Polycystic Kidney Disease 5 |
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Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Crigler-Najjar Syndrome Type 2 |
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Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79235 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
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Hepatomegaly, Abnormal circulating bilirubin concentration, Increased serum bile acid concentration |
OMIM:619874 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
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Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Splenomegaly, Hyperbilirubinemia, Incre... |
OMIM:620010 |
Congenital Megacalycosis |
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Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Malaria |
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Acute kidney injury, Hyperbilirubinemia, Gait imbalance, Elevated circulating C-reactive protein ... |
ORPHA:673 |
Rotor Syndrome |
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Conjugated hyperbilirubinemia, Bilirubinuria, Hyperbilirubinemia, Porphyrinuria |
ORPHA:3111 |
Hyperbilirubinemia, Transient Familial Neonatal |
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Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Jaundice, Familial Obstructive, Of Infancy |
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Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
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Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
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Conjugated hyperbilirubinemia |
OMIM:237550 |
Hypercholanemia, Familial, 2 |
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Increased serum bile acid concentration, Unconjugated hyperbilirubinemia |
OMIM:619256 |
Glutathione Peroxidase Deficiency |
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Neonatal hyperbilirubinemia |
OMIM:614164 |
Immunodeficiency, Common Variable, 6 |
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Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
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Hyperbilirubinemia |
OMIM:618660 |
Hyperbilirubinemia, Rotor Type |
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Conjugated hyperbilirubinemia |
OMIM:237450 |
Red Cell Phospholipid Defect With Hemolysis |
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Splenomegaly, Hyperbilirubinemia |
OMIM:179700 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
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Renal cyst, Increased total bilirubin |
OMIM:174050 |
Dubin-Johnson Syndrome |
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Conjugated hyperbilirubinemia |
OMIM:237500 |
Crigler-Najjar Syndrome, Type I |
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Unconjugated hyperbilirubinemia |
OMIM:218800 |
Nephronophthisis 2 |
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Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... |
OMIM:602088 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile ... |
OMIM:619868 |
Nephronophthisis 16 |
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Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
Hyperbilirubinemia, Shunt, Primary |
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Splenomegaly, Hepatomegaly, Hyperbilirubinemia |
OMIM:237800 |
Hepatorenocardiac Degenerative Fibrosis |
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Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
Isolated Polycystic Liver Disease |
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Hepatomegaly, Multiple renal cysts, Increased total bilirubin |
ORPHA:2924 |
Crigler-Najjar Syndrome Type 1 |
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Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia |
ORPHA:79234 |
Hepatic Veno-Occlusive Disease |
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Hepatomegaly, Renal insufficiency, Increased total bilirubin |
ORPHA:890 |
Edinburgh Malformation Syndrome |
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Neonatal hyperbilirubinemia |
OMIM:129850 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
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Micropenis, Ataxia, Neonatal hyperbilirubinemia |
ORPHA:3363 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
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Splenomegaly, Hepatomegaly, Enlarged kidney |
OMIM:615285 |
Renal Dysplasia |
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Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Aa Amyloidosis |
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Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
Gilbert Syndrome |
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Unconjugated hyperbilirubinemia |
OMIM:143500 |
Focal Segmental Glomerulosclerosis 7 |
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Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Harderoporphyria |
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Hepatomegaly, Increased urine harderoporphyrin level, Splenomegaly, Increased circulating ferriti... |
OMIM:618892 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
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Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Hepatomegaly, Splenomegaly, Increased total iron binding capacity, Increased serum bile acid conc... |
OMIM:616278 |
Lipoyltransferase 1 Deficiency |
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Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Hyperglutaminuria, Increased tota... |
OMIM:616299 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
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Conjugated hyperbilirubinemia, Hepatomegaly, Increased serum bile acid concentration |
OMIM:243300 |
Biliary Atresia, Extrahepatic |
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Unconjugated hyperbilirubinemia, Hepatomegaly, Hyperbilirubinemia, Increased total bilirubin |
OMIM:210500 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
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Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... |
OMIM:613092 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
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Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Elevated circulating cr... |
OMIM:608836 |
Meckel Syndrome, Type 8 |
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Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
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Myoglobinuria, Renal insufficiency, Ataxia, Hyperbilirubinemia |
ORPHA:713 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Hepatomegaly, Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
Hypermanganesemia With Dystonia 1 |
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Hepatomegaly, Hypermanganesemia, Bradykinesia, Steppage gait, Increased total iron binding capaci... |
OMIM:613280 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
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Nephroblastoma, Enlarged kidney |
OMIM:618272 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Increa... |
ORPHA:247598 |
Bile Acid Conjugation Defect 1 |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:619232 |
Vesicoureteral Reflux 2 |
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Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
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Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
Hijazi-Reis Syndrome |
|
Gait disturbance, Hyperbilirubinemia |
OMIM:301094 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
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Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Nephrotic syndrome |
OMIM:269920 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
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Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158057 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
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Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr... |
ORPHA:766 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
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Hepatomegaly, Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosi... |
OMIM:613404 |
Congenital Bile Acid Synthesis Defect Type 2 |
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Dark urine, Hepatomegaly, Conjugated hyperbilirubinemia, Renal cyst, Hyperbilirubinemia, Abnormal... |
ORPHA:79303 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Abnormal urinary color, Hepatomegaly |
ORPHA:234 |
Congenital Anomalies Of Kidney And Urinary Tract 2 |
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Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... |
OMIM:143400 |
Autosomal Dominant Spastic Paraplegia Type 29 |
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Hyperbilirubinemia, Abnormality of the lower urinary tract |
ORPHA:101009 |
Spherocytosis, Type 4 |
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Splenomegaly, Hyperbilirubinemia |
OMIM:612653 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia |
OMIM:601775 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Abnormal urinary color, Increased total bilirubin |
ORPHA:90037 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilir... |
OMIM:618528 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Conjugated hyperbilirubinemia, Hepatomegaly |
OMIM:605479 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Urinary incontinence, Urinary hesitancy, Urinary urgency, Neonatal hyperbilirubinemia, Nocturia |
OMIM:609727 |
Idiopathic Congenital Hypothyroidism |
|
Lethargy, Neonatal hyperbilirubinemia |
ORPHA:95717 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Inability to walk, Nephrotic syndrome, Focal segmental g... |
OMIM:617303 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Hypercalciuria, Generalize... |
OMIM:227810 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Increased blood urea nitrog... |
ORPHA:251004 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia |
OMIM:235555 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyperbilirubinemia, 4-Hydroxyphenylp... |
OMIM:617156 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... |
OMIM:614300 |
Glycogen Storage Disease Vii |
|
Elevated circulating creatine kinase concentration, Exercise-induced myoglobinuria, Hematuria, Hy... |
OMIM:232800 |
Liver Failure, Infantile, Transient |
|
3-hydroxydicarboxylic aciduria, Hepatomegaly, Dicarboxylic aciduria, Lacticaciduria, Hypoalbumine... |
OMIM:613070 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Hyperlipidemia, Nephrolithiasis, Focal segmental glomerulosclerosis, H... |
OMIM:232200 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Renal insufficiency, Chronic kidney disease, Hyperammonemia, Hypoalbu... |
ORPHA:1667 |
Spherocytosis, Type 1 |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:182900 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Elevated circulating alpha-fetoprotein conce... |
OMIM:276700 |
Spherocytosis, Type 2 |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:616649 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia... |
OMIM:267700 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Hyperlipidemia, Nephrolithiasis, Focal segmental glomeru... |
OMIM:232220 |
Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Increased serum bile acid concentration, Hyperbilirubinemia, Mild proteinuria |
OMIM:619685 |
Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Decreased serum bile acid concentration, Hepatomegaly, Hyperbilirubinemia |
OMIM:214950 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tub... |
OMIM:208085 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Hyperbilirubinemia |
OMIM:235700 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia |
OMIM:616689 |
Familial Thyroid Dyshormonogenesis |
|
Lethargy, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:95716 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91547 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Abnormal urinary color, Increased total bilirubin |
ORPHA:90036 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia |
OMIM:601847 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... |
ORPHA:542323 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:79302 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Renal tubular dysfunction, Elevated circulating long chain fatty acid concentration, Hyperbilirub... |
OMIM:614886 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Hepatomegaly, Hypospadias, Splenomegaly, Hepatosplenomegaly, Hyperbilirubinemia, Unconjugated hyp... |
OMIM:613673 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Hepatomegaly, Bicarbonaturia, Proximal renal tubular ... |
OMIM:229600 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia |
OMIM:301083 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia |
OMIM:211600 |
Rh-Null, Regulator Type |
|
Unconjugated hyperbilirubinemia |
OMIM:268150 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Hepatomegaly, Increased serum pyruvate, Hyperglutamatemia, Ataxia, Lacticacidur... |
ORPHA:3008 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... |
OMIM:619662 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia |
OMIM:185000 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level |
ORPHA:95715 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia... |
OMIM:208540 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Hypocholesterolemia |
OMIM:607765 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer... |
OMIM:603553 |
Elliptocytosis 2 |
|
Neonatal hyperbilirubinemia |
OMIM:130600 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Splenomegaly, Hepatomegaly, Reduced haptoglobin level, Unconjugated hyperbilirubinemia |
OMIM:266200 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Duplicated collecting system, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc... |
OMIM:617093 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Inability to walk, Hepatosplenomegaly, Nephrotic... |
ORPHA:505248 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Elevated circulating C-reactive protein concentration, Urinary ... |
ORPHA:449395 |
Abetalipoproteinemia |
|
Hepatomegaly, Broad-based gait, Decreased HDL cholesterol concentration, Ataxia, Cardiomegaly, De... |
ORPHA:14 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia |
ORPHA:98870 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Conjugated hyperbilirubinemia |
OMIM:619484 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Generalized ami... |
OMIM:251880 |
Cystic Echinococcosis |
|
Membranous nephropathy, Hyperbilirubinemia, Renal cyst, Hepatomegaly |
ORPHA:400 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Ataxia, Conjugated hyperbilirubinemia, Splenomegaly, Inability to walk, Hyperkalemia |
OMIM:608885 |
Hereditary Spherocytosis |
|
Splenomegaly, Hepatomegaly, Ataxia, Hyperbilirubinemia |
ORPHA:822 |
Wilson Disease |
|
Hepatomegaly, Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, ... |
OMIM:277900 |
Hepatoportal Sclerosis |
|
Splenomegaly, Hypoalbuminemia, Hyperbilirubinemia |
ORPHA:64743 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Hemoglobinuria, Decreased glucose-6-phosphate dehydrogenase level in blood, Unconju... |
OMIM:300908 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
H Syndrome |
|
Hypertriglyceridemia, Abnormality of the kidney, Hepatosplenomegaly, Micropenis, Enlarged kidney |
ORPHA:168569 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:617049 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia |
OMIM:613812 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Hemoglobinuria, H... |
OMIM:611881 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Hyperlipidemia, Nephrolithiasis, Stage 5 chronic... |
ORPHA:79259 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Conjugated hyperbilirubinemia, Hepatomegaly, Dicarboxylic aciduria, Increased circulating very lo... |
OMIM:614887 |
Bachmann-Bupp Syndrome |
|
Hyperbilirubinemia |
OMIM:619075 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia |
OMIM:609734 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Increased urinary glycerol, Hyperuricemia, Hyperalaninemia, Neonatal hyperbilirubin... |
ORPHA:348 |
Hereditary Elliptocytosis |
|
Splenomegaly, Neonatal hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:288 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
Kaposiform Lymphangiomatosis |
|
Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly |
ORPHA:464329 |
Distal Xq28 Microduplication Syndrome |
|
Tip-toe gait, Neonatal hyperbilirubinemia |
ORPHA:293939 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Enlarged kidney |
ORPHA:79128 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Hypospadias, Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phyt... |
OMIM:614866 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Stage 5 chro... |
ORPHA:731 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu... |
OMIM:252500 |
Dehydrated Hereditary Stomatocytosis |
|
Splenomegaly, Increased circulating ferritin concentration, Abnormal blood potassium concentratio... |
ORPHA:3202 |
Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Splenomegaly, Hepatomegaly, Hyperbilirubinemia |
OMIM:224120 |
Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
Pearson Marrow-Pancreas Syndrome |
|
Hepatomegaly, Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic ... |
OMIM:557000 |
Intrahepatic Cholestasis Of Pregnancy |
|
Increased serum bile acid concentration, Hyperbilirubinemia |
ORPHA:69665 |
Sickle Cell Anemia |
|
Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia |
ORPHA:232 |
Autoimmune Hepatitis |
|
Splenomegaly, Glomerulonephritis, Increased total bilirubin |
ORPHA:2137 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Neonatal hyperbilirubinemia |
ORPHA:73272 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Lethargy, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90673 |
Alg9-Cdg |
|
Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Abnormal renal artery morphology, H... |
ORPHA:79328 |
Fumarase Deficiency |
|
Increased urine succinate level, Bilateral fetal pyelectasis, Elevated urine fumaric acid level, ... |
OMIM:606812 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Rh Deficiency Syndrome |
|
Reduced haptoglobin level, Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:71275 |
Caroli Syndrome |
|
Hepatomegaly, Abnormality of the kidney, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Polyc... |
ORPHA:480520 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Decreased serum iron, Chronic kidney disease, ... |
ORPHA:447 |
Beckwith-Wiedemann Syndrome |
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Ureteral duplication, Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Cardiom... |
ORPHA:116 |
Osteopetrosis, Autosomal Recessive 5 |
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Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hyperbilirubinemia |
OMIM:259720 |
Graft Versus Host Disease |
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Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:39812 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Renal insufficiency, Proteinuria, Conjugated hyperbilirubinemia, Chronic kidney disease, Renal cy... |
OMIM:208500 |
Leprechaunism |
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Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increa... |
ORPHA:508 |
Caroli Disease |
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Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Polycystic kidney dysplasia, Abnormal ... |
ORPHA:53035 |
Pituitary Hormone Deficiency, Combined, 6 |
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Hyperbilirubinemia |
OMIM:613986 |
Lathosterolosis |
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Horseshoe kidney, Hepatosplenomegaly, Abnormal circulating cholesterol concentration, Hyperbiliru... |
OMIM:607330 |
Mirizzi Syndrome |
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Dark urine, Hyperbilirubinemia |
ORPHA:521219 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Hypospadias, Hypocalcemia, Hyperbilirubinemia, Micropenis, Hydronephrosis |
ORPHA:163979 |
Ogden Syndrome |
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Global glomerulosclerosis, Cardiomegaly, Hyperbilirubinemia, Polycystic kidney dysplasia, Enlarge... |
OMIM:300855 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... |
ORPHA:90038 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
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Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney |
ORPHA:500095 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Lethargy, Abnormal circulating thyroglobulin level, Hypercholesterolemia, Neonatal hyperbilirubin... |
ORPHA:90674 |
Parenteral Nutrition-Associated Cholestasis |
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Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating f... |
ORPHA:567983 |
Hardikar Syndrome |
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Hepatomegaly, Renal insufficiency, Hydroureter, Hypoplasia of the bladder, Recurrent urinary trac... |
OMIM:301068 |
Meacham Syndrome |
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Enlarged kidney, Horseshoe kidney |
OMIM:608978 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
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Enlarged kidney, Cardiomegaly |
OMIM:261740 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
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Abnormal renal cortex morphology, Abnormality of the kidney, Hyperbilirubinemia |
ORPHA:464321 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
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Conjugated hyperbilirubinemia, Ataxia, Hepatosplenomegaly |
ORPHA:168577 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
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Lethargy, Increased circulating thyroglobulin level, Hyperbilirubinemia |
OMIM:218700 |
Lissencephaly Due To Lis1 Mutation |
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Neonatal hyperbilirubinemia |
ORPHA:95232 |
Mitchell-Riley Syndrome |
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Hyperbilirubinemia |
OMIM:615710 |
Helsmoortel-Van Der Aa Syndrome |
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Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna |
OMIM:615873 |
Neurooculorenal Syndrome |
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Hypoplasia of the bladder, Unilateral renal agenesis, Conjugated hyperbilirubinemia, Stage 2 chro... |
OMIM:620305 |
Isolated Biliary Atresia |
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Splenomegaly, Hepatomegaly, Conjugated hyperbilirubinemia, Dark yellow urine |
ORPHA:30391 |
Heterotaxy, Visceral, 1, X-Linked |
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Hepatomegaly, Renal agenesis, Cardiomegaly, Horseshoe kidney, Enlarged kidney |
OMIM:306955 |
Degcags Syndrome |
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Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Bilateral renal dysplasia, Abnorma... |
OMIM:619488 |
Cranioectodermal Dysplasia 2 |
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Hepatomegaly, Renal insufficiency, Splenomegaly, Renal cyst, Hyperbilirubinemia, Left ventricular... |
OMIM:613610 |
Liver Disease, Severe Congenital |
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Hyponatremia, Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Elevated circulating... |
OMIM:619991 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Broad-based gait, Hypospadias, Ataxia, Hematuria, Tip-toe gait, Falls, Hyperbilirubinemia, Microp... |
OMIM:619475 |
Reynolds Syndrome |
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Splenomegaly, Hepatomegaly, Calcinosis, Hyperbilirubinemia |
OMIM:613471 |
X-Linked Intellectual Disability, Nascimento Type |
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Vesicoureteral reflux, Micropenis, Hypospadias, Neonatal hyperbilirubinemia |
ORPHA:163956 |
Primary Biliary Cholangitis |
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Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia |
ORPHA:186 |
Yellow Fever |
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Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Pancreatic hyper... |
ORPHA:99829 |
Congenital Erythropoietic Porphyria |
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Splenomegaly, Abnormal circulating porphyrin concentration, Red-brown urine, Porphyrinuria, Incre... |
ORPHA:79277 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
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Renal hypoplasia, Renal cyst, Hyperbilirubinemia, Polycystic kidney dysplasia, Micropenis |
OMIM:210710 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Dark urine, Hepatomegaly, Renal insufficiency, Conjugated hyperbilirubinemia, Splenomegaly, Incre... |
OMIM:619534 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatosplenomegaly, Hepatomegaly, Unconjugated hyperbilirubinemia, Cardiomegaly |
OMIM:618278 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
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Hyperbilirubinemia |
ORPHA:562639 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Nephroblastoma,... |
OMIM:312870 |
Cardiac-Urogenital Syndrome |
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Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus |
OMIM:618280 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Recurrent urinary tract infections, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia |
OMIM:613658 |
Congenital Disorder Of Glycosylation, Type Iim |
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Ureteropelvic junction obstruction, Vesicovaginal fistula, Neonatal hyperbilirubinemia |
OMIM:300896 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
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Unconjugated hyperbilirubinemia, Right ventricular hypertrophy |
OMIM:620186 |
Johanson-Blizzard Syndrome |
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Hepatomegaly, Hypospadias, Urethrovaginal fistula, Increased VLDL cholesterol concentration, Conj... |
OMIM:243800 |