Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Splenomegaly, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:619868 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Elevated circulating aspartate aminotransferase c... |
OMIM:620010 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:79235 |
Hypervalinemia And Hyperleucine-Isoleucinemia |
|
Hyperleucinemia, Hyperisoleucinemia, Elevated circulating alanine aminotransferase concentration,... |
OMIM:618850 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Unconjugated hyperbilirubinemia, Hepatic failure |
OMIM:143500 |
Glycine N-Methyltransferase Deficiency |
|
Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly |
OMIM:606664 |
Jaundice, Familial Obstructive, Of Infancy |
|
Neonatal hyperbilirubinemia, Jaundice |
OMIM:308600 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Neonatal unconjugated hyperbilirubinemia, Jaundice |
OMIM:237900 |
Crigler-Najjar Syndrome, Type Ii |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237450 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Elevated hepatic transaminase, Increased total bilir... |
OMIM:210500 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, ... |
OMIM:232700 |
Rotor Syndrome |
|
Jaundice, Hyperbilirubinemia, Abnormal enzyme/coenzyme activity, Conjugated hyperbilirubinemia, B... |
ORPHA:3111 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Elevated circulating alkaline phosphatase concentration, Increased LDL ... |
OMIM:616829 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hypermethioninemia, Hyper... |
OMIM:605814 |
Crigler-Najjar Syndrome, Type I |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:218800 |
Glutathione Peroxidase Deficiency |
|
Neonatal hyperbilirubinemia, Compensated hemolytic anemia, Heinz bodies |
OMIM:614164 |
Hypercholanemia, Familial, 2 |
|
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration, Prolonged neonatal jaun... |
OMIM:619256 |
Hyperprolinemia Type 1 |
|
Prolinuria, Hyperprolinemia, Nephropathy, Proteinuria |
ORPHA:419 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Neonatal... |
ORPHA:79234 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Ele... |
OMIM:619232 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, H... |
OMIM:616278 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reticulocytosis,... |
OMIM:237800 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomega... |
OMIM:214900 |
Red Cell Phospholipid Defect With Hemolysis |
|
Hyperbilirubinemia, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Malaria |
|
Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Acute kidney injury, A... |
ORPHA:673 |
Edinburgh Malformation Syndrome |
|
Neonatal hyperbilirubinemia, Jaundice |
OMIM:129850 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia |
OMIM:618660 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alpha-fetoprotein... |
OMIM:619662 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormal urine carbohydrate level, Abnormality o... |
ORPHA:2843 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Hepatic failure, Cir... |
ORPHA:79302 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... |
OMIM:616828 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Elevated hepatic transam... |
OMIM:214950 |
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease |
|
Chronic kidney disease, Cholestatic liver disease, Nephropathy, Abnormal tubulointerstitial morph... |
OMIM:602114 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Cholelithiasis, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Conjugated... |
OMIM:605479 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Increased circulating ferritin concentration, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis,... |
ORPHA:766 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Elevated hepatic transaminase, Increased total bilirubin, Renal insufficiency, Asci... |
ORPHA:890 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Mesangial hypercellularity, Renal insufficiency, Proteinuria |
OMIM:611771 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Hepatic failure, Cholestasis, Elevated hepatic transaminase, Increased total biliru... |
OMIM:618528 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Spleno... |
OMIM:235555 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Hepatomegaly, Prolonged neonatal jaundice, Splenome... |
OMIM:618892 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Pancreatitis, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbili... |
OMIM:243300 |
Methylmalonic Aciduria, Transient, Due To Transcobalamin Receptor Defect |
|
Methylmalonic aciduria, Methylmalonic acidemia, Hyperhomocystinemia |
OMIM:613646 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Cirrhosis,... |
OMIM:607765 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... |
OMIM:616860 |
Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Megaloblastic Anemia, Folate-Responsive |
|
Increased circulating ferritin concentration, Episodic hemolytic anemia, Hyperbilirubinemia, Schi... |
OMIM:601775 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Anisopoikilocy... |
OMIM:616689 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated circulating alkaline phosphatase concentration, Periportal fibrosis, Elevated gamma-glut... |
OMIM:619484 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Nephrotic Syndrome, Type 16 |
|
Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:617783 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Reduced erythrocyte 2,3-diphosphoglycerate concentration, Hemolytic anemia, Incre... |
OMIM:232800 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Hyperbilirubinemia, Cholestasis, Hypermethioninemia, Elevated hepatic t... |
OMIM:614300 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline... |
ORPHA:79303 |
Nephrotic Syndrome, Type 15 |
|
Nephrotic syndrome, Hypoalbuminemia, Proteinuria, Stage 5 chronic kidney disease, Minimal change ... |
OMIM:617609 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Renal Failure, Progressive, With Hypertension |
|
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Micro... |
OMIM:161900 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Polycystic liver disease, Increased total bilirubin, Elevated circulating alkaline phosphatase co... |
OMIM:174050 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Nephrotic Syndrome, Type 7 |
|
Nephrotic syndrome, Thickened glomerular basement membrane, Hemolytic anemia, Acute kidney injury... |
OMIM:615008 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Normocytic ane... |
OMIM:235700 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Anemia of inadequate production, Hepatomegaly, Anisocytosis, Increased RBC distribution width, Sc... |
OMIM:613673 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... |
ORPHA:75234 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Hypocalcemia, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Elevated cir... |
OMIM:619658 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Proteinuria, Renal insufficiency, Micro... |
OMIM:601894 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... |
OMIM:618177 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:301028 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Chronic kidney disease, Proteinuria, Steroid-resistant nephro... |
OMIM:618178 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hyperbilirubinemia, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Erythroid hyperplasia |
OMIM:301083 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... |
OMIM:614480 |
Preeclampsia/Eclampsia 1 |
|
Elevated hepatic transaminase, Thrombocytopenia, Proteinuria |
OMIM:189800 |
Amyloidosis, Familial Visceral |
|
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Cholestasis, Proteinuria |
OMIM:105200 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, H... |
OMIM:306000 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Focal Segmental Glomerulosclerosis 6 |
|
Chronic kidney disease, Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glo... |
OMIM:614131 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Reduced level of... |
OMIM:224120 |
Proteinuria, Chronic Benign |
|
Renal insufficiency, Albuminuria, Proteinuria |
OMIM:618884 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Nephrotic Syndrome, Type 9 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Stage 5 chr... |
OMIM:615573 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Increased serum bile acid concentration during pregnancy, Elevated hepatic transaminase, Intrahep... |
OMIM:147480 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbumine... |
OMIM:600995 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Dubin-Johnson Syndrome |
|
Abnormal urinary color, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, J... |
ORPHA:234 |
Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria, Microangiopathic hemolytic anemia, Thrombocytopenia,... |
ORPHA:2134 |
Spherocytosis, Type 4 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis |
OMIM:612653 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Decreased glucose-6-phosphate dehydrogenase level in blood, Leukocytosis, Splenomegaly, Heinz bod... |
OMIM:300908 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Nephrotic syndrome, Nephropathy, Renal insufficiency, Proteinuria, Glomerulopathy, Lobular glomer... |
OMIM:137950 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis... |
OMIM:185000 |
Spherocytosis, Type 2 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis |
OMIM:616649 |
Protoporphyria, Erythropoietic, X-Linked |
|
Cholelithiasis, Elevated hepatic transaminase, Increased erythrocyte protoporphyrin concentration |
OMIM:300752 |
Gallbladder Disease 1 |
|
Cholelithiasis, Pancreatitis, Elevated circulating alkaline phosphatase concentration, Cholestasi... |
OMIM:600803 |
Glycogen Storage Disease Xii |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, ... |
OMIM:611881 |
Nephrotic Syndrome, Type 17 |
|
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Microscopi... |
OMIM:618176 |
Dehydrated Hereditary Stomatocytosis |
|
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... |
ORPHA:3202 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hyperbilirubinemia, Cholestasis |
OMIM:609734 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal hypoplasia, Proteinuria, Stage 5 ch... |
OMIM:616002 |
Isolated Polycystic Liver Disease |
|
Hepatomegaly, Polycystic liver disease, Multiple renal cysts, Abnormality of the pancreas, Increa... |
ORPHA:2924 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Giant cell hepatitis, Renal tubular acidosis, Aminoaciduria, Hepatomegaly, Jaundice, Cholestatic ... |
OMIM:613404 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Jaundice, Hyperbilirubinemia, Splenomegaly |
OMIM:182900 |
Galactosemia I |
|
Increased level of galactitol in urine, Decreased liver function, Hepatomegaly, Aminoaciduria, In... |
OMIM:230400 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Reticulocytosis, Impaired platelet aggregation, Chronic ... |
OMIM:210250 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Storage Pool Platelet Disease |
|
Acute leukemia, Decreased mean platelet volume |
OMIM:185050 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Nephronophthisis, Glycosuria, Hematuria, Elevated hepatic transami... |
OMIM:614817 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Cholestasis, Hypermethioni... |
ORPHA:247598 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Elev... |
ORPHA:567983 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Cirrhosis, H... |
OMIM:601847 |
Iga Nephropathy, Susceptibility To, 3 |
|
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chr... |
OMIM:616818 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Focal Segmental Glomerulosclerosis 10 |
|
Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Stage 5 chronic kidney dise... |
OMIM:256020 |
Dent Disease 2 |
|
Chronic kidney disease, Hypophosphatemia, Aminoaciduria, Elevated circulating creatine kinase con... |
OMIM:300555 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, 3-hydroxydicarboxylic aciduria, Microvesicular hepatic steatosis, Acute hepatic fai... |
OMIM:613070 |
Nephrotic Syndrome, Type 23 |
|
Mesangial hypercellularity, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclero... |
OMIM:619201 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria |
ORPHA:2613 |
Senior-Boichis Syndrome |
|
Elevated circulating alkaline phosphatase concentration, Reduced number of intrahepatic bile duct... |
ORPHA:84081 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Hyperbilirubinemia, Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis... |
OMIM:109270 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Hepatic failu... |
OMIM:251880 |
Immunodeficiency 40 |
|
Lymphopenia |
OMIM:616433 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Hypophosphatemia, Renal tubular atrophy, Aminoaciduria, Hyposthenuria, Glycosuria, Hypercalciuria... |
OMIM:308990 |
Focal Segmental Glomerulosclerosis 2 |
|
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Stag... |
OMIM:603965 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Abnormality of th... |
OMIM:155100 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Increased circulating ferritin concentration, Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Iga Nephropathy, Susceptibility To, 2 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:613944 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Primary Membranoproliferative Glomerulonephritis |
|
Chronic kidney disease, Nephrotic syndrome, Glomerular subendothelial electron-dense deposits, Pr... |
ORPHA:54370 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
Immunodeficiency 18 |
|
Lymphopenia, Decreased proportion of CD3-positive T cells |
OMIM:615615 |
Lipoyltransferase 1 Deficiency |
|
Decreased liver function, Increased total bilirubin, Elevated hepatic transaminase |
OMIM:616299 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Hyperbilirubinemia, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosi... |
ORPHA:288 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased mean corpuscular volume, Hyperbilirubinemia, Anisocytosis, Poikilocytosis, Increased se... |
ORPHA:98870 |
Fechtner syndrome |
|
Nephritis, Neutrophil inclusion bodies, Hematuria, Leukocyte inclusion bodies, Proteinuria, Giant... |
OMIM:153640 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Increased serum pyruvate, Increased serum iron, Cho... |
OMIM:603358 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hepatic failure, Hyperammonemia, Cirrhosis, Elevated alpha-fetoprotein, Elevated circulating aspa... |
OMIM:617049 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency |
OMIM:607832 |
Elliptocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Elliptocytosis, Neonatal hyperbilirubinemia |
OMIM:130600 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Elevated hepatic trans... |
OMIM:617156 |
Immunodeficiency 8 |
|
Lymphopenia |
OMIM:615401 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Cholestasis, Intrahepatic, Of Pregnancy 3 |
|
Jaundice, Intrahepatic cholestasis, Abnormal liver function tests during pregnancy, Increased ser... |
OMIM:614972 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Hepatomegaly, Abnormal enzyme/coenzyme activity, Hypergalactosemia, Cho... |
ORPHA:570422 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hyperbilirubinemia, Decreased hemoglobin concentration, Myoglobinuria, Hemolytic anemia, Renal in... |
ORPHA:713 |
Myh9-Related Disease |
|
Nephritis, Neutrophil inclusion bodies, Nephropathy, Congenital thrombocytopenia, Increased mean ... |
ORPHA:182050 |
Rh-Null, Regulator Type |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Chronic kidney disease, Renal tubular atrophy, Hyperechogenic kidneys, Tubulointerstitial fibrosi... |
OMIM:613092 |
Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Caroli Disease |
|
Cholelithiasis, Cholangiocarcinoma, Hepatomegaly, Elevated circulating alkaline phosphatase conce... |
ORPHA:53035 |
Hepatoportal Sclerosis |
|
Intrahepatic portal vein sclerosis, Abnormality of the hepatic vasculature, Periportal fibrosis, ... |
ORPHA:64743 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... |
ORPHA:209902 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... |
OMIM:207750 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Lymphopenia, Nephropathy, Absent microvilli on the surface of peripheral blood lymphocytes, Decre... |
OMIM:600903 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Anemia, Stage 5... |
OMIM:603278 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Hepatomegaly, Nephritis, Elevated circulating C-rea... |
OMIM:614034 |
Relapsing Fever |
|
Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Abnormality of... |
ORPHA:91547 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hemolytic anemia, Hypertriglyceridemia, Renal insufficie... |
OMIM:245900 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Abnormality of the kidney, Cirr... |
ORPHA:369 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Galactosemia Iii |
|
Hepatomegaly, Aminoaciduria, Decreased beta-galactosidase activity, Splenomegaly, Hypergalactosem... |
OMIM:230350 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Hypertriglyceridemia, Hypercholeste... |
OMIM:612526 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Caroli Syndrome |
|
Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Elevated circulating alkaline phosphatase concent... |
ORPHA:480520 |
Immunodeficiency, Common Variable, 6 |
|
Mesangial Immune complex deposition, Hepatomegaly, Nephrotic range proteinuria, Macroscopic hemat... |
OMIM:613496 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Conjugated hyperbilirubinemia, Jaundice, I... |
OMIM:211600 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Abnormal renal tubule morphology, Elevated amniotic fluid alpha-fetoprotein, Nephrotic syndrome, ... |
ORPHA:839 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Nephronophthisis, In... |
OMIM:614377 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Hyperbilirubinemia, Elevated circulating aspartate aminotransferase concentration, Mild proteinur... |
OMIM:619685 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Hemoglo... |
OMIM:194380 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Micropenis |
OMIM:613861 |
Nephrotic Syndrome, Type 3 |
|
Nephrotic syndrome, Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Proteinuria,... |
OMIM:610725 |
Nephrotic Syndrome, Type 6 |
|
Nephrotic syndrome, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbumine... |
OMIM:614196 |
Wolcott-Rallison Syndrome |
|
Chronic kidney disease, Exocrine pancreatic insufficiency, Hepatomegaly, Hyperbilirubinemia, Lymp... |
ORPHA:1667 |
Preeclampsia |
|
Chronic kidney disease, Abnormality of the hepatic vasculature, Abnormality of the kidney, Elevat... |
ORPHA:275555 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated circulating alkaline phosphatase concentration, Hyperbilirubinemia, Abnormality of the p... |
ORPHA:69665 |
Fibronectin Glomerulopathy |
|
Nephrotic syndrome, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, H... |
ORPHA:84090 |
Isolated Biliary Atresia |
|
Decreased liver function, Dark yellow urine, Hepatomegaly, Periportal fibrosis, Splenomegaly, Ele... |
ORPHA:30391 |
Wiskott-Aldrich Syndrome |
|
Lymphopenia, Eosinophilia, Nephropathy, Absent microvilli on the surface of peripheral blood lymp... |
OMIM:301000 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Thrombocytopenia 1 |
|
Intermittent thrombocytopenia, Congenital thrombocytopenia, Decreased mean platelet volume |
OMIM:313900 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly |
OMIM:206400 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Renal tubular acidosis, Renal tubular atrophy, Reduced renal corticomedulla... |
OMIM:208085 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Mirizzi Syndrome |
|
Cholelithiasis, Pancreatitis, Jaundice, Hyperbilirubinemia, Elevated circulating alkaline phospha... |
ORPHA:521219 |
Hypermanganesemia With Dystonia 1 |
|
Decreased liver function, Hepatomegaly, Cirrhosis, Elevated hepatic transaminase, Hypermanganesem... |
OMIM:613280 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Glutamate Formiminotransferase Deficiency |
|
Aminoaciduria, Megaloblastic anemia, Positive ferric chloride test, Hypersegmentation of neutroph... |
OMIM:229100 |
Mitchell-Riley Syndrome |
|
Annular pancreas, Hyperbilirubinemia, Biliary atresia, Cholestasis, Pancreatic hypoplasia, Absent... |
OMIM:615710 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Rh Deficiency Syndrome |
|
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Macrocytic anem... |
ORPHA:71275 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Cholestatic liver disease, Elevated circulating alkaline phosphatase concentration, Hyperbilirubi... |
ORPHA:562639 |
Thrombotic Thrombocytopenic Purpura |
|
Decreased serum creatinine, Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria, Mic... |
ORPHA:54057 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia |
OMIM:608898 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop... |
OMIM:267700 |
Infantile Sialic Acid Storage Disease |
|
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubin... |
OMIM:269920 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Cystic Echinococcosis |
|
Cholestatic liver disease, Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosph... |
ORPHA:400 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Hypoalbuminemia, Increased LDL cholesterol concen... |
OMIM:616000 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Impaired lymphocyte transformation with phy... |
OMIM:617006 |
Myoglobinuria, Autosomal Dominant |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Acute kidney injury |
OMIM:160010 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hyper... |
OMIM:603552 |
Iga Nephropathy, Susceptibility To, 1 |
|
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Stage 5 chronic kidney disease |
OMIM:161950 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Hepatocellular necrosis, Hepatic failure, Cirrhosis... |
OMIM:231100 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612925 |
Tyrosinemia Type 1 |
|
Hepatomegaly, Acute hepatic failure, Splenomegaly, Hepatocellular carcinoma, Generalized aminoaci... |
ORPHA:882 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Wilson Disease |
|
Hepatomegaly, Hepatic failure, Glycosuria, Elevated circulating aspartate aminotransferase concen... |
OMIM:277900 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Decreased liver function, Hyperammonemia, Increased serum pyruvate, Elevated circulating sebacic ... |
OMIM:615160 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Elevated gamma-glutamyl... |
OMIM:603471 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Nephrolithiasis, Chronic kidney disease, Renal tubular atrophy, Hypercalciuria, Low-molecular-wei... |
OMIM:310468 |
Hereditary Spherocytosis |
|
Cholelithiasis, Hepatomegaly, Hyperbilirubinemia, Spherocytosis, Splenomegaly, Extramedullary hem... |
ORPHA:822 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Abn... |
ORPHA:567548 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Elevated ... |
ORPHA:567544 |
Immunodeficiency 50 |
|
Recurrent urinary tract infections, Lymphopenia, Neutropenia |
OMIM:300988 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Nephropathy, Proteinuria |
ORPHA:2820 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin, Abnormal urinary color, Splenomegaly |
ORPHA:90037 |
Adenine Phosphoribosyltransferase Deficiency |
|
Nephrolithiasis, Dysuria, Chronic kidney disease, Abnormal enzyme/coenzyme activity, Macroscopic ... |
ORPHA:976 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Neutrophilia, Hereditary |
|
Hepatosplenomegaly, Neutrophilia |
OMIM:162830 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612926 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Hematuria, Elevated circulating creatinine concentration, Acute ki... |
OMIM:612922 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:95715 |
Immunodeficiency 24 |
|
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Lymphopenia,... |
OMIM:615897 |
Nephrotic Syndrome, Type 11 |
|
Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:616730 |
Acquired Partial Lipodystrophy |
|
Lymphocytosis, Microscopic hematuria, Proteinuria, Glomerulopathy, Hepatic steatosis |
ORPHA:79087 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron... |
OMIM:238600 |
Reynolds Syndrome |
|
Hepatomegaly, Hyperbilirubinemia, Elevated circulating alkaline phosphatase concentration, Spleno... |
OMIM:613471 |
Hepatorenocardiac Degenerative Fibrosis |
|
Reduced renal corticomedullary differentiation, Cirrhosis, Hepatosplenomegaly, Hepatocellular car... |
OMIM:619902 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... |
OMIM:613313 |
Aa Amyloidosis |
|
Chronic kidney disease, Nephrotic syndrome, Hepatomegaly, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Slc35A1-Cdg |
|
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Immunodeficiency 19 |
|
Lymphopenia |
OMIM:615617 |
Nephronophthisis 19 |
|
Hepatomegaly, Nephronophthisis, Splenomegaly, Cholestasis, Hepatic fibrosis, Bile duct proliferat... |
OMIM:616217 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Nephrotic syndrome, Nephropathy, Focal segmental glomerulosclerosis, Proteinuria, Renal insuffici... |
OMIM:254900 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Jaundice, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholest... |
OMIM:617394 |
Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Hyperbilirubine... |
OMIM:557000 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Jaundice, Abnormal renal physiology, Schistocytosis, Elevated circ... |
OMIM:274150 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Nephrotic syndrome, Abnormal circulating lipid concentration, Membranoproliferative glomeruloneph... |
OMIM:608709 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Splenomegaly, Hepatic fail... |
OMIM:613812 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Nephropathy, Abnormal B cell count, Anemia |
ORPHA:100024 |
Nephrotic Syndrome, Type 22 |
|
Nephrotic syndrome, Nephrotic range proteinuria, Hypoproteinemia, Thickened glomerular basement m... |
OMIM:619155 |
Lcat Deficiency |
|
Decreased glomerular filtration rate, Decreased circulating apolipoprotein AI concentration, Decr... |
ORPHA:650 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Alpha-1-Antitrypsin Deficiency |
|
Nephrotic syndrome, Hepatomegaly, Hepatic failure, Hepatitis, Jaundice |
ORPHA:60 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... |
OMIM:615285 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Nephrotic Syndrome, Type 8 |
|
Chronic kidney disease, Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Hypoalbumin... |
OMIM:615244 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Hyperalaninemia, Decreased liver function, Elevated hepatic transaminase |
OMIM:616974 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Abnormality of iron homeostasis,... |
ORPHA:848 |
Galloway-Mowat Syndrome 8 |
|
Nephrotic syndrome, Renal tubular atrophy, Hematuria, Focal segmental glomerulosclerosis, Protein... |
OMIM:618349 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemoglobinuria, Glycosuria, Proteinuria, Reduced haptoglobin level, Pancytopenia, Reticulocytosis... |
ORPHA:447 |
Familial Pseudohyperkalemia |
|
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hy... |
ORPHA:90044 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... |
OMIM:301045 |
Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:95717 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Elevated circulating alkaline phosphatase concentr... |
OMIM:616026 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Hepatocellular carcinom... |
ORPHA:370 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... |
OMIM:231200 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Elevated ... |
OMIM:610717 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Fructose Intolerance, Hereditary |
|
Hypophosphatemia, Transient aminoaciduria, Hepatomegaly, Hyperbilirubinemia, Hyperuricosuria, Pro... |
OMIM:229600 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Increased serum iron, Neutropenia, Ane... |
OMIM:604250 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Renal insufficiency, Hypercalcemia, Proteinuria, Glomerulopathy, Anemia |
ORPHA:2668 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Autoinflammatory-Pancytopenia Syndrome |
|
Cholestatic liver disease, Hemophagocytosis, Hepatosplenomegaly, Membranoproliferative glomerulon... |
OMIM:619858 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Myoglobinuria, E... |
ORPHA:228305 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Nephropathy, Focal segmental glomerulosclerosis, Renal cyst, Hyperuricemi... |
OMIM:617056 |
Cog4-Cdg |
|
Elevated circulating alkaline phosphatase concentration, Cirrhosis, Hepatosplenomegaly, Elevated ... |
ORPHA:263501 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Hepatocellular... |
ORPHA:247585 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
|
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis, Glomerulonephritis |
OMIM:247800 |
Growth Hormone Insensitivity Syndrome |
|
Hypoplasia of penis, Hypercholesterolemia |
ORPHA:181393 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Splenomegaly, Hypop... |
OMIM:603553 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Nephronophthisis, Chronic tubulointerstitial n... |
OMIM:602088 |
Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Primary Biliary Cholangitis |
|
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Abnormal circulating li... |
ORPHA:186 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Disorder Of Bile Acid Synthesis |
|
Elevated hepatic transaminase, Abnormality of the liver, Cholestasis, Biliary tract abnormality |
ORPHA:79168 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, T lymphocytopenia |
DECIPHER:16 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Increased total bilirubin, Abnormal urinary color |
ORPHA:90036 |
Glycogen Storage Disease X |
|
Elevated circulating creatine kinase concentration, Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Diamond-Blackfan Anemia 8 |
|
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia |
OMIM:612563 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Decreased glucosephosphate isomerase level, Sple... |
OMIM:613470 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarged kidney, Ele... |
OMIM:608836 |
Glycogen Storage Disease Xi |
|
Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... |
OMIM:612933 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Diffuse mesangial sclerosis |
OMIM:614650 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Green urine, Cholestasis |
OMIM:614156 |
C3 Glomerulopathy |
|
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... |
ORPHA:329918 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Elevated circulating acylcarnitine concentration, Elevated circulating long chain fatty acid conc... |
ORPHA:228302 |
Alpha-1-Antitrypsin Deficiency |
|
Reduced serum alpha-1-antitrypsin, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Elevated he... |
OMIM:613490 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Decreased liver function, Anemia of inadequate production, Decreased mean corpusc... |
ORPHA:231222 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Mental Retardation, And Distinctive Facies |
|
Reduced renal corticomedullary differentiation, Renal cortical hyperechogenicity, Beta 2-microglo... |
OMIM:611555 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Elevated hepatic transaminase, ... |
ORPHA:79301 |
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Lymphopenia, Neutropenia |
OMIM:614868 |
Nephronophthisis 18 |
|
Renal tubular atrophy, Nephronophthisis, Cholestasis, Thickened glomerular basement membrane, Tub... |
OMIM:615862 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Fanconi Renotubular Syndrome 1 |
|
Renal tubular dysfunction, Hypophosphatemia, Hypokalemia, Aminoaciduria, Glycosuria, Proteinuria,... |
OMIM:134600 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Cholelithiasis, Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration, Hep... |
OMIM:614886 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria |
OMIM:613913 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Macronodular cirrhosis, Abnormal T cell m... |
OMIM:215250 |
Bile Acid Malabsorption, Primary, 2 |
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Periportal fibrosis, Steatorrhea, Elevated circulating aspartate aminotransferase concentration, ... |
OMIM:619481 |
Fumarase Deficiency |
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Hyperbilirubinemia, Aminoaciduria, Hepatic failure, Polycythemia, Cholestasis |
OMIM:606812 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Increased circulating ferritin concentration, Decreased mean corpuscular volume, Hypochromia, Hep... |
OMIM:615234 |
Alagille Syndrome 2 |
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Cholestatic liver disease, Renal tubular acidosis, Hematuria, Cholestasis, Renal cyst, Renal hypo... |
OMIM:610205 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
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Increased mean corpuscular volume, Megaloblastic anemia, Hypomethioninemia, Methylmalonic aciduri... |
OMIM:277410 |
Bone Marrow Failure Syndrome 6 |
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Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia |
OMIM:618849 |
Galactokinase Deficiency |
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Hepatomegaly, Abnormal enzyme/coenzyme activity, Hepatosplenomegaly, Increased level of galactito... |
ORPHA:79237 |
Glycogen Storage Disease V |
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Dark urine, Myoglobinuria, Elevated circulating creatine kinase concentration, Hyperuricemia |
OMIM:232600 |
Cyclic Neutropenia |
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Cyclic neutropenia, Neutropenia |
OMIM:162800 |
Progressive Familial Intrahepatic Cholestasis |
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Hypocalcemia, Hepatomegaly, Splenomegaly, Cholestasis, Jaundice |
ORPHA:172 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hepatomegaly, Abnormal enzyme/coenzyme activity, Splenomegaly, Cirrhosis, Elevated circulating cr... |
ORPHA:264580 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
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Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... |
OMIM:202700 |
Fanconi Anemia, Complementation Group V |
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Elevated alpha-fetoprotein, Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic an... |
ORPHA:444463 |
Hardikar Syndrome |
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Hepatomegaly, Hepatic failure, Hypoplasia of the bladder, Bladder exstrophy, Cholestasis, Prolong... |
OMIM:301068 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
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Elevated circulating creatine kinase concentration, Myoglobinuria, Increased circulating lactate ... |
OMIM:268200 |
Cryoglobulinemia, Familial Mixed |
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Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... |
OMIM:123550 |
Hereditary Renal Hypouricemia |
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Chronic kidney disease, Increased blood urea nitrogen, Decreased glomerular filtration rate, Abno... |
ORPHA:94088 |
Intrinsic Factor Deficiency |
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Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia |
OMIM:261000 |
Mucopolysaccharidosis-Plus Syndrome |
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Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Leukopenia, Enl... |
OMIM:617303 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Intrahepatic cholestasis, B... |
OMIM:602347 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
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Increased mean platelet volume, Thrombocytopenia, Hydronephrosis |
OMIM:300048 |
Pelger-Huet Anomaly |
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Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Neutropenia, ... |
OMIM:169400 |
Fanconi Renotubular Syndrome 3 |
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Aminoaciduria, Glycosuria, Low-molecular-weight proteinuria, Elevated circulating creatinine conc... |
OMIM:615605 |
Lysinuric Protein Intolerance |
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Increased circulating ferritin concentration, Hepatomegaly, Hemophagocytosis, Steatorrhea, Decrea... |
ORPHA:470 |
Trimethylaminuria |
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Trimethylaminuria, Anemia, Neutropenia, Splenomegaly |
OMIM:602079 |
Congenital Megacalycosis |
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Nephrolithiasis, Abnormal renal physiology, Recurrent urinary tract infections, Hematuria, Enlarg... |
ORPHA:93109 |
Dpm3-Cdg |
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Elevated creatine kinase after exercise, Elevated hepatic transaminase |
ORPHA:263494 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
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Elevated hepatic transaminase, Hyperammonemia, Acute hepatic failure |
OMIM:615453 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
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Elevated hepatic transaminase, Elevated circulating creatine kinase concentration |
OMIM:612937 |
Hypercholesterolemia, Familial, 3 |
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Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Anemia, Congenital Dyserythropoietic, Type Ib |
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Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Temple Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Autosomal Dominant Spastic Paraplegia Type 29 |
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Abnormality of the lower urinary tract, Hyperbilirubinemia |
ORPHA:101009 |
Thalassemia, Beta+, Silent Allele |
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Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Diamond-Blackfan Anemia 3 |
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Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Genetic Steroid-Resistant Nephrotic Syndrome |
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Chronic kidney disease, Diffuse mesangial sclerosis, Peritonitis, Focal segmental glomerulosclero... |
ORPHA:656 |
Immunodeficiency 97 With Autoinflammation |
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Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:619802 |
Erythroleukemia, Familial, Susceptibility To |
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Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Transcobalamin Deficiency |
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Neutropenia, Lymphopenia, Methylmalonic aciduria, Acute kidney injury, Pancytopenia, Thrombocytop... |
ORPHA:859 |
Denys-Drash Syndrome |
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Nephrotic syndrome, Nephropathy, Nephroblastoma, Proteinuria |
ORPHA:220 |
Fructose-1,6-Bisphosphatase Deficiency |
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Hepatomegaly, Abnormal enzyme/coenzyme activity, Increased urinary glycerol, Elevated hepatic tra... |
ORPHA:348 |
Acquired Idiopathic Sideroblastic Anemia |
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Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... |
ORPHA:75564 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
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Persistence of hemoglobin F |
OMIM:141749 |
Glycogen Storage Disease Iii |
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Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepati... |
OMIM:232400 |
Benign Recurrent Intrahepatic Cholestasis |
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Cholelithiasis, Cholestatic liver disease, Pancreatitis, Cirrhosis, Hepatocellular carcinoma, Ele... |
ORPHA:65682 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
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Elevated circulating creatine kinase concentration, Increased serum pyruvate, Myoglobinuria, Rena... |
ORPHA:2364 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
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Hypokalemia, Pancreatitis, Leukocytosis, Hemoglobinuria, Peritonitis, Schistocytosis, Increased c... |
ORPHA:90038 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Decreased liver function, Nephrotic syndrome, Hepatomegaly, Renal tubular atrophy, Decreased glom... |
ORPHA:85450 |
Imerslund-Grasbeck Syndrome 1 |
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Megaloblastic anemia, Microscopic hematuria, Proteinuria |
OMIM:261100 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
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Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Renal Hypoplasia |
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Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... |
ORPHA:93101 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
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Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ... |
OMIM:600649 |
Congenital Amegakaryocytic Thrombocytopenia |
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Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Gracile Syndrome |
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Increased circulating ferritin concentration, Decreased transferrin saturation, Cirrhosis, Choles... |
ORPHA:53693 |
Reticular Dysgenesis |
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Hypoplasia of the thymus, Lymphopenia, Leukopenia, Congenital agranulocytosis |
OMIM:267500 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
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Decreased liver function, Elevated hepatic transaminase, Duplicated collecting system, Hydronephr... |
OMIM:617093 |
Hemochromatosis Type 2 |
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Increased circulating ferritin concentration, Abnormality of endocrine pancreas physiology, Conge... |
ORPHA:79230 |
Cholestasis-Lymphedema Syndrome |
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Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Biliary tract abnormality, Portal hyperten... |
ORPHA:1414 |
Autosomal Dominant Polycystic Kidney Disease |
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Nephrolithiasis, Chronic kidney disease, Decreased glomerular filtration rate, Abnormal urinary e... |
ORPHA:730 |
Anemia, Sideroblastic, 5 |
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Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Vitamin B12-Responsive Methylmalonic Acidemia |
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Anemia, Hepatomegaly, Renal insufficiency, Hyperammonemia |
ORPHA:28 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
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Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
Glycogen Storage Disease Ib |
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Nephrolithiasis, Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Splenomegaly... |
OMIM:232220 |
Methylcobalamin Deficiency Type Cble |
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Increased mean corpuscular volume, Neutropenia, Hypomethioninemia, Macrocytic anemia, Hyperhomocy... |
ORPHA:2169 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Chronic kidney disease, Hypomagnesemia, Polyuria, Leukopenia, Hyperechogenic kidneys, Proteinuria... |
OMIM:613845 |
Propionic Acidemia |
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Organic aciduria, Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hyperammonemia |
ORPHA:35 |
Portal Hypertension, Noncirrhotic, 1 |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Hypercholesterolemia, Familial, 2 |
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Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Galloway-Mowat Syndrome 7 |
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Nephrotic syndrome, Renal tubular atrophy, Diffuse mesangial sclerosis, IgA deposition in the glo... |
OMIM:618348 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
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Hyperbilirubinemia, Elevated hepatic transaminase, Elevated circulating creatinine concentration,... |
ORPHA:542323 |
Glycogen Storage Disease Ixc |
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Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated hepatic trans... |
OMIM:613027 |
Lymphangiectasia, Intestinal |
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Neonatal hypoproteinemia, Lymphopenia |
OMIM:152800 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Urinary bladder sphincter dysfunction, Elevated alpha-fetoprotein, Elevated circulating creatine ... |
ORPHA:64753 |
Paternal Uniparental Disomy Of Chromosome 1 |
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Episodic hemolytic anemia, Increased blood urea nitrogen, Macroscopic hematuria, Membranoprolifer... |
ORPHA:251004 |
Immunodeficiency 47 |
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Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Accessory spleen, Eleva... |
OMIM:300972 |
Familial Thyroid Dyshormonogenesis |
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Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Prolonged neonatal jaundice |
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