Glomerulocystic kidney disease with hyperuricemia and isosthenuria |
|
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology |
OMIM:609886 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Mild Phosphoribosylpyrophosphate Synthetase Superactivity |
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Crystalluria, Renal insufficiency, Acute kidney injury, Hyperuricosuria, Hyperuricemia, Uric acid... |
ORPHA:411536 |
Xanthinuria, Type Ii |
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Renal insufficiency, Hypouricemia, Xanthinuria, Nephrolithiasis, Hyperxanthinemia, Increased urin... |
OMIM:603592 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
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Renal insufficiency, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glom... |
OMIM:162000 |
Glycogen Storage Disease V |
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Dark urine, Hyperuricemia, Myoglobinuria, Elevated circulating creatine kinase concentration |
OMIM:232600 |
Lesch-Nyhan Syndrome |
|
Hematuria, Renal insufficiency, Hyperuricemia |
ORPHA:510 |
Glycogen Storage Disease Vii |
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Increased circulating lactate dehydrogenase concentration, Elevated circulating creatine kinase c... |
OMIM:232800 |
Glycine N-Methyltransferase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
Glycogen Storage Disease Ixa1 |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperuricemia, Hypercholestero... |
OMIM:306000 |
Hereditary Xanthinuria |
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Crystalluria, Recurrent urinary tract infections, Reduced xanthine dehydrogenase level, Xanthine ... |
ORPHA:3467 |
Burkitt Lymphoma |
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Hyperuricemia, Abnormality of the liver, Increased circulating lactate dehydrogenase concentratio... |
ORPHA:543 |
Renal Cysts And Diabetes Syndrome |
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Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... |
OMIM:137920 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
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Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... |
OMIM:617056 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
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Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch... |
OMIM:602114 |
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency |
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Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... |
ORPHA:79233 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
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Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Absent vas deferens,... |
ORPHA:93111 |
Severe Phosphoribosylpyrophosphate Synthetase Superactivity |
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Crystalluria, Renal insufficiency, Hyperuricosuria, Hyperuricemia, Uric acid nephrolithiasis, Inc... |
ORPHA:411543 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
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Hepatomegaly, Increased level of hippuric acid in urine, Glutaric aciduria, Hyperammonemia, 3-Met... |
OMIM:246450 |
Hyperuricemia, Hprt-Related |
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Hyperuricemia, Renal insufficiency, Nephrolithiasis, Hyperuricosuria |
OMIM:300323 |
Lipodystrophy, Familial Partial, Type 3 |
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Decreased HDL cholesterol concentration, Hypertriglyceridemia, Primary amenorrhea, Polycystic ova... |
OMIM:604367 |
Distal 16P11.2 Microdeletion Syndrome |
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Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Low anterior hair... |
ORPHA:261222 |
Cystinuria |
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Hematuria, Hyperuricemia, Renal insufficiency, Nephrolithiasis |
ORPHA:214 |
Hypomagnesemia 3, Renal |
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Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Medullary cystic kidney disease 2 |
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Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia... |
OMIM:603860 |
Hypouricemia, Renal, 1 |
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Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Lactic Acidosis, Chronic Adult Form |
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Hyperuricemia |
OMIM:150170 |
Hereditary Renal Hypouricemia |
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Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Glycogen Storage Disease Ixb |
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Hepatomegaly, Increased hepatic glycogen content, Hyperuricemia |
OMIM:261750 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
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Elevated hepatic transaminase, Hepatomegaly, Hyperphosphaturia, Proteinuria, Hypouricemia, Hypoph... |
OMIM:616026 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... |
OMIM:613845 |
Pparg-Related Familial Partial Lipodystrophy |
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Hepatomegaly, Hypertriglyceridemia, Dysmenorrhea, Generalized hirsutism, Polycystic ovaries, Seco... |
ORPHA:79083 |
Fanconi-Bickel Syndrome |
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Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Elevated circulating aspar... |
OMIM:227810 |
Alstrom Syndrome |
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Elevated hepatic transaminase, Decreased HDL cholesterol concentration, Renal insufficiency, Hype... |
OMIM:203800 |
Hyperuricemic Nephropathy, Familial Juvenile, 3 |
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Impaired renal concentrating ability, Renal insufficiency, Abnormal renal insterstitial morpholog... |
OMIM:614227 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
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Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Lesch-Nyhan Phenotype With Normal Hgprt |
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Hyperuricemia |
OMIM:308950 |
Interstitial Nephritis, Karyomegalic |
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Elevated hepatic transaminase, Renal tubular cyst, Proteinuria, Elevated circulating creatinine c... |
OMIM:614817 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
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Renal insufficiency, Hyperuricemia |
ORPHA:3222 |
Hereditary Fructose Intolerance |
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Hepatomegaly, Renal insufficiency, Reduced circulating aldolase concentration, Episodic hyperhidr... |
ORPHA:469 |
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
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Hyperuricemia |
ORPHA:371 |
Fructose Intolerance, Hereditary |
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Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Jaundice... |
OMIM:229600 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
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Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Glycogen Storage Disease Ia |
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Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal ... |
OMIM:232200 |
Fructose-1,6-Bisphosphatase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
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Hepatomegaly, Proteinuria, Elevated circulating aspartate aminotransferase concentration, Conjuga... |
OMIM:620010 |
Glycogen Storage Disease Ib |
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Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Pancreatic fibrosis, Hyperlipidemia, Ne... |
OMIM:232220 |
Molybdenum Cofactor Deficiency, Complementation Group A |
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Reduced xanthine dehydrogenase level, Molybdenum cofactor deficiency, Xanthine nephrolithiasis, H... |
OMIM:252150 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
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Hypouricemia, Hypercalciuria |
OMIM:242050 |
Galactosemia I |
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Hepatomegaly, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Elevated circulati... |
OMIM:230400 |
Morgagni-Stewart-Morel Syndrome |
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Hypercholesterolemia, Hypothyroidism, Hyperuricemia, Hirsutism |
ORPHA:77296 |
Combined Deficiency Of Factor V And Factor Viii |
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Hematuria, Hyperlipidemia, Menorrhagia, Hyperuricemia |
ORPHA:35909 |
Paget Disease Of Bone 5, Juvenile-Onset |
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Increased urine deoxypyridinoline level, Hydroxyprolinemia, Hypercalciuria, Elevated circulating ... |
OMIM:239000 |
Juvenile Nephropathic Cystinosis |
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Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... |
ORPHA:411634 |
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase |
|
Hyperuricemia |
OMIM:240000 |
Congenital Disorder Of Glycosylation, Type Iip |
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Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated hepatic transaminase, Proteinuria, Urinary incontinence, Elevated circulat... |
ORPHA:94093 |
Dent Disease 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating aspartate aminotransfera... |
OMIM:300555 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Nephrocalcinosis, Hepatic steatosis, Hypothyroidism, Tubulointerstitial fibrosis, Hepatomegaly, I... |
ORPHA:79259 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
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Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, Hyperuricemia, S... |
OMIM:300661 |
Gilbert Syndrome |
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Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia |
OMIM:143500 |
Hypouricemia, Renal, 2 |
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Hypouricemia, Nephrolithiasis |
OMIM:612076 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Molybdenum cofactor deficiency, Hypouricemia, Sulfite oxidase deficiency, Increased urinary tauri... |
OMIM:615501 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Jaundice, Lipid accum... |
ORPHA:20 |
Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Premature ovarian insuffi... |
ORPHA:199299 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... |
OMIM:232700 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Testicular atrophy |
OMIM:300322 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... |
OMIM:277900 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Renal insufficiency, Decreased female libido,... |
ORPHA:95409 |
Preeclampsia |
|
Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El... |
ORPHA:275555 |
Juvenile Paget Disease |
|
Hyperuricemia |
ORPHA:2801 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Chronic pancreatitis, Hyperlipidemia, Hematuria, ... |
OMIM:232240 |
Addison Disease |
|
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Primary testicular failur... |
ORPHA:85138 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hepatocellular carcinoma, Portal inflammation, Elevated circulating alanine... |
OMIM:603471 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Ketonuria, Hyperuricemia, Hyperammonemia |
ORPHA:134 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hepatic fibrosis, Elevated gam... |
OMIM:614480 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... |
ORPHA:79230 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... |
OMIM:147480 |
Xanthinuria, Type I |
|
Reduced xanthine dehydrogenase level, Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Py... |
OMIM:278300 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Jaundice, Portal fibrosis, Hepa... |
OMIM:616278 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine... |
OMIM:255120 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Increased serum pyruvate, Elevated hepatic transaminase, Hyperammonemia, Elevated circulating sub... |
OMIM:615160 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Hyperlipidemia, Jaund... |
OMIM:214900 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Molybdenum cofactor deficiency, Xanthine nephrolithiasis, Hypouricemia, Increased urinary sulfite... |
OMIM:252160 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Elevated hepatic transaminase, Abnormal circulati... |
ORPHA:79303 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... |
OMIM:604250 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circulating r... |
ORPHA:90041 |
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion |
|
Hypouricemia |
OMIM:307830 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hepatocellular carcinoma, Jaundice, Renal cys... |
OMIM:619902 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619662 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Anhidrosis, Neurogenic bladder, Renal insufficiency, Proteinuria, ... |
ORPHA:191 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis, Increased erythrocyte protoporphyrin concentration |
OMIM:300752 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Acute hepatic failure, Hepatomegaly, Dicarboxylic aciduria, Eleva... |
OMIM:613070 |
Tyrosinemia, Type Iii |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, 4-Hydroxyphenylpyruvic aciduria, Elevated hepat... |
OMIM:276710 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Proteinuria, Conjugated hyperb... |
OMIM:613404 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Nephrocalcinosis, Blue urine, Hyperphosphatemia, De... |
ORPHA:94086 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... |
OMIM:602347 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Elevated circu... |
OMIM:619355 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Elevated hepatic transaminase, Renal insufficiency, Recurrent myoglobinuria, Exercise... |
ORPHA:99845 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Abn... |
ORPHA:101330 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Elevated circula... |
OMIM:235555 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Dark yellow urine, Conjugated hyperbilirubinemia, At... |
ORPHA:30391 |
Purine Nucleoside Phosphorylase Deficiency |
|
Recurrent urinary tract infections, Hypouricemia, Increased circulating guanosine concentration, ... |
OMIM:613179 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Purine Nucleoside Phosphorylase Deficiency |
|
Decreased urinary urate, Hypouricemia |
ORPHA:760 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Ketonuria, Glycosuria |
ORPHA:2089 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Familial Osteodysplasia, Anderson Type |
|
Hyperuricemia, Thick eyebrow |
ORPHA:2769 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... |
OMIM:104200 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, Malformation ... |
ORPHA:84081 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Abnormal erythrocyte enzyme level, Hypouricemia |
ORPHA:1187 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Conjugated hyperbilirubinemia, ... |
ORPHA:567983 |
Primary Hyperoxaluria Type 3 |
|
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Elevated hepatic transaminase, 4-hydroxyphenylacetic aciduria, Conjugated hyper... |
OMIM:617156 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ... |
ORPHA:300298 |
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating uracil concen... |
OMIM:311250 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Mirizzi Syndrome |
|
Dark urine, Elevated hepatic transaminase, Pancreatitis, Jaundice, Elevated circulating alkaline ... |
ORPHA:521219 |
Eisenmenger Syndrome |
|
Hepatomegaly, Renal insufficiency, Elevated circulating C-reactive protein concentration, Abnorma... |
ORPHA:97214 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Abnormality of th... |
ORPHA:480520 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Acute hepatic failure, Renal insufficiency, Hepatomegaly, Elevated hepatic tran... |
OMIM:276700 |