concentration, Elev...	OMIM:620138
Congenital Disorder Of Glycosylation, Type Iio	Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi...	OMIM:616828
Mucopolysaccharidosis, Type X	Disproportionate short-trunk short stature, Nephrolithiasis, Dermatan sulfate excretion in urine	OMIM:619698
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat...	ORPHA:158057
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di...	OMIM:613237
Trimethylaminuria	Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Neutropenia, Anemia	OMIM:602079
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Hypoalbuminemia, Hepatic fibrosis, Neonatal death, Intrahepatic bi...	OMIM:619534
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Ab...	OMIM:123550
Nephrotic Syndrome, Type 3	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru...	OMIM:610725
Reni Syndrome	Diffuse mesangial sclerosis, Lymphopenia, Hypertriglyceridemia, Proteinuria, Mesangial hypercellu...	OMIM:617575
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Death in infancy, Renal hypoplasia, Renal cyst, Renal tubular ...	OMIM:614922
Isolated Sedoheptulokinase Deficiency	Renal insufficiency, Inguinal hernia, Short stature, Portal hypertension, Flexion contracture, He...	ORPHA:440713
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo...	OMIM:609057
Beckwith-Wiedemann Syndrome	Ureteral duplication, Congenital diaphragmatic hernia, Large for gestational age, Hepatoblastoma,...	ORPHA:116
Pancreatic Lipase Deficiency	Hypocholesterolemia, Steatorrhea	OMIM:614338
Igg4-Related Aortitis	Increased inflammatory response, Elevated circulating C-reactive protein concentration, Hypereosi...	ORPHA:449400
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities	Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency	OMIM:249660
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn...	OMIM:616730
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease...	OMIM:166300
Lipodystrophy, Familial Partial, Type 2	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:151660
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Death in infancy, Renal insufficiency, Polycystic liver disease, Proteinuria, Pancreatic fibrosis...	OMIM:208500
Familial Isolated Hyperparathyroidism	Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos...	ORPHA:99879
Intermediate Uveitis	Anterior uveitis, Psoriasiform dermatitis, Macular scar, Tubulointerstitial nephritis, Optic neur...	ORPHA:279914
Gapo Syndrome	Growth delay, Umbilical hernia, Short stature, Nephrolithiasis	ORPHA:2067
Nephrotic Syndrome, Type 4	Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:256370
Apparent Mineralocorticoid Excess	Renal insufficiency, Short stature, Abnormal urine sodium concentration, Nephrocalcinosis, Hypoka...	ORPHA:320
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut...	ORPHA:2457
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated hepatic transaminase, Proteinuria, Elevated circulating creatine kinase co...	ORPHA:94093
Helix Syndrome	Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria	OMIM:617671
Acquired Ichthyosis	Renal insufficiency, Recurrent skin infections	ORPHA:454
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi...	OMIM:613673
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio...	OMIM:616818
Cystinosis	Renal insufficiency, Proteinuria, Short stature, Portal hypertension, Renal tubular dysfunction, ...	ORPHA:213
Gapo Syndrome	Growth delay, Hepatomegaly, Umbilical hernia, Tubulointerstitial fibrosis	OMIM:230740
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Short stature, Unilateral renal agenesis, Acute leukemia	ORPHA:281090
Hereditary Fructose Intolerance	Hepatomegaly, Renal insufficiency, Jaundice, Chronic kidney disease, Hypermagnesemia, Growth dela...	ORPHA:469
Hyperoxaluria, Primary, Type Ii	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:260000
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Decreased body weight, Vesicoureteral reflux, Arthrogryposis multiplex congenita, ...	OMIM:618265
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	Short stature, Rhizomelia, Unilateral renal agenesis, Patent ductus arteriosus, Chronic kidney di...	OMIM:617661
Liddle Syndrome	Nephropathy, Renal insufficiency, Hypokalemia	ORPHA:526
Prune Belly Syndrome	Recurrent urinary tract infections, Multicystic kidney dysplasia, Renal insufficiency, Hydrourete...	ORPHA:2970
Hereditary Hemorrhagic Telangiectasia	Portal hypertension, Microcytic anemia, Nephrolithiasis, Hematuria, Cholecystitis, Cirrhosis, Cho...	ORPHA:774
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic...	OMIM:614377
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Failure to thrive, Short stature, Functional abnormality of the...	ORPHA:223
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Short stature, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormalit...	ORPHA:1834
Fanconi-Bickel Syndrome	Hepatomegaly, Hyperphosphaturia, Hypertriglyceridemia, Elevated circulating aspartate aminotransf...	ORPHA:2088
Coach Syndrome 2	Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce...	OMIM:619111
Combined Deficiency Of Factor V And Factor Viii	Hematuria, Hyperlipidemia, Hyperuricemia	ORPHA:35909
Fructose-1,6-Bisphosphatase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Increased urinary glycerol, Hyperuricemia, Hyperalan...	ORPHA:348
Fructose Intolerance, Hereditary	Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice...	OMIM:229600
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ...	OMIM:236730
Hardikar Syndrome	Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Bladder exstr...	OMIM:301068
Nephrolithiasis, Calcium Oxalate, 1	Hyperoxaluria, Ureteropelvic junction obstruction, Acute kidney injury, Calcium oxalate nephrolit...	OMIM:167030
Congenital Disorder Of Glycosylation, Type It	Elevated hepatic transaminase, Hepatomegaly, Short stature, Elevated circulating aspartate aminot...	OMIM:614921
Hand-Foot-Genital Syndrome	Recurrent urinary tract infections, Hypospadias, Miscarriage, Abnormality of the urethra, Vesicou...	ORPHA:2438
Nephronophthisis 12	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613820
Joubert Syndrome 37	Hepatomegaly, Short stature, Obesity, Micropenis, Hydronephrosis	OMIM:619185
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury, Elevated circulating creatine kinase concentration	OMIM:160010
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	OMIM:254900
Brain Malformations With Or Without Urinary Tract Defects	Inguinal hernia, Renal hypoplasia, Vesicoureteral reflux, Failure to thrive, Hydronephrosis	OMIM:613735
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Patent ductus arteriosus, Hydronephrosis, Increased mean platelet volume	OMIM:300048
Endove Syndrome, Limb-Brain Type	Neurogenic bladder, Recurrent urinary tract infections, Osteomyelitis, Umbilical hernia, Failure ...	OMIM:619218
Schimke Immunoosseous Dysplasia	Renal insufficiency, Pancytopenia, Proteinuria, Small for gestational age, Thrombocytopenia, Disp...	OMIM:242900
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Failure to thrive, Hypervalinemia, Hyperammonemia, Hyperisoleucinemia, Hyperleucinemia, Increased...	OMIM:620085
15Q Overgrowth Syndrome	Contracture of the proximal interphalangeal joint of the 2nd finger, Ureterovesical stenosis, Abn...	ORPHA:314585
Aspartylglucosaminuria	Hepatomegaly, Inguinal hernia, Aspartylglucosaminuria, Splenomegaly, Arthritis, Chronic otitis me...	ORPHA:93
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Short stature, High serum calcitriol, Generalized aminoaciduria...	OMIM:613388
Focal Segmental Glomerulosclerosis 4, Susceptibility To	Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease	OMIM:612551
Lymphangioleiomyomatosis	Abnormal urinary color, Renal neoplasm, Hematuria, Multiple renal cysts, Renal angiomyolipoma, Sh...	ORPHA:538
Transcobalamin Deficiency	Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop...	ORPHA:859
Simple Cryoglobulinemia	Viral hepatitis, Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abno...	ORPHA:91139
Rhabdoid Tumor	Renal neoplasm, Hypercalcemia, Thrombocytopenia, Weight loss, Hematuria, Neoplasm of the liver, A...	ORPHA:69077
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated hepatic transaminase, Increased inflammatory response, Skin rash, Elevated circulating c...	ORPHA:542323
Amyloidosis, Finnish Type	Nephrotic syndrome, Renal insufficiency	OMIM:105120
Osteogenesis Imperfecta, Type X	Inguinal hernia, Rhizomelia, Short stature, Recurrent pneumonia, Nephrolithiasis, Death in childh...	OMIM:613848
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Anuria, Acute colitis, Leukocytosis, Schistocytosis, Elevated circ...	ORPHA:90038
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi...	ORPHA:2704
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Postnatal growth retardation, Splenopancreatic fusio...	OMIM:269150
Schwartz-Jampel Syndrome	Death in infancy, Hip contracture, Inguinal hernia, Short stature, Elevated circulating creatine ...	ORPHA:800
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Nephrotic Syndrome, Type 22	Nephrotic range proteinuria, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glo...	OMIM:619155
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Superficial dermal p...	ORPHA:284426
Developmental Delay, Language Impairment, And Ocular Abnormalities	Contracture of the proximal interphalangeal joint of the 5th finger, Inguinal hernia, Short statu...	OMIM:620141
Schimke Immuno-Osseous Dysplasia	Neutropenia, Nephropathy, Nephrotic range proteinuria, Short stature, Minimal change glomerulonep...	ORPHA:1830
Goodpasture Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Macroscopic hematuria, Weight ...	OMIM:233450
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Short stature, Splenomegaly, Chronic kidney disease, Obesity, Cholestasis, Hepatic ...	OMIM:615630
Congenital Disorder Of Glycosylation, Type Ix	Abnormal glycosylation, Death in childhood, Intrauterine growth retardation, Micropenis, Failure ...	OMIM:615597
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Short stature, Eczema, Minimal change glomerulonephriti...	OMIM:618348
Aa Amyloidosis	Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Cholestasis, Nephro...	ORPHA:85445
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Insulin-Resistance Syndrome Type B	Decreased body weight, Proteinuria, Abnormality of body weight, Pneumonia, Skin rash, Abnormal ci...	ORPHA:2298
Al Amyloidosis	Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Ab...	ORPHA:85443
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome	Chronic kidney disease, Glomerulonephritis	ORPHA:2172
Hypophosphatasia, Infantile	Death in infancy, Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hyp...	OMIM:241500
Nephrogenic Syndrome Of Inappropriate Antidiuresis	Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin...	OMIM:300539
Porphyria Variegata	Hyponatremia, Elevated hepatic transaminase, Neurogenic bladder, Scarring, Abnormal circulating p...	ORPHA:79473
Developmental And Epileptic Encephalopathy 50	Abnormal glycosylation, Acanthocytosis, Oroticaciduria, Schistocytosis, Anisopoikilocytosis, Hype...	OMIM:616457
Orthostatic Hypotension 1	Hypomagnesemia, Nocturia, Increased blood urea nitrogen	OMIM:223360
Webb-Dattani Syndrome	Neurogenic bladder, Short stature, Obesity, Hyposthenuria, Vesicoureteral reflux, Hypernatremia, ...	OMIM:615926
Hyperuricemic Nephropathy, Familial Juvenile, 3	Impaired renal concentrating ability, Renal insufficiency, Hyperuricemia, Abnormal renal insterst...	OMIM:614227
Congenital Analbuminemia	Lipodystrophy, Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, H...	ORPHA:86816
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Renal insufficiency, Hypoplasia of penis, Pancytopenia, Short stature, Renal hypoplasia, Umbilica...	ORPHA:85321
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Short stature, Proteinuria, Nephrotic syndrome, Nephropathy, Anemia	ORPHA:1192
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Generalized Pustular Psoriasis	Hyponatremia, Elevated hepatic transaminase, Renal insufficiency, Elevated circulating C-reactive...	ORPHA:247353
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub...	OMIM:610205
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Pigment gallstones, Osteomyelitis, Microcytic anemia, Abnormal...	ORPHA:232
Melnick-Needles Syndrome	Omphalocele, Ureteral stenosis, Stillbirth, Recurrent otitis media, Failure to thrive, Hydronephr...	OMIM:309350
Alport Syndrome 1, X-Linked	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Thickened glomerular ...	OMIM:301050
3-Methylglutaconic Aciduria Type 7	Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, Growth delay, 3...	ORPHA:445038
Addison Disease	Hyponatremia, Normocytic anemia, Hypercalcemia, Renal salt wasting, Decreased urinary potassium, ...	ORPHA:85138
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Isothenuria, Hemolytic anemia, Reticulocytosis, Short stature, Hepatosplenomegaly, Nephrocalcinos...	OMIM:611590
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato...	ORPHA:101330
Legionnaires Disease	Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Splenomegaly, Jaundice, Myocarditis...	ORPHA:549
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Congenital Myopathy 17	Failure to thrive in infancy, Renal hypoplasia, Distal arthrogryposis, Ureteropelvic junction obs...	OMIM:618975
Xfe Progeroid Syndrome	Elevated hepatic transaminase, Renal insufficiency, Severe short stature, Proteinuria, Cachexia, ...	OMIM:610965
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Death in infancy, Inguinal hernia, Splenomegaly, Pancreatic lymphangiectasis, Hypoc...	OMIM:235255
Netherton Syndrome	Short stature, Eczema, Skin rash, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis	ORPHA:634
Slc35A2-Cdg	Elevated hepatic transaminase, Abnormal glycosylation, Increased circulating thyroglobulin level,...	ORPHA:356961
Combined Oxidative Phosphorylation Deficiency 55	Stage 3 chronic kidney disease, Short stature, Elevated circulating creatine kinase concentration...	OMIM:619743
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Inguinal hernia, Postnatal growth retardation, Splenomegaly, Pancreatic lymphangiec...	ORPHA:1655
Autosomal Recessive Polycystic Kidney Disease	Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H...	ORPHA:731
Nephronophthisis 19	Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise...	OMIM:616217
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Hypoplasia of the thymus, Otitis media, Neutropenia, Hepatomegaly, Perianal abscess, ...	OMIM:612541
Fanconi Renotubular Syndrome 1	Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s...	OMIM:134600
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Peritonitis, Renal amyloidosis, Erysipelas	OMIM:134610
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Lymphopenia, Patent ductus arteriosus after premature birth, Short stature,...	OMIM:618460
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inadequate produ...	ORPHA:231222
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Camptodactyly of finger, Growth delay, Intrauterine growth retardation, Hydr...	ORPHA:2083
Multiple Endocrine Neoplasia Type 2	Reduced subcutaneous adipose tissue, Elevated urinary catecholamine level, Hypercalcemia, Elevate...	ORPHA:653
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Growth delay, Hypokal...	OMIM:617913
Trisomy 13	Patent ductus arteriosus, Abnormality of the ureter, Multiple renal cysts, Hernia, Displacement o...	ORPHA:3378
Pearson Syndrome	Renal cyst, Abnormality of the liver, Hypocalcemia, Neutropenia, Hepatic steatosis, Reticulocytos...	ORPHA:699
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ...	ORPHA:158684
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H...	ORPHA:247598
Tetraploidy	Intrauterine growth retardation, Hydronephrosis, Renal hypoplasia/aplasia	ORPHA:3305
Cryoglobulinemic Vasculitis	Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Viral hepatitis, Splenomegaly, He...	ORPHA:91138
Alkaptonuria	Arthritis, Elevated urinary homogentisic acid, Nephrolithiasis, Decreased glomerular filtration rate	OMIM:203500
Suleiman-El-Hattab Syndrome	Inguinal hernia, Failure to thrive, Hydronephrosis	OMIM:618950
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Stt3B-Cdg	Abnormal glycosylation, Intrauterine growth retardation, Micropenis, Failure to thrive, Thrombocy...	ORPHA:370924
Muckle-Wells Syndrome	Episcleritis, Hepatomegaly, Short stature, Skin rash, Camptodactyly of finger, Splenomegaly, Uvei...	ORPHA:575
Propionic Acidemia	Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Short stature, Eczema, Thr...	OMIM:606054
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Maternal Uniparental Disomy Of Chromosome 2	Renal insufficiency, Hypospadias, Miscarriage, Postnatal growth retardation, Elevated amniotic fl...	ORPHA:96179
Pseudo-Torch Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Patent ductus art...	OMIM:251290
Hand-Foot-Genital Syndrome	Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure...	OMIM:140000
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ...	OMIM:617021
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentr...	OMIM:607426
Hyperoxaluria, Primary, Type I	Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria	OMIM:259900
Cockayne Syndrome	Urinary incontinence, Congenital contracture, Hepatomegaly, Renal hypoplasia, Nephrotic syndrome,...	ORPHA:191
Noonan Syndrome 4	Ureteral duplication, Short stature, Large for gestational age, Hydronephrosis, Thrombocytopenia	OMIM:610733
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Short stature, Abnormality of amino acid metabolism, Cachexia	ORPHA:220295
Sebocystomatosis	Nephrolithiasis	ORPHA:841
Smith-Lemli-Opitz Syndrome	Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Micropenis, Hepatic steatosis, Penoscrotal hypo...	OMIM:270400
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Glomerulopathy, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Po...	ORPHA:2169
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Megaloblastic anemia, Cystathioninuria, Decreased adenosylcobalamin, Hyperhomocystinemia, Neutrop...	OMIM:277380
Leukonychia Totalis	Blepharitis, Nephrolithiasis	ORPHA:2387
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Neonatal death, Hepatomegaly, Portal hypertension, Malformation of th...	OMIM:208540
Avian Influenza	Elevated hepatic transaminase, Lymphopenia, Miscarriage, Elevated circulating creatine kinase con...	ORPHA:454836
Complement Factor I Deficiency	Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph...	OMIM:610984
Glycogen Storage Disease Ixb	Hepatomegaly, Short stature, Splenomegaly, Growth delay, Hyperuricemia, Increased hepatic glycoge...	OMIM:261750
Pulmonary Alveolar Microlithiasis	Calcium nephrolithiasis, Hepatomegaly, Abnormal circulating calcium concentration, Bronchiectasis...	ORPHA:60025
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Megalo...	ORPHA:79282
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Dystonia-Aphonia Syndrome	Abnormal urinary odor	ORPHA:412217
Nephrotic Syndrome, Type 21	Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro...	OMIM:618594
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Hydronephrosis, Recurrent otitis media, Renal hypoplasia, Unilateral renal agenesis	OMIM:618494
Trisomy 17P	Hypoplasia of penis, Urethral valve, Short stature, Patent ductus arteriosus, Urethral stenosis, ...	ORPHA:261290
Diabetic Embryopathy	Ureteral duplication, Renal hypoplasia/aplasia, Abnormality of the pancreas, Micropenis, Hydronep...	ORPHA:1926
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis	OMIM:618060
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Severe short stature, Inguinal hernia, Foot joint contra...	ORPHA:444072
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Postnatal growth retardation, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholesteno...	OMIM:302960
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Growth delay, Failure to thrive, Hydronephrosis	ORPHA:488613
Cloacal Exstrophy	Omphalocele, Hypoplasia of penis, Hydroureter, Ectopic kidney, Renal hypoplasia/aplasia, Horsesho...	ORPHA:93929
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Short stature, Stage 5 c...	OMIM:617730
Gabriele-De Vries Syndrome	Intrauterine growth retardation, Ureteropelvic junction obstruction, Distal arthrogryposis, Hydro...	OMIM:617557
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Death in infancy, Hypospadias, Short stature, Jaundic...	ORPHA:912
Distal Triplication 15Q	Abnormality of the kidney, Large for gestational age, Patent ductus arteriosus, Flexion contractu...	ORPHA:314588
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Hepatoblastoma, Pancreatic hyperplasia, Nephrolithiasis, Renal cortica...	OMIM:130650
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Urethral stricture, Short stature, Increased connective tissue, Keratitis, Scarring alopecia of s...	OMIM:226670
Prune Belly Syndrome	Patent ductus arteriosus, Hydroureter, Congenital posterior urethral valve, Hydronephrosis	OMIM:100100
Hypocomplementemic Urticarial Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Skin rash, Splenome...	ORPHA:36412
Boutonneuse Fever	Elevated hepatic transaminase, Renal insufficiency, Maculopapular exanthema, Skin rash, Leukopeni...	ORPHA:83313
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Renal insufficiency, Elevated circulating creatinine concentration, Renal cyst	OMIM:617478
Aredyld Syndrome	Hepatomegaly, Short stature, Abnormal dental enamel morphology, Cachexia, Lipoatrophy, Splenomega...	ORPHA:1133
Liver Disease, Severe Congenital	Chronic gastritis, Biliary hyperplasia, Leukopenia, Aminoaciduria, Hypocalcemia, Lymphocytosis, E...	OMIM:619991
Shwachman-Diamond Syndrome 1	Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Small for gestational ag...	OMIM:260400
Kury-Isidor Syndrome	Growth delay, Recurrent otitis media, Hydronephrosis	OMIM:619762
Alkaptonuria	Osteoarthritis, Nephrolithiasis, Arthritis, Aminoaciduria, Prostatitis	ORPHA:56
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Patent ductus arteriosus, Death in ch...	OMIM:214100
Beta-Mercaptolactate Cysteine Disulfiduria	Umbilical hernia, Abnormality of the ureter, Obesity, Short stature	ORPHA:1035
Systemic Capillary Leak Syndrome	Renal insufficiency, Pericarditis, Myocarditis, Leukocytosis, Oliguria, Weight loss, Pancreatitis...	ORPHA:188
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic ...	OMIM:251100
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Hypercholesterolemia	ORPHA:254531
Tetrasomy 15Q26	Patent ductus arteriosus, Horseshoe kidney, Camptodactyly, Intrauterine growth retardation, Hydro...	OMIM:614846
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Nephrolithiasis, Abnormality of the kidney	ORPHA:521445
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Small for gestational age, Hypospadias, Flexion contracture, Intrauterine growth retardation, Mic...	OMIM:616897
3-Methylglutaconic Aciduria, Type V	Hypospadias, Elevated circulating aspartate aminotransferase concentration, Postnatal growth reta...	OMIM:610198
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Uterine prolapse, Short stature, Decreased serum iron, Patent ductus arteriosus, Nephrolithiasis,...	ORPHA:438213
Ritscher-Schinzel Syndrome 1	Intrauterine growth retardation, Hypospadias, Hydronephrosis	OMIM:220210
Megabladder, Congenital	Multiple glomerular cysts, Patent ductus arteriosus, Stage 5 chronic kidney disease, Fetal megacy...	OMIM:618719
Igg4-Related Dacryoadenitis And Sialadenitis	Myositis, Retroperitoneal fibrosis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Kerat...	ORPHA:79078
Lipodystrophy, Familial Partial, Type 3	Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su...	OMIM:604367
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Ketonuria, Thrombocytopenia, Decreased adenos...	OMIM:251110
Weyers Ulnar Ray/Oligodactyly Syndrome	Hydronephrosis	OMIM:602418
Nephrotic Syndrome, Type 12	Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo...	OMIM:616892
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Umbilical hernia, Hydronephrosis	OMIM:619217
Pparg-Related Familial Partial Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipoatrophy, Sp...	ORPHA:79083
Mesomelia-Synostoses Syndrome	Umbilical hernia, Short stature, Hydronephrosis	ORPHA:2496
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia, Anemia	ORPHA:371
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Hydronephrosis	ORPHA:531151
Shigellosis	Hyponatremia, Acute colitis, Failure to thrive in infancy, Pneumonia, Hemolytic-uremic syndrome, ...	ORPHA:810
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Flexion contracture, Gastrointestinal inflammation, Iron deficiency anemia, L...	ORPHA:79408
X-Linked Intellectual Disability Due To Gria3 Mutations	Micropenis, Slender build, Hydronephrosis, Short stature	ORPHA:364028
22Q11.2 Duplication Syndrome	Growth delay, Displacement of the urethral meatus, Urethral stenosis, Hydronephrosis	ORPHA:1727
Kabuki Syndrome	Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Shor...	ORPHA:2322
Zaki Syndrome	Renal agenesis, Short stature, Congenital diaphragmatic hernia, Patent ductus arteriosus, Hydrone...	OMIM:619648
Hypoplasminogenemia	Cervicitis, Decreased level of plasminogen, Periodontitis, Nephrolithiasis	ORPHA:722
Legius Syndrome	Short stature, Acute monocytic leukemia, Nephrolithiasis, Multiple lipomas, Male urethral meatus ...	ORPHA:137605
Nephronophthisis 11	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,...	OMIM:613550
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal reticulocyte morphology, Abnormality of the ureter, Hypospadias, Short stature	ORPHA:2522
Hyperlipoproteinemia, Type I	Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent...	OMIM:238600
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Maculopapular exanthema, Skin ...	ORPHA:540
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc...	ORPHA:347
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Gout, Polycystic kidney dysplasia, Decreased...	OMIM:618061
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Death in infancy, Recurrent urinary tract infections, Hypoplasia of penis, Short stature, Abnorma...	ORPHA:847
Distal Limb Deficiencies-Micrognathia Syndrome	Renal insufficiency, Proteinuria, Renal hypoplasia, Short stature	ORPHA:1307
Rhyns Syndrome	Renal insufficiency, Chronic kidney disease, Short stature, Nephronophthisis	OMIM:602152
Robinow Syndrome, Autosomal Recessive 1	Inguinal hernia, Short stature, Nephrolithiasis, Nephrocalcinosis, Umbilical hernia, Micropenis, ...	OMIM:268310
Classic Homocystinuria	Elevated hepatic transaminase, Hepatomegaly, Abnormality of amino acid metabolism, Hernia	ORPHA:394
Morgagni-Stewart-Morel Syndrome	Acne, Osteoarthritis, Obesity, Hyperuricemia, Abnormal metabolism, Hypercholesterolemia	ORPHA:77296
Schinzel-Giedion Syndrome	Inguinal hernia, Myeloid leukemia, Hypospadias, Failure to thrive in infancy, Recurrent pneumonia...	ORPHA:798
Microphthalmia, Syndromic 9	Renal malrotation, Inguinal hernia, Severe short stature, Short stature, Congenital diaphragmatic...	OMIM:601186
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Short stature, Abnormality of the kidney, Patent ductus art...	ORPHA:391641
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Short stature, Recurrent skin infections, Growth delay, Decreased serum creatinine, Intrauterine ...	OMIM:617744
Toluene Embryopathy	Short stature, Hydronephrosis, Abnormal localization of kidney	ORPHA:1920
Koolen-De Vries Syndrome	Ureteral duplication, Overfriendliness, Hypospadias, Short stature, Abnormal dental enamel morpho...	ORPHA:96169
Sepsis In Premature Infants	Hepatomegaly, Small for gestational age, Elevated circulating C-reactive protein concentration, T...	ORPHA:90051
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Recurrent urinary tract infections, Hypospadias, Short stature, Pneumonia, Patent ductus arterios...	ORPHA:353281
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Hydronephrosis	OMIM:607598
Primary Sclerosing Cholangitis	Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepatic fibrosis...	ORPHA:171
Microcephaly 26, Primary, Autosomal Dominant	Failure to thrive, Short stature, Hydronephrosis, Recurrent pneumonia	OMIM:619179
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Elevated circulating creatine kinase concentration, Increased body weight, Hepatic fibrosis, Hepa...	ORPHA:264580
Silver-Russell Syndrome 1	Urethral valve, Hypospadias, Small for gestational age, Abnormality of the ureter, Congenital pos...	OMIM:180860
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Mild postnatal growth retardation, Ectopic kidney, Horseshoe kidney, Hypoalbuminemia, Camptodacty...	OMIM:235510
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Short stature, Abnormal hemoglobin, Anemia	ORPHA:3319
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Small for gestational age, Short s...	OMIM:251300
Melnick-Needles Syndrome	Vesicoureteral reflux, Omphalocele, Short stature, Hydronephrosis	ORPHA:2484
Williams Syndrome	Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit...	ORPHA:904
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Unilateral renal atrophy, Pyelonephritis, Keloids, Nephritis, Renal dysplasia	OMIM:314300
Vacterl/Vater Association	Omphalocele, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Cong...	ORPHA:887
Zimmermann-Laband Syndrome 1	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Long penis, Nephrolithiasis, Umbilical hernia	OMIM:135500
Temple Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Flexion contracture	OMIM:616222
Lysinuric Protein Intolerance	Hepatomegaly, Failure to thrive, Hypolysinemia, Short stature, Increased circulating ferritin con...	OMIM:222700
Carpenter Syndrome 1	Omphalocele, Hydroureter, Short stature, Patent ductus arteriosus, Obesity, Polysplenia, Camptoda...	OMIM:201000
3C Syndrome	Death in infancy, Hypoplasia of penis, Inguinal hernia, Hypospadias, Short stature, Postnatal gro...	ORPHA:7
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Recessive	Abnormal glycosylation, Failure to thrive	OMIM:615596
Burkitt Lymphoma	Abnormality of the spleen, Abnormality of the pancreas, Abnormality of the liver, Hyperuricemia, ...	ORPHA:543
Abdominal Obesity-Metabolic Syndrome 3	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	OMIM:615812
Congenital Generalized Lipodystrophy	Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Hypercholesterolemia, Increased C-pepti...	ORPHA:528
Trisomy 1Q	Omphalocele, Multicystic kidney dysplasia, Camptodactyly of finger, Congenital diaphragmatic hern...	ORPHA:261344
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Renal agenesis, Hypospadias, Postnatal growth retardation, Reduced alpha/beta synthesis ratio, Hy...	OMIM:301040
Fabry Disease	Renal insufficiency, Proteinuria, Urinary mulberry cells, Lipiduria, Delayed puberty, Anemia	OMIM:301500
Kleefstra Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Short stature, Chronic otitis media, Obesi...	ORPHA:261494
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Contracture of the distal interphala...	ORPHA:2614
Hypomagnesemia 2, Renal	Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia, Chondro...	OMIM:154020
Erdheim-Chester Disease	Renal insufficiency, Osteomyelitis, Skin rash, Dysuria, Retroperitoneal fibrosis, Weight loss, Hy...	ORPHA:35687
Snakebite Envenomation	Hyponatremia, Acute kidney injury, Thrombocytopenia	ORPHA:449285
Meningococcal Meningitis	Skin rash, Renal insufficiency, Infectious encephalitis, Elevated circulating C-reactive protein ...	ORPHA:33475
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Amin...	ORPHA:30
Chromosome 2P16.1-P15 Deletion Syndrome	Short stature, Postnatal growth retardation, Camptodactyly, Intrauterine growth retardation, Micr...	OMIM:612513
Microsporidiosis	Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Abnormality of the ur...	ORPHA:2552
Wild Type Attr Amyloidosis	Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy	ORPHA:330001
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Hypospadias, Short stature, Microcytic anemia, Flexion contracture, Failure to thrive, HbH hemogl...	ORPHA:98791
Maternal Uniparental Disomy Of Chromosome 4	Neurogenic bladder, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Sho...	ORPHA:96180
Short Stature, Microcephaly, And Endocrine Dysfunction	Lymphopenia, Inguinal hernia, Short stature, Unilateral renal agenesis, Ectopic kidney, Renal hyp...	OMIM:616541
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Asplenia, Patent ductus arteriosus, Renal hypoplasia, Ab...	OMIM:270100
Dahlberg-Borer-Newcomer Syndrome	Nephropathy, Renal insufficiency, Short stature, Hypocalcemia	ORPHA:1563
Hyperoxaluria, Primary, Type Iii	Hyperoxaluria, Calcium oxalate nephrolithiasis	OMIM:613616
X-Linked Dominant Chondrodysplasia Punctata	Short stature, Scarring alopecia of scalp, Flexion contracture, Severe postnatal growth retardati...	ORPHA:35173
Joubert Syndrome With Hepatic Defect	Elevated hepatic transaminase, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, I...	ORPHA:1454
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Short stature, Thrombocytopenia, Patent ductus arteriosus, Hypoc...	ORPHA:163979
Tarp Syndrome	Horseshoe kidney, Hepatic failure, Neonatal death, Intrauterine growth retardation, Failure to th...	OMIM:311900
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Ureteral agenesis, Abnormality of the urinary system, Congen...	ORPHA:2437
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:208920
Intellectual Disability, Buenos-Aires Type	Umbilical hernia, Short stature, Hydronephrosis	ORPHA:3079
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Uveitis, Leukopenia, Hypoalbuminemia, Abnorma...	ORPHA:99826
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Renal agenesis, Ectopic kidney, Abnormality of the ure...	ORPHA:3027
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Hepatomegaly, Splenomegaly, Leukocytosis, Splenic infarcti...	OMIM:603903
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Short stature, Elevated circul...	ORPHA:79240
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Renal ...	ORPHA:818
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Renal salt wasting, Increased urin...	OMIM:613090
Yellow Fever	Renal insufficiency, Anuria, Neutrophilia, Elevated circulating creatine kinase concentration, El...	ORPHA:99829
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Duplicated collecting system, Hepatomegaly, Inguinal hernia, Elevated circulating aspartate amino...	OMIM:280000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ...	OMIM:615895
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Short stature, Atypical scarring of skin, Intrauter...	ORPHA:1297
Baller-Gerold Syndrome	Failure to thrive in infancy, Short stature, Abnormality of the ureter, Abnormal localization of ...	ORPHA:1225
Coach Syndrome 1	Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple...	OMIM:216360
Tyrosinemia Type 2	Abnormality of amino acid metabolism	ORPHA:28378
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Intrauterine growth retardation, Patent ductus arteriosus, Limb joint contracture, Hydronephrosis	OMIM:620327
Bardet-Biedl Syndrome 9	Truncal obesity, Renal insufficiency, Obesity	OMIM:615986
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney	OMIM:314390
Cystic Fibrosis	Elevated hepatic transaminase, Sinusitis, Nephrolithiasis, Bronchiectasis, Abnormality of the liv...	ORPHA:586
Lujo Hemorrhagic Fever	Elevated hepatic transaminase, Lymphopenia, Renal insufficiency, Maculopapular exanthema, Skin ra...	ORPHA:319213
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Renal insufficiency, Psoriasiform dermatitis, Unilateral renal agenesis, Severe ...	ORPHA:2237
Scrub Typhus	Anterior uveitis, Renal insufficiency, Skin rash, Splenomegaly, Myocarditis, Infectious encephalitis	ORPHA:83317
Takenouchi-Kosaki Syndrome	Inguinal hernia, Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Patent d...	OMIM:616737
Variant Abeta2M Amyloidosis	Hepatic amyloidosis, Chronic kidney disease, Renal amyloidosis	ORPHA:314652
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ...	OMIM:617641
Igg4-Related Pachymeningitis	Sinusitis, Eosinophilia, Elevated circulating C-reactive protein concentration, Lymphadenitis, Ne...	ORPHA:449427
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne...	OMIM:619609
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Short stature, Asplenia,...	OMIM:185070
Osteootohepatoenteric Syndrome	Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh...	OMIM:619377
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Growth delay, Patent ductus arteriosus, Short stature, Hydronephrosis	ORPHA:457193
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Growth delay, Ureteropelvic junction obstruction, Failure to thrive, Hydronep...	OMIM:616973
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Hepatic cysts, Polycystic kidney dysplasia	OMIM:173900
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypospadias, Hypercalcemia, Postnatal growth retardation, Hypercalciuria, Intrauterine growth ret...	OMIM:614732
Mevalonic Aciduria	Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive in infancy, Eleva...	OMIM:610377
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Abnorm...	ORPHA:552
Micro Syndrome	Hypoplasia of penis, Short stature, Abnormal localization of kidney, Delayed puberty, Intrauterin...	ORPHA:2510
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema...	ORPHA:79403
Laron Syndrome	Hypercholesterolemia	ORPHA:633
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney...	ORPHA:567546
Rhizomelic Limb Shortening With Dysmorphic Features	Stage 1 chronic kidney disease, Rhizomelia, Obesity	OMIM:618821
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Short stature, Hyperuricemia	ORPHA:364
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Short stature, Camptodactyly of finger, Abnormality of the ureter, Obesity, ...	ORPHA:3409
Fructosuria, Essential	Impairment of fructose metabolism	OMIM:229800
Glycogen Storage Disease Xii	Normocytic anemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentratio...	OMIM:611881
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Death in childhood, Amin...	OMIM:220110
Bartter Syndrome Type 4	Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary...	ORPHA:89938
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan...	ORPHA:436271
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Inguinal hernia, Postnatal growth retardation, Flexion contracture, Umbilical hernia...	ORPHA:254528
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Ureteral hypoplasia, Congenital diaphragmatic hernia, Blad...	OMIM:614080
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Failure to thrive, St...	OMIM:308940
Autoimmune Lymphoproliferative Syndrome	Uveitis, Colitis, Lymphocytosis, Increased B cell count, Abnormal vitamin B12 level, Elevated pro...	ORPHA:3261
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Proteinuria, Short stature, Hiatus hernia, Stage 5 chronic kidney di...	OMIM:617729
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat...	ORPHA:64753
Osteogenesis Imperfecta	Inguinal hernia, Short stature, Small for gestational age, Rhizomelia, Abnormal dental enamel mor...	ORPHA:666
Branchioskeletogenital Syndrome	Ureteral stenosis, Umbilical hernia, Micropenis, Bladder exstrophy, Penoscrotal hypospadias	ORPHA:1299
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
1Q21.1 Microdeletion Syndrome	Inguinal hernia, Short stature, Patent ductus arteriosus, Vesicoureteral reflux, Intrauterine gro...	ORPHA:250989
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Abnormality of the gallbladder, Abnormality of...	ORPHA:2869
Mosaic Trisomy 9	Hypoplasia of penis, Camptodactyly of finger, Asplenia, Patent ductus arteriosus, Horseshoe kidne...	ORPHA:99776
Combined Oxidative Phosphorylation Deficiency 14	Death in infancy, Copper accumulation in liver, Anemia, Growth delay, Aminoaciduria, Death in chi...	OMIM:614946
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Short stature, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholesteno...	OMIM:308050
Microphthalmia, Lenz Type	Hydroureter, Hypospadias, Short stature, Camptodactyly of finger, Renal hypoplasia/aplasia, Hydro...	ORPHA:568
Lamellar Ichthyosis	Chronic otitis media, Renal insufficiency, Short stature, Erythroderma	ORPHA:313
Systemic Sclerosis	Renal insufficiency, Pericarditis, Proteinuria, Elevated circulating creatine kinase concentratio...	ORPHA:90291
Trisomy 20P	Inguinal hernia, Hypospadias, Abnormality of the kidney, Camptodactyly of finger, Abnormality of ...	ORPHA:261318
Ataxia With Vitamin E Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma	OMIM:277460
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Short stature, Pneumo...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Short stature, Pneumo...	ORPHA:353277
Transaldolase Deficiency	Abnormality of the kidney, Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine c...	ORPHA:101028
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Microscopic Polyangiitis	Episcleritis, Glomerulopathy, Renal insufficiency, Sinusitis, Increased inflammatory response, Pe...	ORPHA:727
Thymoma	Myositis, Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synth...	ORPHA:99867
Kleefstra Syndrome Due To 9Q34 Microdeletion	Renal insufficiency, Hypoplasia of penis, Femoral hernia, Inguinal hernia, Obesity, Growth delay,...	ORPHA:96147
Smith-Magenis Syndrome	Hypercholesterolemia, Hypertriglyceridemia	OMIM:182290
Vater/Vacterl Association	Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retardation, Paten...	OMIM:192350
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Elevated circulating C-reactive protein concentration, Patent ...	ORPHA:97214
Fabry Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Hyperlipidemia, Hematuria, Nephr...	ORPHA:324
Stevens-Johnson Syndrome	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o...	ORPHA:36426
Galactokinase Deficiency	Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia	ORPHA:79237
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Short stature	ORPHA:2715
17Q12 Microdeletion Syndrome	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Short stature, ...	ORPHA:261265
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Reticulocytopenia, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Compl...	OMIM:557000
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Patent ductus arteriosus, Elliptocytosis, Micro...	ORPHA:86818
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Small for gestational age, Short stature, Eczema, Patent duct...	OMIM:610443
Encephalocraniocutaneous Lipomatosis	Lipoma, Pelvic kidney, Multiple central nervous system lipomas, Hydronephrosis, Subcutaneous lipoma	OMIM:613001
Liddle Syndrome 1	Renal insufficiency, Hypokalemia, Decreased circulating renin level	OMIM:177200
Cat Eye Syndrome	Renal agenesis, Short stature, Patent ductus arteriosus, Biliary atresia, Horseshoe kidney, Vesic...	OMIM:115470
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Hyperphosphaturia, Hypercalcemia, Polyuria, Splenomegaly, Hypercalciuri...	OMIM:239200
Smith-Magenis Syndrome	Hypertriglyceridemia, Failure to thrive in infancy, Short stature, Renal hypoplasia/aplasia, Abno...	ORPHA:819
Cog4-Cdg	Hypercholesterolemia	ORPHA:263501
Omenn Syndrome	Hepatomegaly, Failure to thrive, Eosinophilia, Pneumonia, Splenomegaly, Leukocytosis, Thyroiditis...	ORPHA:39041
Frasier Syndrome	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:136680
Mandibuloacral Dysplasia With Type A Lipodystrophy	Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Li...	OMIM:248370
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Hypercalcemia, Insulinoma, Nephrolithiasis, Hypercalciuria, Weight loss...	ORPHA:652
Marden-Walker Syndrome	Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia...	ORPHA:2461
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Renal insufficiency, Hypospadias, Obesity, Nephropathy, Nephroblastoma	OMIM:194072
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly	ORPHA:46532
Raine Syndrome	Death in infancy, Hydroureter, Short stature, Hypophosphatemia, Neonatal death, Arthrogryposis mu...	OMIM:259775
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eosinophilia, Autoimmune thrombocytopenia, Eczema, Thrombocytopenia, Hepatiti...	OMIM:304790
Mosaic Trisomy 8	Short stature, Camptodactyly of finger, Vesicoureteral reflux, Arthrogryposis multiplex congenita...	ORPHA:96061
Late-Onset Isolated Acth Deficiency	Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, He...	ORPHA:199299
Toxic Epidermal Necrolysis	Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o...	ORPHA:537
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Recurrent pneumonia, Hypospadias, Hydronephrosis	OMIM:616449
Prolidase Deficiency	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Hyperimidodi...	OMIM:170100
2P15P16.1 Microdeletion Syndrome	Multicystic kidney dysplasia, Inguinal hernia, Camptodactyly of finger, Growth delay, Intrauterin...	ORPHA:261349
Kabuki Syndrome 1	Hemolytic anemia, Crossed fused renal ectopia, Short stature, Autoimmune thrombocytopenia, Postna...	OMIM:147920
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Death in early adulthood, Decreased adipose tissue ...	OMIM:608612
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Growth delay, Short stature, Glandular hypospadias	ORPHA:1358
Lymphedema-Hypoparathyroidism Syndrome	Nephropathy, Renal insufficiency, Short stature	OMIM:247410
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Abnormal renal glomerulus morphology, Reduced subcutaneous adipose tissue, Renal insufficiency, M...	OMIM:137940
Pelvis-Shoulder Dysplasia	Short stature, Camptodactyly of finger, Mesomelic/rhizomelic limb shortening, Neonatal short-trun...	ORPHA:2839
Listeriosis	Pericarditis, Liver abscess, Miscarriage, Pneumonia, Osteomyelitis, Pustule, Myocarditis, Jaundic...	ORPHA:533
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Short stature, Knee flexion contracture, Arthrogry...	ORPHA:85201
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Renal insufficiency, Renal corticomedullary cysts, Hyperechogenic kid...	OMIM:219730
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Proportionate short stature, Dentinogenesis imperfecta, Obesity, Growth delay, Periodontitis, Mod...	OMIM:619269
Joubert Syndrome 3	Stage 5 chronic kidney disease, Nephronophthisis	OMIM:608629
Mitochondrial Complex I Deficiency, Nuclear Type 39	Small for gestational age, Intrauterine growth retardation, Hypospadias, Anemia	OMIM:620135
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Short stature, Congenital diaphragmatic hernia, Patent ductus arter...	OMIM:618454
Refsum Disease	Splenomegaly, Renal insufficiency	ORPHA:773
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Hypoplasia of the bladder, Hydroureter, Small for gestational age, Short stature, Vesicoureteral ...	OMIM:300707
Cockayne Syndrome Type 3	Elevated hepatic transaminase, Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter...	ORPHA:90324
Autosomal Recessive Spastic Paraplegia Type 20	Hydronephrosis, Growth delay, Short stature, Dysuria	ORPHA:101000
Pallister-Hall Syndrome	Renal dysplasia, Hydroureter, Short stature, Distal urethral duplication, Ectopic kidney, Patent ...	OMIM:146510
Congenital Disorder Of Glycosylation, Type Iim	Abnormal isoelectric focusing of serum transferrin, Vesicovaginal fistula, Enamel hypoplasia, Int...	OMIM:300896
Nijmegen Breakage Syndrome	Recurrent urinary tract infections, Autoimmune hemolytic anemia, Short stature, Sinusitis, Recurr...	OMIM:251260
Al-Gazali Syndrome	Failure to thrive, Wrist flexion contracture, Hydronephrosis, Recurrent pneumonia	OMIM:609465
Senior-Loken Syndrome 8	Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr...	OMIM:616307
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia	ORPHA:209902
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce...	OMIM:309000
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Pfeiffer Syndrome Type 3	Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney	ORPHA:93260
Fanconi Anemia, Complementation Group F	Failure to thrive, Short stature, Pneumonia, Thrombocytopenia, Patent ductus arteriosus, Renal hy...	OMIM:603467
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem...	ORPHA:247585
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Short stature, Pneumonia, Autoimmune thro...	ORPHA:1855
Chromosome 17Q12 Deletion Syndrome	Elevated hepatic transaminase, Hypoplasia of the bladder, Recurrent urinary tract infections, Mul...	OMIM:614527
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Colchicine Poisoning	Hyponatremia, Renal insufficiency, Myocarditis, Leukocytosis, Abnormal blood ion concentration, O...	ORPHA:31824
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Abno...	ORPHA:411629
Stromme Syndrome	Accessory spleen, Stillbirth, Bilateral renal hypoplasia, Hydronephrosis	OMIM:243605
Craniofacioskeletal Syndrome	Absent gallbladder, Hypospadias, Short stature, Patent ductus arteriosus, Hypocalcemia, Intrauter...	OMIM:300712
Focal Dermal Hypoplasia	Acute hepatic failure, Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Abnormal denta...	ORPHA:2092
Acute Generalized Exanthematous Pustulosis	Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Renal insufficiency,...	ORPHA:293173
Digeorge Syndrome	Hypoplasia of the thymus, Hypocalcemia, Hepatic steatosis, Short stature, Acne, Femoral hernia, P...	OMIM:188400
Ileal Neuroendocrine Tumor	Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Iron deficiency anemia, Hep...	ORPHA:100078
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Ketonuria, Large for gestational age, Thrombocytopenia, Aminoaciduria, Neutropenia, Umbilical her...	OMIM:614520
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Elevated circulating creatine kinase concentration, Leukopenia, Myoglobinur...	OMIM:255125
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Stt3A-Cdg	Abnormal glycosylation, Micropenis, Failure to thrive	ORPHA:370921
Duane-Radial Ray Syndrome	Renal malrotation, Renal agenesis, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Cro...	OMIM:607323
Martin-Probst Syndrome	Renal insufficiency, Pancytopenia, Proteinuria, Short stature, Chordee, Umbilical hernia, Micropenis	OMIM:300519
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Abnormality of the upper urinary tract, Growth delay, Failure to thrive, Hydronephrosis	ORPHA:2995
Renal Agenesis	Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A...	ORPHA:411709
Okamoto Syndrome	Omphalocele, Urinary incontinence, Splenomegaly, Unilateral renal hypoplasia, Severe postnatal gr...	ORPHA:2729
Hellp Syndrome	Elevated hepatic transaminase, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentrat...	ORPHA:244242
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A	Failure to thrive, Hyperglutamatemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Ane...	OMIM:620358
Zygomycosis	Renal insufficiency, Fasciitis, Sinusitis, Pericarditis, Gastritis, Pustule, Myocarditis, Periton...	ORPHA:73263
Severe Acute Respiratory Syndrome	Acute infectious pneumonia, Acute kidney injury	ORPHA:140896
Juvenile Paget Disease	Short stature, Hyperuricemia	ORPHA:2801
Dubowitz Syndrome	Hypospadias, Short stature, Abnormality of neutrophils, Eczema, Postnatal growth retardation, Thr...	ORPHA:235
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Cystic renal dysplasia, Obesity	OMIM:615989
Intellectual Developmental Disorder, Autosomal Dominant 53	Growth delay, Micropenis, Hydronephrosis	OMIM:617798
Mitochondrial Complex I Deficiency, Nuclear Type 29	Hyperalaninemia, Failure to thrive, Stage 5 chronic kidney disease, Lacticaciduria	OMIM:618250
Familial Mediterranean Fever	Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ...	OMIM:249100
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Short stature, Patent ductus arteriosus, Vesicoureteral reflux, Micropenis	OMIM:617159
Dysbetalipoproteinemia	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	ORPHA:412
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec...	OMIM:256700
8P Inverted Duplication/Deletion Syndrome	Contractures of the large joints, Abnormality of the urinary system, Aplasia/Hypoplasia of the ga...	ORPHA:96092
Fryns Syndrome	Omphalocele, Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Vesicour...	ORPHA:2059
Penoscrotal Transposition	Renal agenesis, Hypospadias, Abnormality of the urethra, Penoscrotal transposition, Abnormality o...	ORPHA:2842
Alagille Syndrome	Hepatomegaly, Renal hypoplasia/aplasia, Abnormality of the ureter, Cholestasis, Nephrotic syndrom...	ORPHA:52
Joubert Syndrome 9	Hepatic fibrosis, Stage 5 chronic kidney disease	OMIM:612285
Cutis Laxa, Autosomal Recessive, Type Ic	Accessory spleen, Death in infancy, Posterolateral diaphragmatic hernia, Inguinal hernia, Morgagn...	OMIM:613177
Interstitial Lung And Liver Disease	Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating...	OMIM:615486
Distal Deletion 10Q	Failure to thrive, Short stature, Postnatal growth retardation, Patent ductus arteriosus, Functio...	ORPHA:96148
Cholera	Hyponatremia, Abnormality of renal excretion, Miscarriage, Abnormal blood ion concentration, Hypo...	ORPHA:173
Familial Dysautonomia	Hyponatremia, Glomerulopathy, Renal insufficiency, Abnormal peritoneum morphology, Abnormality of...	ORPHA:1764
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Umbilical hernia, Patent ductus arteriosus, Ureteral triplication, Hydronephrosis	OMIM:104350
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Proteinuria, Chronic kidney disease, Thickened glomerular basement membrane, Proximal renal tubul...	OMIM:146255
Hemoglobin H Disease	Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Tarp Syndrome	Extramedullary hematopoiesis, Horseshoe kidney, Intrauterine growth retardation, Failure to thriv...	ORPHA:2886
Mirage Syndrome	Hyponatremia, Recurrent urinary tract infections, Hypospadias, Short stature, Thrombocytopenia, P...	OMIM:617053
Amelogenesis Imperfecta, Type Ig	Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis, ...	OMIM:204690
Diamond-Blackfan Anemia 10	Macrocytic anemia, Short stature, Congenital diaphragmatic hernia, Ectopic kidney, Morgagni diaph...	OMIM:613309
Distal Deletion 12Q	Late onset atopic dermatitis, Failure to thrive in infancy, Short stature, Ectopic kidney, Patent...	ORPHA:96149
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Renal insufficiency, Abnormality of neutrophils, Splenomegaly, L...	ORPHA:33226
Galactose Mutarotase Deficiency	Hepatomegaly, Impairment of galactose metabolism, Cholestasis, Hypergalactosemia, Decreased liver...	ORPHA:570422
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Failure to thrive, Flexion contracture of finger, Hypospadias, Small for gestational age, Unilate...	ORPHA:464311
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Inguinal hernia, Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Postnata...	ORPHA:487796
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Patent ductus arteriosus, Flex...	ORPHA:505248
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Short stature, Hematuria, Nephrotic syndrome	OMIM:161200
Joubert Syndrome 2	Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis	OMIM:608091
Brucellosis	Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Leukop...	ORPHA:1304
Sotos Syndrome	Ureteral duplication, Flexion contracture, Chronic otitis media, Vesicoureteral reflux, Hypospadi...	ORPHA:821
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Hydroureter, Elevated circulating alpha-fetoprotein concentration, Patent ductus arteriosus, Hype...	ORPHA:280633
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Umbilical hernia, Abnormality of the ureter, Short stature, Renal hypoplasia/aplasia	ORPHA:1770
Gaucher Disease Type 1	Hepatomegaly, Pancytopenia, Proteinuria, Hypersplenism, Thrombocytopenia, Splenomegaly, Osteoarth...	ORPHA:77259
Beta-Thalassemia	Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ...	ORPHA:848
9Q31.1Q31.3 Microdeletion Syndrome	Hypercholesterolemia	ORPHA:401923
Gabriele-De Vries Syndrome	Small for gestational age, Distal arthrogryposis, Intrauterine growth retardation, Ureteropelvic ...	ORPHA:506358
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Elevated hepatic transaminase, Renal insufficiency, Hypospadias, Short stature, Rhizomelic leg sh...	ORPHA:397715
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr...	OMIM:278000
Fanconi Anemia, Complementation Group A	Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Short stat...	OMIM:227650
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Short stature, Renal hypoplasia/aplasia, Patent...	ORPHA:2473
Trisomy 18	Omphalocele, Short stature, Camptodactyly of finger, Cachexia, Abnormality of the upper urinary t...	ORPHA:3380
Cardiogenic Shock	Elevated circulating creatinine concentration, Oliguria	ORPHA:97292
Hyperphosphatasia-Intellectual Disability Syndrome	Growth delay, Hydronephrosis	ORPHA:247262
Lesch-Nyhan Phenotype With Normal Hgprt	Hyperuricemia	OMIM:308950
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Rena...	ORPHA:556030
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Hypercholesterolemia	ORPHA:96184
Fanconi Anemia, Complementation Group E	Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Short stat...	OMIM:600901
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Rena...	ORPHA:556037
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Short stature, Patent duct...	OMIM:619522
Bardet-Biedl Syndrome 17	Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Micropenis	OMIM:615994
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Inguinal hernia, Obesity, Vesicoureteral reflux, Micropenis, Pelvic kidney, Hydronephrosis	OMIM:618653
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Hydronephrosis, Patent ductus arteriosus, Short stature, Renal dysplasia	OMIM:300968
Frontometaphyseal Dysplasia 1	Hydroureter, Interphalangeal joint contracture of finger, Ankle flexion contracture, Camptodactyl...	OMIM:305620
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Vesicoureteral reflux, Intrauterine growth retardation, Failure to thrive, Abnormal bladder morph...	ORPHA:453499
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia	ORPHA:231393
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Renal agenesis, Hypospadias, Pure red cell apl...	ORPHA:124
7Q11.23 Microduplication Syndrome	Inguinal hernia, Hypospadias, Short stature, Unilateral renal agenesis, Congenital diaphragmatic ...	ORPHA:96121
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Failure to thrive, Hepatomegaly, Short stature, Cholangitis, Rhizomelia, Pa...	OMIM:266920
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio...	ORPHA:2133
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Inguinal hernia, Portal hypertension, Pa...	OMIM:267010
Dyrk1A-Related Intellectual Disability Syndrome	Failure to thrive, Multiple joint contractures, Hypospadias, Small for gestational age, Unilatera...	ORPHA:464306
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis	OMIM:619362
Cranioectodermal Dysplasia 2	Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Inguinal hernia, Short stature,...	OMIM:613610
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Basel-Vanagaite-Smirin-Yosef Syndrome	Inguinal hernia, Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Cholelithiasis,...	ORPHA:464738
Holoprosencephaly-Caudal Dysgenesis Syndrome	Renal insufficiency	ORPHA:2165
Calciphylaxis	Hyperphosphatemia, Stage 5 chronic kidney disease, Cellulitis	ORPHA:280062
Cardiofaciocutaneous Syndrome 1	Short stature, Splenomegaly, Atopic dermatitis, Failure to thrive, Hydronephrosis	OMIM:115150
Eec Syndrome	Hypospadias, Short stature, Abnormal dental enamel morphology, Renal hypoplasia/aplasia, Keratiti...	ORPHA:1896
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Superficial dermal perivascular inflamma...	ORPHA:83617
Thakker-Donnai Syndrome	Intrauterine growth retardation, Hydronephrosis, Congenital diaphragmatic hernia	ORPHA:1780
Arteriosclerosis, Severe Juvenile	Chronic kidney disease, Short stature, Anemia, Delayed puberty	OMIM:208060
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated hepatic transaminase, Neutrophilia, Liver abscess, Abnormality of the kidney, Elevated c...	ORPHA:54251
Fanconi Anemia, Complementation Group P	Pancytopenia, Short stature, Horseshoe kidney, Growth delay, Pelvic kidney, Anemia	OMIM:613951
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Giant Cell Arteritis	Renal insufficiency, Pericarditis, Weight loss, Hematuria, Arthritis, Hepatic failure	ORPHA:397
Alagille Syndrome 1	Duplicated collecting system, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatocellular...	OMIM:118450
Cockayne Syndrome B	Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Severe short stature, Pro...	OMIM:133540
Joubert Syndrome 6	Bile duct proliferation, Hepatic fibrosis, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:610688
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Asplenia, Patent ductus arteriosus, Annular pancreas, Hydronephrosis	ORPHA:210122
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Pancytopenia, Small for gestational age, Renal agenesis, Short stat...	OMIM:227645
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Oliguria, Weight loss, Lymphocytosis, Hypochromic anemia,...	ORPHA:514
Monosomy 9P	Ureteropelvic junction obstruction, Hernia, Hypospadias, Congenital diaphragmatic hernia	ORPHA:261112
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Hydroureter, Hypo...	ORPHA:84
Mercury Poisoning	Interstitial pneumonitis, Hypokalemia, Acute kidney injury	ORPHA:330021
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Acute Interstitial Pneumonia	Bronchiectasis, Elevated circulating creatinine concentration, Reduced hematocrit, Elevated circu...	ORPHA:79126
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Renal insufficiency, Flexion contracture, Oliguria	ORPHA:220393
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short stature, Stage 5 chronic kidney disease, Hepatic cysts	OMIM:613819
Au-Kline Syndrome	Chronic kidney disease, Dilatation of the renal pelvis, Vesicoureteral reflux, Failure to thrive,...	OMIM:616580
Orthostatic Hypotension 2	Anemia, Decreased glomerular filtration rate	OMIM:618182
Sitosterolemia 1	Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho...	OMIM:210250
Fanconi Anemia, Complementation Group R	Growth delay, Pelvic kidney, Anemia	OMIM:617244
Joubert Syndrome With Oculorenal Defect	Nephropathy, Renal insufficiency	ORPHA:2318
Fryns Syndrome	Omphalocele, Ureteral duplication, Ectopic pancreatic tissue, Renal agenesis, Hypospadias, Large ...	OMIM:229850
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb...	OMIM:614748
Joubert Syndrome With Renal Defect	Nephropathy, Renal insufficiency	ORPHA:220497
Autosomal Recessive Cutis Laxa Type 1	Recurrent urinary tract infections, Severe short stature, Inguinal hernia, Recurrent pneumonia, P...	ORPHA:90349
Overlap Myositis	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormality of...	ORPHA:206572
Jacobsen Syndrome	Death in infancy, Multicystic kidney dysplasia, Inguinal hernia, Short stature, Eczema, Growth de...	ORPHA:2308
Cousin Syndrome	Rhizomelia, Disproportionate short stature, Camptodactyly, Joint contracture of the hand, Wrist f...	OMIM:260660
Galloway-Mowat Syndrome 9	Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, ...	OMIM:619603
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Renal insufficiency, Short stature, Reduced pancreatic beta cells	OMIM:226980
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Portal hypertension, Megacystis, Hepatic failure, Hydronephrosis	OMIM:619431
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Short stature, Unilateral renal agenesis, Renal hypoplasia, Pyelonephritis, ...	OMIM:181270
Acquired Generalized Lipodystrophy	Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Proteinuria, Generalized lipodystrophy, P...	ORPHA:79086
Simpson-Golabi-Behmel Syndrome	Omphalocele, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias...	ORPHA:373
Alg9-Cdg	Omphalocele, Hypoplasia of the bladder, Hepatomegaly, Rhizomelia, Ureteral hypoplasia, Hepatic cy...	ORPHA:79328
Campomelic Dysplasia	Short stature, Hydronephrosis	ORPHA:140
Opitz Gbbb Syndrome	Omphalocele, Inguinal hernia, Hypospadias, Short stature, Congenital diaphragmatic hernia, Patent...	ORPHA:2745
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Anemia, Decreased urinary potassium	OMIM:611489
Orotic Aciduria	Orotic acid crystalluria, Anisocytosis, Folate-unresponsive megaloblastic anemia, Oroticaciduria,...	OMIM:258900
3Mc Syndrome 1	Omphalocele, Postnatal growth retardation, Patent ductus arteriosus, Growth delay, Hydronephrosis	OMIM:257920
Enamel-Renal Syndrome	Renal insufficiency, Abnormal dental enamel morphology, Hypophosphaturia, Impaired renal concentr...	ORPHA:1031
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Renal insufficiency, Renal agenesis, Short stature, Ectopic kidney, Horseshoe kidney, Vesicourete...	ORPHA:140952
Pyomyositis	Recurrent cutaneous abscess formation, Renal insufficiency, Myositis, Leukocytosis, Weight loss	ORPHA:764
Autosomal Recessive Spondylocostal Dysostosis	Inguinal hernia, Hypospadias, Short stature, Congenital diaphragmatic hernia, Camptodactyly of fi...	ORPHA:2311
Humeroradial Synostosis	Renal insufficiency	OMIM:236400
Orofaciodigital Syndrome Type 1	Elevated hepatic transaminase, Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Ab...	ORPHA:2750
Argininemia	Hepatomegaly, Postnatal growth retardation, Micronodular cirrhosis, Hyperammonemia, Cholestasis, ...	OMIM:207800
Degcags Syndrome	Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Reduced blood folate concentratio...	OMIM:619488
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Anuria, Acute colitis, Pneumonia, Pancreatitis, Leukocytosis, Myo...	ORPHA:544482
15q26 overgrowth syndrome	Renal agenesis, Abnormality of the kidney, Camptodactyly of finger, Horseshoe kidney, Duplication...	DECIPHER:81
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic...	OMIM:613159
Malignant Hyperthermia Of Anesthesia	Acute hepatic failure, Elevated creatine kinase after exercise, Hyperkalemia, Hyperphosphatemia, ...	ORPHA:423
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal...	ORPHA:79124
Cerebral Creatine Deficiency Syndrome 2	Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration	OMIM:612736
Cardiofaciocutaneous Syndrome	Failure to thrive in infancy, Hydronephrosis, Short stature	ORPHA:1340
Visceral Myopathy 1	Megacystis, Hydronephrosis, Urinary retention, Vesicoureteral reflux, Pancreatitis	OMIM:155310
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Hepatomegaly, Atrophic gastritis, Chilblains, Pneumonia, Skin ras...	OMIM:615846
Fumarase Deficiency	Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Increased urine succinate level, ...	OMIM:606812
White-Kernohan Syndrome	Hydroureter, Obesity, Horseshoe kidney, Recurrent otitis media, Hydronephrosis	OMIM:619426
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Patent ductus arteriosus, Peritonitis, Megacystis, Pyelonephritis, Fetal megacystis, Rena...	OMIM:619351
Congenital Disorder Of Glycosylation, Type Iiw	Microcytic anemia, Hepatic steatosis, Hepatomegaly, Membranoproliferative glomerulonephritis, Ele...	OMIM:619525
Alveolar Echinococcosis	Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A...	ORPHA:284
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Keratitis, Chronic kidney disease, Stage 5 chronic kidney disease, Weight loss, Hema...	ORPHA:1018
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hepatomegaly, Renal insufficiency, Hip contracture, Proteinu...	OMIM:216400
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Hypercholesterolemia, Hypertriglyceridemia	OMIM:610644
Senior-Loken Syndrome 3	Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis	OMIM:606995
Denys-Drash Syndrome	Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia...	OMIM:194080
Lysosomal Acid Lipase Deficiency	Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy...	ORPHA:275761
Monosomy 22Q13.3	Recurrent skin infections, Obesity, Hydronephrosis, Vesicoureteral reflux, Umbilical hernia, Recu...	ORPHA:48652
Koolen-De Vries Syndrome Due To A Point Mutation	Overfriendliness, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Ecz...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Overfriendliness, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Ecz...	ORPHA:363958
Autosomal Dominant Cutis Laxa	Inguinal hernia, Unilateral renal agenesis, Postnatal growth retardation, Bronchiectasis, Pyelone...	ORPHA:90348
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia, Scrotal hypospadias, Micropenis, Hypospadias	OMIM:250790
Cranioectodermal Dysplasia 4	Recurrent pneumonia, Short stature, Stage 5 chronic kidney disease	OMIM:614378
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery...	OMIM:603902
3-Methylglutaconic Aciduria, Type Viia	3-Methylglutaconic aciduria, Anisopoikilocytosis, Anemia, Neutropenia	OMIM:619835
Trisomy 8P	Multiple joint contractures, Fetal pyelectasis, Annular pancreas, Nephrocalcinosis, Aplasia/Hypop...	ORPHA:264450
Immunoglobulin A Vasculitis	Episcleritis, Glomerulopathy, Renal insufficiency, Proteinuria, Skin rash, Pustule, Orchitis, Hem...	ORPHA:761
Coccidioidomycosis	Renal insufficiency, Pericarditis, Osteomyelitis, Abnormality of the kidney, Eosinophilia, Pneumo...	ORPHA:228123
Exstrophy-Epispadias Complex	Omphalocele, Renal insufficiency, Bladder fistula, Inguinal hernia, Urinary incontinence, Abnorma...	ORPHA:322
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Chronic kidney disease, Stage 5 chronic kidney di...	ORPHA:805
Relapsing Polychondritis	Episcleritis, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, Chondritis of pinna...	ORPHA:728
Fanconi Anemia, Complementation Group D2	Duplicated collecting system, Pancytopenia, Renal agenesis, Small for gestational age, Short stat...	OMIM:227646
Diamond-Blackfan Anemia 1	Macrocytic anemia, Short stature, Congenital hypoplastic anemia, Renal hypoplasia, Reticulocytope...	OMIM:105650
Bladder Exstrophy	Omphalocele, Recurrent urinary tract infections, Hypoplasia of penis, Inguinal hernia, Epispadias...	ORPHA:93930
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin...	ORPHA:231226
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Abnormality of the ureter, Biliary tract abnormality, ...	OMIM:175200
Q Fever	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema...	ORPHA:781
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Cyanosis, Transient Neonatal	Reticulocytosis, Hepatomegaly, Jaundice, Methemoglobinemia, Anemia	OMIM:613977
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Elevated circul...	OMIM:311250
Tempi Syndrome	Polycythemia, Increased hematocrit, Abnormality of the kidney	ORPHA:284227
Mandibuloacral Dysplasia Progeroid Syndrome	Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Proteinuria, Elevated hemoglob...	OMIM:619127
Autosomal Recessive Robinow Syndrome	Death in infancy, Hypoplasia of penis, Multicystic kidney dysplasia, Inguinal hernia, Camptodacty...	ORPHA:1507
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia	ORPHA:90065
Behçet Disease	Glomerulopathy, Renal insufficiency, Myositis, Acne, Increased inflammatory response, Pericarditi...	ORPHA:117
Hermansky-Pudlak Syndrome 1	Renal insufficiency, Colitis, Inflammation of the large intestine	OMIM:203300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Hydronephrosis, Micropenis, Multicystic kidney dysplasia, Elevated circulating creatine kinase co...	OMIM:615287
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short stature, Leukocytosis, Flexion contracture, Renal hypoplasia, Abdominal obesity, Azotemia, ...	OMIM:619321
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ...	ORPHA:846
Dextrocardia	Abnormality of the spleen, Abnormal renal morphology, Abnormality of the ureter, Abnormality of a...	ORPHA:1666
Neuhauser Syndrome	Hypercholesterolemia	OMIM:249310
Renal Nutcracker Syndrome	Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria, Anemia	ORPHA:71273
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hepatic fibrosis, Hypocalcemia, Death in childhood, Micropenis, He...	OMIM:243800
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Urethral stenosis, Me...	OMIM:604292
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Renal Fanconi syndrome, Short stature, Stage 5 chronic kidney disease, Glycosuria	OMIM:268315
Leptospirosis	Hepatomegaly, Pericarditis, Skin rash, Cellular urinary casts, Jaundice, Hepatitis, Uveitis, Hype...	ORPHA:509
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Holoprosencephaly 3	Hydronephrosis	OMIM:142945
Hermansky-Pudlak Syndrome	Renal insufficiency, Neutropenia, Abnormal dental enamel morphology, Weight loss	ORPHA:79430
Beta-Thalassemia Major	Hepatomegaly, Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscu...	ORPHA:231214
Tetrasomy 9P	Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Myositis, Pericarditis, ...	ORPHA:3310
Megalocornea-Intellectual Disability Syndrome	Hypercholesterolemia	ORPHA:2479
Williams-Beuren Syndrome	Flexion contracture, Nephrocalcinosis, Vesicoureteral reflux, Micropenis, Pelvic kidney, Short st...	OMIM:194050
Apert Syndrome	Chronic otitis media, Rhizomelic arm shortening, Acne, Hydronephrosis	OMIM:101200
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Hypospadias, Epispadias, Abnormality of the ureter, Abnormality of the...	ORPHA:3339
Parenteral Nutrition-Associated Cholestasis	Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj...	ORPHA:567983
Chime Syndrome	Hydronephrosis, Abnormality of the kidney, Acute leukemia	ORPHA:3474
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Elevated hepatic transaminase, Severe B lymphocytopenia, Portal hypertension, T...	OMIM:620005
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Short stature, Eczema, Hyperechogenic panc...	OMIM:617052
Wiedemann-Rautenstrauch Syndrome	Wide penis, Vesicoureteral reflux, Dilatation of renal calices, Hepatic steatosis, Loss of facial...	ORPHA:3455
Cranioectodermal Dysplasia 3	Rhizomelia, Short stature, Stage 5 chronic kidney disease, Cirrhosis, Nephronophthisis	OMIM:614099
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Episcleritis, Omphalocele, Inguinal hernia, Hydroureter, Severe short stature, Abnormality of the...	ORPHA:2273
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Inguinal hernia, Hydronephrosis	OMIM:271520
Penile Agenesis	Urethral atresia, male, Hydroureter, Fetal pyelectasis, Bilateral renal hypoplasia, Abnormality o...	ORPHA:49
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Duplicated collecting system, Inguinal hernia, Hydroureter, Renal agenesis, Hydronephrosis, Bladd...	OMIM:129900
Lmna-Related Cardiocutaneous Progeria Syndrome	Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy	ORPHA:363618
Floating-Harbor Syndrome	Hypospadias, Renal agenesis, Small for gestational age, Short stature, Dilatation of the renal pe...	ORPHA:2044
1P36 Deletion Syndrome	Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Short stature, Camptodactyly of fing...	ORPHA:1606
Leprechaunism	Reduced subcutaneous adipose tissue, Hepatomegaly, Postnatal growth retardation, Long penis, Hype...	ORPHA:508
Ellis Van Creveld Syndrome	Hydroureter, Hypospadias, Abnormality of the kidney, Renal hypoplasia/aplasia, Epispadias, Abnorm...	ORPHA:289
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Recurrent skin infections, Scarring, Hiatus hernia, Nephrotic syndrome, Atrophic scars, Distal ar...	OMIM:601776
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Omphalocele, Hydroureter, Hypospadias, Asplenia, Patent ductus arteriosus, Dilatation of the rena...	OMIM:265380
Pierson Syndrome	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Dea...	OMIM:609049
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Umbilical hernia, Neonatal hyperb...	ORPHA:90674
Oeis Complex	Duplicated collecting system, Omphalocele, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal...	OMIM:258040
Lipodystrophy, Familial Partial, Type 6	Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipidemia, Abdominal obes...	OMIM:615980
Low Phospholipid-Associated Cholelithiasis	Hypercholesterolemia	ORPHA:69663
Robinow Syndrome	Multicystic kidney dysplasia, Small for gestational age, Short stature, Umbilical hernia, Webbed ...	ORPHA:97360
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Gaucher Disease	Hepatomegaly, Pancytopenia, Death in infancy, Proteinuria, Short stature, Elevated circulating C-...	ORPHA:355
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Short stature, Elevated amniotic fluid alpha-fetoprotein, Prolonged neonatal jaundice, Severe fai...	ORPHA:423479
Acute Liver Failure	Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, ...	ORPHA:90062
Glutaryl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Chronic kidney disease	ORPHA:25
Serotonin Syndrome	Acute kidney injury, Hepatic failure	ORPHA:43116
Anemia, Congenital Dyserythropoietic, Type Iiia	Hemosiderinuria, Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemi...	OMIM:105600
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy...	ORPHA:466650
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the ureter, Abnormal dental enamel morphology	ORPHA:3253
Neurooculorenal Syndrome	Hypoplasia of the bladder, Unilateral renal agenesis, Conjugated hyperbilirubinemia, Postnatal gr...	OMIM:620305
Rubinstein-Taybi Syndrome 1	Accessory spleen, Hypospadias, Small for gestational age, Short stature, Postnatal growth retarda...	OMIM:180849
Osteogenesis Imperfecta, Type Vii	Death in infancy, Rhizomelia, Short stature, Hydronephrosis, Dentinogenesis imperfecta	OMIM:610682
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Vesicoureteral reflux, Growth delay, Hydronephrosis	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Vesicoureteral reflux, Growth delay, Hydronephrosis	ORPHA:352665
Mckusick-Kaufman Syndrome	Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia	OMIM:236700
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Short stature, Patent ductus arteriosus, Hypercalciuria, Nephrocalcinosis, Elliptocytosis, Renal ...	OMIM:300990
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Griscelli Syndrome	Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Leuko...	ORPHA:381
Charge Syndrome	Short stature, Postnatal growth retardation, Patent ductus arteriosus, Horseshoe kidney, Delayed ...	ORPHA:138
Gaucher Disease Type 3	Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Hematuria, Anemia, Growth delay, Delayed p...	ORPHA:77261
Knobloch Syndrome 1	Duplicated collecting system, Patent ductus arteriosus, Bifid ureter, Hydronephrosis, Renal dupli...	OMIM:267750
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Weight loss, Growth delay, Reduced proportion of CD4+ effector memory T cell...	ORPHA:90362
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc...	ORPHA:3202
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Floating-Harbor Syndrome	Inguinal hernia, Hypospadias, Short stature, Glandular hypospadias, Atopic dermatitis, Nephrocalc...	OMIM:136140
Hereditary Methemoglobinemia	Methemoglobinemia, Small for gestational age	ORPHA:621
Mesomelia-Synostoses Syndrome	Mesomelic short stature, Hydronephrosis	OMIM:600383
Hydrolethalus Syndrome 1	Accessory spleen, Omphalocele, Hypospadias, Stillbirth, Intrauterine growth retardation, Hydronep...	OMIM:236680
Agel Amyloidosis	Keratoconjunctivitis sicca, Abnormal spleen morphology, Proteinuria, Stage 5 chronic kidney disease	ORPHA:85448
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Meckel Syndrome, Type 1	Accessory spleen, Hypoplasia of the bladder, Omphalocele, Renal agenesis, Camptodactyly of finger...	OMIM:249000
Wiskott-Aldrich Syndrome	Abnormal eosinophil morphology, Sinusitis, Microcytic anemia, Inflammation of the large intestine...	ORPHA:906
Hb Bart'S Hydrops Fetalis	Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia	ORPHA:163596
Subaortic Stenosis-Short Stature Syndrome	Inguinal hernia, Acne, Short stature, Biliary tract abnormality, Obesity, Abnormal circulating li...	ORPHA:3191
Coffin-Siris Syndrome 1	Inguinal hernia, Hydroureter, Hypospadias, Short stature, Congenital diaphragmatic hernia, Ectopi...	OMIM:135900
Arboleda-Tham Syndrome	Recurrent urinary tract infections, Patent ductus arteriosus, Growth delay, Recurrent otitis medi...	OMIM:616268
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Inguinal hernia, Hypospadias, Short stature, ...	ORPHA:709
Igg4-Related Submandibular Gland Disease	Renal insufficiency, Eosinophilia, Abnormality of the kidney, Cholangitis, Retroperitoneal fibros...	ORPHA:449432
Scorpion Envenomation	Acute pancreatitis, Increased circulating NT-proBNP concentration, Ketonuria, Elevated circulatin...	ORPHA:466677
Doors Syndrome	Increased urine alpha-ketoglutarate concentration, Nephrocalcinosis, Abnormality of the urinary s...	ORPHA:79500
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Severe short stature, Abnormality of the kidney, Abnormality of the upper urinary tr...	ORPHA:2636
Diamond-Blackfan Anemia 6	Macrocytic anemia, Patent ductus arteriosus, Persistence of hemoglobin F, Growth delay, Increased...	OMIM:612561
Adult-Onset Still Disease	Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Elevated circ...	ORPHA:829
Osteopetrosis, Autosomal Recessive 3	Extramedullary hematopoiesis, Short stature, Hepatosplenomegaly, Distal renal tubular acidosis, A...	OMIM:259730
Peters-Plus Syndrome	Ureteral duplication, Hypospadias, Bilobate gallbladder, Rhizomelia, Postnatal growth retardation...	OMIM:261540
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer...	OMIM:606721
Campomelic Dysplasia	Hypospadias, Contracture of the distal interphalangeal joint of the fingers, Neonatal short-limb ...	OMIM:114290
Lacrimoauriculodentodigital Syndrome	Abnormal dental enamel morphology, Patent ductus arteriosus, Renal hypoplasia, Keratoconjunctivit...	ORPHA:2363
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Skin rash, Camptodactyly of finger, Keratitis, Spl...	ORPHA:90340
Townes-Brocks Syndrome	Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,...	ORPHA:857
Joubert Syndrome 5	Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal cortical cysts, Nephr...	OMIM:610188
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Flexion contracture, W...	ORPHA:1979
Charge Syndrome	Omphalocele, Renal agenesis, Postnatal growth retardation, Patent ductus arteriosus, Renal hypopl...	OMIM:214800
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Eczema, Recurrent pneumonia, Hypocalcemia, Umbilical hernia, Hydronephrosis	OMIM:620330
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Chylomicron Retention Disease	Elevated hepatic transaminase, Hypertriglyceridemia, Acanthocytosis, Growth delay, Abnormality of...	ORPHA:71
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Orofaciodigital Syndrome Type 3	Stage 5 chronic kidney disease	ORPHA:2752
Cornelia De Lange Syndrome	Renal insufficiency, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Short statur...	ORPHA:199
Congenital Disorder Of Glycosylation, Type Iiq	Elevated hepatic transaminase, Abnormal glycosylation, Decreased circulating ceruloplasmin concen...	OMIM:617395
Robinow Syndrome, Autosomal Dominant 1	Inguinal hernia, Rhizomelia, Short stature, Umbilical hernia, Micropenis, Hydronephrosis, Renal d...	OMIM:180700
Cardiac Valvular Dysplasia 1	Urethral diverticulum, Inguinal hernia, Hydroureter, Hydronephrosis	OMIM:212093
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Hypoplasia of penis, Urethrovaginal fistula, Congenital hepatic fibrosis, Renal hypo...	ORPHA:93271
Erythrocytosis, Familial, 1	Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin	OMIM:133100
Focal Dermal Hypoplasia	Omphalocele, Ureteral duplication, Inguinal hernia, Short stature, Congenital diaphragmatic herni...	OMIM:305600
Leukocyte Adhesion Deficiency	Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Short sta...	ORPHA:2968
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Renal cell carcinoma, Multiple renal cysts, Hepatic h...	OMIM:193300
Bardet-Biedl Syndrome 20	Hypercholesterolemia	OMIM:619471
Acrorenal-Mandibular Syndrome	Renal agenesis, Congenital diaphragmatic hernia, Abnormality of the ureter, Elbow flexion contrac...	OMIM:200980
African Trypanosomiasis	Hepatomegaly, Renal insufficiency, Pericarditis, Miscarriage, Urinary incontinence, Keratitis, Sp...	ORPHA:3385
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Hypospadias, Short stature, Phimosis, Thrombocytopenia, Ure...	OMIM:305000
Otopalatodigital Syndrome, Type Ii	Omphalocele, Hypospadias, Short stature, Elbow contracture, Postnatal growth retardation, Stillbi...	OMIM:304120
Simpson-Golabi-Behmel Syndrome, Type 1	Hepatomegaly, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Splenomegaly, Patent...	OMIM:312870
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Short stature, Renal hypoplasia/aplasia, Abnormal renal morphology, Hydronephrosis	ORPHA:363700
Immunodeficiency 47	Hypercholesterolemia, Decreased circulating copper concentration	OMIM:300972
Townes-Brocks Syndrome 1	Renal insufficiency, Multicystic kidney dysplasia, Hypospadias, Urethral valve, Small for gestati...	OMIM:107480
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Renal agenesis, Ectopic kidney, Patent ductus arteriosus, Vesicoure...	OMIM:164210
Erythrocytosis, Familial, 2	Increased red blood cell mass, Failure to thrive, Increased hematocrit, Increased hemoglobin	OMIM:263400
Familial Osteodysplasia, Anderson Type	Hyperuricemia	ORPHA:2769
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Hiatus hernia, Overweight, Patent ductus arteriosus, Recurrent pneumonia, Persistence of hemoglob...	OMIM:619769
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Osteomyelitis, Chronic kidney disease, Corneal scarring, Growth delay, Atypical scarri...	ORPHA:642
Livedoid Vasculopathy	Pancytopenia, Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections,...	ORPHA:542643
Secondary Short Bowel Syndrome	Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Growth delay, ...	ORPHA:95427
Erythrocytosis, Familial, 8	Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:222800
Erythrocytosis, Familial, 3	Increased red blood cell mass, Increased hematocrit, Increased hemoglobin	OMIM:609820
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Mowat-Wilson Syndrome	Urinary incontinence, Asplenia, Flexion contracture, Vesicoureteral reflux, Webbed penis, Micrope...	ORPHA:2152
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Renal dysplasia, Short stature, Cyst of the ductus choledochus, Patent ductus arteriosus, Delayed...	ORPHA:480880
Erythrocytosis, Familial, 4	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:611783
Hereditary Arterial And Articular Multiple Calcification Syndrome	Decreased serum creatinine	ORPHA:289601
Tbck-Related Intellectual Disability Syndrome	Neurogenic bladder, Abnormal circulating lipid concentration, Eczema	ORPHA:488632
Erythrocytosis, Familial, 5	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617907
Costello Syndrome	Renal insufficiency, Failure to thrive, Short stature, Achilles tendon contracture	OMIM:218040
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala...	ORPHA:79302
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F, Short stature	OMIM:617101
Erythrocytosis, Familial, 6	Increased hematocrit, Polycythemia, Increased hemoglobin	OMIM:617980
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Short stature...	ORPHA:261537
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Recurrent sinusitis, Neutropenia,...	OMIM:618849
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Knee flexion contracture, Micropenis, Hydronephrosis	OMIM:606170
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Alström Syndrome	Urinary incontinence, Functional abnormality of the bladder, Hepatic fibrosis, Otitis media, Micr...	ORPHA:64
Viss Syndrome	Chronic gastritis, Inguinal hernia, Short stature, Eczema, Patent ductus arteriosus, Hypereosinop...	OMIM:619472
Cystinosis, Adult Nonnephropathic	Elevated circulating creatinine concentration	OMIM:219750
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Multicystic kidney dysplasia, Failure to thrive, Hypospadias, Urinary incontinence, Short stature...	ORPHA:261552
Erythrocytosis, Familial, 7	Increased hematocrit, Polycythemia	OMIM:617981
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Growth delay, Methemoglobinemia, Polycythemia	OMIM:250800
Primary Biliary Cholangitis	Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Hepatic failure, Biliary cirrhosis,...	ORPHA:186
Congenital Tracheal Stenosis	Patent ductus arteriosus, Abnormality of the ureter, Abnormality of the kidney	ORPHA:141127
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Steinert Myotonic Dystrophy	Hypercholesterolemia	ORPHA:273
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Autoi...	ORPHA:77293
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Homozygous Familial Hypercholesterolemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia	ORPHA:391665

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 Mocos

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 Mocos.

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

Title	Journal	IMPC Allele	PubMed ID
Deletion of Mocos Induces Xanthinuria with Obstructive Nephropathy and Major Metabolic Disorders in Mice.	Kidney360 (September 2021)	Mocos^em2(IMPC)Ics	PMC8785848

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MGI Allele	Allele Type	Produced
Mocos^{tm79998(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Mocos^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Mocos^em2(IMPC)Ics	Deletion	Mice

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: Mocos MGI:1915841

Gene Summary

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IMPC Phenotype Summary

Phenotypes

lacZ Expression

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X-ray

Immunophenotyping

Immunophenotyping

Human diseases caused by Mocos mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data