Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, ... |
OMIM:232700 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Fever, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly |
OMIM:619175 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Proximal Myopathy With Focal Depletion Of Mitochondria |
|
Elevated circulating creatine kinase concentration |
OMIM:600706 |
Glycine N-Methyltransferase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619868 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... |
OMIM:616829 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Hypertriglyc... |
OMIM:612526 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
OMIM:615703 |
Congenital Disorder Of Glycosylation, Type Icc |
|
Hepatomegaly |
OMIM:301031 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia |
ORPHA:366 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:620010 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... |
OMIM:610717 |
Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... |
OMIM:231100 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... |
OMIM:616828 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
ORPHA:94124 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Large for gesta... |
ORPHA:324575 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71526 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased LDL cholester... |
OMIM:616516 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia |
OMIM:607250 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipi... |
ORPHA:1414 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Abnormal circulating enzyme co... |
ORPHA:79303 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Decreased HDL cholesterol concentration, Conjugated hyperbilirubinemia, Microvesicular hepatic st... |
OMIM:605814 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Conjugated hyperbilirubinemia, Spleno... |
OMIM:214900 |
Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Malabsorption, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density, H... |
ORPHA:172 |
Fetal Cytomegalovirus Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:294 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Malabsorption, Splenome... |
ORPHA:79301 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... |
ORPHA:75234 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... |
OMIM:607765 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:2274 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Decreased HDL cholesterol concentration, Hepatic fibrosis, Elevated gamma-... |
OMIM:278000 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Hypertriglyceridemia, Acne, Recurrent skin infections, Erythema nodosum, Splenomega... |
OMIM:300635 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hy... |
ORPHA:329249 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating alpha-f... |
ORPHA:64753 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Fever, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Increased circulating ferritin... |
OMIM:603552 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Truncal ataxia, Limb ataxia, ... |
OMIM:208920 |
Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Conjugated hyperbilirubinemia, Jaundice, I... |
ORPHA:3111 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Prominent superficial veins, Diabetes mellitus, Lipodystrophy, Hypertriglyceridemia... |
ORPHA:528 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Elevated circulating C-reactive protein concentration, Squamous cell carcinoma, Prostate cancer, ... |
ORPHA:158057 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Pancreatitis |
OMIM:246650 |
Glycogen Storage Disease Ixa1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... |
OMIM:306000 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Maternal diabetes, Large for gestation... |
ORPHA:276580 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Fever, Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Excessive insulin response to glucagon test, Large for gestational age, Increased C... |
ORPHA:276575 |
Mulibrey Nanism |
|
Hepatomegaly, Cachexia |
ORPHA:2576 |
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency |
|
Increased circulating lactate dehydrogenase concentration, Hepatomegaly, Elevated circulating ala... |
OMIM:605911 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased HDL ... |
OMIM:604367 |
Wolman Disease |
|
Fever, Hepatomegaly, Cachexia, Splenomegaly, Ascites, Steatorrhea, Hepatic failure |
ORPHA:75233 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hypertriglyceridemia, Hepatic steatosis |
ORPHA:436182 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Increa... |
OMIM:607616 |
Crigler-Najjar Syndrome Type 1 |
|
Biliary tract abnormality, Abnormality of the liver, Unconjugated hyperbilirubinemia, Prolonged n... |
ORPHA:79234 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Jaundice, Glossoptos... |
OMIM:614876 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia |
OMIM:615924 |
Hypercholanemia, Familial, 2 |
|
Osteopenia, Increased serum bile acid concentration, Unconjugated hyperbilirubinemia, Prolonged n... |
OMIM:619256 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Elevated hepatic transaminase, Diabet... |
OMIM:615381 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Large for gestational age, Reactive hypoglycemia, Increased C-peptide level, Hypogl... |
ORPHA:276556 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Diabetes mellitus, Membranoproliferative glomerulonephritis, Polycystic ovaries, Progressive loss... |
OMIM:608709 |
Edinburgh Malformation Syndrome |
|
Jaundice, Failure to thrive, Neonatal hyperbilirubinemia |
OMIM:129850 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Hepatomegaly |
ORPHA:79281 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
Isolated Growth Hormone Deficiency, Type Ia |
|
Decreased serum insulin-like growth factor 1, Hypoglycemia, Reduced circulating growth hormone co... |
OMIM:262400 |
Neonatal Hemochromatosis |
|
Hypoglycemia, Congenital hepatic fibrosis, Increased circulating ferritin concentration, Increase... |
ORPHA:446 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... |
OMIM:603471 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia |
OMIM:613752 |
Porphyria Cutanea Tarda |
|
Abnormal circulating porphyrin concentration, Elevated hepatic iron concentration, Hepatic steato... |
ORPHA:101330 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Galactosemia Iii |
|
Hepatomegaly, Splenomegaly, Jaundice, Decreased beta-galactosidase activity, Hypergalactosemia, F... |
OMIM:230350 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... |
OMIM:616278 |
Bile Acid Synthesis Defect, Congenital, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, He... |
OMIM:235555 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis, Hypoalbuminemia |
OMIM:620357 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis, Mildly elevated creatine kinase |
OMIM:618400 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Cholangiocarcinoma |
|
Biliary tract neoplasm, Acholic stools, Jaundice, Anorexia |
ORPHA:70567 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Polycystic ov... |
ORPHA:79084 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia, Anemia |
OMIM:603278 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight, Ascites, Increased ... |
ORPHA:890 |
Ataxia-Oculomotor Apraxia 4 |
|
Ataxia, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Dystonia, Hypercho... |
OMIM:616267 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... |
OMIM:616860 |
Hyperbilirubinemia, Shunt, Primary |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... |
ORPHA:363400 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... |
OMIM:615980 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipoatrophy, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Hypersex... |
ORPHA:905 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbiliru... |
OMIM:211600 |
Dubin-Johnson Syndrome |
|
Conjugated hyperbilirubinemia, Jaundice, Biliary tract abnormality |
OMIM:237500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hyperalaninemia, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase conc... |
OMIM:619048 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Hypoalbuminemia, Steatorrhea, Hypotriglyceridemia, Hypoc... |
OMIM:246700 |
Galactokinase Deficiency |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Small for gestational age, H... |
ORPHA:79237 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypouricemia, Elevated circulating aspartate a... |
OMIM:227810 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Adipose tissue loss, Increased intraabdominal fat, Hyper... |
OMIM:151660 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased sarcoplasmic glycogen, Increased bo... |
ORPHA:264580 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Elevated cir... |
OMIM:251880 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hypoglycemia, Hyperlipidemia, Osteoporos... |
ORPHA:369 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hypertriglyceridemia, Hepatic failure |
OMIM:177000 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Fever, Hepatomegaly, Failure to thrive, Elevated circulating creatinine concentration, Increased ... |
OMIM:617872 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Anorexia, Elevated c... |
OMIM:619386 |
Hepatoportal Sclerosis |
|
Portal vein thrombosis, Leukopenia, Hypoalbuminemia, Portal hypertension, Intrahepatic portal vei... |
ORPHA:64743 |
Graft Versus Host Disease |
|
Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Stiff interphalangeal... |
ORPHA:39812 |
Cog7-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:79333 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia |
OMIM:610947 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia |
OMIM:614379 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Joint stiffness, Insulin resistance, Multiple lipomas, Abnormal adipose tissue morp... |
ORPHA:2398 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Obesity, Increased LDL cholesterol concentration, A... |
ORPHA:209902 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... |
ORPHA:69663 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Elevated circulating aspartate... |
OMIM:214950 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Elevated gamma-glutamyltransferase leve... |
ORPHA:247598 |
Bile Acid Conjugation Defect 1 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hypertriglyceridemia, Lipodystrophy, Ele... |
OMIM:613327 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa... |
ORPHA:263501 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia, Hemolytic anemia |
OMIM:245900 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Crigler-Najjar Syndrome Type 2 |
|
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice |
ORPHA:79235 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating aspartate ami... |
OMIM:615558 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... |
ORPHA:567983 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Type I diabetes melli... |
OMIM:618549 |
Galactosemia Iv |
|
Hypergalactosemia, Prolonged neonatal jaundice |
OMIM:618881 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Increased circulating ferritin conce... |
OMIM:606069 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Fever, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosp... |
OMIM:613101 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Splenomegaly, Intermittent... |
OMIM:601847 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:42 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenome... |
OMIM:612714 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia, Increased ... |
ORPHA:71 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Hepatitis |
ORPHA:444463 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Galactose Epimerase Deficiency |
|
Splenomegaly, Hepatomegaly, Jaundice, Weight loss |
ORPHA:79238 |
Galactosemia Ii |
|
Hypergalactosemia, Prolonged neonatal jaundice |
OMIM:230200 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Progeroid facial appearance, Insulin resistance, Lymphocytosis, Hepatic steatosis |
ORPHA:79087 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Beta-Thalassemia Intermedia |
|
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... |
ORPHA:231222 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Malabsorption, Intrahepatic cholestasis, Jaundice, S... |
OMIM:602347 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Elevated hepatic transamina... |
OMIM:608594 |
Hyperbilirubinemia, Rotor Type |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237450 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia |
ORPHA:88643 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia, Polyphagia, Obesity |
OMIM:620195 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... |
OMIM:613404 |
Isolated Biliary Atresia |
|
Conjugated hyperbilirubinemia, Elevated gamma-glutamyltransferase level, Hypothyroidism, Hepatome... |
ORPHA:30391 |
Undifferentiated Pleomorphic Sarcoma |
|
Abnormal peritoneum morphology, Soft tissue sarcoma, Fever, Weight loss |
ORPHA:2023 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Joint laxity, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... |
OMIM:617093 |
Rft1-Cdg |
|
Hepatomegaly, Failure to thrive |
ORPHA:244310 |
Isolated Polycystic Liver Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Polycystic liver disease, Abnormality of the pancreas,... |
ORPHA:2924 |
Alg6-Cdg |
|
Abnormal circulating enzyme concentration or activity, Puberty and gonadal disorders, Jaundice, D... |
ORPHA:79320 |
Reticuloendotheliosis, X-Linked |
|
Jaundice, Lymphadenopathy, Anemia, Hepatosplenomegaly |
OMIM:312500 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Jaundice, Familial Obstructive, Of Infancy |
|
Jaundice, Neonatal hyperbilirubinemia |
OMIM:308600 |
Crigler-Najjar Syndrome, Type Ii |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:606785 |
Hyperbilirubinemia, Conjugated, Type Iii |
|
Conjugated hyperbilirubinemia, Jaundice |
OMIM:237550 |
Hyperbilirubinemia, Transient Familial Neonatal |
|
Jaundice, Neonatal unconjugated hyperbilirubinemia |
OMIM:237900 |
Lambert Syndrome |
|
Inguinal hernia, Intrahepatic biliary atresia, Jaundice |
OMIM:245550 |
Infantile Sialic Acid Storage Disease |
|
Osteopenia, Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated l... |
OMIM:269920 |
Mantle Cell Lymphoma |
|
Fever, Splenomegaly, B-cell lymphoma, Weight loss |
ORPHA:52416 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Restlessness, Hyperactivity, Hepatomegaly, Decreased HDL cholester... |
ORPHA:247585 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Decreased 3-hydroxyacyl-CoA dehydrogenase level |
OMIM:609016 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Caroli Disease |
|
Liver abscess, Cholangitis, Anorexia, Conjugated hyperbilirubinemia, Hepatic fibrosis, Elevated g... |
ORPHA:53035 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Flexion contracture, High palate, Hyperglycemia, Calcinosis, Hepatomegaly, Lipodystro... |
OMIM:248370 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Anorexia, Jaundice, Weight loss, Acholic stools, Cholestatic liver... |
ORPHA:65682 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Elevated circulating aspartate aminotransferase concentration, Hypothermia, Elevated circulating ... |
OMIM:245400 |
Crigler-Najjar Syndrome, Type I |
|
Jaundice, Unconjugated hyperbilirubinemia |
OMIM:218800 |
Intrinsic Factor Deficiency |
|
Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo... |
OMIM:261000 |
Idiopathic Congenital Hypothyroidism |
|
Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-stimulating hormon... |
ORPHA:95717 |
Coproporphyria, Hereditary |
|
Hepatomegaly, Increased fecal coproporphyrin III:coproporphyrin I ratio, Increased fecal copropor... |
OMIM:121300 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatic steatosis, Hepatomegaly, Elevated hepatic transamina... |
OMIM:269700 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Hypertriglyceridemia, Elevated circulating asparta... |
ORPHA:158061 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Hyper... |
ORPHA:79083 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased proportion of CD4-positive T cells, Jaundi... |
OMIM:301045 |
Desmoplastic Small Round Cell Tumor |
|
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Testicular neop... |
ORPHA:83469 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia |
OMIM:261650 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Osteopenia, Lipodystrophy, Gastroesophageal reflux, Primary hypoth... |
ORPHA:300536 |
Autoimmune Hepatitis |
|
Gastrointestinal hemorrhage, Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic stea... |
ORPHA:2137 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Eosin... |
ORPHA:400 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Fever, Hepatomegaly, B-cell lymphoma, Splenomegaly, Lymphoma, Breast carcinoma, Weight loss |
ORPHA:86893 |
Cystinosis |
|
Portal hypertension, Malabsorption, Nephrogenic diabetes insipidus, Hypothyroidism, Rickets, Hypo... |
ORPHA:213 |
Patent Ductus Venosus |
|
Hypergalactosemia, Hepatic steatosis, Decreased liver function, Hyperammonemia |
OMIM:601466 |
Wilson Disease |
|
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Osteoarthritis, Hypoalb... |
OMIM:277900 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Progeroid facial appearance, Insulin resi... |
ORPHA:79086 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617049 |
Gilbert Syndrome |
|
Elevated hepatic transaminase, Jaundice, Hepatic failure, Unconjugated hyperbilirubinemia |
OMIM:143500 |
Classic Galactosemia |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79239 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Hepatic steatosis, Ketotic h... |
ORPHA:26792 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Systemic Primary Carnitine Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly |
ORPHA:158 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Carcinoid Syndrome |
|
Elevated hepatic transaminase, Hepatic necrosis, Pulmonary carcinoid tumor, Small intestine carci... |
ORPHA:100093 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... |
OMIM:616050 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL... |
OMIM:267700 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Broad-based gait, Hypoalbuminemia, Microcytic anemia |
OMIM:618805 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipoatrophy, Lipod... |
ORPHA:2348 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating alanine aminotransferase... |
OMIM:614300 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Diabetes mellitus, Jejunal atresia, Intestinal malrotation, Malabsorption, Bi... |
OMIM:615710 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Elevated circulating creatine kinase concentration, Card... |
OMIM:201475 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic... |
OMIM:619013 |
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism |
|
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia |
OMIM:206400 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Hypertriglyceride... |
OMIM:608600 |
Galactose Mutarotase Deficiency |
|
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Cholestasis, Hypergalactosem... |
ORPHA:570422 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Osteomyelitis, Sinusitis, Abnormality of the tonsils, Skin... |
ORPHA:47 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 3 |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:615158 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Elevated circulating crea... |
ORPHA:26793 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Pediatric-Onset Graves Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Episcleritis, Craniosynostosis, Puber... |
ORPHA:525731 |
Beta-Thalassemia |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... |
ORPHA:848 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Lambert Syndrome |
|
Inguinal hernia, Failure to thrive in infancy, Jaundice, Cholestasis, Intrahepatic biliary atresia |
ORPHA:1296 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Wolcott-Rallison Syndrome |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Neonatal insuli... |
ORPHA:1667 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin con... |
OMIM:618892 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Tyrosinemia Type 1 |
|
Acute hepatic failure, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma |
ORPHA:882 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Osteopenia, Abnormal eosinophil morphology, Spider hemangioma, Uveitis, He... |
ORPHA:171 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor, Platelet-activating factor acetylhydrolase deficiency |
OMIM:614278 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... |
OMIM:208085 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Go... |
ORPHA:95716 |
Polycystic Liver Disease 1 With Or Without Kidney Cysts |
|
Ascites, Elevated circulating alkaline phosphatase concentration, Polycystic liver disease, Incre... |
OMIM:174050 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Vipoma |
|
Anorexia, Benign gastrointestinal tract tumors, Hepatomegaly, Follicular thyroid carcinoma, Inter... |
ORPHA:97282 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Hypertriglyceridemia, Elevated circulating aspartate aminotransf... |
ORPHA:2088 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic steatosis, He... |
OMIM:231530 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Conjugated hyperbilirubinemia, Mic... |
OMIM:617156 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Intestinal polyposis, Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Attentio... |
ORPHA:210548 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypothermia, Bile duct proliferation, Macrovesicular hepatic steat... |
OMIM:618329 |
Temple Syndrome |
|
Decreased testicular size, Hypertriglyceridemia, Small for gestational age, Maturity-onset diabet... |
OMIM:616222 |
Congenital Toxoplasmosis |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Thromboc... |
ORPHA:858 |
Pulmonary Blastoma |
|
Fever, Pleuropulmonary blastoma, Weight loss |
ORPHA:64741 |
Immunodeficiency 27A |
|
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia, Histiocy... |
OMIM:209950 |
Peroxisome Biogenesis Disorder 7A (Zellweger) |
|
Hepatomegaly, Elevated circulating hexacosanoic acid concentration, Jaundice, Epiphyseal stipplin... |
OMIM:614872 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Periporta... |
OMIM:619484 |
Somatostatinoma |
|
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... |
ORPHA:97283 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Osteopenia, Hepatomegaly, Diabetes mellitus, Increased circulating thyroglobulin level, Portal hy... |
OMIM:610199 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:613070 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dysphagia, ... |
OMIM:264470 |
Babesiosis |
|
Hepatomegaly, Hemolytic anemia, Anorexia, Splenomegaly, Jaundice, Limitation of joint mobility, L... |
ORPHA:108 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Elevated circulating creatine kinase concentration |
OMIM:160570 |
O'Donnell-Luria-Rodan Syndrome |
|
Aggressive behavior, Cryptorchidism, Self-injurious behavior, Skin-picking, Prolonged neonatal ja... |
OMIM:618512 |
Progressive Nodular Histiocytosis |
|
Fever, Cachexia |
ORPHA:158022 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Ataxia, Dysmetria, Increased LDL cholesterol concentration, Xanthelasma, Pr... |
OMIM:277460 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Colitis, Hypoalbuminemia, Neutropenia, Ecchymosis, Infectious encephalitis, Hepatomegaly, Maculop... |
ORPHA:540 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Conjugated hyperb... |
ORPHA:95715 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... |
OMIM:226990 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Abnormal gastric mucosa morphology, Jaundice, Biliar... |
ORPHA:234 |
Late-Onset Isolated Acth Deficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Anorexia, Hashimoto thyroiditis, Hyponat... |
ORPHA:199299 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Decreased HDL cholesterol concentration, Premature graying of hair, Increased intraabdominal fat,... |
ORPHA:280365 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Hepatomegaly, Hyponatremia, Myositis, Pericarditis, Anorexia, Cachex... |
ORPHA:3452 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Recurrent... |
ORPHA:444490 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Hypertriglyceridemia, Hodgkin lymphoma |
OMIM:620282 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Intestinal obstruction, Elevated hepatic transaminase,... |
ORPHA:131 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Abnormal circulating acylcarnitine concentr... |
ORPHA:71212 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Acute pancreatitis, ... |
ORPHA:412 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypogl... |
OMIM:614921 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Cyanosis, Hypoglycemia, Elevated circulating alanine aminotransferase concentration... |
OMIM:261680 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Portal hypertension, Celiac disease, Conjugated hyperbi... |
ORPHA:186 |
Immunodeficiency 104 |
|
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Otitis media, R... |
OMIM:608971 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Congenital Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Hepatitis, ... |
ORPHA:199296 |
Ppoma |
|
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... |
ORPHA:97278 |
Autosomal Agammaglobulinemia |
|
Osteomyelitis, Sinusitis, Skin rash, Recurrent skin infections, Malabsorption, Neutropenia, Hepat... |
ORPHA:33110 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:212140 |
Primary Myelofibrosis |
|
Fever, Hepatomegaly, Portal hypertension, Cachexia, Hematological neoplasm, Splenomegaly, Low-gra... |
ORPHA:824 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:600649 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Reduced red cell pyruvate kinase level, Splenomegaly, Elevated tra... |
ORPHA:766 |
Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Portal hypertension, Flexion contracture, Hepatitis, Cholestasis, Hypochromic mi... |
ORPHA:440713 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Plethora, Increased body weight, Glucose intolerance, Hepatic steatosis, Acne, Osteoporosis, Incr... |
ORPHA:189427 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... |
ORPHA:298 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Interface hepatitis, Elevated serum transaminases during infections, Elevated circulating asparta... |
OMIM:611182 |
Portal Hypertension, Noncirrhotic, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Hyponatremia, Fatal liver failure in infancy, Hypertriglyceridemia... |
ORPHA:275761 |
Glycogen Storage Disease Vii |
|
Hemolytic anemia, Reticulocytosis, Increased circulating lactate dehydrogenase concentration, Ele... |
OMIM:232800 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Hyponatremia, Hypertriglyceridemia, Fever, Increased... |
OMIM:603553 |
Leishmaniasis |
|
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... |
ORPHA:507 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophi... |
ORPHA:829 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Intrahepatic bile duct dilatation, H... |
OMIM:301068 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated circulating creatine kinase concentration, Cardiomegaly, Increased muscle lipid content,... |
OMIM:608836 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:228305 |
Erythroleukemia, Familial, Susceptibility To |
|
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Refractory anemia with ringed sideroblasts, L... |
OMIM:133180 |
Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Abnormality of the liver |
ORPHA:1980 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Abnormal blood ion concentration, Iron deficiency anemia, Tubulointerstitial nephritis,... |
ORPHA:37042 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... |
OMIM:617021 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Macroorchidism, Hypercholesterol... |
ORPHA:90674 |
Congenital Pancreatic Cyst |
|
Jaundice, Pancreatitis, Anorexia |
ORPHA:313906 |
Familial Pancreatic Carcinoma |
|
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Diabetes mellitus, Intestinal pseudo-ob... |
ORPHA:1333 |
Caroli Syndrome |
|
Liver abscess, Cholangitis, Conjugated hyperbilirubinemia, Abnormal intrahepatic bile duct morpho... |
ORPHA:480520 |
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly |
ORPHA:46532 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Hyperlipidemia, Lymphadenopathy, Premature gr... |
ORPHA:79477 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Anorexia, Reticulocytopenia, Neutropenia, Hypoplastic anem... |
OMIM:557000 |
Griscelli Syndrome |
|
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Pyloric stenosis, Jaundice, Hepatitis, Ly... |
ORPHA:381 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Chronic act... |
OMIM:203800 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating enzyme concentration or activity, Elevated circulating thyroid-stimulating h... |
ORPHA:171706 |
Idiopathic Copper-Associated Cirrhosis |
|
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:232400 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Osteomyelitis leading to amputation due ... |
OMIM:256810 |
Cholestasis, Intrahepatic, Of Pregnancy, 1 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Jaundice, Abnormal liver function tests ... |
OMIM:147480 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Glucagonoma |
|
Anorexia, Hepatomegaly, Necrolytic migratory erythema, Acanthocytosis, Intermittent jaundice, Inc... |
ORPHA:97280 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Aggressive behavior, Malformation of the hepa... |
ORPHA:84081 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:618620 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated circula... |
OMIM:605479 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chr... |
ORPHA:100085 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Increased circulating ferritin concentration, Jaundice, Splenomegaly, Hepatitis, Ch... |
OMIM:194380 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... |
OMIM:308240 |
Multicentric Reticulohistiocytosis |
|
Fever, Cachexia |
ORPHA:139436 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Sickle Cell Anemia |
|
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Thrombocytosis, Osteomyelitis, Microcytic ... |
ORPHA:232 |
Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Multiple lipomas, Zollinger-Ellison sy... |
ORPHA:913 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Cyanosis, Transient Neonatal |
|
Hepatomegaly, Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia |
OMIM:613977 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Pelvic mass, Reduced C-peptide level, Weight loss, ... |
ORPHA:2126 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Hepatomegaly, Abnormal dental enamel morphology, Portal hypertension, Splenomegaly, Scarring alop... |
ORPHA:59303 |
Glycogen Storage Disease Xii |
|
Normocytic anemia, Hepatomegaly, Increased circulating lactate dehydrogenase concentration, Eleva... |
OMIM:611881 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Failure to thriv... |
OMIM:617591 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Grfoma |
|
Anorexia, Neoplasm of the thymus, Zollinger-Ellison syndrome, Pheochromocytoma, Hepatomegaly, Int... |
ORPHA:97261 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypothermia, Elevated circulating acylcarnitine conc... |
ORPHA:159 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Obesit... |
ORPHA:98907 |
Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism,... |
ORPHA:231226 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Thyroid Hemiagenesis |
|
Thyroid agenesis, Macroglossia, Jaundice, Umbilical hernia |
ORPHA:95719 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... |
OMIM:266200 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Gait disturbance, Mildly elevated creatine kinase, Hand tremor |
OMIM:604484 |
3-Methylglutaconic Aciduria Type 1 |
|
Hepatomegaly, Failure to thrive, Hypoglycemia |
ORPHA:67046 |
Muscular Pseudohypertrophy-Hypothyroidism Syndrome |
|
Macroglossia, Jaundice, Umbilical hernia, Hypothyroidism |
ORPHA:2349 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Small for gestational age, Skin rash, Abnormality of the pancreas,... |
ORPHA:69665 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Decreased serum iron, Chronic hepatitis... |
OMIM:614602 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... |
ORPHA:228426 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... |
OMIM:619902 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Reduced bone mineral density, Gastroesophageal reflux, High palate, Hypocalcemia, Hyp... |
OMIM:613658 |
Diencephalic Syndrome |
|
Neoplasm of the nervous system, Cachexia, Decreased body weight |
ORPHA:1672 |
Niemann-Pick Disease, Type A |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Bone-marrow foam cel... |
OMIM:257200 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Small for gestational age, Reduced level of N-ac... |
OMIM:224120 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Cholestasis, Intrahepatic, Of Pregnancy 3 |
|
Abnormal liver function tests during pregnancy, Intrahepatic cholestasis, Jaundice, Increased ser... |
OMIM:614972 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Abnormal circulating fatt... |
ORPHA:263455 |
Encephalopathy Due To Prosaposin Deficiency |
|
Splenomegaly, Hepatomegaly |
ORPHA:139406 |
Acth Deficiency, Isolated |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Jaundice, Adrenocorticotropic hormone d... |
OMIM:201400 |
Immunodeficiency 56 |
|
Cholangitis, Recurrent pneumonia, Bronchiectasis, Cirrhosis, Chronic hepatitis due to cryptospori... |
OMIM:615207 |
Lysinuric Protein Intolerance |
|
Osteopenia, Decreased HDL cholesterol concentration, Decreased response to growth hormone stimula... |
ORPHA:470 |
Inflammatory Pseudotumor Of The Liver |
|
Fever, Elevated circulating aspartate aminotransferase concentration, Elevated circulating alpha-... |
ORPHA:90003 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Immunodeficiency 43 |
|
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... |
OMIM:241600 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Villous atrophy, Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Thrombocy... |
OMIM:304790 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Anorexia, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditi... |
ORPHA:549 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Immunodeficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Accessory spleen, Failure to thrive, Decreased circu... |
OMIM:300972 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypoglycemic seizures, Inflammation of the large intestine, Periodontitis, Hepatic st... |
ORPHA:79259 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Polydipsia, Po... |
OMIM:222100 |
Neonatal Alloimmune Neutropenia |
|
Pneumonia, Jaundice, Neutropenia in presence of anti-neutropil antibodies, Maternal diabetes |
ORPHA:464370 |
Osteootohepatoenteric Syndrome |
|
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Recurrent fracture... |
OMIM:619377 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614727 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
|
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Elevated circulating long chain fatty acid concentration, Hyperbil... |
OMIM:614886 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... |
OMIM:616689 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... |
ORPHA:3202 |
Hemoglobin H Disease |
|
Splenomegaly, Hepatomegaly |
OMIM:613978 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia,... |
OMIM:619418 |
Persistent Polyclonal B-Cell Lymphocytosis |
|
Splenomegaly, Hepatomegaly |
OMIM:606445 |
Hypereosinophilic Syndrome, Idiopathic |
|
Splenomegaly, Hepatomegaly, Myeloproliferative disorder |
OMIM:607685 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Spl... |
OMIM:613385 |
Mccune-Albright Syndrome |
|
Gastroesophageal reflux, Aneurysmal bone cyst, Benign gastrointestinal tract tumors, Hyperthyroid... |
ORPHA:562 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Nonspherocytic h... |
OMIM:235700 |
Reni Syndrome |
|
Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Ataxia |
OMIM:617575 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Thrombocytopenia, Type I diabetes mellitus, Anemia |
ORPHA:290 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Lipoyltransferase 1 Deficiency |
|
Elevated hepatic transaminase, Hyperglutaminemia, Hyperprolinemia, Decreased liver function, Incr... |
OMIM:616299 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Hepatomegaly, Hyperammonemia, Hyperornithinemia, Decreased liver function, Acute hepatitis, Failu... |
OMIM:238970 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Acne, Abnormality of the endocrine system, Abnormality of the thyroid gland, O... |
ORPHA:77296 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Obesity, High palate, Recurrent otitis ... |
ORPHA:254531 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... |
OMIM:613673 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Chronic oral candidiasis, Eosinophilia, Anorexia, Pneumonia, Recurrent pneumonia, Hepatitis, Eryt... |
ORPHA:169160 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Hepatic fibrosis, Hypothyroidism, Hypoparathyroidism, Hepatomegaly,... |
ORPHA:231214 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Fever, Hypothermia, Jaundice, Li... |
ORPHA:20 |
Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Cardiomegaly, Hepatic fibrosis, Hypoalbumine... |
ORPHA:14 |
Mitochondrial Myopathy, Infantile, Transient |
|
Increased serum pyruvate, Hepatomegaly, Elevated circulating creatine kinase concentration, Incre... |
OMIM:500009 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Cronkhite-Canada Syndrome |
|
Hepatomegaly, Cachexia, Splenomegaly, Hamartomatous polyposis, Neoplasm |
ORPHA:2930 |
Reynolds Syndrome |
|
Hepatomegaly, Telangiectasia of the skin, Skin rash, Abnormal gastric mucosa morphology, Jaundice... |
ORPHA:779 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Sandhoff Disease |
|
Splenomegaly, Hepatomegaly, Abnormal glycosphingolipid metabolism, Failure to thrive |
ORPHA:796 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Ulcerative colitis, Cholestasis, Abnorm... |
ORPHA:562639 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:348 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Hypothermia, Prolonged neonatal jaundice |
ORPHA:226313 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hyperalaninemia, Hepatic steatosis, Hyperprolinemia |
OMIM:615918 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
Infantile Liver Failure Syndrome 2 |
|
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Hyperammonemia |
OMIM:616483 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... |
ORPHA:369873 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Galloway-Mowat Syndrome 6 |
|
Hypoalbuminemia |
OMIM:618347 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Osteopenia, Multiple joint contractures,... |
ORPHA:2959 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Intention trem... |
OMIM:254900 |
Hemolytic Disease Of Fetus And Newborn, Rh-Induced |
|
Splenomegaly, Hepatomegaly, Fetal ascites |
OMIM:619462 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Anorexia, Pancreatitis, Jaundice, Elevated circulating alkaline ph... |
ORPHA:521219 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Elevated hepatic transaminase, Aggressive behavior, Cryptorchidism, Jaundice, Flexion contracture... |
OMIM:608093 |
Hereditary Spherocytosis |
|
Hepatomegaly, Reticulocytosis, Extramedullary hematopoiesis, Spontaneous hemolytic crises, Maculo... |
ORPHA:822 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Reticulocytosis, Reduced level of N-acetylglucosaminyltransferase II, Anemia of inadequate produc... |
OMIM:224100 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Recurrent fractures, Splenomegaly, Primary hyperparathyr... |
OMIM:239200 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Small for gestational age, Elevated circulating creatine kinase concentration, Hy... |
OMIM:618775 |
Primary Erythromelalgia |
|
Leukemia, Hypothermia |
ORPHA:90026 |
Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... |
OMIM:615631 |
Congenital Enterovirus Infection |
|
Fever, Fetal ascites, Hypothermia, Hepatitis, Hyperammonemia, Cholestasis, Hypoalbuminemia, Hepat... |
ORPHA:292 |
Rhabdoid Tumor |
|
Fever, Renal neoplasm, Hypercalcemia, Weight loss, Neoplasm of the central nervous system, Neopla... |
ORPHA:69077 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Left ventricular hypertrophy, Hyperalaninemia, Decreased level of coenzyme Q10 in skeletal muscle... |
OMIM:614654 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Pyloric sten... |
ORPHA:96184 |
Pseudo-Torch Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Thrombocytopenia, High palat... |
OMIM:251290 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Gastroesophageal reflux, Decreased liver f... |
ORPHA:70472 |
Immunodeficiency 42 |
|
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Recurrent aphthous stomatitis,... |
OMIM:616622 |
Mpi-Cdg |
|
Gastrointestinal hemorrhage, Hepatomegaly, Abnormal circulating enzyme concentration or activity,... |
ORPHA:79319 |
Immunodeficiency 48 |
|
Splenomegaly, Hepatomegaly, Eczematoid dermatitis, Pneumonia |
OMIM:269840 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Thyroid hypoplasia, Increased circulating thyroglobulin level, Goiter, Delayed proximal femoral e... |
ORPHA:90673 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Polyphagia, Obesity |
OMIM:618406 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Elevated hepatic transaminase, Increased serum pyruvate, Small for gestational age, Hypoglycemia,... |
OMIM:615160 |
Mu-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Fever, Weight loss |
ORPHA:100024 |
Peroxisome Biogenesis Disorder 13A (Zellweger) |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:614887 |
Glycogen Storage Disease Ixb |
|
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Hyperuricemia, Incre... |
OMIM:261750 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Diabetes mellitus, Congenital hepatic fibrosis, Increased circulat... |
ORPHA:79230 |
Majeed Syndrome |
|
Fever, Hepatomegaly, Cachexia, Splenomegaly, Weight loss, Failure to thrive |
ORPHA:77297 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Failure to thrive |
ORPHA:2089 |
Alg1-Cdg |
|
Hypoalbuminemia |
ORPHA:79327 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Esophageal neoplasm, Hepatomegaly, Ascites, Weight loss |
ORPHA:2198 |
Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypothermia |
OMIM:615026 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Diabetes mellitus, Pyloric stenosis, Jaundice, Hypothyroidism, Apl... |
ORPHA:93111 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Abnormality of temperature regulation, Weight loss |
ORPHA:42642 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... |
OMIM:613280 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Elevated circulating creatine ki... |
ORPHA:26791 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
Reynolds Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Calcinosis, Erythema no... |
OMIM:613471 |
Aredyld Syndrome |
|
Splenomegaly, Hepatomegaly, Refractory anemia with ringed sideroblasts, Cachexia |
ORPHA:1133 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Cutis marmorata, Limitation of joint mobility, Osteoporosis, Hyperhomocystinemia... |
OMIM:236200 |
Hydroxykynureninuria |
|
Jaundice |
OMIM:236800 |
Glutamate-Cysteine Ligase Deficiency |
|
Hemolytic anemia, Jaundice, Reticulocytosis, Hepatosplenomegaly |
ORPHA:33574 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Omphalocele, Impaired lymphocyte transformation with phytohemagglutinin, Intestinal obstruction, ... |
OMIM:243150 |
Cryoglobulinemic Vasculitis |
|
Gastrointestinal hemorrhage, Hepatomegaly, Viral hepatitis, Cutis marmorata, Splenomegaly, Medias... |
ORPHA:91138 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Laron Syndrome |
|
Hypoglycemia, Prematurely aged appearance, Abnormality of the endocrine system, Osteoarthritis, T... |
ORPHA:633 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Saccharopinuria |
|
Tremor, Hypercystinemia, Hyperammonemia, Gait ataxia, Abnormality of circulating enzyme level, El... |
ORPHA:3124 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypersplenism, Hepatomegaly, Splenomegaly, Hypocholesterolemia |
OMIM:610539 |
Gracile Syndrome |
|
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Sarcoma, Weight loss |
ORPHA:66661 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Nonketotic hypoglycemia, Elevated hepatic transaminase, Elevated circulati... |
ORPHA:99901 |
Werner Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Elevated circulating aspartate aminotransferase co... |
OMIM:277700 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia |
OMIM:608104 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunc... |
OMIM:269200 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Elevated circulating aspartate aminotransferase concentration, Bilateral cryptorchidism, Intrahep... |
OMIM:619685 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
ORPHA:79322 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Large fo... |
OMIM:256450 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Very long chain fatty acid acc... |
ORPHA:98908 |
Propionic Acidemia |
|
Propionyl-CoA carboxylase deficiency, Hepatomegaly, Hyperammonemia |
ORPHA:35 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... |
OMIM:235200 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Joint laxity, Diabetes mellitus, Cholestasis, Hepatosplenomegaly, ... |
ORPHA:541423 |
Fructose Intolerance, Hereditary |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Jaundice,... |
OMIM:229600 |
Leigh Syndrome |
|
Hepatocellular necrosis |
OMIM:256000 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Cryptorchidism,... |
ORPHA:3363 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Very long chain fatty acid accumulation, Elevated circulating phytanic acid concent... |
OMIM:266510 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Osteopenia, Hypergonadotropic hypog... |
OMIM:212065 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Leukopenia, Protein-losing enteropathy, Hyp... |
OMIM:619991 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate... |
OMIM:617253 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia |
ORPHA:2494 |
Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Premature graying of hair, High palate, Fasting hypoglycemia, Hypothyro... |
ORPHA:769 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Hemolytic anemia, Pericarditis, ... |
OMIM:619487 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Hypoglycemia, Insulin resistance, Osteoporosis, Truncal... |
ORPHA:73272 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase c... |
OMIM:212138 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Failure to thrive, Cachexia, Weight loss |
OMIM:612075 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Villous atrophy, Hepatic failure, Protein-losing enteropathy, Hepatic fibrosis, Cir... |
OMIM:602579 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... |
OMIM:607626 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Decreased ... |
OMIM:240300 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia |
OMIM:226300 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Cryptorchidism, Jaundice, Cleft palate, Joint cont... |
OMIM:214110 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Fat malabsorption, ... |
ORPHA:731 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Increased blood urea nitrogen, Hyperisoleucinemia, Hyperleucinemi... |
OMIM:620085 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... |
OMIM:608779 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Cachexia, Weight loss |
OMIM:613662 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Hepatomegaly, Hemolytic anemia, Splenomegaly, Jaundice, Osteolysis, Corneal scarring,... |
OMIM:263700 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Prolidase Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Eczema, Splenomegaly... |
OMIM:170100 |
Gaisböck Syndrome |
|
Plethora, Diabetes mellitus, Hypertriglyceridemia, Peptic ulcer, Overweight, Splenomegaly, Increa... |
ORPHA:90041 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Reduced bone mineral density, Abnormal intestine morphology, Failu... |
ORPHA:977 |
Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Velopharyngeal insufficien... |
OMIM:182290 |
Tuberculosis |
|
Fever, Weight loss |
ORPHA:3389 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Cardio... |
ORPHA:57777 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Aicardi-Goutieres Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes insipidus, Chilblains, Splenomegaly, Thromb... |
OMIM:225750 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Arthritis, Increased se... |
OMIM:602390 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Neonatal Severe Primary Hyperparathyroidism |
|
Splenomegaly, Hepatomegaly |
ORPHA:417 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Impaired lymphocyte transformation with phytohemagglutinin, Hypertriglyceridemia, Increased circu... |
OMIM:619313 |
Crigler-Najjar Syndrome |
|
Jaundice, Abnormality of the liver, Infectious encephalitis |
ORPHA:205 |
Combined Saposin Deficiency |
|
Splenomegaly, Hepatomegaly |
OMIM:611721 |
Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Splenom... |
OMIM:259720 |
Preeclampsia |
|
Elevated hepatic transaminase, Helicobacter pylori infection, Increased body mass index, Small fo... |
ORPHA:275555 |
Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Hepatic steatosis, Obesity |
OMIM:615996 |
Malaria |
|
Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration |
ORPHA:673 |
19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Craniosynostosis, Precocious puberty, Hypothyroidism, Hyperlipidemia, Cryptorchidi... |
ORPHA:254346 |
Pyruvate Dehydrogenase E3 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Elevated circulating branched chain am... |
ORPHA:2394 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Hepatomegaly, Failure to thrive, Hyperglutamatemia, Hypoglycemia, Hyperalaninem... |
ORPHA:3008 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Jaundice, Glycosuria, Elevated circulating glutaric acid concentratio... |
OMIM:231680 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... |
ORPHA:781 |
Portal Hypertension, Noncirrhotic, 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasi... |
OMIM:619463 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Hemolytic anemia, Chronic oral candidiasis, Absence of lymph node germinal center, ... |
OMIM:308230 |
Dihydrolipoamide Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased serum pyruvate, Hypoglycemia, Decreased li... |
OMIM:246900 |
Lichen Planopilaris |
|
Neoplasm of the oral cavity, Hepatitis |
ORPHA:525 |
Autoimmune Polyendocrinopathy Type 4 |
|
Osteopenia, Atrophic gastritis, Xerostomia, Leukopenia, Tubulointerstitial nephritis, Hashimoto t... |
ORPHA:227990 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... |
OMIM:613038 |
Relapsing Fever |
|
Elevated hepatic transaminase, Neutrophilia, Elevated circulating C-reactive protein concentratio... |
ORPHA:91547 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Hepatocellular carcinoma, Splenomegaly, Bronchiectasis, Cirrhosis,... |
OMIM:613490 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Abnormality of the liver, Mildly elevated creatine kinase, Decreased circulating ca... |
ORPHA:254864 |
Galactosemia I |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:230400 |
Cirrhosis, Familial |
|
Fulminant hepatitis, Jaundice, Esophageal varix, Biliary cirrhosis, Micronodular cirrhosis, Incre... |
OMIM:215600 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Elevated hepatic transaminase, Fever, Liver abscess, Elevated circulating C-reactive protein conc... |
ORPHA:54251 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Conjugated hyperbilirubinemia, High palate, Elevated gamma-glutamyltransferase level, Intrahepati... |
OMIM:614866 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati... |
ORPHA:88618 |
Myasthenia Gravis |
|
Hemolytic anemia, Myositis, Hyperthyroidism, Pure red cell aplasia, Primary adrenal insufficiency... |
ORPHA:589 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Abnormal circulating cholesterol con... |
ORPHA:399 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... |
ORPHA:139402 |
Central Diabetes Insipidus |
|
Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus |
ORPHA:178029 |
Autoimmune Polyendocrinopathy Type 3 |
|
Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Leukopenia, Tubulointe... |
ORPHA:227982 |
Aromatase Deficiency |
|
Eunuchoid habitus, Osteopenia, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enla... |
ORPHA:91 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Leukopenia,... |
ORPHA:2298 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... |
ORPHA:228308 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
|
Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Hepatomegaly, Decreased liver function |
OMIM:614870 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Abnormal... |
ORPHA:79124 |
Methylmalonic Aciduria And Homocystinuria, Cbld Type |
|
Methylmalonic acidemia, Hypomethioninemia, Spastic ataxia, Megaloblastic anemia, Hyperhomocystine... |
OMIM:277410 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Iron deficiency anemia, Increased erythrocyte protoporphyrin conce... |
OMIM:300752 |
Peripheral Primitive Neuroectodermal Tumor |
|
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Anorexia, Elevated circulating al... |
ORPHA:370348 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... |
ORPHA:98870 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... |
ORPHA:276608 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Splenomegaly, Lymphoma, Hypocalcemia, Ascites |
ORPHA:100025 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Intestinal perforation, Hematemesis, Thrombocytopen... |
ORPHA:464321 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... |
ORPHA:98855 |
Parathyroid Carcinoma |
|
Pancreatic adenocarcinoma, Peptic ulcer, Hypercalcemia, Testicular neoplasm, Primary hyperparathy... |
ORPHA:143 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... |
ORPHA:309854 |
Allan-Herndon-Dudley Syndrome |
|
Small for gestational age, Failure to thrive in infancy, Abnormality of thyroid physiology, Crypt... |
ORPHA:59 |
Sepsis In Premature Infants |
|
Hepatomegaly, Cyanosis, Small for gestational age, Elevated circulating C-reactive protein concen... |
ORPHA:90051 |
Bacterial Toxic-Shock Syndrome |
|
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... |
ORPHA:36234 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Elevated circulating C-reactive protein concentration, Eleva... |
OMIM:619573 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy... |
OMIM:242150 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:615486 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529808 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Decreased fumarate hydratase acti... |
OMIM:606812 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia |
ORPHA:529799 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Cryptorchidism, Dysphagia, Failure to ... |
OMIM:618958 |
Glutathione Peroxidase Deficiency |
|
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia |
OMIM:614164 |
Hemophagocytic Syndrome Associated With An Infection |
|
Elevated hepatic transaminase, Hepatomegaly, Fever, Hypertriglyceridemia, Increased circulating f... |
ORPHA:158048 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Hypoglycemia |
OMIM:201450 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Cardiomegaly, Hyperpro... |
OMIM:619064 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... |
OMIM:613470 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Hepatomegaly, Failure to thrive, Hyperammonemia |
ORPHA:28 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating creatine kinase concentration, Osteolysis, Increased susceptibility to fract... |
ORPHA:52430 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Microcytic anemia, Abnormal circulating porphyrin concentration, Erythema, Decreased live... |
ORPHA:79278 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Elevated circulating calcitonin concentration, Weight loss, Lymphade... |
ORPHA:1332 |
Zellweger Syndrome |
|
Hepatomegaly, Very long chain fatty acid accumulation, Malabsorption, Pyloric stenosis, Jaundice,... |
ORPHA:912 |
Classic Hodgkin Lymphoma |
|
Fever, Hepatomegaly, Splenomegaly, Lymphoma, Weight loss, Neoplasm |
ORPHA:391 |
Primary Intestinal Lymphangiectasia |
|
Reduced proportion of CD4+ effector memory T cells, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia... |
ORPHA:90362 |
Gallbladder Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Anorexia, Biliary tract neoplasm, Extrahepatic cholestasis... |
ORPHA:100086 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... |
OMIM:209920 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Villous atrophy, T lymphocytopenia, Infectious encephalitis, Autoimmune thrombocytope... |
ORPHA:391487 |
Splenoportal Vascular Anomalies |
|
Diabetes mellitus, Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fi... |
OMIM:271500 |
Hereditary Chronic Pancreatitis |
|
Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Elevated circulating C-... |
ORPHA:676 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Intestinal malrotation, Jejuno... |
ORPHA:436252 |
Melioidosis |
|
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... |
ORPHA:31202 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:17 |
Follicular Lymphoma |
|
Abnormal peritoneum morphology, Fever, Splenomegaly, Lymphoma, Weight loss |
ORPHA:545 |
Kaposi Sarcoma |
|
Fever, Lymphoproliferative disorder, Abnormality of the spleen, Neoplasm by anatomical site, Weig... |
ORPHA:33276 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Fever, Hepatomegaly, Failure to thrive, Hypothermia, Abnormality of Krebs cycle metabolism, Low p... |
ORPHA:255210 |
Nephroblastoma |
|
Fever, Weight loss, Neoplasm of the lung, Neoplasm of the liver, Neoplasm, Nephroblastoma |
ORPHA:654 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Pneumonia,... |
ORPHA:90790 |
Idiopathic Achalasia |
|
Decreased prealbumin level, Weight loss |
ORPHA:930 |
Immunodeficiency 82 With Systemic Inflammation |
|
Villous atrophy, Decreased proportion of naive T cells, Anorexia, Elevated circulating C-reactive... |
OMIM:619381 |
Bachmann-Bupp Syndrome |
|
Hypoglycemia, Aggressive behavior, Large for gestational age, Cryptorchidism, High palate, Attent... |
OMIM:619075 |
Amyloidosis, Familial Visceral |
|
Splenomegaly, Hepatomegaly, Skin rash, Cholestasis |
OMIM:105200 |
Hyperbiliverdinemia |
|
Cholelithiasis, Elevated circulating biliverdin concentration, Decreased liver function, Cholestasis |
OMIM:614156 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Jaundice, Leukocytosis, Unconjugated hyperbilirubine... |
OMIM:300908 |
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Jaundice, Elevated circulatin... |
OMIM:613095 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Hyperbilirubinemia |
OMIM:618660 |
Klatskin Tumor |
|
Fever, Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss |
ORPHA:99978 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Microcytic anemia, Gastroesophageal reflux, Elevated gamma-glutamyltransferase level, Hepatic ste... |
OMIM:619525 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:617950 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Flexion contracture, Esophageal... |
ORPHA:367 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Delayed thelarche, Delayed ... |
OMIM:616033 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, High, narrow palate, Cryptorchidism, Abnormal panc... |
ORPHA:2849 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Glucose intolerance, Abnormality of iron homeostasis... |
ORPHA:75563 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... |
ORPHA:98863 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Cachexia |
ORPHA:157973 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Recurrent pneumonia, Obesity, Hypogonadism, Polyphagia, Decreased testicu... |
OMIM:614962 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Pancreatic adenocarcinoma, Peptic ulcer, Hypercalcemia, Testicular neoplasm, Primary hyperparathy... |
ORPHA:99880 |
Congenital Macroglossia |
|
Neurofibroma, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Proprotein Convertase 1/3 Deficiency |
|
Villous atrophy, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hy... |
OMIM:600955 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increase... |
ORPHA:98853 |
Isolated Osteopoikilosis |
|
Increased bone mineral density, Abnormally ossified vertebrae, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Mucopolysaccharidosis Type 7 |
|
Inguinal hernia, Joint stiffness, Splenomegaly, Hepatitis, Epiphyseal stippling, Umbilical hernia... |
ORPHA:584 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Hepatomegaly, Lymphopenia, Decreased proportion of naive T cells, Chronic oral candidiasis, Recur... |
ORPHA:276 |
Laryngeal Neuroendocrine Tumor |
|
Elevated carcinoembryonic antigen level, Neuroendocrine neoplasm, Neoplasm of the larynx, Weight ... |
ORPHA:100083 |
Lathosterolosis |
|
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... |
OMIM:607330 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Cryptorchidism, Flexion contracture, Obesity, Gastroes... |
OMIM:615547 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Myelodysplasia, Hepatic necrosis, Interstitial pneumonitis, Squamous cell carcinoma of the skin, ... |
OMIM:127550 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Jaundice, Increased mean corpuscular volume, In... |
OMIM:613839 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic failure, Transient hyperlipidemia |
ORPHA:156 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Ovarian cyst, Hepatic fib... |
OMIM:246200 |
Isolated Congenital Hypoglossia/Aglossia |
|
Hamartoma, Weight loss |
ORPHA:141152 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Hyponatremia, Osteomyelitis, Failure to thrive in infancy, Glucocortocoid-insensitive primary hyp... |
ORPHA:171876 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Diabetes mellitus, Necrolytic migratory erythema, Zollinger-Ellison syn... |
ORPHA:438274 |
Genetic Transient Congenital Hypothyroidism |
|
Increased circulating thyroglobulin level, Abnormal radioactive iodine uptake test result, Thyroi... |
ORPHA:226316 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Prominent superficial veins, Decreased adipose tiss... |
OMIM:608612 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Abnormality of the liver, Hypocalcemia, Ne... |
ORPHA:699 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Rectal fistula, Elev... |
OMIM:616433 |
Bardet-Biedl Syndrome 9 |
|
Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia |
OMIM:615986 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Gastrointestinal dysmotility, Gonadotropin... |
ORPHA:293987 |
Retinitis Pigmentosa 59 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive |
OMIM:613861 |
Niemann-Pick Disease, Type C2 |
|
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Low cholesterol esterification rate, Splenom... |
OMIM:607625 |
Rh Deficiency Syndrome |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Spherocytosis, Hepa... |
ORPHA:71275 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Sinusitis, Skin rash, Abnormal CD4:CD8 ratio, Autoimmu... |
ORPHA:572 |
Castleman Disease |
|
Abnormality of the gastrointestinal tract, Myelofibrosis, Intestinal obstruction, Generalized lym... |
ORPHA:160 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating creatine kinase concentration, ... |
ORPHA:369840 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss |
ORPHA:1979 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Hypoalbuminemia |
ORPHA:656 |
Niemann-Pick Disease, Type C1 |
|
Hepatomegaly, Fatal liver failure in infancy, Fetal ascites, Bone-marrow foam cells, Low choleste... |
OMIM:257220 |
Spinocerebellar Ataxia 48 |
|
Cachexia |
OMIM:618093 |
Alexander Disease Type I |
|
Failure to thrive, Cachexia |
ORPHA:363717 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Elevated circulatin... |
OMIM:613489 |
3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas... |
OMIM:610198 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hyperbilirubinemia, Abnormal rectum morphology, Hernia, Hiatus hernia |
ORPHA:101009 |
Xfe Progeroid Syndrome |
|
Elevated hepatic transaminase, Cachexia, Ascites, Hypoalbuminemia, Failure to thrive |
OMIM:610965 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Cardiomegaly, Stiff interphalangeal joints, Hyperglycemia, Hypothyroidism, Hepatomegaly, Hypogona... |
ORPHA:465508 |
Autoimmune Lymphoproliferative Syndrome |
|
Uveitis, Colitis, Thyroid carcinoma, Lymphocytosis, Increased B cell count, Elevated proportion o... |
ORPHA:3261 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Goiter, Elevated circulating thyroid-sti... |
ORPHA:99832 |
Gaucher Disease |
|
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Osteomyelitis, Recurrent ... |
ORPHA:355 |
Zygomycosis |
|
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Ne... |
ORPHA:73263 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Hepatomegaly |
OMIM:618224 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Laryngeal carcinoma, Carcinoma |
OMIM:610644 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia |
OMIM:614741 |
Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia, Hemangiomatosis, Visceral angiomatosis, Patent ductus arteriosus, As... |
ORPHA:2123 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Diabetes mellitus, Foot joint contracture, Achilles tendon contracture, Aplasia/Hyp... |
ORPHA:456312 |
Alveolar Echinococcosis |
|
Liver abscess, Cholangitis, Portal hypertension, Eosinophilia, Pancreatic cysts, Abnormal mesente... |
ORPHA:284 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achilles tendon contracture... |
OMIM:616263 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Autoimmune thrombocytopenia, O... |
ORPHA:77293 |
Combined Malonic And Methylmalonic Acidemia |
|
Elevated hepatic transaminase, Dicarboxylic acidemia, Methylmalonic acidemia, Hypoglycemia, Failu... |
ORPHA:289504 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
Familial Atrial Myxoma |
|
Cardiomegaly, Jaundice, Cholestasis, Bacterial endocarditis, Ascites |
ORPHA:615 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Premature graying... |
ORPHA:79474 |
Mucopolysaccharidosis-Plus Syndrome |
|
Inability to walk, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Neutropenia, Anemia |
OMIM:617303 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Villous atrophy, Small for gestational age, Thrombocytosis, Increased mean platelet... |
OMIM:222470 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Joint stiffness, Precocious puberty, Hypothyr... |
ORPHA:819 |
Immunodeficiency 59 And Hypoglycemia |
|
Hepatomegaly, Hypoglycemia, Recurrent skin infections, Malabsorption, Herpes simplex encephalitis... |
OMIM:233600 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Splenomegaly, Hepatomegaly |
OMIM:603902 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Hypoglycemia, Hyperglutaminemia, Jaundice, Low plasma citrulline, Hyperammonemia, Hyperprolinemia... |
OMIM:615751 |
Idiopathic Bronchiectasis |
|
Fever, Cachexia |
ORPHA:60033 |
Cystinosis, Nephropathic |
|
Hyponatremia, Hepatomegaly, Diabetes mellitus, Failure to thrive in infancy, Oral-pharyngeal dysp... |
OMIM:219800 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... |
ORPHA:411593 |
Aicardi-Goutieres Syndrome 7 |
|
Atrophic gastritis, Generalized lymphadenopathy, Hypothyroidism, Hepatic steatosis, Hepatomegaly,... |
OMIM:615846 |
Pleural Mesothelioma |
|
Hepatomegaly, Weight loss |
ORPHA:50251 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Hypocalcem... |
OMIM:606407 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects |
|
Hepatomegaly, Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Hyperkalem... |
OMIM:608885 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia |
ORPHA:93941 |
Timothy Syndrome |
|
Patent ductus arteriosus, Hypocalcemia, Hypothermia, Cardiomegaly |
OMIM:601005 |
Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Gastroesophageal reflux, Femoral hernia, Scarring, Osteomalacia,... |
ORPHA:198 |
Hereditary Fructose Intolerance |
|
Hepatomegaly, Reduced circulating aldolase concentration, Reactive hypoglycemia, Jaundice, Hyperm... |
ORPHA:469 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Idiopathic Hypereosinophilic Syndrome |
|
Myelofibrosis, Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Angioedema, Leuko... |
ORPHA:3260 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Anorexia, Abnormality of the spleen, Lymphadenitis, Abnormality... |
ORPHA:2552 |
Familial Pseudohyperkalemia |
|
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... |
ORPHA:90044 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Very long chain fatty acid accumulation,... |
OMIM:261515 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Reduced bone mineral density, Hypotriglyceridemia, Hepatomegaly... |
ORPHA:404454 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatitis, Hyperammonemia, Hyperornithinemia, Decrea... |
ORPHA:415 |
Apparent Mineralocorticoid Excess |
|
Hypokalemia, Abnormality of circulating cortisol level, Left ventricular hypertrophy, Polydipsia,... |
ORPHA:320 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Decreased response to growth hormone stimulation test, Reduced circu... |
ORPHA:226307 |
Immunodeficiency, Common Variable, 2 |
|
Hepatomegaly, Splenomegaly, Lymphoma, Recurrent pneumonia, Bronchiectasis, Neoplasm, Conjunctivit... |
OMIM:240500 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, Sinusitis, Pneumonia, Malabsorption... |
ORPHA:83471 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Hypercholesterolemia, Pancreatitis, Obesity |
OMIM:619471 |
Aspergillosis |
|
Osteomyelitis, Sinusitis, Eosinophilia, Pneumonia, Keratitis, Hepatitis, Bronchiectasis, Neutrope... |
ORPHA:1163 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Chronic gastritis, Viral hepatitis, Liver abscess, Diabetes mellitus, Cholangitis, Psoriasiform d... |
ORPHA:183675 |
Gitelman Syndrome |
|
Maternal diabetes, Glucose intolerance, Iron deficiency anemia, Tubulointerstitial nephritis, Hyp... |
ORPHA:358 |
Ornithine Transcarbamylase Deficiency |
|
Hypoglycemia, Splenomegaly, Pyloric stenosis, Hyperammonemia, Hepatic failure |
ORPHA:664 |
Christianson Syndrome |
|
Cachexia |
ORPHA:85278 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Gastroesophageal reflux... |
OMIM:619534 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Inguinal hernia, Joint laxity, Cholangitis, Craniosy... |
OMIM:613610 |
Sotos Syndrome |
|
Joint laxity, Aggressive behavior, High, narrow palate, Cryptorchidism, Increased body weight, Na... |
OMIM:117550 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:364 |
Neuroleptic Malignant Syndrome |
|
Elevated hepatic transaminase, Hyponatremia, Fever, Elevated circulating creatine kinase concentr... |
ORPHA:94093 |
Hijazi-Reis Syndrome |
|
Abnormal repetitive mannerisms, Gastroesophageal reflux, Hyperbilirubinemia |
OMIM:301094 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Increased circulating ferritin conc... |
OMIM:604250 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Pulmonary carcinoid tumor, Abnormal intrahepatic bile duct morphology, Papi... |
ORPHA:363618 |
Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98793 |
Immunodeficiency 91 And Hyperinflammation |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Elevated circulating C-reacti... |
OMIM:619644 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Hepatomegaly, Portal vein hypoplasia, Ascites |
OMIM:619433 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Cachexia |
ORPHA:1933 |
Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia |
ORPHA:401923 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177904 |
Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Elevated hepatic transaminase, Malabsorption,... |
ORPHA:537 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypouricemia, Large... |
OMIM:616026 |
Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia |
ORPHA:1438 |
Cimdag Syndrome |
|
Hepatomegaly, Lipodystrophy, Microvesicular hepatic steatosis, Hypogonadism, Cholelithiasis |
OMIM:619273 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177901 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98754 |
Farber Lipogranulomatosis |
|
Hepatomegaly, Splenomegaly, Decreased acid ceramidase activity, Failure to thrive, Recurrent fever |
OMIM:228000 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Fever, Hepatomegaly, Failure to thrive |
OMIM:618235 |
Hereditary Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:30925 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Patent ductus arteriosus, Hypothermia |
OMIM:616501 |
Riboflavin Transporter Deficiency |
|
Cachexia |
ORPHA:97229 |
Chédiak-Higashi Syndrome |
|
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo... |
ORPHA:167 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia, Ataxia |
ORPHA:79476 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Bilateral cryptorchidism, Repetitive compulsive behavior, Microves... |
ORPHA:66634 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia |
OMIM:616801 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Acute hyperammonemia, Failure to thrive, Hypoglycemia |
OMIM:210200 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Flexion contracture, Xerostomia, Increased body weight, Gastroesophageal reflux, Comp... |
ORPHA:398069 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Hepatomegaly |
OMIM:618852 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Hepatomegaly, Erysipelas, Elevated circulating creatine kinase concentration |
OMIM:615704 |
Aicardi-Goutieres Syndrome 6 |
|
Splenomegaly, Hepatomegaly, Chilblains |
OMIM:615010 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Anterior uveitis, Skin rash, Elevated circulating C-reactive protein ... |
ORPHA:85414 |
Amoebiasis Due To Entamoeba Histolytica |
|
Leukocytosis, Hypoalbuminemia, Anemia |
ORPHA:67 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia, Elevated circulating creatinine concentration, Bronchiectasis |
OMIM:619468 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hepatomegaly, Hypoglycemia, Hyperalaninemia |
OMIM:266150 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive |
OMIM:613561 |
Familial Cold Urticaria |
|
Erythema, Urticaria, Arthritis, Conjunctivitis, Polydipsia |
ORPHA:47045 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia |
OMIM:610006 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Fever, Hepatomegaly, Splenomegaly, Acute leukemia, Weight loss, Myeloproliferative disorder |
ORPHA:3226 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Elevated hepatic transaminase, Increased inflammatory response, Skin rash, Elevated circulating c... |
ORPHA:542323 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
Ebola Hemorrhagic Fever |
|
Gastrointestinal hemorrhage, Acute pancreatitis, Maculopapular exanthema, Hepatitis, Melena, Leuk... |
ORPHA:319218 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, High, narrow palate, Hepatosplenomegaly, Attention d... |
ORPHA:3166 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Leukocytosis, Addictive alcohol use, Left ventricular hypertrophy, Hypercholeste... |
ORPHA:90065 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney |
OMIM:615285 |
B4Galt1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79332 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Dexamethasone-suppressible primary ... |
ORPHA:403 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Osteopenia, Hypertriglyceridemia, Elevated hemoglobi... |
OMIM:619127 |
Renal Glucosuria |
|
Polydipsia, Polyphagia, Glycosuria |
OMIM:233100 |
Propionic Acidemia |
|
Hepatomegaly, Pancytopenia, Hypoglycemia, Eczema, Thrombocytopenia, Osteoporosis, Hyperammonemia,... |
OMIM:606054 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Splenomegaly, Hepatomegaly |
ORPHA:2204 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Xerostomia, Premature adrenarche, Hypothalamic luteinizing hormone-releasing hormone ... |
ORPHA:398079 |
Renpenning Syndrome |
|
Cachexia |
ORPHA:3242 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ... |
ORPHA:251274 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypoglycemia, Decreased... |
OMIM:613986 |
Classic Mycosis Fungoides |
|
Hepatomegaly, Skin rash, Eczema, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Neoplasm of t... |
ORPHA:2584 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Hypothermia, Jaundice, Hyperammonemia, Hyperhomocystin... |
ORPHA:79282 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Hypercalcemia, Abnormal dental enamel morphology, Crani... |
ORPHA:251004 |
Glycogen Storage Disease Ib |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp... |
OMIM:232220 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Evans Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Jaundice, Neutropenia in presence of an... |
ORPHA:1959 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Abnormal response t... |
ORPHA:79644 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphoma, Leukemia |
OMIM:614470 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Diabetes mellitus, Malabsorption, Joint stiffness, Abnormal mesenter... |
ORPHA:3463 |
14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism |
ORPHA:261229 |
Congenital Erythropoietic Porphyria |
|
Osteopenia, Anisocytosis, Increased stool urobilinogen concentration, Scarring alopecia of scalp,... |
ORPHA:79277 |
Panhypophysitis |
|
Hyponatremia, Decreased serum testosterone concentration, Decreased circulating cortisol level, R... |
ORPHA:95513 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Steatorrhea |
ORPHA:3217 |
Hyperzincemia With Functional Zinc Depletion |
|
Increased serum zinc, Skin rash, Hepatomegaly |
OMIM:601979 |
Gaucher Disease Type 2 |
|
Splenomegaly, Hepatomegaly |
ORPHA:77260 |
Overlap Myositis |
|
Elevated hepatic transaminase, Diabetes mellitus, Elevated circulating creatine kinase concentrat... |
ORPHA:206572 |
Metachromatic Leukodystrophy |
|
Gallbladder dysfunction, Cholecystitis |
OMIM:250100 |
Glycogen Storage Disease Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperlipidemia, Delayed puberty, Osteo... |
OMIM:232200 |
Menkes Disease |
|
Decreased circulating ceruloplasmin concentration, Hypothermia |
OMIM:309400 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... |
OMIM:615688 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Self-injurious behavior, Prolonged neonatal jaundice |
OMIM:618828 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Failure to thrive, Hypertriglyceridemia, Hepatocellular carcinoma,... |
OMIM:118450 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Adrenal hypoplasia, Protruding tongue, High, narro... |
OMIM:214100 |
Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Hypercalcemia, Pituitary null cell adenoma, Neoplasm of the thymus... |
ORPHA:97289 |
Gaucher Disease, Type Iii |
|
Splenomegaly, Hepatomegaly, Decreased beta-glucocerebrosidase level, Decreased body weight |
OMIM:231000 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Hamartomatous polyposis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
East Syndrome |
|
Salt craving, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia,... |
ORPHA:199343 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Cholestasis, Hypocalcemia, Left ventricular hyp... |
ORPHA:746 |
Marburg Hemorrhagic Fever |
|
Elevated circulating creatine kinase concentration, Anorexia, Odynophagia, Uveitis, Leukopenia, H... |
ORPHA:99826 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614034 |
Neurodegeneration, Childhood-Onset, With Ataxia, Tremor, Optic Atrophy, And Cognitive Decline |
|
Prolonged neonatal jaundice, Dysphagia |
OMIM:618868 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Abnormal intestine morphology, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Aicardi-Goutieres Syndrome 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatosplenomegaly |
OMIM:610333 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Diabetes insipidus, Elevated amniotic fluid alpha-fetoprotein, Prolonged neonatal jaundice, Sever... |
ORPHA:423479 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Hypoglycemia, Microvesicular hepatic steatosis, Hepatic failure, T... |
OMIM:611126 |
Postinfectious Vasculitis |
|
Abnormal circulating protein concentration, Viral hepatitis, Inflammatory abnormality of the skin... |
ORPHA:48435 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Splenomegaly, Jaundice, Normochromic anem... |
OMIM:615512 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... |
OMIM:614576 |
Septo-Optic Dysplasia Spectrum |
|
Anterior pituitary hypoplasia, Maternal diabetes, Esophageal atresia, Cryptorchidism, Tracheoesop... |
ORPHA:3157 |
Indolent Systemic Mastocytosis |
|
Hepatomegaly, Maculopapular exanthema, Skin rash, Hematological neoplasm, Splenomegaly, Elevated ... |
ORPHA:98848 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Microvesicular hepatic steato... |
OMIM:203700 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Skin rash, Retroper... |
ORPHA:35687 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepati... |
OMIM:124000 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
Meningococcal Meningitis |
|
Fever, Hypothermia, Elevated circulating C-reactive protein concentration |
ORPHA:33475 |
Hemolytic Anemia, Congenital, X-Linked |
|
Hemolytic anemia, Jaundice |
OMIM:301015 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Anemia, Decreased serum zinc, Hypoalbuminemia, Decreased circulating carnit... |
ORPHA:89842 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Splenic infarction, Leukocy... |
OMIM:603903 |
Developmental And Epileptic Encephalopathy 75 |
|
Decreased liver function, Prolonged neonatal jaundice |
OMIM:618437 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:300842 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d... |
ORPHA:103918 |
Methylcobalamin Deficiency Type Cble |
|
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Hyperhomocystinemia, Increased mean corpuscul... |
ORPHA:2169 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Peroxisome Biogenesis Disorder 6B |
|
Delayed menarche, Elevated circulating phytanic acid concentration, Decreased liver function, Pro... |
OMIM:614871 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia |
ORPHA:1389 |
Degcags Syndrome |
|
Osteopenia, Oral-pharyngeal dysphagia, Premature graying of hair, Leukopenia, Iron deficiency ane... |
OMIM:619488 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Self-mutilation, Polyphagia, Obesity, Aggressive behavior |
OMIM:616521 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Tenorio Syndrome |
|
Osteopenia, Joint laxity, Hypoglycemia, Recurrent pneumonia, Macroglossia, Keratoconjunctivitis s... |
OMIM:616260 |
Tyrosinemia, Type I |
|
Gastrointestinal hemorrhage, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, ... |
OMIM:276700 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Hepatomegaly |
ORPHA:79292 |
Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Hepatomegaly, Fever, Weight loss |
ORPHA:33577 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Al Amyloidosis |
|
Howell-Jolly bodies, Increased circulating NT-proBNP concentration, Hypoalbuminemia, Anemia |
ORPHA:85443 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
Lymphoproliferative Syndrome 2 |
|
Hepatomegaly, Lymphoproliferative disorder, Splenomegaly, Lymphoma, Recurrent pneumonia, EBV ence... |
OMIM:615122 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive, Hyperammonemia |
OMIM:616672 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Hypothermia |
OMIM:614498 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Zollinger-El... |
ORPHA:276152 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Lymphoproliferative disorder, Elevated circulating aspartate aminotransferase conce... |
OMIM:615559 |
Infantile Refsum Disease |
|
Very long chain fatty acid accumulation, Hepatomegaly, Failure to thrive, Elevated circulating ph... |
ORPHA:772 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Hypercalcemia, Elevated circulating thyroid-stimulating hormone co... |
ORPHA:94086 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased testicular size, Hypogonadotropic hypogonadism, Hypoglycemia, Anterior pituitary hypopl... |
ORPHA:453533 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Anorexia, Hematemesis, Thrombocytopenia, Jaundice, Hepa... |
ORPHA:319251 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Elevated hepatic transaminase, Small for gestational age, Elevated circulating aspartate aminotra... |
OMIM:609015 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:608799 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hypothyroidism, Bone marrow hypocellularity, Infection associated ... |
ORPHA:445038 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Hepatomegaly, Splenomegaly, Hyperammonemia, Failure to thrive, Pancreatitis |
ORPHA:79312 |
Rh-Null, Regulator Type |
|
Hemolytic anemia, Jaundice, Stomatocytosis, Unconjugated hyperbilirubinemia |
OMIM:268150 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomegaly, Microvesicular hepat... |
OMIM:618278 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Fever, Abnormality of temperature regulation, Obesity, Hypothermia |
OMIM:618493 |
Infantile Krabbe Disease |
|
Abnormal circulating enzyme concentration or activity, Cachexia, Unexplained fevers, Temperature ... |
ORPHA:206436 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Xerostomia, Periodontitis, Pre... |
ORPHA:739 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Conjugated hyperbilirubinemia, J... |
OMIM:208500 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, In... |
ORPHA:210136 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Inguinal hernia, Osteomyelitis, Hypoglycemia, Recurrent fractures, T... |
ORPHA:565 |
Neuhauser Syndrome |
|
Osteopenia, High palate, Primary hypothyroidism, Dysphagia, Hypercholesterolemia, Bifid uvula |
OMIM:249310 |
Leber Congenital Amaurosis 1 |
|
Hepatomegaly, Hyperthreoninemia |
OMIM:204000 |
Celiac Disease, Susceptibility To, 1 |
|
Elevated hepatic transaminase, Macrocytic anemia, Stomatitis, Eczema, Celiac disease, Osteoporosi... |
OMIM:212750 |
Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin |
ORPHA:90037 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hyperammonemia, ... |
ORPHA:90062 |
Ogden Syndrome |
|
Maternal diabetes, Cardiomegaly, Microvesicular hepatic steatosis, Iron deficiency anemia, High p... |
OMIM:300855 |
Activated Pi3K-Delta Syndrome |
|
Hepatomegaly, Pneumonia, Splenomegaly, Lymphoma, Bronchiectasis, Arthritis, Recurrent otitis medi... |
ORPHA:397596 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Obesity, Hypogonadotropic hypogonadism |
ORPHA:177910 |
Crimean-Congo Hemorrhagic Fever |
|
Stiff neck, Elevated circulating creatine kinase concentration, Anorexia, Leukopenia, Conjunctivi... |
ORPHA:99827 |
Flynn-Aird Syndrome |
|
Cachexia |
ORPHA:2047 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Glioblastoma multiforme, Ben... |
ORPHA:440437 |
Peroxisome Biogenesis Disorder 3A (Zellweger) |
|
Hepatomegaly, Increased circulating very long-chain fatty acid concentration |
OMIM:614859 |
Shigellosis |
|
Anorexia, Intestinal perforation, Abnormal blood ion concentration, Uveitis, Paralytic ileus, Con... |
ORPHA:810 |
Megaloblastic Anemia, Folate-Responsive |
|
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... |
OMIM:601775 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Inappropriate laughter, Obesity |
ORPHA:411515 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia,... |
ORPHA:90363 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Pulmonary carcinoid tumor, Weight loss, Increased circulating cortisol level, Hepat... |
ORPHA:97287 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Hepatomegaly, Recurrent bacterial skin infections, Abn... |
OMIM:214500 |
Cebalid Syndrome |
|
High palate, Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
Monosomy 13Q34 |
|
Hypercalcemia, Insulin resistance, Obesity, Hematochezia, Hepatic steatosis |
ORPHA:96168 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Reticulocytosis, Intestinal perforation, Pancreatitis, Rectal prolapse, Peritonitis... |
ORPHA:90038 |
Lassa Fever |
|
Jaundice, Conjunctivitis, Dysphagia |
ORPHA:99824 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
3-Methylglutaconic Aciduria, Type Viib |
|
Thrombocytopenia, Flexion contracture, Recurrent pneumonia, Leukopenia, Neutropenia, Hepatic stea... |
OMIM:616271 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Elevated hepatic transaminase, Impaired glucose tolerance, Elevated circulating creatine kinase c... |
OMIM:610131 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, High palate, Tics, Compulsive behaviors, Otitis media, Abnormal repetitive m... |
OMIM:619475 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Reactive hypoglycemia, Fasting hyperinsulinemia, Asymptomatic hyperammonemia, Attention deficit h... |
ORPHA:35878 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Schnitzler Syndrome |
|
Hepatomegaly, Skin rash, Splenomegaly, Lymphoma, Arthritis |
ORPHA:37748 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Abnormal dental enamel morphology, Erythema, Cheilitis, Hepatitis |
ORPHA:1334 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hepatomegaly, Failure to thrive, Recurrent fever, Elevated circulating C-reactive protein concent... |
OMIM:619423 |
Immunodeficiency, Common Variable, 1 |
|
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recur... |
OMIM:607594 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Hyperaldosteronism, Dexamethasone-s... |
ORPHA:369929 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Elevated hepatic transaminase, Osteopenia, Diabetes mellitus, Cryptorchidism, Jaundice, Obesity, ... |
OMIM:614231 |
Johanson-Blizzard Syndrome |
|
Conjugated hyperbilirubinemia, Anteriorly placed anus, Hepatic fibrosis, Hypocalcemia, Elevated g... |
OMIM:243800 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Hypothyroidism, Joint hyperflexibility, High palate, Hypercholesterolemia, Abnormal r... |
ORPHA:2479 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia |
OMIM:615508 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Methylmalonic acidemia, Hepatomegaly, Hypoglycemia, Hyperammonemia, Leukopenia, Tubulointerstitia... |
OMIM:251000 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Rectal prolapse, Insulin res... |
ORPHA:508 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Increased circulating lactate dehydrogenase concentration, Hypercholesterolemi... |
OMIM:309000 |
Pancreatic Colipase Deficiency |
|
Megaloblastic anemia, Steatorrhea, Cholelithiasis, Fat malabsorption, Exocrine pancreatic insuffi... |
ORPHA:309108 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Letterer-Siwe Disease |
|
Seborrheic dermatitis, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocyto... |
OMIM:246400 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Severe failure to thrive, Cachexia |
ORPHA:371364 |
Tangier Disease |
|
Left ventricular hypertrophy, Hypertriglyceridemia, Hypocholesterolemia, Hepatosplenomegaly |
ORPHA:31150 |
6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
Nephronophthisis 11 |
|
Polydipsia, Hepatic fibrosis, Anemia |
OMIM:613550 |
Focal Myositis |
|
Fever, Elevated circulating creatine kinase concentration, Weight loss |
ORPHA:48918 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Failure to thrive |
OMIM:222765 |
Alg12-Cdg |
|
Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopenia |
ORPHA:79324 |
Aicardi-Goutières Syndrome |
|
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Lipoatrophy, Diabetes melli... |
ORPHA:51 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hypokalemia, Hyperaldosteronism, Polydipsia, Decreased circulating renin level |
OMIM:613677 |
Distal Xq28 Microduplication Syndrome |
|
Impulsivity, Aggressive behavior, Self-biting, Stereotypical body rocking, High palate, Attention... |
ORPHA:293939 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Decreased liver function, Glycosuria, Diffuse hepatic steatosis, Failure to thrive,... |
ORPHA:436271 |
Osteopetrosis, Autosomal Recessive 8 |
|
Splenomegaly, Hepatomegaly, Failure to thrive |
OMIM:615085 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Hepatomegaly, Acute hyperammonemia, Myelodysplasia, Hyperglutaminemia, Hyperammonemia, Hyperalani... |
ORPHA:927 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Cholelithiasis, Aggressive behavior, Precocious puberty, Limited elbo... |
OMIM:301066 |
Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
Polymyositis |
|
Fever, Hepatomegaly, Elevated circulating creatine kinase concentration, Breast carcinoma, Weight... |
ORPHA:732 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Bone Dysplasia, Lethal Holmgren Type |
|
Hepatomegaly, Patent ductus arteriosus, Failure to thrive, Weight loss |
ORPHA:1842 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cachexia |
OMIM:618186 |
Joubert Syndrome 8 |
|
Hepatomegaly, Obesity, Prolonged neonatal jaundice |
OMIM:612291 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Jaundice, Schistocytosis, Elevated circulating creatinine concentration, Prolong... |
OMIM:274150 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Jaundice, Autoimmune hemolytic anemia, Chronic lymphatic leukemia |
ORPHA:90033 |
Senior-Loken Syndrome 4 |
|
Polydipsia, Anemia |
OMIM:606996 |
Aggressive Systemic Mastocytosis |
|
Portal hypertension, Hematological neoplasm, Hypersplenism, Hepatosplenomegaly, Weight loss, Elev... |
ORPHA:98850 |
Trichohepatoneurodevelopmental Syndrome |
|
Joint laxity, Hepatomegaly, Recurrent otitis media, Splenomegaly, Macroglossia, Elevated circulat... |
OMIM:618268 |
Prader-Willi Syndrome |
|
Osteopenia, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Decreased response to gr... |
OMIM:176270 |
H Syndrome |
|
Hypertriglyceridemia, Recurrent fever, Enlarged kidney, Hepatosplenomegaly |
ORPHA:168569 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Hyperactivity, Aggressive behavior, Cryptorchidism, Flexion contracture, Furrowed t... |
OMIM:300534 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Esophageal spasms, Decreased serum iron, Abnorma... |
ORPHA:447 |
Overhydrated Hereditary Stomatocytosis |
|
Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Anisocyto... |
ORPHA:3203 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Cryptorchidism, Self-injurious behavior, Polyphagi... |
ORPHA:228402 |
Estrogen Resistance Syndrome |
|
Osteopenia, Acne, Enlarged polycystic ovaries, Elevated tissue non-specific alkaline phosphatase,... |
ORPHA:785 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Inability to walk, Thrombocytopenia, Hepatosplenomegaly, Leukopenia, Hypoalbuminemia, Anemia |
ORPHA:505248 |
Spastic Paraplegia 29, Autosomal Dominant |
|
Hyperactivity, Neonatal hyperbilirubinemia, Hiatus hernia |
OMIM:609727 |
Nephronophthisis 3 |
|
Polydipsia, Hepatic fibrosis |
OMIM:604387 |
Severe Combined Immunodeficiency, X-Linked |
|
Hepatomegaly, Skin rash, Pneumonia, Recurrent pneumonia, Chronic oral candidiasis |
OMIM:300400 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Inguinal hernia, Absent in utero ossification of vertebral bodies... |
OMIM:608022 |
Microcephaly, Amish Type |
|
Hepatomegaly, Failure to thrive |
OMIM:607196 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia |
ORPHA:2774 |
X-Linked Creatine Transporter Deficiency |
|
Abnormal circulating creatine concentration, Cachexia |
ORPHA:52503 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia, Ataxia, Dystonia |
OMIM:251300 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Elevated circulating C-reactive protein concentration, C... |
OMIM:256040 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocortical carcin... |
ORPHA:1501 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to... |
ORPHA:79444 |
X-Linked Acrogigantism |
|
Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,... |
ORPHA:300373 |
Myotonic Dystrophy 1 |
|
Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy |
OMIM:160900 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Hepatomegaly, Elevated hepatic transaminase, Acute myeloid leukemia, Small f... |
OMIM:260400 |
Congenital Tufting Enteropathy |
|
Weight loss, Cholestatic liver disease, Failure to thrive, Steatorrhea |
ORPHA:92050 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Hypokalemia, Polydips... |
ORPHA:231580 |
Arima Syndrome |
|
Hepatomegaly, Esophageal varix, Hepatic fibrosis, Cirrhosis, Polydipsia, Hepatic steatosis, Anemia |
OMIM:243910 |
Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Osteopeni... |
OMIM:619489 |
Simple Cryoglobulinemia |
|
Abnormality of the gastrointestinal tract, Viral hepatitis, Gastrointestinal hemorrhage, Membrano... |
ORPHA:91139 |
Immunodeficiency 54 |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Lymphoproliferative disorder |
OMIM:609981 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Hepatomegaly, Autoimmune hemolytic anemia, Myositis, Splenomegaly, Flexion contracture, Erythema,... |
OMIM:619183 |
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Failure to thrive, Hypoketotic hypoglycemia |
ORPHA:5 |
Spondyloenchondrodysplasia |
|
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Decreased response to growth hormone stimul... |
ORPHA:1855 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Anorexia, Jaundice, Hepatitis, Uveitis, Lymphadenopathy, H... |
ORPHA:509 |
Gitelman Syndrome |
|
Salt craving, Hypokalemia, Increased circulating renin level, Hypomagnesemia, Polydipsia, Failure... |
OMIM:263800 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Cachexia, Visceral angiomatosis, Lymphoma, Hamartomatous polyposi... |
ORPHA:109 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Immunodeficiency 31C |
|
Osteopenia, Villous atrophy, Protein-losing enteropathy, Recurrent vulvovaginal candidiasis, Hypo... |
OMIM:614162 |
Transaldolase Deficiency |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Patent ductus arteriosus, Micronodular cir... |
OMIM:606003 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Hypoammonemia, Gastroesophageal reflux, Periodontitis, Compulsive behaviors,... |
ORPHA:534 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral density, Glu... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral density, Glu... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral density, Glu... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, High, narrow palate, Gastrointestinal inflammation, Reduced bone mineral density, Glu... |
ORPHA:881 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Hepatic steatosis, Decreased liver function |
OMIM:614922 |
Steinert Myotonic Dystrophy |
|
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn... |
ORPHA:273 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615895 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to... |
ORPHA:79443 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Enlarged kidney |
OMIM:613496 |
Bloom Syndrome |
|
Small for gestational age, Elevated hemoglobin A1c, Cryptorchidism, Bronchiectasis, Malar rash, F... |
OMIM:210900 |
Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Spontaneous hemolytic crises, Conjugated hyperbilirubinemia, Jaundice, Hepatosplenomegaly, Stomat... |
ORPHA:168577 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus, Ab... |
ORPHA:791 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Failure to thr... |
OMIM:617388 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Cryptorchidism, Hyperinsulinemia, Obesity, Polycystic ovaries, Ty... |
ORPHA:3085 |
Neuroendocrine Tumor Of The Colon |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Wei... |
ORPHA:100080 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Splenomegaly, Thyroiditis, Hodgkin lymphoma |
OMIM:619375 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, High palate, Decreased liver function, Increased intramyocellular lipid droplets, G... |
OMIM:220110 |
Bartter Syndrome, Type 2, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Hypoch... |
OMIM:241200 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Fever, Weight loss, Hepatosplenomegaly |
ORPHA:86884 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Acute myeloid leukemia, Hepatomegaly, Fever, Myelodysplasia, Hematological neoplasm, Splenomegaly... |
ORPHA:98849 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 22 |
|
Elevated hepatic transaminase, Elevated circulating dodecanoylcarnitine concentration, Increased ... |
OMIM:619355 |
Thyroid Hypoplasia |
|
Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Lymphoproliferative disorder, B-cell lymphoma, Elevated circulating C-reactive prot... |
OMIM:613011 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Hepatomegaly, Recurrent otitis media, Lymphocytic interstitial pneumonia |
OMIM:618495 |
Huntington Disease-Like 2 |
|
Weight loss |
ORPHA:98934 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure |
OMIM:615630 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Osteomyelitis, Elevated cir... |
OMIM:612852 |
Osteosarcoma |
|
Fever, Abnormal lactate dehydrogenase level, Weight loss, Elevated circulating alkaline phosphata... |
ORPHA:668 |
Hurler-Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Rhinitis |
ORPHA:93476 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia, Obesity |
ORPHA:289522 |
North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Diamond-Blackfan Anemia 8 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612563 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Normocytic anemia, Transient neutropenia, Aplastic anemia, Decreased response to grow... |
ORPHA:811 |
Combined Oxidative Phosphorylation Deficiency 40 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618835 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Cachexia |
ORPHA:702 |
Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis |
OMIM:611804 |
Combined Oxidative Phosphorylation Deficiency 42 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618839 |
Smith-Lemli-Opitz Syndrome |
|
Gastrointestinal dysmotility, Gastroesophageal reflux, Hypoalbuminemia, Hypocholesterolemia, Hepa... |
OMIM:270400 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:615356 |
Pancreatoblastoma |
|
Elevated maternal serum alpha-fetoprotein, Jaundice, Abnormal lymph node morphology, Weight loss,... |
ORPHA:677 |
Cerebrotendinous Xanthomatosis |
|
Osteoporosis, Xanthelasma, Pseudobulbar paralysis, Abnormal circulating cholesterol concentration... |
OMIM:213700 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Hepatomegaly, Failure to thrive |
ORPHA:50812 |
Malignant Peritoneal Mesothelioma |
|
Neoplasm, Peritonitis, Ascites, Weight loss |
ORPHA:168811 |
Estrogen Resistance |
|
Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Elevated alkalin... |
OMIM:615363 |
Man1B1-Cdg |
|
Truncal obesity, Polyphagia, Joint hypermobility |
ORPHA:397941 |
Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Chronic pancreatitis |
OMIM:307030 |
Infantile Nephropathic Cystinosis |
|
Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, Hypophosphatemia, H... |
ORPHA:411629 |
Luscan-Lumish Syndrome |
|
Aggressive behavior, Advanced ossification of carpal bones, Obesity, Polycystic ovaries, Recurren... |
OMIM:616831 |
Multiple Endocrine Neoplasia, Type I |
|
Hypoglycemia, Pancreatic islet cell adenoma, Peptic ulcer, Hypercalcemia, Elevated circulating gr... |
OMIM:131100 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias |
OMIM:620044 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Aggressive behavior, Herpes simplex encephalitis, Optic neuritis, Myelitis |
ORPHA:83597 |
Beta-Ketothiolase Deficiency |
|
Hepatomegaly, Hypoglycemia, Thrombocytosis, Anorexia, Leukocytosis, Hyperammonemia, Weight loss, ... |
ORPHA:134 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Failure to thrive, Diabetes insipidus, Hypernatremia |
OMIM:304800 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Nephrogenic diabetes insipidus, Polydipsia, Failure to thrive, Hypernatremia |
OMIM:125800 |
Osteopetrosis, Autosomal Dominant 3 |
|
Splenomegaly, Hepatomegaly |
OMIM:618107 |
Citrullinemia, Classic |
|
Hepatomegaly, Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Cirrhosis, Elevat... |
OMIM:215700 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hepatomegaly, Pancreatitis, Hyperammonemia |
ORPHA:289916 |
Yellow Fever |
|
Acute pancreatitis, Neutrophilia, Skin rash, Elevated circulating aspartate aminotransferase conc... |
ORPHA:99829 |
Methanol Poisoning |
|
Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus |
ORPHA:31825 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Splenomegaly, Hepatomegaly, Interstitial pneumonitis |
OMIM:620296 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Jaundice, Leukocytosis, Cervical lymphadenopathy, Hepatitis... |
ORPHA:2331 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated alkaline phosphatase of bone origin, Elevated circulating cr... |
ORPHA:411634 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Hypoalbuminemia, Anemia |
ORPHA:79076 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Anemia |
ORPHA:79396 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Salt craving, Hypokalemia, Hyperaldosteronism, Increased circulating renin level, Hypomagnesemia,... |
OMIM:612780 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenomegaly,... |
OMIM:301078 |
Glutaric Acidemia I |
|
Hepatomegaly, Hypoglycemia, Reduced peroxisomal glutaryl-CoA oxidase activity, Elevated circulati... |
OMIM:231670 |
Neuroendocrine Tumor Of Stomach |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Hem... |
ORPHA:100075 |
Niemann-Pick Disease Type C |
|
Hepatomegaly, Fetal ascites, Aggressive behavior, Low cholesterol esterification rate, Splenomega... |
ORPHA:646 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hypoalbuminemia |
OMIM:235510 |
Listeriosis |
|
Pericarditis, Liver abscess, Stiff neck, Osteomyelitis, Pneumonia, Pustule, Myocarditis, Jaundice... |
ORPHA:533 |
Periodic Fever, Familial, Autosomal Dominant |
|
Hepatomegaly, Myositis, Maculopapular exanthema, Skin rash, Oligoarthritis, Hepatic amyloidosis, ... |
OMIM:142680 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cachexia |
ORPHA:220295 |
Neonatal Lupus Erythematosus |
|
Elevated hepatic transaminase, Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Ch... |
ORPHA:398124 |
Sarcoidosis |
|
Fever, Hepatomegaly, Hypercalcemia, Portal hypertension, Hypothermia, Abnormal liver parenchyma m... |
ORPHA:797 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Erythema, Limitation of ... |
ORPHA:728 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hyperextensibility of the finger joints, Thrombocytopenia, Cryptorchidism, Cl... |
ORPHA:163979 |
19Q13.11 Microdeletion Syndrome |
|
Failure to thrive, Cachexia |
ORPHA:217346 |
Thyroid Ectopia |
|
Abnormality of the thyroid gland, Jaundice, Macroglossia, Ectopic thyroid, Umbilical hernia, Hypo... |
ORPHA:95712 |
Neuroendocrine Tumor Of The Rectum |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Wei... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic noninfectious lymphadenopathy, Anorexia, Wei... |
ORPHA:100082 |
Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Pericarditis |
ORPHA:163596 |
Trisomy 18P |
|
Bilateral cryptorchidism, High, narrow palate, Pyloric stenosis, Attention deficit hyperactivity ... |
ORPHA:1715 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Glioblastoma multiforme, Pancreatic adenocarcinoma, Benign neoplasm of ... |
ORPHA:144 |
Angelman Syndrome |
|
Abnormality of the gastrointestinal tract, Hyperactivity, Precocious puberty in females, Protrudi... |
ORPHA:72 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Small for gestational age, Neonatal insulin-dependent diabetes mellitus, Redu... |
ORPHA:556955 |
Pseudomyxoma Peritonei |
|
Abnormal peritoneum morphology, Ascites, Weight loss |
ORPHA:26790 |
1P36 Deletion Syndrome |
|
Hepatic steatosis, Camptodactyly of finger, Joint stiffness, Pyloric stenosis, Abnormality of the... |
ORPHA:1606 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:300946 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hypothyroidism, Reti... |
ORPHA:300298 |
3-Methylglutaconic Aciduria, Type Viii |
|
Jaundice, Dysphagia, Neutropenia, Failure to thrive, Neonatal hypoglycemia |
OMIM:617248 |
Polycythemia Vera |
|
Hepatomegaly, Portal hypertension, Myelodysplasia, Portal vein thrombosis, Splenomegaly, Weight l... |
ORPHA:729 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Peritoneal Cystic Mesothelioma |
|
Peritonitis, Neoplasm, Weight loss |
ORPHA:168816 |
Digeorge Syndrome |
|
High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, High palate, Gastroesoph... |
OMIM:188400 |
Sea-Blue Histiocytosis |
|
Splenomegaly, Hepatomegaly, Blepharitis |
ORPHA:158029 |
Nephrogenic Diabetes Insipidus |
|
Anorexia, Nephrogenic diabetes insipidus, Hypernatremia, Polydipsia, Failure to thrive |
ORPHA:223 |
Immunodeficiency 102 |
|
Hepatomegaly, Recurrent skin infections, Nodular regenerative hyperplasia of liver, Bronchiectasi... |
OMIM:301082 |
Familial Adenomatous Polyposis 1 |
|
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... |
OMIM:175100 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... |
ORPHA:2929 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ... |
OMIM:300755 |
Addison Disease |
|
Normocytic anemia, Decreased circulating cortisol level, Adrenal calcification, Anorexia, Adrenal... |
ORPHA:85138 |
Cog8-Cdg |
|
Elevated hepatic transaminase, Hypoglycemia, Spontaneous hematomas, Protein-losing enteropathy, F... |
ORPHA:95428 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypocholesterolemia |
OMIM:618810 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Congenital Pulmonary Lymphangiectasia |
|
Splenomegaly, Hepatomegaly, Ascites |
ORPHA:2414 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Hypogonadism, Obesity |
OMIM:615994 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly |
ORPHA:1759 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Hepatomegaly, Recurrent skin infections, Hepatosplenomegaly |
OMIM:612840 |
Sézary Syndrome |
|
Hepatomegaly, Cutaneous T-cell lymphoma, Splenomegaly, Lymphoma, Neoplasm of the skin, Erythroderma |
ORPHA:3162 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
Immunodeficiency 7 |
|
Splenomegaly, Hepatomegaly, Recurrent otitis media, Chronic oral candidiasis |
OMIM:615387 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hyperglutaminemia, H... |
OMIM:207900 |
Proximal Renal Tubular Acidosis |
|
Malabsorption, Enamel hypomineralization, Bicarbonaturia, Reduced bone mineral density, Hypokalem... |
ORPHA:47159 |
Idiopathic Pulmonary Hemosiderosis |
|
Fever, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Failure to thrive |
ORPHA:99931 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Patent ductus arteriosus, Low alkaline phosphatase, Obesity |
ORPHA:369837 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Abnormality of the liver, Myeloproliferative disorder, E... |
ORPHA:79456 |
Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
Tbck-Related Intellectual Disability Syndrome |
|
Abnormal circulating lipid concentration, Hypothermia |
ORPHA:488632 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Acute hepatic failure, Elevated hepatic transaminase, Hypoglycemia, Hyperammonemia, Hyperglycemia... |
OMIM:615453 |
Wild Type Attr Amyloidosis |
|
Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Weight loss |
ORPHA:330001 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... |
OMIM:235400 |
Metachromatic Leukodystrophy |
|
Abnormal circulating enzyme concentration or activity, Abnormal stomach morphology, Neoplasm of t... |
ORPHA:512 |
African Trypanosomiasis |
|
Hepatomegaly, Pericarditis, Aggressive behavior, Abnormality of the endocrine system, Splenomegal... |
ORPHA:3385 |
Dopamine Beta-Hydroxylase Deficiency |
|
Elevated circulating creatinine concentration, Hypothermia, Increased blood urea nitrogen |
ORPHA:230 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Restlessness, Decreased testicular size, Aggressive behavior, Cryptorchidism, General... |
ORPHA:251028 |
Mirage Syndrome |
|
Hyponatremia, Hypoglycemia, Hypergonadotropic hypogonadism, Adrenal hypoplasia, Radial club hand,... |
OMIM:617053 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Collectionism, Hyperactivity, Cutis marmorata, Congenital diaphragmatic hernia, ... |
ORPHA:96121 |
Methylmalonic Aciduria, Cblb Type |
|
Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Decreased methylmalonyl-Co... |
OMIM:251110 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Hepatomegaly, Hyperammonemia |
OMIM:610678 |
Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex... |
OMIM:601346 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Lymph... |
ORPHA:436159 |
Reticular Dysgenesis |
|
Fever, Failure to thrive, Weight loss |
ORPHA:33355 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233710 |
Camurati-Engelmann Disease |
|
Hepatomegaly, Cachexia, Splenomegaly, Slender build, Elevated circulating aldolase concentration |
ORPHA:1328 |
Bone Marrow Failure Syndrome 6 |
|
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia |
OMIM:618849 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Cachexia |
ORPHA:300605 |
Oligomeganephronia |
|
Polydipsia, Elevated circulating creatinine concentration, Small for gestational age, Congenital ... |
ORPHA:2260 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
Primary Sjögren Syndrome |
|
Normocytic anemia, Myositis, Chronic active hepatitis, Xerostomia, Leukopenia, Tubulointerstitial... |
ORPHA:289390 |
Neuroblastoma, Susceptibility To, 1 |
|
Fever, Abdominal mass, Ganglioneuroblastoma, Weight loss, Neuroblastoma, Failure to thrive, Gangl... |
OMIM:256700 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... |
OMIM:218700 |
Argininemia |
|
Hepatomegaly, Micronodular cirrhosis, Cholestasis, Hyperammonemia, Portal fibrosis, Hyperargininemia |
OMIM:207800 |
Diamond-Blackfan Anemia 3 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia |
OMIM:610629 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
ORPHA:85450 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Intestinal malrotation, Cleft soft palate, Leukocytosis, Flexion contracture, Abdominal obesity, ... |
OMIM:619321 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Hepatomegaly, Pancreatitis, Hyperammonemia |
ORPHA:27 |
Schwartz-Jampel Syndrome |
|
Elevated circulating creatine kinase concentration, Cachexia, Malignant hyperthermia, Odontogenic... |
ORPHA:800 |
Omenn Syndrome |
|
Fever, Hepatomegaly, Splenomegaly, Lymphoma, Failure to thrive |
ORPHA:39041 |
Erythrokeratodermia Variabilis |
|
Neoplasm of the skin, Weight loss |
ORPHA:317 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Splenomegaly, Bronchiectasis, ... |
OMIM:616100 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... |
OMIM:603041 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Splenomegaly, Low alkaline phosphatase, Decreased serum zinc, Failure to thrive |
OMIM:201100 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Diabetes mellitus, Inflammat... |
ORPHA:565612 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:233690 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormal circulating enzyme concentration or activity, Prematurely aged appearance, A... |
ORPHA:909 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Ethylene Glycol Poisoning |
|
Hypothermia, Hyperkalemia, Hypocalcemia, Renal tubular epithelial necrosis |
ORPHA:31826 |
Alexander Disease |
|
Failure to thrive, Hypothermia |
ORPHA:58 |
Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Splenomegaly, Elevated circulating alkaline phosphatase concentration, Hypocalcemia... |
OMIM:259700 |
Anemia, Congenital Dyserythropoietic, Type Iiia |
|
Macrocytic anemia, Anemia of inadequate production, Congenital hypoplastic anemia, Jaundice, Incr... |
OMIM:105600 |
Familial Adenomatous Polyposis |
|
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... |
ORPHA:733 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis |
ORPHA:713 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Chronic pancreatitis, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hepatocellular ca... |
OMIM:232240 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Fever, Hepatomegaly, Hyperuricemia, Hyperammonemia |
OMIM:246450 |
Rett Syndrome |
|
Cachexia |
OMIM:312750 |
Isaacs Syndrome |
|
Weight loss |
ORPHA:84142 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Osteomalacia, Rickets, Reduced bone mineral density, Increased susceptibility t... |
ORPHA:18 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Increased circulating lactate dehydrogenase concentration, Stiff n... |
ORPHA:319213 |
Acquired Hypertrichosis Lanuginosa |
|
Ovarian neoplasm, Weight loss, Neoplasm, Neoplasm of the breast, Neoplasm of the respiratory system |
ORPHA:2221 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Recurrent fractures, An... |
ORPHA:394 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly |
ORPHA:56425 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Methylmalonic acidemia, Hepatomegaly, Decreased methionine synthase activity, Small for gestation... |
OMIM:277380 |
Distal Duplication 5Q |
|
Eczema, Craniosynostosis, Cryptorchidism, Aplasia/Hypoplasia of the gallbladder, Hernia |
ORPHA:96097 |
X-Linked Intellectual Disability, Cabezas Type |
|
Obesity, Cachexia |
ORPHA:85293 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Increased circulating NT-proBNP concentration, Hypoglycemia, Elevated circulating creatine kinase... |
OMIM:620300 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Elevated circulating creatin... |
ORPHA:308552 |
Acute Monoblastic/Monocytic Leukemia |
|
Fever, Increased circulating lactate dehydrogenase concentration, Acute monocytic leukemia, Weigh... |
ORPHA:514 |
Liposarcoma |
|
Sarcoma, Weight loss |
ORPHA:69078 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... |
OMIM:617713 |
Nijmegen Breakage Syndrome |
|
Glioma, B-cell lymphoma, Cachexia, Rhabdomyosarcoma, Lymphoma, T-cell lymphoma, Acute leukemia, N... |
ORPHA:647 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Precocious puberty, Cryptorchid... |
OMIM:614736 |
Fryns-Smeets-Thiry Syndrome |
|
Cachexia |
ORPHA:2058 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Neuroendocrine Neoplasm Of Appendix |
|
Elevated hepatic transaminase, Hepatomegaly, Mechanical ileus, Functional intestinal obstruction,... |
ORPHA:100079 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip contracture, Shoulder flexion contracture, Cryptorchidism, Delayed epiphyseal ossification, F... |
OMIM:210710 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Abnormal abdomen ... |
OMIM:216360 |
Dengue Fever |
|
Skin rash, Hepatomegaly, Ascites, Hypoproteinemia |
ORPHA:99828 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Hepatomegaly, Large for gestational age, Seborrheic dermatitis, Microvesicular h... |
OMIM:300868 |
Shwachman-Diamond Syndrome 2 |
|
Hepatomegaly, Steatorrhea, Hyperechogenic pancreas, Failure to thrive, Exocrine pancreatic insuff... |
OMIM:617941 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Hepatomegaly, Increased circulating very long-chain fatty acid concentration |
OMIM:614862 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Anorexia, Elevated circulating C-reactive protein concentration, Leu... |
ORPHA:50918 |
Idiopathic/Heritable Pulmonary Arterial Hypertension |
|
Hepatomegaly |
ORPHA:422 |
Orthostatic Hypotension 1 |
|
Hypomagnesemia, Intermittent hypothermia, Increased blood urea nitrogen |
OMIM:223360 |
Lymphoid Interstitial Pneumonia |
|
Fever, Hepatomegaly, Weight loss, Failure to thrive, Enlarged kidney |
ORPHA:79128 |
Tropical Endomyocardial Fibrosis |
|
Fever, Hepatomegaly, Cachexia, Cardiomegaly, Splenomegaly, Hypoalbuminemia, Ascites |
ORPHA:75565 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Hepatic steatosis, Loss of fac... |
ORPHA:3455 |
Teratoma, Pineal |
|
Abnormal abdomen morphology, Polydipsia |
OMIM:273120 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Conjunctival telangiectasia, Telangiectasia of... |
ORPHA:774 |
8P Inverted Duplication/Deletion Syndrome |
|
Impulsivity, Precocious puberty, High, narrow palate, Cryptorchidism, Contractures of the large j... |
ORPHA:96092 |
Immunodeficiency 92 |
|
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Sclerosing cholangitis, Esophagitis |
OMIM:619652 |
Acute Lung Injury |
|
Acute pancreatitis, Pneumonia, Elevated circulating C-reactive protein concentration, Increased c... |
ORPHA:178320 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Macroglossia, Self-injurious behavior, Gastroesophageal reflux, Inappropriat... |
OMIM:156200 |
Ochoa Syndrome |
|
Cryptorchidism, Polydipsia |
ORPHA:2704 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Cholelit... |
ORPHA:2072 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, F... |
OMIM:619503 |
Elliptocytosis 3 |
|
Pyropoikilocytosis, Intermittent jaundice, Decreased mean corpuscular volume, Elliptocytosis, Chr... |
OMIM:617948 |
Polyarteritis Nodosa |
|
Fever, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:767 |
Felty Syndrome |
|
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Splenomegaly, Lymphoma, Recurrent pneumonia,... |
ORPHA:47612 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Gastroesophageal reflux, High palate, Joint contracture of the 5th finger, Attention deficit hype... |
OMIM:619934 |
Acquired Central Diabetes Insipidus |
|
Polydipsia, Diabetes insipidus, Weight loss |
ORPHA:95626 |
Sarcoidosis, Susceptibility To, 2 |
|
Hepatomegaly, Erythema nodosum, Splenomegaly, Bronchiectasis, Uveitis |
OMIM:612387 |
Osteopetrosis, Autosomal Recessive 4 |
|
Splenomegaly, Hepatomegaly |
OMIM:611490 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Inguinal hernia, Small for gestational age, Craniosynostosis, Cryptorchidism, Cleft p... |
ORPHA:363611 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Fever, Hepatosplenomegaly, Failure to thrive |
ORPHA:331206 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Joint stiffness, Flexion co... |
OMIM:609069 |
Mixed-Type Autoimmune Hemolytic Anemia |
|
Autoimmune hemolytic anemia, Skin rash, Increased total bilirubin |
ORPHA:90036 |
Cockayne Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Splenomegaly, Hyperuricemia |
ORPHA:191 |
Diamond-Blackfan Anemia 6 |
|
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume |
OMIM:612561 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Inguinal hernia, Diabetes mellitus, Intestinal malrotation, Congenital diaphr... |
OMIM:600001 |
Tay-Sachs Disease |
|
Exaggerated startle response, Increased serum beta-hexosaminidase, Tremor, Inability to walk, Dys... |
ORPHA:845 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:300942 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Cryptorchidism, Hyper... |
OMIM:619326 |
Adnp Syndrome |
|
Joint laxity, Inguinal hernia, Oral-pharyngeal dysphagia, Aggressive behavior, Cryptorchidism, Tr... |
ORPHA:404448 |
Pmm2-Cdg |
|
Osteopenia, Multiple joint contractures, Elevated circulating thyroid-stimulating hormone concent... |
ORPHA:79318 |
Tetrasomy 9P |
|
Absent gallbladder, Hyperactivity, Median cleft lip and palate, Myositis, Abnormal dental enamel ... |
ORPHA:3310 |
Gamma-Heavy Chain Disease |
|
Hepatomegaly, Skin rash, Splenomegaly, Rheumatoid arthritis, Neoplasm of the tongue |
ORPHA:100026 |
Biotinidase Deficiency |
|
Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Hyperamm... |
OMIM:253260 |
Common Variable Immunodeficiency |
|
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm... |
ORPHA:1572 |
Cystic Fibrosis |
|
Elevated hepatic transaminase, Osteopenia, Sinusitis, Meconium ileus, Malabsorption, Rectal prola... |
ORPHA:586 |
Peroxisome Biogenesis Disorder 1B |
|
Hyperoxaluria, Hepatic fibrosis, Cirrhosis, Hepatomegaly |
OMIM:601539 |
Pneumocystosis |
|
Fever, Increased circulating lactate dehydrogenase concentration, Neoplasm, Weight loss |
ORPHA:723 |
Hypomagnesemia 3, Renal |
|
Elevated circulating parathyroid hormone level, Hyperuricemia, Hypomagnesemia, Polydipsia, Failur... |
OMIM:248250 |
Weaver Syndrome |
|
Inguinal hernia, Cryptorchidism, Limited elbow extension, Hydrocele testis, Camptodactyly, Limite... |
OMIM:277590 |
D-Glyceric Aciduria |
|
Abnormal circulating enzyme concentration or activity, Hyperglycinemia, Nonketotic hyperglycinemi... |
ORPHA:941 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Small for gestational age, Hypoglycemia, Microvesicular hepatic steatosis, Hyper... |
OMIM:220111 |
Allergic Bronchopulmonary Aspergillosis |
|
Low-grade fever, Weight loss |
ORPHA:1164 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Intestinal malrotation, Conjug... |
OMIM:620305 |
Mosaic Trisomy 9 |
|
Camptodactyly of finger, Intestinal malrotation, Asplenia, Cryptorchidism, Limitation of joint mo... |
ORPHA:99776 |
Methylmalonic Aciduria, Cbla Type |
|
Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Hyperglycinemia, Decreased methylmalonyl-Co... |
OMIM:251100 |
Hirschsprung Disease |
|
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Familial Multiple Lipomatosis |
|
Hyperlipidemia, Medulloblastoma, Odontogenic keratocysts of the jaw |
ORPHA:199276 |
Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Hypocalcemia |
OMIM:618440 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thyroid hypoplasia, Absent nipple, Aplasia of the thymus, Hypothyroidism, Congenital hypothyroidi... |
OMIM:620186 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Small for gestational age, Intestinal malrotation, Congenital diaphragmatic hernia, Neonatal insu... |
ORPHA:2255 |
Huntington Disease-Like 2 |
|
Weight loss |
OMIM:606438 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Diabetes mellitus, Pneumonia, Elevated circulating C-reactive protein concentration... |
ORPHA:36238 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Hyperactivity, Thyroid hemiagenesis, Abnormal eating beha... |
ORPHA:209905 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Hypochloremia, Hypokalemia, Hyperaldosteronism, Polydipsia, Failu... |
OMIM:602522 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Spherocytosis, Hyperinsulinemia |
ORPHA:66518 |
Thymoma |
|
Fever, Neoplasm of head and neck, Weight loss, Neoplasm of the lung, Neoplasia of the pleura, Neo... |
ORPHA:99867 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Hypercalcemia, Paraganglioma, Weight loss |
ORPHA:94080 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Weight loss |
OMIM:143880 |
Chronic Granulomatous Disease |
|
Hepatomegaly, Liver abscess, Sinusitis, Eczema, Splenomegaly, Otitis media, Inflammatory abnormal... |
ORPHA:379 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Polycystic ovaries, Increased circulating... |
ORPHA:1227 |
Fucosidosis |
|
Hepatomegaly, Failure to thrive, Abnormality of the gallbladder, Cardiomegaly |
ORPHA:349 |
22Q11.2 Deletion Syndrome |
|
Anorectal anomaly, Gastroesophageal reflux, Hypocalcemia, Hypoplasia of the thymus, Chronic otiti... |
ORPHA:567 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use, Limitation of joint mobility, Abnormality of connective tissue, Rheumatoid... |
ORPHA:399180 |
Schimke Immuno-Osseous Dysplasia |
|
Small for gestational age, Lymphoproliferative disorder, Hyperlipidemia, Non-Hodgkin lymphoma, Fa... |
ORPHA:1830 |
Omenn Syndrome |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Hypoproteinemia |
OMIM:603554 |
Attrv30M Amyloidosis |
|
Weight loss, Cardiomegaly |
ORPHA:85447 |
Glycogen Storage Disease Ii |
|
Fever, Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine... |
OMIM:232300 |
American Trypanosomiasis |
|
Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Infectious encephalitis |
ORPHA:3386 |
Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia, Decreased testicular size |
OMIM:612469 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Temperature instability, Hypothermia |
ORPHA:99027 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To |
|
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... |
OMIM:301083 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Inguinal hernia, Severe B lymphocytopenia, Superficial dermal perivascular inflamma... |
ORPHA:83617 |
Rheumatoid Arthritis |
|
Fever, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:180300 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Small for gestational age, Elevated circulating alanine aminotransferase conc... |
OMIM:618500 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Aggressive behavior, High, narrow palate, Recurrent pneumonia, Cleft palate, Fur... |
ORPHA:464738 |
Oculopharyngodistal Myopathy |
|
Weight loss |
ORPHA:98897 |
Helix Syndrome |
|
Hyperparathyroidism, Hypermagnesemia, Xerostomia, Hypokalemia, Polydipsia |
OMIM:617671 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Testicular adrenal rest tumor, ... |
ORPHA:361 |
Transketolase Deficiency |
|
Hepatomegaly, Seborrheic dermatitis, Patent ductus arteriosus, Uveitis, Conjunctivitis, Elevated ... |
ORPHA:488618 |
Cystic Fibrosis |
|
Hepatomegaly, Biliary cirrhosis, Hepatosplenomegaly, Cirrhosis, Steatorrhea, Failure to thrive, P... |
OMIM:219700 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Hepatomegaly, Pneumonia, Splenomegaly, Neoplasm, Chronic otitis media |
ORPHA:169090 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Panhypopituitarism, Hypogonadism, H... |
ORPHA:91351 |
Triploidy |
|
Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas |
ORPHA:3376 |
Cryptogenic Organizing Pneumonia |
|
Fever, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:1302 |
Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Hyperactivity, Decreased response to growth hormone stimulation test, High, narrow ... |
OMIM:615873 |
Glucose-Galactose Malabsorption |
|
Fever, Hypercalcemia, Weight loss, Hypernatremia, Failure to thrive |
ORPHA:35710 |
Oslam Syndrome |
|
Increased mean corpuscular volume, Abnormality of neutrophils |
ORPHA:2760 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia, Hepatic steatosis |
ORPHA:391665 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Asplenia, Annular pancreas, Tr... |
ORPHA:210122 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Temperature instability, Intermittent hypothermia |
OMIM:608643 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Scheie Syndrome |
|
Splenomegaly, Hepatomegaly, Rhinitis |
ORPHA:93474 |
Juvenile Huntington Disease |
|
Weight loss |
ORPHA:248111 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hepatomegaly |
OMIM:619053 |
Lissencephaly Due To Lis1 Mutation |
|
Neonatal hyperbilirubinemia, Aspiration pneumonia |
ORPHA:95232 |
Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder |
ORPHA:2869 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Fever, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:2902 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hypertriglyceridemia |
ORPHA:536532 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Abnormal circulating protein concentration, Increased circulating lactate dehydrogenase concentra... |
ORPHA:747 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
Gm1 Gangliosidosis |
|
Splenomegaly, Patent ductus arteriosus, Hepatosplenomegaly, Weight loss, Decreased beta-galactosi... |
ORPHA:354 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Impaired glucose tolerance, Maturity-onset diab... |
OMIM:137920 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Sple... |
OMIM:249100 |
Anaplastic Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Weight loss, Neoplasm of the lung, Malignant neoplasm of the cen... |
ORPHA:142 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cleft palate, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis... |
OMIM:612284 |
Trisomy 18 |
|
Cachexia |
ORPHA:3380 |
Acute Promyelocytic Leukemia |
|
Pancytopenia, Anorexia, Thrombocytopenia, Leukocytosis, Weight loss, Lymphadenopathy, Leukopenia,... |
ORPHA:520 |
Proteus Syndrome |
|
Cachexia, Testicular neoplasm, Enlarged polycystic ovaries, Splenomegaly, Retinal hamartoma, Neop... |
ORPHA:744 |
Familial Thrombocytosis |
|
Acute myeloid leukemia, Myelodysplasia, Splenomegaly, Chronic myelogenous leukemia, Weight loss |
ORPHA:71493 |
Renal Hypoplasia |
|
Polydipsia, Small for gestational age |
ORPHA:93101 |
Syndromic Diarrhea |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Patent ductus arteriosus, Abnormality of t... |
ORPHA:84064 |
Sotos Syndrome |
|
Flexion contracture, Gastroesophageal reflux, Chronic otitis media, Hypothyroidism, Flushing, Joi... |
ORPHA:821 |
Igg4-Related Aortitis |
|
Fever, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:449400 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Falls, Difficulty walking |
ORPHA:3198 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea... |
ORPHA:652 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration |
OMIM:253800 |
Diamond-Blackfan Anemia |
|
Acute myeloid leukemia, Thrombocytosis, Pure red cell aplasia, Erythroid hypoplasia, Reticulocyto... |
ORPHA:124 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Conjunctival hamartoma, Weight loss |
ORPHA:312 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Fever, Hepatomegaly |
OMIM:229700 |
Takayasu Arteritis |
|
Fever, Weight loss |
ORPHA:3287 |
Bone Marrow Failure Syndrome 3 |
|
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... |
OMIM:617052 |
Diffuse Alveolar Hemorrhage |
|
Fever, Elevated circulating creatinine concentration, Weight loss |
ORPHA:90060 |
Pentalogy Of Cantrell |
|
Omphalocele, Absent gallbladder, Congenital diaphragmatic hernia, Cleft palate, Polysplenia |
ORPHA:1335 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Systemic Capillary Leak Syndrome |
|
Pancreatitis, Multiple myeloma, Weight loss |
ORPHA:188 |
Thymic Carcinoma |
|
Neoplasm of the thymus, Weight loss |
ORPHA:99868 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Nail-biting, Eczema, Aggressive behavior, Hair-pulling, Recurrent pneumonia, Polyph... |
OMIM:620330 |
Seckel Syndrome |
|
Cachexia |
ORPHA:808 |
Genitopalatocardiac Syndrome |
|
Abnormal mesentery morphology, Abnormality of the gallbladder |
ORPHA:2075 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Aggressive behavior, Cryptorchidism, Compulsive behaviors,... |
ORPHA:163956 |
Familial Tumoral Calcinosis |
|
Splenomegaly, Hepatomegaly, Skin rash, Neoplasm of the skin |
ORPHA:53715 |
Bohring-Opitz Syndrome |
|
Cardiomegaly, Limitation of joint mobility, Bilateral wrist flexion contracture, Cleft palate, Co... |
ORPHA:97297 |
Giant Cell Arteritis |
|
Fever, Hepatic failure, Weight loss |
ORPHA:397 |
Perlman Syndrome |
|
Distal ileal atresia, Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age, C... |
OMIM:267000 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Fever, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:324964 |
Trisomy 10P |
|
Absent gallbladder, Small for gestational age, Dysphagia, Gastroesophageal reflux, High palate, R... |
ORPHA:171929 |
Combined Deficiency Of Factor V And Factor Viii |
|
Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Williams Syndrome |
|
Osteopenia, Elevated circulating creatine kinase concentration, Cardiomegaly, Rectal prolapse, Ga... |
ORPHA:904 |
Rett Syndrome |
|
Increased serum pyruvate, Cholecystitis, Hyperammonemia |
ORPHA:778 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... |
ORPHA:276621 |
Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Large for gestational age, Cardiomegaly, Neonatal hypoglycemia, ... |
ORPHA:116 |
Stevens-Johnson Syndrome |
|
Acute hepatic failure, Fever, Elevated hepatic transaminase, Weight loss, Pancreatitis |
ORPHA:36426 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Weight loss |
OMIM:188580 |
Isolated Succinate-Coq Reductase Deficiency |
|
Left ventricular hypertrophy, Weight loss |
ORPHA:3208 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Hypoalbuminemia |
OMIM:614748 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Inflammatory abnormality of the skin, Failure to thr... |
OMIM:610768 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus ra... |
OMIM:306400 |
Pulmonary Alveolar Microlithiasis |
|
Fever, Hepatomegaly, Abnormal circulating calcium concentration, Weight loss, Increased circulati... |
ORPHA:60025 |
Senior-Loken Syndrome 1 |
|
Polydipsia, Elevated circulating creatinine concentration, Anemia |
OMIM:266900 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Fever, Weight loss |
ORPHA:411703 |
Nephronophthisis 4 |
|
Polydipsia, Anemia |
OMIM:606966 |
Ileal Neuroendocrine Tumor |
|
Elevated hepatic transaminase, Extrahepatic cholestasis, Weight loss, Small intestine carcinoid, ... |
ORPHA:100078 |
Holocarboxylase Synthetase Deficiency |
|
Hyperammonemia, Weight loss |
ORPHA:79242 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Hypokalemia, Weight loss |
OMIM:613239 |
Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Polysplenia, Ascites, Enlarged kidney |
OMIM:200995 |
Nephronophthisis 1 |
|
Polydipsia, Anemia |
OMIM:256100 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia |
OMIM:618056 |
Brucellosis |
|
Fever, Hepatomegaly, Liver abscess, Small for gestational age, Elevated circulating C-reactive pr... |
ORPHA:1304 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hyperca... |
ORPHA:29072 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Anemia, Opisthotonus |
OMIM:184850 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia |
ORPHA:1969 |
Perry Syndrome |
|
Weight loss |
ORPHA:178509 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Fever, Weight loss |
ORPHA:79127 |
Diamond-Blackfan Anemia 7 |
|
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia |
OMIM:612562 |
Huntington Disease-Like 1 |
|
Weight loss |
ORPHA:157941 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Heat intolerance |
OMIM:612132 |
Trisomy 8P |
|
Multiple joint contractures, Cryptorchidism, Malrotation of small bowel, Cleft palate, Aplasia/Hy... |
ORPHA:264450 |
Peroxisome Biogenesis Disorder 4B |
|
Hepatomegaly, Decreased liver function, Recurrent fever |
OMIM:614863 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Inability to walk, Exaggerated startle response |
OMIM:609541 |
Elliptocytosis 2 |
|
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis |
OMIM:130600 |
Yao Syndrome |
|
Recurrent fever, Weight loss |
OMIM:617321 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Hyperamm... |
OMIM:222700 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Exocrine pancreatic insufficiency, Weight loss, Steatorrhea |
ORPHA:309031 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hypercalcemia, Hyperkalemia, Weight loss, Inc... |
ORPHA:95409 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Inability to walk, Exaggerated startle response |
OMIM:620114 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response, Ataxia |
OMIM:618598 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Esoph... |
ORPHA:1018 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Difficulty walking |
ORPHA:320406 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistan... |
ORPHA:3464 |
16Q24.3 Microdeletion Syndrome |
|
Increased mean corpuscular volume, Thrombocytopenia |
ORPHA:261250 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Patent ductus arteriosus, Hypothermia, Decreased serum iron |
ORPHA:438213 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
Eisenmenger Syndrome |
|
Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici... |
ORPHA:97214 |
Vacterl/Vater Association |
|
Abnormality of the pancreas, Abnormality of the gallbladder |
ORPHA:887 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Weight loss, Low-grade fever, Hepatosplenomegaly |
ORPHA:85408 |
Fatal Familial Insomnia |
|
Fever, Weight loss |
OMIM:600072 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Ataxia, Broad-based gait, Dystonia |
ORPHA:438216 |
Gaucher Disease, Type Iiic |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:231005 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response, Ataxia |
OMIM:616881 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Aggressive behavior, Hypothyroidism, Self-mutilation, Submucous cleft ha... |
OMIM:607872 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Small for gestational age, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:555874 |
Marfan Syndrome |
|
Slender build, Cachexia |
ORPHA:558 |
Wiedemann-Rautenstrauch Syndrome |
|
Failure to thrive, Hypertriglyceridemia, Small for gestational age |
OMIM:264090 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Cholecystitis |
ORPHA:309256 |
Aapoaiv Amyloidosis |
|
Hyperlipidemia, Elevated circulating creatinine concentration |
ORPHA:439232 |
Carney-Stratakis Syndrome |
|
Gastrointestinal stroma tumor, Paraganglioma, Weight loss |
ORPHA:97286 |
Immunodeficiency 96 |
|
Increased proportion of gamma-delta T cells, Increased mean corpuscular volume |
OMIM:619774 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Zttk Syndrome |
|
Absent gallbladder, Craniosynostosis, Flexion contracture, Submucous cleft hard palate, High pala... |
OMIM:617140 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Paradoxical increased cortisol secretion on dexamethasone suppression ... |
ORPHA:99889 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Cholecystitis |
ORPHA:309263 |
Asparagine Synthetase Deficiency |
|
Tremor, Exaggerated startle response, Hypoasparaginemia |
OMIM:615574 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Adrenocortical carcinoma, Pancreatic hyperplasia, Gonadoblastoma, Hep... |
OMIM:130650 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Eosinophilic Fasciitis |
|
Weight loss |
ORPHA:3165 |
Metachromatic Leukodystrophy, Adult Form |
|
Cholecystitis, Neoplasm of the gallbladder |
ORPHA:309271 |
Marchiafava-Bignami Disease |
|
Addictive alcohol use, Aggressive behavior |
ORPHA:221074 |
Glossopharyngeal Neuralgia |
|
Schwannoma, Neoplasm, Weight loss |
ORPHA:221098 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Poems Syndrome |
|
Lymphoproliferative disorder, Weight loss, Hemangioma, Ascites, Visceromegaly |
ORPHA:2905 |
Pyomyositis |
|
Fever, Testicular teratoma, Weight loss |
ORPHA:764 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Cleft palate, Decreased calvari... |
OMIM:617925 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Hyperpro... |
ORPHA:29073 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
ORPHA:309246 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia |
ORPHA:90154 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:600376 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Inability to walk, Exaggerated startle response |
OMIM:617864 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Hypocalcemia, Cleft palate, Cryptorchidism |
OMIM:300712 |
Stickler Syndrome |
|
Slender build, Cachexia |
ORPHA:828 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Weight loss |
ORPHA:216866 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Abnormal mesente... |
ORPHA:449395 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Igg4-Related Retroperitoneal Fibrosis |
|
Fever, Elevated circulating C-reactive protein concentration, Elevated circulating creatinine con... |
ORPHA:49041 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Diamond-Blackfan Anemia 1 |
|
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... |
OMIM:105650 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Hepatosplenomegaly |
OMIM:268800 |
Loeffler Endocarditis |
|
Left ventricular hypertrophy, Weight loss |
ORPHA:75566 |
Juvenile Dermatomyositis |
|
Calcinosis, Fever, Elevated circulating creatine kinase concentration, Elevated circulating C-rea... |
ORPHA:93672 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Hepatosplenomegaly |
ORPHA:309155 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Recurrent fever, Hypothermia, Unexplained fevers |
ORPHA:642 |
Sarcoidosis, Susceptibility To, 1 |
|
Splenomegaly, Hepatomegaly, Fever, Weight loss |
OMIM:181000 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Norrie Disease |
|
Vascular neoplasm, Neoplasm of the eye, Failure to thrive, Cachexia |
ORPHA:649 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia |
ORPHA:90153 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Telangiectasia, Hematochezia, Hamartomatous polyposis, Gastr... |
OMIM:175050 |
Perry Syndrome |
|
Weight loss |
OMIM:168605 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Obesity, Weight loss |
ORPHA:251071 |
Malt Lymphoma |
|
Fever, B-cell lymphoma, Weight loss |
ORPHA:52417 |
Rat-Bite Fever |
|
Abdominal aseptic abscess, Fever, Pancreatitis, Weight loss |
ORPHA:31205 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Increased i... |
ORPHA:79102 |
Woodhouse-Sakati Syndrome |
|
Choreoathetosis, Hyperlipidemia, Dystonia |
OMIM:241080 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Tremor, Exaggerated startle response |
OMIM:620327 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Atelis Syndrome 2 |
|
Thrombocytopenia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemi... |
OMIM:620185 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Gastroesophageal reflux, Enamel hypoplasia, High palate, Neonatal hyperbilirubinemia |
OMIM:300896 |
Nocardiosis |
|
Fever, Peritonitis, Liver abscess, Weight loss |
ORPHA:31204 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Fever, Weight loss |
ORPHA:183 |
Oromandibular Dystonia |
|
Weight loss |
ORPHA:93958 |
Malignant Atrophic Papulosis |
|
Peritonitis, Weight loss |
ORPHA:679 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ... |
OMIM:187300 |
Choreoacanthocytosis |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
ORPHA:2388 |
Mucolipidosis Type Ii |
|
Left ventricular hypertrophy, Splenomegaly, Weight loss, Hepatosplenomegaly |
ORPHA:576 |
Dermatomyositis |
|
Fever, Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Weight loss, Neoplasm, Lung ade... |
ORPHA:221 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Dystonia |
OMIM:272750 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Fever, Recurrent fever, Elevated circulating C-reactive protein concentration, Weight loss |
OMIM:301074 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Absent gallbladder |
ORPHA:3186 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Short Syndrome |
|
Weight loss |
ORPHA:3163 |
Parkinson Disease 4, Autosomal Dominant |
|
Weight loss |
OMIM:605543 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Steinfeld Syndrome |
|
Absent gallbladder, Bifid uvula, Median cleft lip and palate |
OMIM:184705 |
Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
Riddle Syndrome |
|
Recurrent fever, Elevated circulating alpha-fetoprotein concentration, Weight loss |
ORPHA:420741 |
Hermansky-Pudlak Syndrome |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Weight loss |
ORPHA:79430 |
Gm1 Gangliosidosis Type 1 |
|
Hepatosplenomegaly, Exaggerated startle response, Dystonia |
ORPHA:79255 |
Fabry Disease |
|
Left ventricular hypertrophy, Fever, Hyperlipidemia, Abnormal circulating lipid concentration |
ORPHA:324 |
Granulomatosis With Polyangiitis |
|
Fever, Pancreatitis, Elevated circulating C-reactive protein concentration, Weight loss |
ORPHA:900 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Hyperextensibility at elbow, Failure to thrive in infancy, Sagittal craniosyn... |
ORPHA:500150 |
Fanconi Anemia |
|
Myelodysplasia, Patent ductus arteriosus, Weight loss, Abnormality of the liver, Neoplasm |
ORPHA:84 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response |
OMIM:617301 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Pancreatic hypoplasia, Reduced pancreatic beta cells, Weight loss |
ORPHA:99885 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Hyperkalemia, Testicular adrenal rest tumor, ... |
ORPHA:90794 |
Smith-Lemli-Opitz Syndrome |
|
Abnormality of the gallbladder, Elevated circulating 7-dehydrocholesterol concentration |
ORPHA:818 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Mildly elevated creatine kinase, Weight loss |
OMIM:607459 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Dystonia |
ORPHA:521426 |
Peters-Plus Syndrome |
|
Joint laxity, Bilobate gallbladder, Craniosynostosis, Limited elbow movement, Cryptorchidism, Bil... |
OMIM:261540 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response |
OMIM:617281 |
Acrodermatitis Enteropathica |
|
Failure to thrive, Weight loss |
ORPHA:37 |
Granulomatosis With Polyangiitis |
|
Fever, Weight loss |
OMIM:608710 |
Wolf-Hirschhorn Syndrome |
|
Abnormality of the gallbladder, Abdominal situs inversus |
ORPHA:280 |
Gerstmann-Straussler Disease |
|
Weight loss |
OMIM:137440 |
Ring Chromosome 13 Syndrome |
|
Primary hypothyroidism, Hypoplasia of the gallbladder, High palate, Anal atresia |
ORPHA:96176 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response |
OMIM:617527 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Hypokalemia, Decreased circulating c... |
ORPHA:3337 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Weight loss |
ORPHA:424 |
Behçet Disease |
|
Fever, Splenomegaly, Pancreatitis, Weight loss |
ORPHA:117 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Retroperitoneal fibrosis, Fever, Weight loss |
ORPHA:79078 |
Oculopharyngodistal Myopathy 1 |
|
Elevated circulating creatine kinase concentration, Weight loss |
OMIM:164310 |
Reactive Arthritis |
|
Fever, Weight loss |
ORPHA:29207 |
Hereditary Late-Onset Parkinson Disease |
|
Weight loss |
ORPHA:411602 |
Chronic Graft Versus Host Disease |
|
Elevated hepatic transaminase, Ascites, Weight loss |
ORPHA:99921 |
Familial Gestational Hyperthyroidism |
|
Weight loss |
ORPHA:99819 |
Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Fever, Elevated circulating C-reactive protein concentration, Elevated circulating creatinine con... |
ORPHA:91500 |
Tsh-Secreting Pituitary Adenoma |
|
Hypokalemia, Weight loss |
ORPHA:91347 |
Congenital Fiber-Type Disproportion Myopathy |
|
Failure to thrive, Weight loss |
ORPHA:2020 |
Goodpasture Syndrome |
|
Fever, Weight loss, Increased blood urea nitrogen |
OMIM:233450 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response |
OMIM:618367 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Weight loss |
ORPHA:740 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response |
OMIM:619522 |