Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
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Abnormal renal tubule morphology, Renal insufficiency, Hyperuricemia, Multiple glomerular cysts |
OMIM:609886 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
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Renal tubular atrophy, Hyperuricemia, Hyperechogenic kidneys, Renal hypoplasia, Proteinuria, Foca... |
OMIM:613092 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
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Increased phosphoribosylpyrophosphate synthetase level, Uric acid nephrolithiasis, Crystalluria, ... |
ORPHA:411536 |
Xanthinuria, Type Ii |
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Hyperxanthinemia, Increased urinary hypoxanthine, Hypouricemia, Xanthinuria, Renal insufficiency,... |
OMIM:603592 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
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Renal tubular atrophy, Hyperuricemia, Nephritis, Nephropathy, Decreased glomerular filtration rat... |
OMIM:162000 |
Glycogen Storage Disease V |
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Myoglobinuria, Dark urine, Hyperuricemia, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Lesch-Nyhan Syndrome |
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Renal insufficiency, Hyperuricemia, Hematuria |
ORPHA:510 |
Glycine N-Methyltransferase Deficiency |
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Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Glycogen Storage Disease Ixa1 |
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Hyperuricemia, Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceri... |
OMIM:306000 |
Hereditary Xanthinuria |
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Uric acid nephrolithiasis, Sulfite oxidase deficiency, Crystalluria, Recurrent urinary tract infe... |
ORPHA:3467 |
Glycogen Storage Disease Vii |
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Increased total bilirubin, Hyperuricemia, Exercise-induced myoglobinuria, Jaundice, Cholelithiasis |
OMIM:232800 |
Burkitt Lymphoma |
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Increased circulating lactate dehydrogenase concentration, Abnormality of the ovary, Abnormality ... |
ORPHA:543 |
Renal Cysts And Diabetes Syndrome |
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Abnormality of alkaline phosphatase level, Elevated hepatic transaminase, Biliary tract abnormali... |
OMIM:137920 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
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Hyperuricemia, Renal cyst, Nephropathy, Elevated circulating creatinine concentration, Focal segm... |
OMIM:617056 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
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Hyperuricemia, Decreased plasma carnitine, Increased level of 3-hydroxy-3-methylglutaric acid in ... |
OMIM:246450 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
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Elevated hepatic transaminase, Abnormal tubulointerstitial morphology, Nephropathy, Cholestatic l... |
OMIM:602114 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
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Uric acid nephrolithiasis, Hyperuricemia, Acute kidney injury, Dysuria, Nephropathy, Macroscopic ... |
ORPHA:79233 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Glomerulopathy, Hypothyroidism, Multicystic kidney dysplasia, Hyperuricemia, Aplasia/Hypoplasia o... |
ORPHA:93111 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
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Increased phosphoribosylpyrophosphate synthetase level, Uric acid nephrolithiasis, Crystalluria, ... |
ORPHA:411543 |
Hyperuricemia, Hprt-Related |
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Renal insufficiency, Hyperuricemia, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Lipodystrophy, Familial Partial, Type 3 |
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Cirrhosis, Hyperuricemia, Oligomenorrhea, Hepatic steatosis, Polycystic ovaries, Hirsutism, Decre... |
OMIM:604367 |
Cystinuria |
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Renal insufficiency, Hyperuricemia, Hematuria, Nephrolithiasis |
ORPHA:214 |
Hypomagnesemia 3, Renal |
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Hyperuricemia, Hypocitraturia, Hypercitraturia, Recurrent urinary tract infections, Hypermagnesiu... |
OMIM:248250 |
Distal 16P11.2 Microdeletion Syndrome |
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Vesicoureteral reflux, Hyperuricemia, Abnormality of the kidney, Renal agenesis, Proteinuria, Low... |
ORPHA:261222 |
Medullary cystic kidney disease 2 |
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Renal tubular atrophy, Tubulointerstitial nephritis, Multiple small medullary renal cysts, Hyperu... |
OMIM:603860 |
Hypouricemia, Renal, 1 |
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Renal cortical hyperechogenicity, Urolithiasis, Uric acid nephrolithiasis, Acute kidney injury, R... |
OMIM:220150 |
Lactic Acidosis, Chronic Adult Form |
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Hyperuricemia |
OMIM:150170 |
Hereditary Renal Hypouricemia |
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Acute kidney injury, Abnormal renal tubule morphology, Hematuria, Abnormal renal physiology, Hype... |
ORPHA:94088 |
Glycogen Storage Disease Ixb |
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Increased hepatic glycogen content, Hyperuricemia, Hepatomegaly |
OMIM:261750 |
Alstrom Syndrome |
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Tubulointerstitial nephritis, Alopecia, Irregular menstruation, Hyperuricemia, Decreased response... |
OMIM:203800 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Aminoaciduria, Glycosuria, Hyperphosphaturia, Hypophosphatemia, Elevated hepatic transaminase, El... |
OMIM:616026 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Hyperuricemia, Renal salt wasting, Increased blood urea nitrogen, Polyuria, Hyponatremia, Protein... |
OMIM:613845 |
Pparg-Related Familial Partial Lipodystrophy |
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Cirrhosis, Hyperuricemia, Secondary amenorrhea, Oligomenorrhea, Hepatic steatosis, Polycystic ova... |
ORPHA:79083 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
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Impaired renal concentrating ability, Abnormal renal insterstitial morphology, Renal insufficienc... |
OMIM:614227 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Renal tubular atrophy, Tubulointerstitial nephritis, Hyperuricemia, Stage 5 chronic kidney diseas... |
OMIM:174000 |
Interstitial Nephritis, Karyomegalic |
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Tubulointerstitial nephritis, Renal interstitial fibrosis, Renal tubular cyst, Glycosuria, Stage ... |
OMIM:614817 |
Lesch-Nyhan Phenotype With Normal Hgprt |
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Hyperuricemia |
OMIM:308950 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
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Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Hereditary Fructose Intolerance |
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Reduced circulating aldolase concentration, Hyperuricemia, Jaundice, Hypophosphatemia, Chronic he... |
ORPHA:469 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
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Hyperuricemia |
ORPHA:371 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
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Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
Glycogen Storage Disease Ia |
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Hyperuricemia, Enlarged kidney, Elevated hepatic transaminase, Hepatocellular carcinoma, Decrease... |
OMIM:232200 |
Fructose-1,6-Bisphosphatase Deficiency |
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Hyperuricemia, Hyperalaninemia, Elevated hepatic transaminase, Abnormal circulating enzyme concen... |
ORPHA:348 |
Fructose Intolerance, Hereditary |
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Transient aminoaciduria, Cirrhosis, Proximal tubulopathy, Hyperuricemia, Glycosuria, Jaundice, Hy... |
OMIM:229600 |
Glycogen Storage Disease Ib |
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Hyperuricemia, Enlarged kidney, Elevated hepatic transaminase, Hepatocellular carcinoma, Decrease... |
OMIM:232220 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
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Elevated circulating alanine aminotransferase concentration, Jaundice, Hyperbilirubinemia, Elevat... |
OMIM:620010 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
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Hypercalciuria, Hypouricemia |
OMIM:242050 |
Galactosemia I |
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Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Increased ... |
OMIM:230400 |
Molybdenum Cofactor Deficiency, Complementation Group A |
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Sulfite oxidase deficiency, Increased urinary taurine, Increased urinary thiosulfate, Reduced xan... |
OMIM:252150 |
Combined Deficiency Of Factor V And Factor Viii |
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Menorrhagia, Hyperuricemia, Hematuria, Hyperlipidemia |
ORPHA:35909 |
Morgagni-Stewart-Morel Syndrome |
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Hypothyroidism, Hyperuricemia, Hirsutism, Hypercholesterolemia |
ORPHA:77296 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Hyperphosphatemia, Hyperuricemia, Hydroxyprolinuria, Elevated circulating alkaline phosphatase co... |
OMIM:239000 |
Fanconi-Bickel Syndrome |
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Glycosuria, Hyperphosphaturia, Hypophosphatemia, Hypokalemia, Generalized aminoaciduria, Elevated... |
OMIM:227810 |
Juvenile Nephropathic Cystinosis |
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Abnormal urine potassium concentration, Aminoaciduria, Hypocalcemic tetany, Hypothyroidism, Low-m... |
ORPHA:411634 |
Congenital Disorder Of Glycosylation, Type Iip |
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Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... |
OMIM:616829 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
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Hyperuricemia |
OMIM:240000 |
Dent Disease 2 |
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Aminoaciduria, Elevated circulating alanine aminotransferase concentration, Proximal tubulopathy,... |
OMIM:300555 |
Neuroleptic Malignant Syndrome |
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Urinary incontinence, Hyperphosphatemia, Hyperuricemia, Hyperhidrosis, Acute kidney injury, Hyper... |
ORPHA:94093 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
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Increased phosphoribosylpyrophosphate synthetase level, Urolithiasis, Uric acid nephrolithiasis, ... |
OMIM:300661 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hypothyroidism, Hepatocellular carcinoma, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, ... |
ORPHA:79259 |
Gilbert Syndrome |
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Unconjugated hyperbilirubinemia, Jaundice, Hepatic failure, Elevated hepatic transaminase |
OMIM:143500 |
Lesch-Nyhan Syndrome |
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Hyperuricemia, Testicular atrophy, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria |
OMIM:300322 |
Hypouricemia, Renal, 2 |
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Nephrolithiasis, Hypouricemia |
OMIM:612076 |
Molybdenum Cofactor Deficiency, Complementation Group C |
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Sulfite oxidase deficiency, Increased urinary taurine, Hypertaurinemia, Molybdenum cofactor defic... |
OMIM:615501 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Hyperuricemia, Ketonuria, Jaundice, Elevated hepatic transaminase, Acute pancreatitis, Hyperammon... |
ORPHA:20 |
Primary Fanconi Renotubular Syndrome |
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Renal phosphate wasting, Hyperuricosuria, Stage 5 chronic kidney disease, Renal sodium wasting, G... |
ORPHA:3337 |
Glycogen Storage Disease Vi |
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Hypercholesterolemia, Elevated hepatic transaminase, Increased hepatic glycogen content, Hyperlip... |
OMIM:232700 |
Late-Onset Isolated Acth Deficiency |
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Hyperuricemia, Hepatitis, Premature ovarian insufficiency, Decreased circulating cortisol level, ... |
ORPHA:199299 |
Hemochromatosis, Type 2B |
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Hepatic fibrosis, Cirrhosis, Hypogonadism, Secondary amenorrhea, Elevated transferrin saturation,... |
OMIM:613313 |
Acute Adrenal Insufficiency |
|
Hyperuricemia, Decreased circulating aldosterone level, Decreased female libido, Sparse axillary ... |
ORPHA:95409 |
Wilson Disease |
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Aminoaciduria, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Hepatocellul... |
OMIM:277900 |
Juvenile Paget Disease |
|
Hyperuricemia |
ORPHA:2801 |
Preeclampsia |
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Acute kidney injury, Abnormality of the kidney, Elevated hepatic transaminase, Polycystic ovaries... |
ORPHA:275555 |
Addison Disease |
|
Hyperuricemia, Primary testicular failure, Decreased circulating aldosterone level, Decreased fem... |
ORPHA:85138 |
Glycogen Storage Disease Ic |
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Hyperuricemia, Chronic pancreatitis, Hepatocellular carcinoma, Hematuria, Hepatoblastoma, Decreas... |
OMIM:232240 |
Citrullinemia, Type Ii, Adult-Onset |
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Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Argininosuccinic a... |
OMIM:603471 |
Beta-Ketothiolase Deficiency |
|
Hyperammonemia, Hyperuricemia, Hepatomegaly, Ketonuria |
ORPHA:134 |
Hemochromatosis Type 2 |
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Abnormality of iron homeostasis, Impotence, Hypogonadism, Abnormality of endocrine pancreas physi... |
ORPHA:79230 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Elevated gamma-glutamyltransf... |
OMIM:614480 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
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Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Increased serum bile acid conc... |
OMIM:147480 |
Xanthinuria, Type I |
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Reduced xanthine dehydrogenase level, Pyelonephritis, Xanthine nephrolithiasis, Hyperxanthinemia,... |
OMIM:278300 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatic failure, Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubi... |
OMIM:616278 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Elevated circulating alkaline phosphatase con... |
OMIM:214900 |
Molybdenum Cofactor Deficiency, Complementation Group B |
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Increased urinary taurine, Xanthine nephrolithiasis, Increased urinary hypoxanthine, Increased ur... |
OMIM:252160 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
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Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac... |
OMIM:615160 |
Biliary Atresia, Extrahepatic |
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Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc... |
OMIM:210500 |
Carnitine Palmitoyltransferase I Deficiency |
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Elevated circulating alanine aminotransferase concentration, Renal tubular acidosis, Elevated hep... |
OMIM:255120 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,... |
ORPHA:79303 |
Bile Acid Conjugation Defect 1 |
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Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ... |
OMIM:619232 |
Hemochromatosis, Type 3 |
|
Cirrhosis, Impotence, Elevated transferrin saturation, Elevated hepatic transaminase, Increased c... |
OMIM:604250 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Hepatorenocardiac Degenerative Fibrosis |
|
Cirrhosis, Renal interstitial fibrosis, Enlarged kidney, Jaundice, Elevated hepatic transaminase,... |
OMIM:619902 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... |
OMIM:619662 |
Gaisböck Syndrome |
|
Hyperuricemia, Hypernatriuria, Increased circulating renin level, Cholecystitis, Hypercholesterol... |
ORPHA:90041 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentration, Elevated hepat... |
ORPHA:94086 |
Cockayne Syndrome |
|
Urinary incontinence, Dry hair, Hyperuricemia, Nephrotic syndrome, Neurogenic bladder, Anhidrosis... |
ORPHA:191 |
Protoporphyria, Erythropoietic, X-Linked |
|
Increased erythrocyte protoporphyrin concentration, Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperargininemia, Hypercholesterolemia, Conjugated hyperbilirubinemia, Hyperthreo... |
OMIM:605814 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Elevated circulating alanine aminotransferase concentration, Micr... |
OMIM:613070 |
Tyrosinemia, Type Iii |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Elevated hepat... |
OMIM:276710 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice... |
ORPHA:79302 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Aminoaciduria, Renal tubular acidosis, Glycosuria, Jaundice, Elevated hepatic transaminase, Nephr... |
OMIM:613404 |
Gallbladder Disease 1 |
|
Hepatic fibrosis, Cholesterol gallstones, Jaundice, Pancreatitis, Elevated hepatic transaminase, ... |
OMIM:600803 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Porphyrinuria, Periportal fibrosis, Decreased circu... |
ORPHA:101330 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe... |
OMIM:602347 |
Genetic Recurrent Myoglobinuria |
|
Hyperphosphatemia, Acute kidney injury, Exercise-induced myoglobinuria, Highly elevated creatine ... |
ORPHA:99845 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Periportal fibrosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulatin... |
OMIM:619484 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Hepatic failure, Hyperalaninemia, Ketonuria, Increased urine alph... |
OMIM:619355 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Irregular menstruation, Hepatic fibrosis, Cirrhosis, Hypertriglyceridemia, ... |
ORPHA:370 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Intrahepatic choles... |
OMIM:235555 |
Isolated Biliary Atresia |
|
Atretic gallbladder, Cirrhosis, Hypothyroidism, Periportal fibrosis, Dark yellow urine, Jaundice,... |
ORPHA:30391 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased serum bile acid con... |
OMIM:214950 |
Purine Nucleoside Phosphorylase Deficiency |
|
Increased circulating guanosine concentration, Increased circulating inosine concentration, Hypou... |
OMIM:613179 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased urinary urate, Hypouricemia |
ORPHA:760 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic... |
OMIM:607765 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Elevated hepatic transaminase, Hyperlipidemia, Ketonuria |
ORPHA:2089 |
Familial Osteodysplasia, Anderson Type |
|
Thick eyebrow, Hyperuricemia |
ORPHA:2769 |
Alport Syndrome 3, Autosomal Dominant |
|
Glomerular basement membrane lamellation, Nephrotic syndrome, Stage 5 chronic kidney disease, Azo... |
OMIM:104200 |
Low Phospholipid-Associated Cholelithiasis |
|
Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c... |
ORPHA:69663 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Abnormal erythrocyte enzyme level, Hypouricemia |
ORPHA:1187 |
Senior-Boichis Syndrome |
|
Abnormal renal insterstitial morphology, Elevated hepatic transaminase, Malformation of the hepat... |
ORPHA:84081 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Jaundice, Elevated hepatic tra... |
ORPHA:567983 |
Primary Hyperoxaluria Type 3 |
|
Pollakisuria, Calcium oxalate nephrolithiasis, Dysuria, Abnormality of urine homeostasis, Hematur... |
ORPHA:93600 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypermethioninemia, Hepatic failure, Cirrhosis, Microvesicular hepatic steatosis, Jaundice, 4-hyd... |
OMIM:617156 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Decreased transferrin saturation, Azoospermi... |
ORPHA:300298 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating alanine aminotransferase concentration, Elevated circulating uracil concentr... |
OMIM:311250 |
Lysinuric Protein Intolerance |
|
Hyperlysinuria, Ornithinuria, Elevated hepatic transaminase, Hepatosplenomegaly, Glomerulonephrit... |
ORPHA:470 |
Mirizzi Syndrome |
|
Cholesterol gallstones, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Pancreatitis... |
ORPHA:521219 |
Eisenmenger Syndrome |
|
Hyperuricemia, Abnormality of the liver, Abnormal B-type natriuretic peptide concentration, Eleva... |
ORPHA:97214 |
Caroli Syndrome |
|
Cirrhosis, Hepatic failure, Periportal fibrosis, Liver abscess, Abnormality of the kidney, Jaundi... |
ORPHA:480520 |
Tyrosinemia, Type I |
|
Hypermethioninemia, Cirrhosis, Hepatic failure, Renal Fanconi syndrome, Enlarged kidney, Elevated... |
OMIM:276700 |