Hemoglobin D Disease |
|
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... |
ORPHA:90039 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatomegaly, Splenomegaly, Short stature, Elevated hepatic transaminase, Hypertriglyceridemia, H... |
OMIM:614480 |
Glycogen Storage Disease Vi |
|
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Elevated hepatic transaminase, ... |
OMIM:232700 |
Hemoglobin H Disease |
|
Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin |
OMIM:613978 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... |
OMIM:616829 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic... |
OMIM:603902 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Hypertriglycerid... |
OMIM:610717 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Hemoglobin C-Beta-Thalassemia Syndrome |
|
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly |
ORPHA:231242 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis, Severe short-limb dwarfism |
ORPHA:436182 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Persistence of hemoglobin F, Anemia, Hepatomegaly, Splenomegaly |
ORPHA:46532 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hepatomegaly, Splenomegaly, Short stature, Hepatosplenomegaly, Hypertriglyceridemia... |
OMIM:612526 |
Hemoglobin-Delta locus |
|
Anemia, Imbalanced hemoglobin synthesis |
OMIM:142000 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly |
OMIM:610539 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
Fetal Cytomegalovirus Syndrome |
|
Anemia, Hepatomegaly, Splenomegaly |
ORPHA:294 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly |
ORPHA:231393 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic ... |
OMIM:607765 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Hemoglobin E-Beta-Thalassemia Syndrome |
|
Anemia, Abnormal hemoglobin |
ORPHA:231249 |
Citrullinemia, Type Ii, Adult-Onset |
|
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Argininosuccinic acidur... |
OMIM:603471 |
Hemoglobin E Disease |
|
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... |
ORPHA:2133 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... |
OMIM:246700 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Elevated circulating aspartate amin... |
OMIM:619868 |
Peroxisome Biogenesis Disorder 3B |
|
Failure to thrive, Hypocholesterolemia, Hepatomegaly, Steatorrhea |
OMIM:266510 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Intrauterine growth retardation, Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, I... |
OMIM:619048 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Hyperammonemia, Elevated circulating creatine kinase concen... |
OMIM:255120 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Intrauterine growth retardation, Failure to thr... |
ORPHA:26792 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Failure to thrive, Intrauterine growth retardation, Microvesicular hepatic steatosis, Hepatic fai... |
OMIM:617156 |
Thalassemia, Beta+, Silent Allele |
|
Reduced beta/alpha synthesis ratio |
OMIM:187550 |
Fetal Hemoglobin Quantitative Trait Locus 1 |
|
Persistence of hemoglobin F |
OMIM:141749 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Elevated circulating... |
OMIM:615980 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Elevated hepatic transaminase, Hypocholesterolemia, Increased hep... |
ORPHA:71 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Aminoaciduria, Lacticaciduria, Elevated circulating creatine kinase concentration, ... |
OMIM:619386 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Hyperbilirubinemia, Cirrhosis, Decreased HDL cholesterol concentration, Hyperm... |
OMIM:605814 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Failure to thrive, Growth delay, Hyperlipidemia, Hepatomegaly, Short stature, Increased hepatic g... |
ORPHA:369 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Failure to thrive, Short stature, Decreased HDL cholesterol concentration, Decreased LDL choleste... |
OMIM:616834 |
Lysosomal Acid Lipase Deficiency |
|
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... |
OMIM:278000 |
Delta-Beta-Thalassemia |
|
Anemia, Microcytic anemia, Abnormal hemoglobin |
ORPHA:231237 |
Hypobetalipoproteinemia, Familial, 1 |
|
Steatorrhea, Decreased HDL cholesterol concentration, Elevated circulating aspartate aminotransfe... |
OMIM:615558 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... |
ORPHA:209902 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Idiopathic Copper-Associated Cirrhosis |
|
Cirrhosis, Increased circulating copper concentration, Hepatic steatosis, Increased urinary coppe... |
ORPHA:209919 |
Patent Ductus Venosus |
|
Decreased liver function, Hepatic steatosis, Hypergalactosemia, Hyperammonemia |
OMIM:601466 |
Acetophenetidin Sensitivity |
|
Hemolytic anemia, Methemoglobinemia |
OMIM:200300 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Increased C-peptide level, Hepatic steatosis, Hepatomegaly |
OMIM:615238 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Decreased liver function, Failure to thrive, Intrauterine growth retardation, Elevated hepatic tr... |
OMIM:617093 |
Alpha-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Splenomegaly, Hemolytic anemia, Microcytic anemia, Anemia, J... |
ORPHA:846 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Dark urine, Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Postnatal ... |
ORPHA:79303 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Hepatic steatosis |
OMIM:613877 |
African Iron Overload |
|
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... |
ORPHA:139507 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:615395 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... |
ORPHA:247585 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cholestatic liver disease, Hepatomegaly, Increased LDL cholesterol concentration, Splenomegaly, H... |
OMIM:616828 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Decreased transferrin saturation, Intrauterine grow... |
ORPHA:53693 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Short stature, Hepatosplenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hypoalbum... |
OMIM:619013 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Failure to thrive, Growth delay, Hepatomegaly, Renal tubular acidosis, Splenomegaly, Cirrhosis, H... |
ORPHA:370 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Short stature, Elevated circulating aspartate ami... |
OMIM:620010 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Decreased liver function, Failure to thrive, Hyperbilirubinemia, Cholestasis, Hypermethioninemia,... |
OMIM:614300 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hepatomegaly, Cholestasis, Hypermethioninemia, Abnormal circulating arginine concentration, Abnor... |
ORPHA:247598 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hyperlipidemia, Hepatomegaly, Abnormal circulating fatty-acid concentration, Sple... |
ORPHA:567983 |
Cyanosis, Transient Neonatal |
|
Methemoglobinemia, Hepatomegaly, Anemia, Reticulocytosis, Jaundice |
OMIM:613977 |
Hemochromatosis Type 4 |
|
Increased circulating ferritin concentration, Cirrhosis, Hepatic steatosis, Congenital hepatic fi... |
ORPHA:139491 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Hyperlipidemia, Hepatic steatosis, Hepatomegaly |
ORPHA:79085 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... |
OMIM:251880 |
Methemoglobinemia, Beta Type |
|
Methemoglobinemia |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Methemoglobinemia |
OMIM:617973 |
Hemochromatosis, Type 4 |
|
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Hepatic steatosis, Elevate... |
OMIM:606069 |
Galactosemia Iii |
|
Failure to thrive, Hepatomegaly, Aminoaciduria, Splenomegaly, Hypergalactosemia, Galactosuria, Ja... |
OMIM:230350 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Failure to thrive, Growth delay, Hepatomegaly, Renal tubular acidosis, Splenomegaly, Short statur... |
ORPHA:264580 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Elevated hepatic transaminase, Hyperuricemia, H... |
OMIM:306000 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Pancreatitis, Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypoalbu... |
OMIM:618805 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hepatic transaminase, Conjugated ... |
OMIM:214900 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Elevated circula... |
ORPHA:228305 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hypercholesterolemi... |
ORPHA:75234 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypertriglyceridemia, Hepatic steatosis |
ORPHA:435651 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutrope... |
OMIM:615285 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly |
OMIM:206400 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Hepatic steato... |
ORPHA:369840 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Hepatic steatosis |
OMIM:615595 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... |
ORPHA:42 |
Erythroleukemia, Familial, Susceptibility To |
|
Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia, Leukemia, Acute myeloid leukemia, Erythroid... |
OMIM:133180 |
Cholestasis-Lymphedema Syndrome |
|
Hyperlipidemia, Hepatomegaly, Splenomegaly, Cirrhosis, Multiple lipomas, Biliary tract abnormalit... |
ORPHA:1414 |
Hyperbilirubinemia, Shunt, Primary |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Reticulocytosis, Jaundice, Erythroid... |
OMIM:237800 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Intrauterine growth retardation, Failure to thrive, Abnormal circulating acetylcarnitine concentr... |
ORPHA:71212 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, T... |
OMIM:614582 |
Familial Chylomicronemia Syndrome |
|
Failure to thrive, Hyperlipidemia, Decreased body weight, Jaundice, Hepatosplenomegaly, Acute pan... |
ORPHA:444490 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceri... |
ORPHA:435660 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Hepatomegaly, Hyperammonemia, Elevated hepatic transaminase, Decreased plasma ... |
OMIM:212140 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Hypospadias, Elevated h... |
OMIM:301045 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, A... |
ORPHA:412 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... |
ORPHA:228308 |
Alpha-Thalassemia Myelodysplasia Syndrome |
|
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:300448 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hypertriglyceridemia, Cirrhosis, Hepatic steatosis, Hepatomegaly |
ORPHA:363400 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, ... |
OMIM:232400 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia, Hepatomegaly, Micropenis |
OMIM:618810 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Elevated circulating ... |
OMIM:201475 |
Squalene Synthase Deficiency |
|
Hypospadias, Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cho... |
OMIM:618156 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Hepatomegaly, Cirrhosis, Increased C-peptide level, Hypertriglyceridemia, Hype... |
ORPHA:528 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperuricemia, Hepatic ... |
OMIM:604367 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Hepatomegaly, Hyperglycinuria, Decreased plasma carnitine, Elevated hepatic transaminase, Medium ... |
OMIM:201450 |
Liver Failure, Infantile, Transient |
|
Microvesicular hepatic steatosis, Hepatomegaly, Hyperbilirubinemia, Acute hepatic failure, 3-hydr... |
OMIM:613070 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Splenomegaly, Acute hepatic failure, Hyperammonemia, Short stature, Cholestasis, El... |
OMIM:618641 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Renal steatosis, Hepatic steatosis, Hepatic failure |
OMIM:261650 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:618234 |
Glycogen Storage Disease Ixc |
|
Growth delay, Hepatomegaly, Splenomegaly, Increased hepatic glycogen content, Cirrhosis, Elevated... |
OMIM:613027 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly |
OMIM:615381 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Hepatic steatosis, Proteinuria, Microscopic hematuria |
ORPHA:79087 |
Potocki-Lupski Syndrome |
|
Failure to thrive, Small for gestational age, Short stature, Abnormal renal morphology, Hypochole... |
OMIM:610883 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Lymphoma, Acute pancreatitis, ... |
ORPHA:79086 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hyperprolinemia, Hepatic steatosis |
OMIM:615918 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Hepatic steatosis, Hepatomegaly, Hepatic failure |
OMIM:617872 |
Porphyria Cutanea Tarda |
|
Increased circulating ferritin concentration, Porphyrinuria, Viral hepatitis, Periportal fibrosis... |
ORPHA:101330 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Macrovesicular ... |
OMIM:600649 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Ketonuria, Hepatomegaly, Hepatic failure, Low plasma citrulline, Renal steatosis, Elevated circul... |
OMIM:261680 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly |
OMIM:183350 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Failure to thrive, Nephrotic syndrome, Hepatomegaly, Steatorrhea, Elevated hepatic transaminase, ... |
OMIM:212065 |
Galactosemia I |
|
Decreased liver function, Increased level of galactitol in urine, Failure to thrive, Hepatomegaly... |
OMIM:230400 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Micronodular cirrhosis, Short stature, Abnormal circulating creatine kinase concent... |
ORPHA:98907 |
Galactokinase Deficiency |
|
Increased level of galactitol in urine, Failure to thrive, Hepatomegaly, Small for gestational ag... |
ORPHA:79237 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased circulating apolipoprotein C-II concentration... |
OMIM:207750 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Poikilocytosis... |
OMIM:615631 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... |
ORPHA:189439 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Nephrolithiasis, Paradoxical increased cortisol secretion on dexamethasone suppression test, Pitu... |
ORPHA:189427 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hepatomegaly, Splenomegal... |
OMIM:613673 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Poikilocytosis, Anemia |
OMIM:615234 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated alpha-fetoprotein, Cirrhosis, Elevated circulating aspartate aminotransfer... |
OMIM:619662 |
Immunodeficiency 69 |
|
Failure to thrive, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Thrombocytosis, Pancytopenia, ... |
OMIM:618963 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Splenomegaly, Anemia, Anisocytosis, Poikilocytosis, Congenital hemolytic anemia, Chronic hemolyti... |
ORPHA:766 |
Fanconi-Bickel Syndrome |
|
Failure to thrive, Growth delay, Hypophosphatemia, Hepatomegaly, Renal tubular acidosis, Hepatic ... |
ORPHA:2088 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Hypertriglyceridemia, Glomerulopathy, Hepatic steatosis |
ORPHA:2348 |
Primary Lipodystrophy |
|
Hyperlipidemia, Pancreatitis, Splenomegaly, Cirrhosis, Hepatic steatosis |
ORPHA:90970 |
Galactose Mutarotase Deficiency |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Hypergalactosemia, Cholestasis |
ORPHA:570422 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Increased mean corpuscular volume, Hepatomegaly, Splenomegaly, Anisopoikilocytosis, Acanthocytosi... |
OMIM:616689 |
Hemochromatosis, Type 2B |
|
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hep... |
OMIM:613313 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal urine output, Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Per... |
ORPHA:567548 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Renal cortical cysts, Glycosuria, Elevated circulating glutaric acid conc... |
OMIM:231680 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Decreased body weight, Short stature, Abetalipoproteinemia, Elevated circulating creatine kinase ... |
ORPHA:96180 |
Pparg-Related Familial Partial Lipodystrophy |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Cirrhosis, Hypertriglyceridemia, Hyperuricemia, Hepatic... |
ORPHA:79083 |
Immunodeficiency 47 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hepatomegaly, Splenomegaly, Cirrhosis, Acce... |
OMIM:300972 |
Alstrom Syndrome |
|
Chronic active hepatitis, Hepatomegaly, Nephritis, Short stature, Decreased HDL cholesterol conce... |
OMIM:203800 |
Aicardi-Goutieres Syndrome 9 |
|
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Weight loss, Intrauterine grow... |
OMIM:619487 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hyperammonemia, Acute hepati... |
ORPHA:99901 |
Abetalipoproteinemia |
|
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi... |
ORPHA:14 |
Diamond-Blackfan Anemia 3 |
|
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... |
OMIM:610629 |
Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Failure to thrive, Acute hyperammonemia, Elevated urinary 3-methylcrotonylglycine level, Ketonuri... |
OMIM:210200 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase |
OMIM:264470 |
Overhydrated Hereditary Stomatocytosis |
|
Splenomegaly, Anisocytosis, Abnormal mean corpuscular volume, Hemolytic anemia, Decreased mean co... |
ORPHA:3203 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Elevated hepatic transaminase, H... |
OMIM:616278 |
Infantile Liver Failure Syndrome 1 |
|
Failure to thrive, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, Hepatic st... |
OMIM:615438 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... |
ORPHA:69663 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concentration, Elevated hepati... |
OMIM:212138 |
Seckel Syndrome 10 |
|
Severe short stature, Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase co... |
OMIM:617253 |
Interstitial Lung And Liver Disease |
|
Failure to thrive, Hepatomegaly, Aminoaciduria, Hepatic failure, Hyperammonemia, Cirrhosis, Eleva... |
OMIM:615486 |
Ddost-Cdg |
|
Failure to thrive, Nephrotic range proteinuria, Short stature, Elevated hepatic transaminase, Hep... |
ORPHA:300536 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatic steatosis, Pancreatitis, Hepatomegaly |
ORPHA:79084 |
Beta-Thalassemia |
|
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hepatitis, Microcytic anemia, An... |
ORPHA:848 |
Lysosomal Acid Lipase Deficiency |
|
Hepatic failure, Steatorrhea, Weight loss, Jaundice, Abnormal urine potassium concentration, Elev... |
ORPHA:275761 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Failure to thrive, Hepatomegaly, Hyperbilirubinemia, Splenomegaly, Hepatic failure, Steatorrhea, ... |
OMIM:235555 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Sickle Cell Anemia |
|
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... |
ORPHA:232 |
Red Cell Phospholipid Defect With Hemolysis |
|
Reticulocytosis, Intermittent jaundice, Splenomegaly |
OMIM:179700 |
Wilson Disease |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, Elevated hepatic... |
ORPHA:905 |
Hyperlipoproteinemia, Type Id |
|
Failure to thrive, Hyperlipoproteinemia, Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL ... |
OMIM:615947 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Intrauterine growth retardation, Hepatic failure, Hepatosplenomegaly, Cholestasis, Elevated hepat... |
ORPHA:541423 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Cholelithiasis, Anemia of inadequate production, Splenomegaly, Reticulocytosis, Jaundice |
OMIM:224100 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Short s... |
OMIM:256810 |
Fructose Intolerance, Hereditary |
|
Failure to thrive, Hypophosphatemia, Hepatomegaly, Jaundice, Hyperbilirubinemia, Transient aminoa... |
OMIM:229600 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Urinary bladder sphincter dysfunction, Elevated circulating creatine kinase concentration, Hepati... |
ORPHA:52430 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Hepatic failure, Cirrhosis, Steatorrhea, Elevated ... |
OMIM:613812 |
3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, 3-Methylglutaric aciduria, Hypospadias, Glutaric aciduria, Post... |
OMIM:610198 |
Harderoporphyria |
|
Increased circulating ferritin concentration, Increased urine harderoporphyrin level, Hepatomegal... |
OMIM:618892 |
Wilson Disease |
|
Hepatomegaly, Hepatic failure, Elevated circulating aspartate aminotransferase concentration, Gly... |
OMIM:277900 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatosple... |
OMIM:616860 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... |
OMIM:619418 |
Osteootohepatoenteric Syndrome |
|
Failure to thrive, Hypokalemia, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux,... |
OMIM:619377 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Cholestasis |
OMIM:614924 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Renal tubular acidosis, Hepatomegaly, Hepatic failure, Elevated hepatic transaminase, Transient h... |
ORPHA:156 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Short stature, Increased hepatic glycogen content, Chronic hepatitis, Elevated circ... |
OMIM:614921 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Hepatomegaly, Recurrent tonsillitis, Splenomegaly, Microcytic anemia, Lymphadenopathy |
OMIM:618852 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Pancreatitis, Hepatomegaly, Hepatocellular adenoma, Enlarged kidney, Proteinuria, Hyperuricemia, ... |
ORPHA:79259 |
Hb Bart'S Hydrops Fetalis |
|
Anemia, Abnormal hemoglobin, Hepatomegaly, Splenomegaly |
ORPHA:163596 |
Dubin-Johnson Syndrome |
|
Abnormal urinary color, Hepatomegaly, Biliary tract abnormality, Conjugated hyperbilirubinemia, J... |
ORPHA:234 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarged kidney, Ele... |
OMIM:608836 |
Beta-Thalassemia |
|
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio |
OMIM:613985 |
Alpha-Thalassemia |
|
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:604131 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Hepatomegaly, Neutropenia, Leukocytosis, Splen... |
ORPHA:75564 |
Glycogen Storage Disease Ic |
|
Chronic pancreatitis, Hyperlipidemia, Hepatomegaly, Hepatoblastoma, Decreased glomerular filtrati... |
OMIM:232240 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating creatine kinase concentration... |
OMIM:613327 |
Cryohydrocytosis |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Splenomegaly |
OMIM:185020 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Failure to thrive, Methioninuria, Pancreatitis, Homocystinuria, Hyperhomocystinemia, Hypermethion... |
OMIM:236200 |
19P13.12 Microdeletion Syndrome |
|
Intrauterine growth retardation, Hyperlipidemia, Hypospadias, Obesity, Hepatic steatosis |
ORPHA:254346 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Myoglobinuria, Dicarboxylic aciduria, Growth delay, Hepatic necrosis, ... |
OMIM:231530 |
Secondary Intestinal Lymphangiectasia |
|
B-cell lymphoma, Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Cir... |
ORPHA:90363 |
Dpm1-Cdg |
|
Failure to thrive, Hepatomegaly, Hepatosplenomegaly, Elevated circulating creatine kinase concent... |
ORPHA:79322 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy |
ORPHA:66661 |
Erythrocytosis, Familial, 8 |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Polycythemia, Normocytic anemia, C... |
OMIM:222800 |
Adrenomyodystrophy |
|
Failure to thrive, Short stature, Abnormality of the urinary system, Hepatic steatosis, Megacystis |
ORPHA:977 |
Biliary Atresia, Extrahepatic |
|
Hepatomegaly, Hyperbilirubinemia, Cirrhosis, Elevated hepatic transaminase, Increased total bilir... |
OMIM:210500 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Small for gestational age, Anisocyto... |
OMIM:224120 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Renal tubular acidosis, Postnatal growth retardation, Splenomegaly, Short stature, ... |
ORPHA:79240 |
Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia, Hepatosplenomegaly, Left ventricular hypertrophy |
ORPHA:31150 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hepatomegaly, Steatorrhea, Hepatic failure, Cirrhosis, Renal cyst, Hepatic fib... |
OMIM:602579 |
Neutral Lipid Storage Myopathy |
|
Chronic pancreatitis, Hepatomegaly, Short stature, Cholecystitis, Abnormal circulating creatine k... |
ORPHA:98908 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Pancreatitis, Splenomegaly, Hepatosplenomegaly, Increased circulating chylomicron... |
OMIM:238600 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Acute pancreatitis, Hypertriglyceridemia, ... |
OMIM:151660 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Short stature, Cirrhosis, Hepatocellular carcinoma... |
OMIM:601847 |
Adrenomyodystrophy |
|
Pituitary corticotropic cell adenoma, Hepatic steatosis |
OMIM:300270 |
Aromatase Deficiency |
|
Growth delay, Hyperlipidemia, Eunuchoid habitus, Obesity, Enlarged polycystic ovaries, Hepatic st... |
ORPHA:91 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Failure to thrive, Giant cell hepatitis, Hepatomegaly, Hyperbilirubinemia, Hepatic failure, Eleva... |
OMIM:214950 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Hepatomegaly, Increased urinary glycerol, Elevated hepatic transaminase, Hyperuricemia, Neonatal ... |
ORPHA:348 |
Autoimmune Hepatitis |
|
Viral hepatitis, Splenomegaly, Cirrhosis, Hepatocellular carcinoma, Sclerosing cholangitis, Fulmi... |
ORPHA:2137 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia |
OMIM:615085 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Spherocytosis, Type 2 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:616649 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Decreased liver function, Failure to thrive, Hepatic steatosis |
ORPHA:70472 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Decreased liver function, Hepatomegaly, Renal tubular acidosis, Renal dysplasia, Renal cyst, Rena... |
OMIM:614922 |
Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Glycosuria, Hypopl... |
ORPHA:699 |
Solute carrier family 4 (anion exchanger), member 1 |
|
Spherocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia, Elliptocytosis, Stomatocytosis, Re... |
OMIM:109270 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Failure to thrive, Hepatomegaly, Steatorrhea, Short stature, Pancreatic fibrosis, Hepatic fibrosi... |
OMIM:616263 |
Glycogen Storage Disease Ia |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232200 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Normocytic anemia, Cholecystitis, ... |
OMIM:235700 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Jaundice, Aplasia/Hypoplasia of the pancreas, Papillary cystadenoma of the epididymis, Abnormalit... |
ORPHA:93111 |
Spherocytosis, Type 4 |
|
Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:612653 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Cirrhosis, Cachexia, Macrovesicular hepatic steatosis, Elevated hepatic transaminase, Hyperalanin... |
ORPHA:298 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Renal tubular dysfunction, Decreased liver function, Failure to thrive, Hepatomegaly, Aminoacidur... |
ORPHA:436271 |
Isolated Biliary Atresia |
|
Decreased liver function, Failure to thrive, Hepatomegaly, Periportal fibrosis, Dark yellow urine... |
ORPHA:30391 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis, Jaundice |
OMIM:185000 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hypophosphatemia, Hepatomegaly, Aminoaciduria, Short stature, Glycosuria, Large for gestational a... |
OMIM:616026 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Decreased liver function, Failure to thrive, Macrovesicular hepatic steatosis, Elevated hepatic t... |
OMIM:618329 |
Alg12-Cdg |
|
Failure to thrive, Micropenis, Hypospadias, Elevated hepatic transaminase, Hypocholesterolemia, H... |
ORPHA:79324 |
Glycogen Storage Disease Ib |
|
Nephrolithiasis, Hyperlipidemia, Pancreatitis, Hepatomegaly, Decreased glomerular filtration rate... |
OMIM:232220 |
Spherocytosis, Type 1 |
|
Cholelithiasis, Spherocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis, Jaundice |
OMIM:182900 |
Dubowitz Syndrome |
|
Neuroblastoma, Short stature, Hypospadias, Lymphoma, Hypocholesterolemia, Postnatal growth retard... |
OMIM:223370 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Microvesicular hepatic steatosis, Hepati... |
OMIM:203700 |
Lysinuric Protein Intolerance |
|
Increased circulating ferritin concentration, Pancreatitis, Hepatomegaly, Decreased glomerular fi... |
ORPHA:470 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Nephrolithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Acute pancreatitis, Elevated hepatic tran... |
OMIM:608594 |
Dehydrated Hereditary Stomatocytosis |
|
Cholelithiasis, Anemia of inadequate production, Increased mean corpuscular volume, Nonspherocyti... |
ORPHA:3202 |
Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Bone ma... |
OMIM:618849 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Decreased hemoglobin concentration, Cholecystitis, Ch... |
OMIM:266200 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Immunodeficiency 87 And Autoimmunity |
|
Intrauterine growth retardation, Hodgkin lymphoma, Hypokalemia, Hepatomegaly, Elevated circulatin... |
OMIM:619573 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Pancreatitis, Hepatomegaly, Splenomegaly, Decreased HDL cholesterol concentration, Hypertriglycer... |
ORPHA:280365 |
Dilated Cardiomyopathy With Ataxia |
|
Microvesicular hepatic steatosis, Hypoplasia of penis, Elevated circulating glutaric acid concent... |
ORPHA:66634 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Nephrolithiasis, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated hemoglobin A1c, Acute pancreatit... |
OMIM:269700 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Elliptocytosis 1 |
|
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly |
OMIM:611804 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Flexion contracture, Splenomegaly, Generalized lipodystrophy, Autoimmune hemolytic ... |
OMIM:619183 |
Monosomy 13Q34 |
|
Growth delay, Fetal pyelectasis, Infantile hypercalcemia, Hepatic steatosis, Obesity |
ORPHA:96168 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Intrauterine growth retardation, Cholestatic liver disease, Splenomegaly, Unilatera... |
OMIM:270400 |
Beta-Thalassemia Intermedia |
|
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Abnormality o... |
ORPHA:231222 |
D-Bifunctional Protein Deficiency |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Cholestasis, Elevated hepatic transaminase, Renal ... |
OMIM:261515 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Failure to thrive, Microvesicular hepatic steatosis, Hyperammonemia |
OMIM:616672 |
Mucopolysaccharidosis-Plus Syndrome |
|
Nephrotic syndrome, Hepatomegaly, Nephritis, Renal tubular atrophy, Splenomegaly, Macrovesicular ... |
OMIM:617303 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Failure to thrive, Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets |
OMIM:220111 |
Chanarin-Dorfman Syndrome |
|
Hepatic steatosis, Hepatomegaly |
OMIM:275630 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Renal cyst, 3-Methylglutaconic aciduria, Renal insufficiency, Neph... |
ORPHA:445038 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hypokalemia, Hepatomegaly, Elevated alpha-fetoprotein, Recurrent urinary tract infections, Multip... |
OMIM:613095 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Lung adenocarcinoma, ... |
ORPHA:1501 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Renal tubular dysfunction, Decreased liver function, Failure to thrive, Hepatomegaly, Aminoacidur... |
OMIM:220110 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Hemophagocytosis, Splenomegaly, Pancytopenia, Anemia, Panniculitis |
OMIM:618398 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Intrauterine growth retardation, Hepatomegaly, Short stature, Elevated circulating creatine kinas... |
OMIM:615356 |
Bloom Syndrome |
|
Intrauterine growth retardation, Postnatal growth retardation, Small for gestational age, Elevate... |
OMIM:210900 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:314050 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Neoplasm, Micropenis, Short stature, Hypospadias, Small for gestational... |
ORPHA:2959 |
Kaufman Oculocerebrofacial Syndrome |
|
Failure to thrive, Hypocholesterolemia, Short stature |
OMIM:244450 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Cholelithiasis, Hepatomegaly, Splenomegaly, Increased red cell hemolysis by shear stress, Increas... |
OMIM:194380 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypocalcemia, Left ventricular hypertrophy, Cholestasis, Diffuse hepatic steatosis, Chronic hepat... |
ORPHA:746 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Slender build, Decreased liver function, Intrauterine growth retardation, Hypocalcemia, Failure t... |
OMIM:613658 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Lipid accumulation in hepatocytes, Hepatomegaly, 3-Methylglutaric aciduria, Hyperammon... |
ORPHA:20 |
Beta-Thalassemia Major |
|
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, E... |
ORPHA:231214 |
Dominant Beta-Thalassemia |
|
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Cirr... |
ORPHA:231226 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Poikilocytosis, Fava bean-induced hemolyt... |
OMIM:300908 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Hepatic failure, Splenomegaly, Cirrhosis, Sclerosing cholangitis, Cholestasis, Duct... |
OMIM:617394 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Liver Disease, Severe Congenital |
|
Increased circulating ferritin concentration, Exocrine pancreatic insufficiency, Hepatomegaly, He... |
OMIM:619991 |
Hereditary Elliptocytosis |
|
Cholelithiasis, Stomatocytosis, Splenomegaly, Hemolytic anemia, Poikilocytosis, Congenital hemoly... |
ORPHA:288 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Hypoalbumin... |
ORPHA:86816 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Short stature, Elevated hemoglobin A1c, Left ventricular hypertrophy, Macrovesicula... |
OMIM:619127 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypospadias, Hypertriglyceridemia, Laryngeal carcinoma, Hypercholesterolemia, Carcinoma |
OMIM:610644 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Cholelithiasis, Nonspherocytic hemolytic anemia, Splenomegaly, Spontaneous hemolytic crises, Impa... |
OMIM:613470 |
Primary Familial Polycythemia |
|
Polycythemia, Abnormal hemoglobin |
ORPHA:90042 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Failure to thrive, Hepatomegaly, Abnormal renal collecting system morphology, Hypospadias, Methyl... |
ORPHA:17 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Aminoaciduria, Cho... |
OMIM:124000 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Dicarboxylic aciduria, Microvesicular hepatic steatosis, Hepatic f... |
OMIM:611126 |
Visceral Steatosis, Congenital |
|
Renal steatosis, Hypocalcemia, Hepatic steatosis, Jaundice |
OMIM:228100 |
Tyrosinemia, Type I |
|
Hepatomegaly, Hepatic failure, Enlarged kidney, Hypermethioninemia, Hypertyrosinemia, Splenomegal... |
OMIM:276700 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Methemoglobinemia, Polycythemia |
OMIM:250800 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
|
Neutropenia in presence of anti-neutropil antibodies, Splenomegaly, B lymphocytopenia, T lymphocy... |
ORPHA:231154 |
Hereditary Methemoglobinemia |
|
Methemoglobinemia, Small for gestational age |
ORPHA:621 |
3-Methylglutaconic Aciduria, Type Viib |
|
Rhizomelia, 3-Methylglutaconic aciduria, Growth delay, Hepatic steatosis, Intrauterine growth ret... |
OMIM:616271 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Hepatoblastoma, Cholestasis, Enlarged kidney, Jaundice, Pancreatic cysts, Sta... |
ORPHA:731 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16 |
|
HbH hemoglobin, Failure to thrive, Microcytic anemia, Flexion contracture |
ORPHA:98791 |
Diamond-Blackfan Anemia 6 |
|
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia |
OMIM:612561 |
Homozygous Familial Hypercholesterolemia |
|
Hyperlipidemia, Increased LDL cholesterol concentration, Renal steatosis, Hypercholesterolemia, H... |
ORPHA:391665 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Hiatus hernia, Persistence of hemoglobin F, Umbilical hernia, Overweight, Increased size of nasop... |
OMIM:619769 |
Arima Syndrome |
|
Hepatomegaly, Renal tubular atrophy, Nephronophthisis, Tubulointerstitial fibrosis, Polycystic ki... |
OMIM:243910 |
Atypical Werner Syndrome |
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Failure to thrive, Decreased body weight, Ovarian neoplasm, Renal neoplasm, Short stature, Neopla... |
ORPHA:79474 |
Aicardi-Goutieres Syndrome 7 |
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Increased circulating ferritin concentration, Intrauterine growth retardation, Nephrotic syndrome... |
OMIM:615846 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Abdominal obesity, Intrauterine growth retardation, Micropenis, Short stature, Azotemia, Renal hy... |
OMIM:619321 |
Primary Hyperoxaluria Type 1 |
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Nephrolithiasis, Dysuria, Failure to thrive, Decreased glomerular filtration rate, Recurrent urin... |
ORPHA:93598 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Failure to thrive, Microvesicular hepatic steatosis, Micronodular cirrhosis, Hepatomegaly, Spleno... |
ORPHA:404454 |
Hypercholesterolemia, Familial, 2 |
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Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Gardner Syndrome |
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Hepatoblastoma, Adrenocortical adenoma, Odontoma, Small intestine carcinoid, Adrenocortical carci... |
ORPHA:79665 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Hepatocellular necrosis, Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Hepat... |
OMIM:618278 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Intrauterine growth retardation, Cholestatic liver disease, Hyperlipidemia, Renal hypoplasia/apla... |
ORPHA:99413 |
Turner Syndrome |
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Intrauterine growth retardation, Cholestatic liver disease, Hyperlipidemia, Renal hypoplasia/apla... |
ORPHA:881 |
Mosaic Monosomy X |
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Intrauterine growth retardation, Cholestatic liver disease, Hyperlipidemia, Renal hypoplasia/apla... |
ORPHA:99228 |
Monosomy X |
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Intrauterine growth retardation, Cholestatic liver disease, Hyperlipidemia, Renal hypoplasia/apla... |
ORPHA:99226 |
Familial Adenomatous Polyposis |
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Cholangiocarcinoma, Pancreatitis, Hepatoblastoma, Stomach cancer, Soft tissue neoplasm, Odontoma,... |
ORPHA:733 |
Familial Adenomatous Polyposis 1 |
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Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade... |
OMIM:175100 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Failure to thrive, Hepatomegaly, Splenomegaly, Membranoproliferative glomerulonephritis, Elevated... |
OMIM:619525 |
Methemoglobinemia And Ambiguous Genitalia |
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Methemoglobinemia |
OMIM:250790 |
Shwachman-Diamond Syndrome 1 |
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Failure to thrive, Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Small for gestat... |
OMIM:260400 |
Cimdag Syndrome |
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Cholelithiasis, Microvesicular hepatic steatosis, Hepatomegaly |
OMIM:619273 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Microvesicular hepatic steatosis, Hepatomegaly, Micropenis, Cirrhosis, Bilateral fetal pyelectasi... |
OMIM:300868 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Intrauterine growth retardation, Failure to thrive, Decreased body weight, Abnormal abdomen morph... |
OMIM:619475 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
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Intrauterine growth retardation, Hepatic steatosis, Urinary incontinence |
OMIM:619934 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
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HbH hemoglobin, Obesity, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia |
OMIM:141750 |
Alström Syndrome |
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Pancreatitis, Hepatomegaly, Abnormal liver physiology, Hepatic failure, Urinary retention, Stage ... |
ORPHA:64 |
Thymoma |
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Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Weight loss, Leukemia |
ORPHA:99867 |
1P36 Deletion Syndrome |
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Annular pancreas, Failure to thrive, Neuroblastoma, Hypoplasia of penis, Short stature, Abnormali... |
ORPHA:1606 |
Wiedemann-Rautenstrauch Syndrome |
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Slender build, Severe intrauterine growth retardation, Intrauterine growth retardation, Failure t... |
ORPHA:3455 |
Acquired Methemoglobinemia |
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Methemoglobinemia |
ORPHA:464453 |
Blackfan-Diamond Anemia |
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Increased mean corpuscular volume, Neutropenia, Small for gestational age, Persistence of hemoglo... |
ORPHA:124 |
Digeorge Syndrome |
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Cholelithiasis, Hypocalcemia, Splenomegaly, Unilateral renal agenesis, Short stature, Renal dyspl... |
OMIM:188400 |
Ogden Syndrome |
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Intrauterine growth retardation, Global glomerulosclerosis, Microvesicular hepatic steatosis, Hyp... |
OMIM:300855 |
Lead Poisoning |
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Anemia, Abnormal T cell morphology, Imbalanced hemoglobin synthesis, Small for gestational age |
ORPHA:330015 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
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Anemia, Abnormal hemoglobin, Flexion contracture |
ORPHA:847 |
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked |
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HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Umbilical hernia |
OMIM:301040 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Failure to thrive, Hypomagnesemia, Hypocalcemia, Micropenis, Unilateral renal agenesis, Hepatospl... |
OMIM:619503 |