Hepatocellular Carcinoma |
|
Hepatocellular carcinoma, Micronodular cirrhosis, Subacute progressive viral hepatitis |
OMIM:114550 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Elevated gamma-gluta... |
OMIM:614480 |
Budd-Chiari Syndrome |
|
Cirrhosis, Hepatocellular carcinoma |
OMIM:600880 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Jaundice, Elevated c... |
OMIM:619658 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Complement Component C1S Deficiency |
|
Hepatitis, Hashimoto thyroiditis |
OMIM:613783 |
Idiopathic Copper-Associated Cirrhosis |
|
Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
Sea-Blue Histiocyte Disease |
|
Splenomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... |
OMIM:269600 |
Splenoportal Vascular Anomalies |
|
Cirrhosis, Splenomegaly, Hepatic fibrosis, Anomalous splenoportal venous system |
OMIM:271500 |
Porphyria Cutanea Tarda, Type I |
|
Hepatic fibrosis, Eczema |
OMIM:176090 |
Cholestasis, Progressive Familial Intrahepatic, 4 |
|
Portal hypertension, Intrahepatic cholestasis, Cirrhosis, Hepatocellular carcinoma, Hepatic failure |
OMIM:615878 |
Cholestasis-Lymphedema Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alkalin... |
OMIM:214900 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal fibrosis, Hepatic fibrosis... |
ORPHA:369 |
Porphyria Cutanea Tarda |
|
Reduced uroporphyrinogen decarboxylase activity, Cirrhosis, Hepatocellular carcinoma |
OMIM:176100 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
OMIM:613812 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... |
OMIM:616828 |
Hemochromatosis, Type 2B |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis |
OMIM:613313 |
Fadd-Related Immunodeficiency |
|
Hepatic fibrosis, Decreased liver function |
ORPHA:306550 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... |
ORPHA:65682 |
Obesity And Hypopigmentation |
|
Overgrowth, Hepatic steatosis, Obesity |
OMIM:620195 |
Hemochromatosis, Neonatal |
|
Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonatal jaundice, H... |
OMIM:231100 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Periportal fibrosis |
OMIM:213010 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... |
OMIM:301045 |
Alpha-1-Antitrypsin Deficiency |
|
Elevated hepatic transaminase, Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma |
OMIM:613490 |
Alpha-1-Antitrypsin Deficiency |
|
Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Elevated ... |
OMIM:600803 |
Enterokinase Deficiency |
|
Hypoproteinemia |
OMIM:226200 |
Hepatorenocardiac Degenerative Fibrosis |
|
Elevated hepatic transaminase, Portal hypertension, Hypersplenism, Jaundice, Hepatosplenomegaly, ... |
OMIM:619902 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Hepatic bridgin... |
OMIM:613759 |
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification |
|
Hepatic failure, Cirrhosis, Portal hypertension |
OMIM:210050 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Micronodular cirrhosis, Esophageal carci... |
ORPHA:139507 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Cholestasis, Progressive Familial Intrahepatic, 2 |
|
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Intermittent jaundice, Elevated circulating... |
OMIM:601847 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Hepat... |
ORPHA:905 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Portal inflammat... |
OMIM:602347 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Intrahepati... |
OMIM:607765 |
Immunodeficiency 56 |
|
Cholangitis, Chronic hepatitis due to cryptosporidium infection, Recurrent pneumonia, Bronchiecta... |
OMIM:615207 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hepatic failure, Hepatic bridging fibrosis |
OMIM:616719 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly |
OMIM:618955 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Neonatal Hemochromatosis |
|
Congenital hepatic fibrosis, Prolonged neonatal jaundice |
ORPHA:446 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... |
OMIM:278000 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Hepatic failure |
ORPHA:75234 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
Cholestasis, Progressive Familial Intrahepatic, 6 |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Periportal fibrosis, Elevated circulatin... |
OMIM:619484 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Eczema, Decreased liver function, Cirrhosis |
ORPHA:79278 |
Gracile Syndrome |
|
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration |
ORPHA:53693 |
Bile Acid Malabsorption, Primary, 2 |
|
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... |
OMIM:619481 |
Gastritis, Familial Giant Hypertrophic |
|
Hypoproteinemia |
OMIM:137280 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic s... |
OMIM:616829 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Osteoarthritis, Hepatic steatosis, Cirrhosis |
OMIM:606069 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... |
OMIM:241520 |
Complement Component 4B Deficiency |
|
Recurrent otitis media, Recurrent sinusitis, Chronic active hepatitis, Recurrent pneumonia |
OMIM:614379 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2 |
|
Myeloid leukemia, Leukemia, Cirrhosis |
OMIM:614743 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Biliary tract abnormality, Multiple li... |
ORPHA:1414 |
Congenital Disorder Of Glycosylation, Type Iij |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Splenomegaly, Elevated circulatin... |
OMIM:613489 |
Pediatric Hepatocellular Carcinoma |
|
Portal vein thrombosis, Hepatomegaly, Hepatic fibrosis, Hepatic necrosis |
ORPHA:33402 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Autoinflammatory-Pancytopenia Syndrome |
|
Membranoproliferative glomerulonephritis, Chilblains, Intestinal inflammation, Hepatosplenomegaly... |
OMIM:619858 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration |
OMIM:109130 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... |
ORPHA:90003 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, In... |
OMIM:613027 |
Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
Coach Syndrome 2 |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Portal fibrosis, Hepatic fibrosis |
OMIM:619111 |
Hemochromatosis, Type 2A |
|
Splenomegaly, Hepatomegaly, Cirrhosis, Arthritis |
OMIM:602390 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Cirrhosis |
OMIM:178500 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Cirrhosi... |
OMIM:616860 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Glycogen Storage Disease Vi |
|
Elevated hepatic transaminase, Hepatomegaly, Increased hepatic glycogen content, Failure to thriv... |
OMIM:232700 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic steatosis, Hepatic fibrosis |
ORPHA:280356 |
Trichohepatoenteric Syndrome 2 |
|
Hepatomegaly, Small for gestational age, Chronic hepatitis, Colitis, Cirrhosis, Failure to thrive |
OMIM:614602 |
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome |
|
Acute hepatic failure, Hepatic fibrosis, Hepatosplenomegaly |
ORPHA:466794 |
Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Hepatic fibrosis, Obesity, Cholestasis |
OMIM:616629 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
|
Hypoproteinemia |
OMIM:221400 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Recurrent otitis media, Splenomegaly, Hepatitis |
ORPHA:444463 |
Buschke-Ollendorff Syndrome |
|
Osteopoikilosis, Flexion contracture, Joint stiffness |
OMIM:166700 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatomegaly, Acne, Recurrent skin infections, Erythema nodosum, Splenomegaly, Hepatitis, Follicu... |
OMIM:300635 |
Glycogen Storage Disease Iii |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis |
OMIM:232400 |
Osteomesopyknosis |
|
Increased bone mineral density |
OMIM:166450 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Atretic gallbladder, Sple... |
ORPHA:30391 |
Galactosemia I |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:230400 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Mpi-Cdg |
|
Hepatomegaly, Abnormal circulating enzyme concentration or activity, Portal hypertension, Hepatic... |
ORPHA:79319 |
Morbid Obesity And Spermatogenic Failure |
|
Hepatic steatosis, Obesity |
OMIM:615703 |
Hemochromatosis, Type 3 |
|
Elevated hepatic transaminase, Arthritis, Cirrhosis |
OMIM:604250 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Congenital Macroglossia |
|
Neurofibroma, Abnormal hepatic glycogen storage |
ORPHA:2430 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density |
OMIM:602475 |
Glycogen Storage Disease Iv |
|
Portal hypertension, Hepatosplenomegaly, Cirrhosis, Hepatic failure, Failure to thrive |
OMIM:232500 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Increased muscle lipid content |
OMIM:610717 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
|
Hypoproteinemia |
OMIM:207731 |
Cholestasis, Progressive Familial Intrahepatic, 5 |
|
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Jaundice, Eleva... |
OMIM:617049 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity |
OMIM:613375 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... |
ORPHA:69663 |
Cirrhosis, Familial |
|
Jaundice, Micronodular cirrhosis, Fulminant hepatitis, Biliary cirrhosis, Cirrhosis |
OMIM:215600 |
Rotor Syndrome |
|
Abnormal circulating enzyme concentration or activity, Jaundice, Storage in hepatocytes, Intermit... |
ORPHA:3111 |
Cog4-Cdg |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive in infancy, Hepa... |
ORPHA:263501 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:605814 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Clavicular sclerosis |
OMIM:615198 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
Nephronophthisis 15 |
|
Elevated hepatic transaminase, Obesity |
OMIM:614845 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
Chylomicron Retention Disease |
|
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... |
OMIM:246700 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619048 |
Transaldolase Deficiency |
|
Cirrhosis, Hepatosplenomegaly |
ORPHA:101028 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic failure, Failure to thrive |
OMIM:602579 |
Lymphangiectasia, Intestinal |
|
Neonatal hypoproteinemia |
OMIM:152800 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis, Hepatic failure |
OMIM:615630 |
Bile Acid Synthesis Defect, Congenital, 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Failure to thrive, Elevated ci... |
OMIM:214950 |
Laurence-Moon Syndrome |
|
Congenital hepatic fibrosis, Obesity |
ORPHA:2377 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis |
ORPHA:436182 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Failure to thrive, Abnormal ci... |
ORPHA:79303 |
Transaldolase Deficiency |
|
Hepatomegaly, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Hepatosplenomegaly... |
OMIM:606003 |
Dentin Dysplasia |
|
Increased bone mineral density |
ORPHA:1653 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Abnormal mus... |
ORPHA:367 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Hjv Or Hamp-Related Hemochromatosis |
|
Elevated hepatic transaminase, Congenital hepatic fibrosis, Abnormality of endocrine pancreas phy... |
ORPHA:79230 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, E... |
OMIM:615486 |
Hepatitis, Fulminant Viral, Susceptibility To |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Fulminant hepatitis, Hepatic failure, Hash... |
OMIM:618549 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
|
Hypoproteinemia |
ORPHA:1116 |
Immunodeficiency 43 |
|
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia |
OMIM:241600 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Intrahe... |
OMIM:617093 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:264580 |
Senior-Loken Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:3156 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614582 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Hepatic st... |
OMIM:615438 |
Melorheostosis With Osteopoikilosis |
|
Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Failure to thrive, Hepatic failure, Hepatic steatosis |
OMIM:617872 |
Hepatic Veno-Occlusive Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight |
ORPHA:890 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:79084 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Ulcerative colitis, Abnorm... |
ORPHA:562639 |
Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia |
ORPHA:398063 |
Nephrotic Syndrome, Type 22 |
|
Hypoproteinemia |
OMIM:619155 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Cirrhosis |
ORPHA:363400 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Cholestasis |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Failure to thrive, Childhood-onset truncal obesity, Obesity, Cholestasis |
ORPHA:71526 |
Joubert Syndrome 9 |
|
Hepatic fibrosis |
OMIM:612285 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis |
OMIM:613280 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:601820 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Hypocholesterolemia |
OMIM:610539 |
Adams-Oliver Syndrome 6 |
|
Splenomegaly, Hepatic fibrosis, Portal hypertension |
OMIM:616589 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Cortical sclerosis, Hyperkalemia, Elevated circulating creatinine... |
OMIM:620366 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Osteoporosis, Increased bone density with cystic changes, Joint s... |
OMIM:136300 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Elevated hepatic transaminase, Conjunctivitis, Elevated gamma-glutamyltransferase level, Cirrhosi... |
OMIM:242150 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Failure to thrive, Hepatic steatosis |
ORPHA:26792 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... |
OMIM:251880 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Recurrent bacterial skin infections, Abnormal cir... |
ORPHA:101330 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Increased hepatic glycogen content, Large for gestational age |
ORPHA:293964 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Small for gestational age, Macronodular cirrhosis |
OMIM:215250 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1 |
|
Myeloid leukemia, Cirrhosis, Myelodysplasia |
OMIM:614742 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... |
OMIM:264470 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Obesity |
ORPHA:329249 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Clavicular sclerosis, Abnormal cortical bone morphology, Generalized o... |
ORPHA:2790 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Hepatic fibrosis, Portal hypertension |
OMIM:617341 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:256450 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Hepatic steatosis |
OMIM:615918 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Congenital Disorder Of Glycosylation, Type Iih |
|
Interface hepatitis, Elevated serum transaminases during infections, Failure to thrive in infancy... |
OMIM:611182 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis |
ORPHA:298 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Hepatitis, Bronchiectasis, Arthri... |
ORPHA:33110 |
Nephronophthisis 16 |
|
Periportal fibrosis, Cholestasis |
OMIM:615382 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Asplenia, Hepatitis, Thymoma, Chronic hepatitis, Chronic mucocutaneous candidiasis, Keratoconjunc... |
OMIM:269200 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Hepatic steatosis |
OMIM:608709 |
Primary Biliary Cholangitis |
|
Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Gastrointestinal inflammation, Abnor... |
ORPHA:186 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cirrhosis, Hepatocellular carcinoma |
OMIM:235200 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hepatomegaly, Splenomegaly, Hepatitis, Chronic hepatitis, Sclerosing cholangitis, Enteroviral enc... |
OMIM:308230 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Immunodeficiency 47 |
|
Elevated hepatic transaminase, Hepatomegaly, Accessory spleen, Failure to thrive, Elevated circul... |
OMIM:300972 |
Pancreatic insufficiency, combined exocrine |
|
Hypoproteinemia |
OMIM:260450 |
Adenocarcinoma Of The Esophagus |
|
Esophageal carcinoma, Barrett esophagus, Obesity |
ORPHA:99976 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotrans... |
OMIM:256810 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Failure to thrive, Macrovesicular hepatic steatosis |
OMIM:618234 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hepatic steatosis, Cirrhosis |
OMIM:604367 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Hepatic steatosis |
OMIM:615119 |
Medullary Thyroid Carcinoma |
|
Neoplasm of the skeletal system, Abnormal liver parenchyma morphology, Neoplasm of the lung, Weig... |
ORPHA:1332 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... |
ORPHA:566943 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Hepatitis |
ORPHA:363523 |
Reynolds Syndrome |
|
Hepatomegaly, Skin rash, Jaundice, Arthritis, Keratoconjunctivitis sicca, Cirrhosis, Infectious e... |
ORPHA:779 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Cirrhosis |
OMIM:613987 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis |
ORPHA:79087 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Proportionate tall stature, Cirrhosis, Failure to thrive, Hepatic steatosis |
ORPHA:528 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Inflammation of the large... |
OMIM:614576 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:79240 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:3152 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Flexion contracture, Hypoproteinemia |
OMIM:608093 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Bardet-Biedl Syndrome 19 |
|
Hepatic steatosis, Obesity |
OMIM:615996 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Pneumonia, Recurrent pneumonia, Hepatitis, Erythroderma, Hepatosplenomegaly, Otitis media, Chroni... |
ORPHA:169160 |
Intermediate Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Cortical sclerosis, Generalized osteosclerosis, Increased sus... |
ORPHA:210110 |
Coach Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Hepatic fibrosis,... |
OMIM:216360 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Asplenia, Cholestasis, Hepatic fibrosis, ... |
OMIM:615415 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... |
ORPHA:2485 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Recurrent pneumonia, ... |
ORPHA:47 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Splenomegaly, Hepatomegaly, Hepatic steatosis, Hepatosplenomegaly |
OMIM:612526 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia |
ORPHA:2494 |
Osteootohepatoenteric Syndrome |
|
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Portal fibrosis, Hepatic fibrosis, Pr... |
OMIM:619377 |
Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o... |
ORPHA:231222 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladder, Elevated alkaline ... |
ORPHA:171 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Failure to thrive, Microvesicular hepatic steatosis, Jaundice, Cho... |
OMIM:617156 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Acute hepatic failure, Failure to thrive in infancy, Cholangitis, Portal hypertension, Hypersplen... |
ORPHA:228426 |
Bardet-Biedl Syndrome |
|
Hepatic fibrosis, Obesity |
ORPHA:110 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Esophagitis, He... |
ORPHA:541423 |
Peroxisome Biogenesis Disorder 1B |
|
Hepatomegaly, Hepatic fibrosis, Cirrhosis |
OMIM:601539 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:615595 |
Beta-Thalassemia |
|
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis |
ORPHA:848 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Abnormal circulating enzyme concentration or activity, Obesity |
ORPHA:171706 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Hepatic steatosis |
OMIM:615980 |
Senior-Boichis Syndrome |
|
Elevated hepatic transaminase, Malformation of the hepatic ductal plate, Portal hypertension, Con... |
ORPHA:84081 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatic steatosis, Ele... |
OMIM:619386 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... |
ORPHA:26793 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Failure to thr... |
ORPHA:79322 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Increased circulating lactate dehydrogenase concentr... |
OMIM:600649 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Splenomegaly, Cirrhosis, Hepatic steatosis, Pancreatitis |
ORPHA:79083 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,... |
ORPHA:139402 |
Bardet-Biedl Syndrome 21 |
|
Elevated hepatic transaminase, Overweight, Obesity |
OMIM:617406 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Splenomegaly, Weight loss, Arthritis, Cirr... |
ORPHA:465508 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Micronodular cirrhosis, Obesity, Increased intramyoc... |
ORPHA:98907 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis |
ORPHA:300536 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Multiple lipomas, Thyroid carcinoma, Hepatic steatosis |
ORPHA:210548 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Dengue Fever |
|
Hypoproteinemia |
ORPHA:99828 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Acute hepatitis, Failure to thrive, Decreased liver function, Hepatomegaly |
OMIM:238970 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Osteopetrosis, Autosomal Dominant 1 |
|
Thickened cortex of long bones, Generalized osteosclerosis, Calvarial osteosclerosis, Osteopetrosis |
OMIM:607634 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Colit... |
OMIM:209920 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Necrotizing enterocolitis, Hepatocellular necrosis, Periportal fibrosis, Hepatic st... |
OMIM:201475 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Astrocytoma, Lymphoma, Panniculitis, Cirrhosis, Hepatic steatosis |
ORPHA:79086 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hepatic steatosis |
OMIM:613877 |
Lichen Planopilaris |
|
Neoplasm of the oral cavity, Hepatitis |
ORPHA:525 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Hepatic melanin-l... |
OMIM:208085 |
Mednik Syndrome |
|
Cirrhosis, Hepatic fibrosis, Cholestasis |
OMIM:609313 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Increased inflammatory response, Elevated circulating aspartate aminotransferase co... |
ORPHA:158061 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestatic liver di... |
OMIM:613404 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis |
OMIM:194380 |
Glycogen Storage Disease Ixb |
|
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content, Increased muscle glycogen content |
OMIM:261750 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Adult-Onset Still Disease |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Skin rash, Splenomegaly, Myocarditis, ... |
ORPHA:829 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Increased hepatic echo... |
OMIM:261680 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Microvesicular hepatic steatosis, S... |
OMIM:619418 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Hypersplenism, Splenomegaly, Jaundice, Chronic hepatitis, Hepatospl... |
ORPHA:231226 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hypoproteinemia, Hypoalbuminemia |
OMIM:226300 |
Adrenomyodystrophy |
|
Failure to thrive, Hepatic steatosis |
ORPHA:977 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Abnormal circulating enzyme concentration or activity, Failure to thrive, Hepatic steatosis, Decr... |
ORPHA:70472 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Congenital hepatic fibrosis, Sp... |
ORPHA:1454 |
Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis |
OMIM:122860 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Obesity, Large for gestational age |
OMIM:240900 |
Melioidosis |
|
Foot osteomyelitis, Liver abscess, Pneumonia, Abnormality of the spleen, Osteoarthritis, Hepatiti... |
ORPHA:31202 |
Primary Intestinal Lymphangiectasia |
|
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
ORPHA:90362 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:255120 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Decreased 3-hydroxyacyl-CoA dehydrogenase level, Hepatic steatosis, He... |
OMIM:231530 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:201450 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Osteoporosis, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Citrullinemia, Classic |
|
Hepatomegaly, Failure to thrive, Cirrhosis |
OMIM:215700 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Eczema, Splenomegaly, Lymphadenitis, Cholestasis, In... |
OMIM:615895 |
Graft Versus Host Disease |
|
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... |
ORPHA:39812 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:616433 |
Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density |
OMIM:618406 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... |
OMIM:263200 |
Aicardi-Goutieres Syndrome 9 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Chilblains, Portal... |
OMIM:619487 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:614921 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts |
OMIM:612284 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... |
OMIM:212140 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Eczema, Obesity |
ORPHA:3055 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... |
ORPHA:79095 |
Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Cryoglobulinemic Vasculitis |
|
Hepatomegaly, Viral hepatitis, Splenomegaly, Arthritis, Abnormality of the liver, Keratoconjuncti... |
ORPHA:91138 |
Syndromic X-Linked Intellectual Disability 7 |
|
Obesity |
ORPHA:85274 |
Donohue Syndrome |
|
Severe failure to thrive, Hepatic fibrosis, Pancreatic islet-cell hyperplasia, Cholestasis |
OMIM:246200 |
Congenital Isolated Acth Deficiency |
|
Hepatitis, Prolonged neonatal jaundice |
ORPHA:199296 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Cholestasis, Portal fibrosis, Failur... |
OMIM:614300 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hepatic steatosis |
OMIM:615238 |
Analbuminemia |
|
Osteoporosis, Elevated circulating transferrin concentration, Increased LDL cholesterol concentra... |
OMIM:616000 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cachexia, Abnormal lactate dehydrogenase level, Decr... |
ORPHA:42 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Adams-Oliver Syndrome |
|
Congenital hepatic fibrosis, Failure to thrive, Cirrhosis, Portal hypertension |
ORPHA:974 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Nephronophthisis 3 |
|
Hepatic fibrosis |
OMIM:604387 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:613070 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis |
OMIM:275630 |
Aceruloplasminemia |
|
Abnormal circulating enzyme concentration or activity, Abnormal pancreas morphology, Hepatic fibr... |
ORPHA:48818 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Obesity |
OMIM:620270 |
Dentin Dysplasia With Sclerotic Bones |
|
Cortical sclerosis |
OMIM:125440 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma, Failure to thrive |
OMIM:304790 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Osteoarthritis, Obesity |
ORPHA:2206 |
Gaucher Disease Type 1 |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Osteoarthritis, Cirrhosis, Biliary tract obstruction |
ORPHA:77259 |
3-Methylglutaconic Aciduria, Type V |
|
Microvesicular hepatic steatosis, Failure to thrive, Elevated circulating alanine aminotransferas... |
OMIM:610198 |
Griscelli Syndrome |
|
Splenomegaly, Hepatomegaly, Jaundice, Hepatitis |
ORPHA:381 |
Johanson-Blizzard Syndrome |
|
Hypoproteinemia |
ORPHA:2315 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Hypoproteinemia, Hypocalcemia |
OMIM:235255 |
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism |
|
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... |
OMIM:610199 |
Beta-Thalassemia Major |
|
Hepatomegaly, Failure to thrive in infancy, Hypersplenism, Splenomegaly, Jaundice, Hepatosplenome... |
ORPHA:231214 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatosplenomegaly |
OMIM:619013 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Elbow flexion contracture, Decreased LDL cholestero... |
OMIM:618156 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular sclerosis, Thickened cortex o... |
OMIM:144750 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Failure to thrive, Hepati... |
ORPHA:71 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity |
OMIM:608320 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis |
ORPHA:79085 |
Argininemia |
|
Hepatomegaly, Micronodular cirrhosis, Portal fibrosis, Cholestasis |
OMIM:207800 |
Bardet-Biedl Syndrome 16 |
|
Recurrent otitis media, Obesity |
OMIM:615993 |
Joubert Syndrome 8 |
|
Hepatomegaly, Obesity, Prolonged neonatal jaundice |
OMIM:612291 |
Subaortic Stenosis-Short Stature Syndrome |
|
Biliary tract abnormality, Obesity, Acne |
ORPHA:3191 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Reduced carnitine O-palmitoyltransferase level, Hepa... |
ORPHA:228305 |
Autoinflammation, Immune Dysregulation, And Eosinophilia |
|
Eosinophilic liver infiltration, Atopic dermatitis, Hepatosplenomegaly, Membranous nephropathy, C... |
OMIM:618999 |
Nephronophthisis 11 |
|
Hepatic fibrosis |
OMIM:613550 |
Argininosuccinic Aciduria |
|
Hepatomegaly, Failure to thrive, Hepatic fibrosis, Elevated circulating aspartate aminotransferas... |
OMIM:207900 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Failure to thrive, Cho... |
OMIM:301068 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Osteomyelitis, Maculopapular exanthema... |
ORPHA:781 |
Omenn Syndrome |
|
Hypoproteinemia |
OMIM:603554 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity |
OMIM:300209 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... |
OMIM:277900 |
Isolated Sedoheptulokinase Deficiency |
|
Cholestasis, Cholestatic liver disease, Hepatitis, Portal hypertension |
ORPHA:440713 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alanine aminotransferase concen... |
OMIM:615381 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Failure to thrive, Small for gestational age, Abnormality of the pancreas, Jaundice... |
OMIM:222470 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Splenomega... |
OMIM:276700 |
Farber Disease |
|
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Failure to ... |
ORPHA:333 |
Cystic Fibrosis |
|
Hepatomegaly, Recurrent pneumonia, Biliary cirrhosis, Bronchiectasis, Hepatosplenomegaly, Cirrhos... |
OMIM:219700 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Cachexia, Hyper... |
ORPHA:275761 |
Syndromic Diarrhea |
|
Hepatomegaly, Small for gestational age, Gastritis, Splenomegaly, Abnormality of the liver, Colit... |
ORPHA:84064 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Jaundice, Cirrhosis |
ORPHA:57777 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Hypoproteinemia, Hypocalcemia |
ORPHA:1655 |
Aspergillosis |
|
Sinusitis, Osteomyelitis, Pneumonia, Hematological neoplasm, Keratitis, Bronchiectasis, Hepatitis... |
ORPHA:1163 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:435651 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Recurrent pneumonia, Trunc... |
OMIM:203800 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Hepatomegaly, Pancreatic fibrosis, Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Exocri... |
OMIM:616263 |
Osteopetrosis, Autosomal Recessive 1 |
|
Increased bone mineral density, Osteomyelitis, Craniosynostosis, Osteopetrosis, Hypocalcemia, Pat... |
OMIM:259700 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
ORPHA:369840 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Cirrhosis, Failure to thrive, Hepatic stea... |
OMIM:229600 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Elevated hepatic transaminase, Micronodular cirrhosis |
OMIM:192315 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Obesity |
OMIM:613670 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity |
ORPHA:140941 |
Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Visceral angiomatosis, Cavernous hemangioma, Cholecystitis, Cirrhosis, Chole... |
ORPHA:774 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Hepatic fibrosis |
OMIM:613989 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... |
ORPHA:731 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Myelodysplasia, Hepatic necrosis, Interstitial pneumonitis, Squamous cell carcinoma of the skin, ... |
OMIM:127550 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Overgrowth, Recurrent otitis media |
OMIM:605309 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hepatomegaly, Failure to thrive in infancy, Portal hypertension, Hypersplenism, Splenomegaly, Hep... |
OMIM:613385 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Obesity, Cholestasis |
OMIM:609734 |
11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
Congenital Enterovirus Infection |
|
Skin rash, Myocarditis, Hepatitis, Cholestasis, Hepatic failure, Infectious encephalitis |
ORPHA:292 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic... |
OMIM:608594 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Periportal fibrosis |
OMIM:263210 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Childhood-onset truncal obesity |
OMIM:610156 |
Legionnaires Disease |
|
Pericarditis, Splenomegaly, Jaundice, Myocarditis, Hepatitis, Endocarditis, Infectious encephalit... |
ORPHA:549 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... |
ORPHA:309854 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Colitis, Obesity |
ORPHA:88643 |
Immunodeficiency 61 |
|
Recurrent otitis media, Arthritis, Obesity, Recurrent sinusitis |
OMIM:300310 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Disproportionate tall stature, Failure to thrive, Hepatic steatosis, Pancreatitis, Tall stature |
OMIM:236200 |
Xq27.3Q28 Duplication Syndrome |
|
Truncal obesity, Failure to thrive |
ORPHA:261483 |
Microsporidiosis |
|
Myositis, Sinusitis, Cholangitis, Abnormality of the spleen, Lymphadenitis, Infectious encephalit... |
ORPHA:2552 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Hepatic fibrosis, Failure to thrive, H... |
OMIM:212065 |
Cortisone Reductase Deficiency 2 |
|
Obesity |
OMIM:614662 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Failure to thrive, Cirrhosis, Exocrine pancreatic insufficiency |
OMIM:616539 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Chronic gastritis, Liver abscess, Psoriasiform dermatitis, Cholangitis, Pneumoni... |
ORPHA:183675 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Obesity, Gout, Hepatic steatosis |
ORPHA:412 |
Acrocephalopolydactylous Dysplasia |
|
Pancreatic fibrosis, Hepatomegaly, Hepatic fibrosis, Polysplenia |
OMIM:200995 |
Cortisone Reductase Deficiency 1 |
|
Acne, Obesity |
OMIM:604931 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Hydroxyprolinemia, Os... |
OMIM:239000 |
Bardet-Biedl Syndrome 1 |
|
Biliary tract abnormality, Obesity, Truncal obesity, Abdominal obesity, Hepatic fibrosis |
OMIM:209900 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
Avian Influenza |
|
Elevated hepatic transaminase, Pneumonia, Hepatitis, Conjunctivitis, Increased circulating lactat... |
ORPHA:454836 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Myositis, Psoriasiform dermatitis, Failure to thrive in infancy, E... |
ORPHA:37042 |
Potocki-Lupski Syndrome |
|
Hypocholesterolemia |
OMIM:610883 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Increased bone mineral density, Recurrent fractures |
OMIM:611490 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Keratoconjunctivitis sicca, Hepatic fibrosis, Cirrho... |
ORPHA:14 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Splenomegaly, Cirrhosis, Hepatic... |
OMIM:269700 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Hemangioma, Obesity |
ORPHA:444002 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... |
ORPHA:36913 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Large for gestational age, Seborrheic dermatitis, Microvesicular hepatic steatosis,... |
OMIM:300868 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Perianal abscess, Jaundice, Hepatosplenomegaly, Recurrent pancreatitis, Decre... |
ORPHA:444490 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Obesity |
ORPHA:71529 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
Cryptococcosis |
|
Lymphoid leukemia, Osteomyelitis, Pneumonia, Peritonitis, Neoplasm, Cirrhosis, Prostatitis |
ORPHA:1546 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Increased circulating lactate dehydrogenase... |
ORPHA:99901 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Hepatic fibrosis |
OMIM:224230 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Congenital hepatic fibrosis |
ORPHA:2031 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Small for gestational age, Slender build, Portal hypertension, Cho... |
OMIM:613658 |
Cystic Fibrosis |
|
Elevated hepatic transaminase, Sinusitis, Bronchiectasis, Abnormality of the liver, Cirrhosis, Fa... |
ORPHA:586 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... |
OMIM:208500 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Sinusitis, Skin rash, Acute otitis media, Chronic mucocutaneous candidiasis, Sclerosing cholangit... |
ORPHA:572 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Pyoderma, Conjunctivitis,... |
OMIM:307200 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hepatic fibrosis |
OMIM:614091 |
Joubert Syndrome 37 |
|
Hepatomegaly, Obesity |
OMIM:619185 |
Bardet-Biedl Syndrome 22 |
|
Obesity, Large for gestational age |
OMIM:617119 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Acute hepatic steatosis, Failure to thrive |
OMIM:210200 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Atopic dermatitis, Obesity |
OMIM:606772 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Microvesic... |
OMIM:203700 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis, Hepatic failure |
OMIM:611126 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Failure to thrive, Obesity, Polysplenia, Facial hemangioma |
OMIM:610543 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Aspir... |
OMIM:301072 |
Bacterial Toxic-Shock Syndrome |
|
Myositis, Sinusitis, Fasciitis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... |
ORPHA:36234 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Elevated circulating alkaline phosphatase concentration, Hepatic steatosis |
ORPHA:52430 |
Generalized Pustular Psoriasis |
|
Elevated hepatic transaminase, Overweight, Pustule, Obesity, Uveitis, Cheilitis, Arthritis, Palmo... |
ORPHA:247353 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Gout, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, H... |
ORPHA:90041 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:614924 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis |
OMIM:212138 |
Mehmo Syndrome |
|
Small for gestational age, Obesity |
OMIM:300148 |
Leptin Deficiency Or Dysfunction |
|
Recurrent pneumonia, Obesity |
OMIM:614962 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hepatitis, Decreased liver functi... |
ORPHA:415 |
Arima Syndrome |
|
Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly |
OMIM:243910 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Chronic pan... |
ORPHA:98908 |
Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
Myasthenia Gravis |
|
Rheumatoid arthritis, Myositis, Hepatitis, Hashimoto thyroiditis |
ORPHA:589 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Splenomegaly, Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Splenomegaly, Fulminant hepatitis, Lymphoma, Burkitt lymphoma, Hepatic failure, Inf... |
OMIM:308240 |
Autoimmune Lymphoproliferative Syndrome |
|
Non-Hodgkin lymphoma, Uveitis, Colitis, Thyroid carcinoma, Hepatomegaly, B-cell lymphoma, Hepatit... |
ORPHA:3261 |
Pearson Marrow-Pancreas Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Pancreatic fibrosis, Small for ge... |
OMIM:557000 |
Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Patho... |
ORPHA:29073 |
Trisomy 5P |
|
Obesity |
ORPHA:1742 |
Bardet-Biedl Syndrome 7 |
|
Obesity |
OMIM:615984 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hepatic steatosis |
ORPHA:435660 |
Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Skin rash, Hepatitis |
ORPHA:1334 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Hepatomegaly, Splenomegaly, Lymphoma, Neoplasm, Periodontitis, Cirrhosi... |
ORPHA:1775 |
Ebola Hemorrhagic Fever |
|
Acute pancreatitis, Maculopapular exanthema, Hepatitis |
ORPHA:319218 |
Diastrophic Dysplasia |
|
Joint hyperflexibility, Increased bone mineral density, Camptodactyly of finger, Joint stiffness |
ORPHA:628 |
Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Thymoma, Chronic mucocutaneous c... |
ORPHA:227990 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatic necrosis, Decreased 3-hydroxyacyl-C... |
ORPHA:71212 |
Borjeson-Forssman-Lehmann Syndrome |
|
Obesity |
OMIM:301900 |
Cranioectodermal Dysplasia 3 |
|
Cirrhosis |
OMIM:614099 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Hepatic steatosis, Decreased liver function |
OMIM:614922 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Acne, Pituitary adenoma, Increased body weight, Renal cell carcinoma, Abdominal obesity, Hepatic ... |
ORPHA:189427 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Cholangitis, Microvesicular hepatic steatosis, Cholestasis, Tubulo... |
OMIM:124000 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Osteoporosis, Reduced bone mineral density, ... |
OMIM:614856 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kina... |
ORPHA:96180 |
Alagille Syndrome 1 |
|
Elevated hepatic transaminase, Failure to thrive, Hepatocellular carcinoma, Cholestasis, Reduced ... |
OMIM:118450 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Lipoma, Chronic otitis media, Obesity |
ORPHA:480907 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, H... |
ORPHA:2088 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Increased bo... |
ORPHA:94089 |
Mody |
|
Large for gestational age, Overweight, Hepatocellular adenoma, Obesity, Pancreatic hypoplasia, Ex... |
ORPHA:552 |
Simple Cryoglobulinemia |
|
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, B-cell lymphoma, Chronic... |
ORPHA:91139 |
Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Hepatitis |
ORPHA:584 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Sinusitis, Pneumonia, Atypical or prolonged hepatitis, Thyroiditis, Eczematoid dermatitis, Chroni... |
ORPHA:83471 |
Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Iridocyclitis, Hepatitis, Biliary cirrhosis, Thymoma, Chronic mucocutaneous c... |
ORPHA:227982 |
Bardet-Biedl Syndrome 4 |
|
Obesity |
OMIM:615982 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... |
OMIM:618329 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Delayed patellar ossification, Increased bone mineral density, Abnormal bone ossification |
ORPHA:163649 |
Morm Syndrome |
|
Truncal obesity |
ORPHA:75858 |
Spondyloepiphyseal Dysplasia Tarda |
|
Increased bone mineral density, Osteoarthritis of the distal interphalangeal joint, Abnormally os... |
ORPHA:93284 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Atrophic gastritis, Chronic active hepatitis, Asplenia, Iridocyclitis, Chronic mucocutaneous cand... |
OMIM:240300 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Sclerosis of mi... |
ORPHA:85188 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Accessory spleen, Portal hypertension, Macronodular cirrhosis, Ele... |
OMIM:620005 |
Temple Syndrome |
|
Small for gestational age, Overweight, Obesity, Truncal obesity, Recurrent otitis media |
OMIM:616222 |
Monosomy 13Q34 |
|
Hepatic steatosis, Obesity |
ORPHA:96168 |
Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Glomerulonephritis, Hepatosplenom... |
ORPHA:470 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Increased body weight, El... |
ORPHA:263455 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Hepatic periportal necrosis, Hepatic steatosis, Jaundice |
OMIM:231680 |
19P13.12 Microdeletion Syndrome |
|
Hepatic steatosis, Obesity |
ORPHA:254346 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Meckel Syndrome 14 |
|
Hepatic fibrosis |
OMIM:619879 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Hepatomegaly, Aplasia/Hypoplasia of the pancreas, Abnormal liver parenchyma morphology, Hyperecho... |
ORPHA:456312 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Coarse metaphysea... |
ORPHA:1782 |
Spondyloenchondrodysplasia |
|
Enchondroma, Skin rash, Pneumonia, Hepatitis, Arthritis, Juvenile rheumatoid arthritis |
ORPHA:1855 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Abnormal circulating enzyme conce... |
ORPHA:348 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Hypersplenism, Splenomegaly, Neoplasm of the liver, Decreased liver function, Cirrh... |
ORPHA:77293 |
Mehmo Syndrome |
|
Obesity |
ORPHA:85282 |
Summitt Syndrome |
|
Obesity, Tall stature |
ORPHA:3210 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Atopic dermatitis, Obesity |
ORPHA:397973 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Microvesicular hepatic steatosis, Failure to thrive |
OMIM:616672 |
Aicardi-Goutieres Syndrome 7 |
|
Hepatomegaly, Atrophic gastritis, Skin rash, Chilblains, Pneumonia, Splenomegaly, Hepatitis, Atop... |
OMIM:615846 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Failure to thrive, Diffuse hepatic steatosis, Decreased liver function |
ORPHA:436271 |
Biemond Syndrome Type 2 |
|
Obesity |
ORPHA:141333 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Small for gestational age, Neoplasm, Hep... |
ORPHA:2959 |
Blue Diaper Syndrome |
|
Elevated hepatic transaminase, Increased body weight |
ORPHA:94086 |
Late-Onset Isolated Acth Deficiency |
|
Pituitary adenoma, Hepatitis, Weight loss, Failure to thrive, Hashimoto thyroiditis |
ORPHA:199299 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Obesity |
OMIM:614651 |
Joubert Syndrome 1 |
|
Hepatic fibrosis |
OMIM:213300 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Aromatase Deficiency |
|
Eunuchoid habitus, Hepatic steatosis, Obesity, Tall stature |
ORPHA:91 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Failure to thrive... |
OMIM:613327 |
Chung-Jansen Syndrome |
|
Obesity |
OMIM:617991 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Interface hepatitis, Psoriasiform dermatitis, Enterocolitis, T-cell lymphoma |
OMIM:243150 |
Secondary Intestinal Lymphangiectasia |
|
Constrictive pericarditis, Lymphoma, B-cell lymphoma, Cirrhosis |
ORPHA:90363 |
Relapsing Polychondritis |
|
Episcleritis, Pericarditis, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uveitis, Scle... |
ORPHA:728 |
Mccune-Albright Syndrome |
|
Cutaneous myxoma, Hepatocellular adenoma, Breast carcinoma, Hepatitis, Cholestasis, Pancreatitis |
ORPHA:562 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
Agammaglobulinemia, X-Linked |
|
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Pyoderma, ... |
OMIM:300755 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Carpenter Syndrome |
|
Obesity, Polysplenia |
ORPHA:65759 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Uveitis, Infectious encephalitis |
ORPHA:319251 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Hepatomegaly, Cholangitis, Pancreatic cysts, Congenital hepatic fibrosis, Cholestasis, Hepatosple... |
OMIM:266920 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Nodular regenerative hype... |
ORPHA:404454 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity |
ORPHA:352530 |
Liver Disease, Severe Congenital |
|
Joint laxity, Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circu... |
OMIM:619991 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Hodgkin lymphoma, ... |
OMIM:305000 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Papillary cystadenom... |
ORPHA:93111 |
Pearson Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Small for gestational age, Sple... |
ORPHA:699 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Hepatic steatosis |
ORPHA:445038 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Thyroidi... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Thyroidi... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Thyroidi... |
ORPHA:99226 |
Turner Syndrome |
|
Elevated hepatic transaminase, Failure to thrive in infancy, Biliary cirrhosis, Obesity, Thyroidi... |
ORPHA:881 |
Baralle-Macken Syndrome |
|
Obesity |
OMIM:619255 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Pancreatic fibrosis, Hepatic fibrosis, Hamartoma of tongue |
OMIM:263520 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis |
OMIM:617306 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Recurrent otitis media, Obesity |
ORPHA:254531 |
Bardet-Biedl Syndrome 2 |
|
Obesity |
OMIM:615981 |
Bardet-Biedl Syndrome 8 |
|
Obesity |
OMIM:615985 |
Clark-Baraitser Syndrome |
|
Obesity |
OMIM:617752 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... |
OMIM:261515 |
Mitochondrial Trifunctional Protein Deficiency |
|
Diffuse hepatic steatosis, Failure to thrive in infancy, Chronic hepatic failure, Cholestasis |
ORPHA:746 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic fibrosis, Decreased body weight |
OMIM:615273 |
Xylt1-Cdg |
|
Hepatomegaly, Acne, Truncal obesity |
ORPHA:370930 |
Kawasaki Disease |
|
Pericarditis, Skin rash, Myocarditis, Jaundice, Hepatitis, Cheilitis, Arthritis, Conjunctivitis, ... |
ORPHA:2331 |
Acute Disseminated Encephalomyelitis |
|
Viral hepatitis, Herpes simplex encephalitis, Optic neuritis, Myelitis |
ORPHA:83597 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Elevated circulating alanine aminotransferase concentration, Hepatic steatosi... |
OMIM:617253 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Oropharyngeal squamous cell carcinoma, Inflammatory abnormality of the skin, Eczema, Esophageal c... |
ORPHA:391487 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Cholangitis, Myelodysplasia,... |
ORPHA:3260 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:2233 |
Rafiq Syndrome |
|
Truncal obesity, Obesity |
OMIM:614202 |
48,Xxyy Syndrome |
|
Chronic otitis media, Lymphoma, Obesity, Tall stature |
ORPHA:10 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Thin bony cortex |
ORPHA:85184 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:608836 |
Pierson Syndrome |
|
Hypoproteinemia |
OMIM:609049 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity |
OMIM:618124 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Obesity |
ORPHA:163681 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Retrobulbar optic neuritis, Obesity |
OMIM:619737 |
Wilson-Turner Syndrome |
|
Truncal obesity |
ORPHA:3459 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... |
ORPHA:77297 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity |
ORPHA:2183 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive in infancy, Jaundice, Cholestasis,... |
ORPHA:247598 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Obesity |
ORPHA:177910 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Thic... |
OMIM:127000 |
Gaucher Disease |
|
Hepatomegaly, Osteomyelitis, Splenomegaly, Osteoarthritis, Hepatitis, Cirrhosis |
ORPHA:355 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
Bloom Syndrome |
|
Small for gestational age, Lymphoma, Bronchiectasis, Squamous cell carcinoma, Leukemia, Malar ras... |
OMIM:210900 |
Cranioectodermal Dysplasia 1 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Tubulointerstitial nephritis, Hepatic fib... |
OMIM:218330 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Zygomycosis |
|
Fasciitis, Sinusitis, Pericarditis, Gastritis, Hematological neoplasm, Pustule, Myocarditis, Peri... |
ORPHA:73263 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Facial hyperostosis, Increased bone mineral density, Osteopetrosis, Coarse metaphyseal trabecular... |
ORPHA:2780 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hepatomegaly, Decreased liver function, Increased intramyocellular lipid droplets, Increased hepa... |
OMIM:220110 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis, ... |
OMIM:259720 |
Orofaciodigital Syndrome I |
|
Hamartoma of tongue, Pancreatic cysts, Hepatic fibrosis, Hypothalamic hamartoma, Hepatic cysts |
OMIM:311200 |
Retinitis Pigmentosa |
|
Obesity |
ORPHA:791 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
Alg12-Cdg |
|
Hyponatremia, Hypoalbuminemia, Abnormal bone ossification, Hypocholesterolemia, Camptodactyly |
ORPHA:79324 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... |
OMIM:618476 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Hepatic calcification, Tubulointerstitial nephritis, Reduced carnitine O-palmitoylt... |
ORPHA:228308 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Psoriasiform dermatitis, Hepatitis, Abnormal ductus choledochus morphology, Hashimoto thyroiditis... |
ORPHA:436252 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Increased circulating ferritin concentration, Osteopetrosis |
ORPHA:3240 |
Immunodeficiency 82 With Systemic Inflammation |
|
Osteomyelitis, Skin rash, B-cell lymphoma, Pneumonia, Recurrent skin infections, Gastritis, Splen... |
OMIM:619381 |
Obesity Due To Sim1 Deficiency |
|
Obesity |
ORPHA:369873 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Truncal obesity, Obesity |
OMIM:618363 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Recurrent otitis media, Truncal obesity, Small for gestational age, Obesity |
ORPHA:96184 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Obesity, Tall stature |
OMIM:618089 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Obesity |
ORPHA:254525 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Obesity |
OMIM:604360 |
14Q11.2 Microduplication Syndrome |
|
Obesity |
ORPHA:261229 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Obesity |
OMIM:618443 |
Temple Syndrome |
|
Small for gestational age, Obesity |
ORPHA:254516 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating alkaline phosphatase concentrat... |
OMIM:616026 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Eczema, Facial capillary hemangioma, Splenomegaly, Cholestatic liver disease, Cirrh... |
OMIM:270400 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Failure to thrive, Abnormal circulating enzyme concentration or activity, Hepatocel... |
ORPHA:79259 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Generalized osteosclerosis, Increased susceptibilit... |
ORPHA:763 |
Wagr Syndrome |
|
Obesity |
ORPHA:893 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity |
OMIM:615633 |
Microtriplication 11Q24.1 |
|
Obesity |
ORPHA:289522 |
Atkin-Flaitz Syndrome |
|
Obesity |
ORPHA:1193 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Elevated ... |
OMIM:619573 |
Clark-Baraitser syndrome |
|
Obesity, Tall stature |
OMIM:300602 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity |
ORPHA:411515 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity |
OMIM:618821 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Cachexia, Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Bacteria... |
ORPHA:2072 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Membranoproliferative glomerulonephritis, Elevated c... |
OMIM:619525 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619534 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Obesity |
ORPHA:3085 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased susceptibility to fractures, Sc... |
OMIM:224300 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Obesity |
ORPHA:464282 |
6Q16 Microdeletion Syndrome |
|
Obesity |
ORPHA:171829 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity |
OMIM:618160 |
Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density |
ORPHA:3352 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Obesity |
ORPHA:1035 |
Short-Rib Thoracic Dysplasia 12 |
|
Splenomegaly, Hepatomegaly, Periportal fibrosis, Hamartoma of tongue |
OMIM:269860 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Obesity |
OMIM:615986 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Eczema, Obesity |
ORPHA:464288 |
3-Methylglutaconic Aciduria, Type Viib |
|
Recurrent pneumonia, Hepatic steatosis |
OMIM:616271 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity |
OMIM:619854 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Obesity |
ORPHA:171839 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
13Q12.3 Microdeletion Syndrome |
|
Chronic otitis media, Atopic dermatitis, Failure to thrive, Obesity |
ORPHA:412035 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity |
ORPHA:2928 |
Laurence-Moon Syndrome |
|
Obesity |
OMIM:245800 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Esophagitis |
OMIM:615356 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
Postinfectious Vasculitis |
|
Viral hepatitis, Inflammatory abnormality of the skin, Membranoproliferative glomerulonephritis, ... |
ORPHA:48435 |
Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
Desmosterolosis |
|
Generalized osteosclerosis, Abnormal circulating cholesterol concentration, Arthrogryposis multip... |
OMIM:602398 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Microvesicular hepatic steatosis |
ORPHA:66634 |
Chromosome 2Q37 Deletion Syndrome |
|
Eczema, Obesity |
OMIM:600430 |
Primary Sjögren Syndrome |
|
Myositis, Chronic active hepatitis, Lymphoproliferative disorder, Glomerulonephritis, Lymphocytic... |
ORPHA:289390 |
Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
Morgagni-Stewart-Morel Syndrome |
|
Osteoarthritis, Acne, Obesity |
ORPHA:77296 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Jaundice, Lipid accumulation in ... |
ORPHA:20 |
Werner Syndrome |
|
Increased bone mineral density, Osteoporosis, Joint stiffness |
ORPHA:902 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Shoulder flexion ... |
ORPHA:800 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,... |
ORPHA:79444 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia |
OMIM:241410 |
Pseudopseudohypoparathyroidism |
|
Obesity |
OMIM:612463 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity |
OMIM:613192 |
X-Linked Intellectual Disability, Stevenson Type |
|
Obesity, Tall stature |
ORPHA:85325 |
X-Linked Hypophosphatemia |
|
Craniosynostosis, Generalized osteosclerosis, Limitation of joint mobility, Rickets, Enthesitis, ... |
ORPHA:89936 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Obesity |
ORPHA:2234 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Macrovesicular hepatic steatosis, Nephritis |
OMIM:617303 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Reduced bone mineral density, Hyperostosis frontalis ... |
ORPHA:79443 |
Osteopetrosis, Autosomal Recessive 8 |
|
Osteopetrosis |
OMIM:615085 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Skin rash, Jaundice, Hepatitis, Uveitis, Optic neuritis, Elevated ser... |
ORPHA:509 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Eczema, Obesity |
OMIM:620191 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Obesity |
OMIM:615547 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Splenomegaly, Hepatomegaly, Hepatic steatosis, Pancreatitis |
ORPHA:280365 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Truncal obesity, Pancreatitis |
OMIM:610475 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Obesity |
ORPHA:3077 |
Dysostosis, Stanescu Type |
|
Massively thickened long bone cortices, Increased bone mineral density |
ORPHA:1798 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Abdominal obesity, Small for gestational age |
OMIM:300869 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
Cornelia De Lange Syndrome 5 |
|
Truncal obesity |
OMIM:300882 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Abnormal circulating enzyme concentration or activit... |
ORPHA:17 |
Camurati-Engelmann Disease |
|
Sclerosis of skull base, Cortical thickening of long bone diaphyses, Increased bone mineral densi... |
OMIM:131300 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra... |
OMIM:614946 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Obesity |
OMIM:301013 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Nephroblastoma, Gonadoblastoma, Obesity |
OMIM:194072 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Obesity, Tall stature |
OMIM:618430 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Truncal obesity |
OMIM:300957 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Pancreatitis, Obesity |
OMIM:619471 |
15Q24 Microdeletion Syndrome |
|
Failure to thrive, Small for gestational age, Obesity |
ORPHA:94065 |
Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Nephroblastomatosis |
OMIM:608022 |
Meckel Syndrome |
|
Accessory spleen, Pancreatic fibrosis, Asplenia, Congenital hepatic fibrosis, Pancreatic cysts, C... |
ORPHA:564 |
Acute Liver Failure |
|
Elevated hepatic transaminase, Skin rash, Jaundice, Hepatitis, Hepatic necrosis, Hepatocellular n... |
ORPHA:90062 |
Desmosterolosis |
|
Increased bone mineral density, Osteopetrosis |
ORPHA:35107 |
Megalencephaly |
|
Truncal obesity |
ORPHA:2477 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis |
OMIM:151660 |
Raine Syndrome |
|
Arthrogryposis multiplex congenita, Increased bone mineral density, Subperiosteal bone formation,... |
OMIM:259775 |
Congenital Myopathy 9A |
|
Obesity |
OMIM:618822 |
Pseudohypoparathyroidism, Type Ib |
|
Obesity |
OMIM:603233 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Obesity |
OMIM:619056 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity |
OMIM:601794 |
Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Obesity, Hepatosplenomegaly, Cholecystitis, Recurrent otitis media, Cholelithiasis |
OMIM:301066 |
Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
Laron Syndrome |
|
Truncal obesity, Osteoarthritis |
ORPHA:633 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:363741 |
Tatton-Brown-Rahman Syndrome |
|
Myeloid leukemia, Neuroendocrine neoplasm, Proportionate tall stature, Obesity |
ORPHA:404443 |
Body Mass Index Quantitative Trait Locus 19 |
|
Obesity |
OMIM:617885 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Obesity |
OMIM:610628 |
Luscan-Lumish Syndrome |
|
Recurrent otitis media, Overgrowth, Obesity |
OMIM:616831 |
X-Linked Intellectual Disability, Hedera Type |
|
Obesity |
ORPHA:93952 |
Alg9-Cdg |
|
Hepatomegaly, Periportal fibrosis, Hepatic cysts |
ORPHA:79328 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Obesity |
OMIM:614613 |
Adiposis Dolorosa |
|
Arthritis, Recurrent skin infections, Obesity |
ORPHA:36397 |
Urban-Rogers-Meyer Syndrome |
|
Obesity |
ORPHA:3409 |
Leptin Receptor Deficiency |
|
Obesity |
OMIM:614963 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density, Hyperoxaluria |
OMIM:259900 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia |
OMIM:244450 |
Smith-Magenis Syndrome |
|
Chronic otitis media, Failure to thrive in infancy, Obesity |
ORPHA:819 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Overgrowth, Obesity |
OMIM:620250 |
Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis |
ORPHA:2323 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Obesity |
ORPHA:2180 |
Occipital Horn Syndrome |
|
Jaundice, Hepatitis, Cholestasis, Esophagitis, Exostoses |
ORPHA:198 |
Radio-Tartaglia Syndrome |
|
Hemangioma, Obesity |
OMIM:619312 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Johanson-Blizzard Syndrome |
|
Hepatomegaly, Failure to thrive, Small for gestational age, Elevated circulating aspartate aminot... |
OMIM:243800 |
Juvenile Polyposis Syndrome |
|
Hypoproteinemia |
ORPHA:2929 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Microvesicular hepatic steatosis, Hepatosplenomegaly, Hepatocellular necrosis, Fail... |
OMIM:618278 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis |
ORPHA:33364 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Cranial hyperostosis, Limitation of joint mobility, Joint hyperfl... |
ORPHA:2658 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Obesity |
OMIM:300055 |
Otopalatodigital Syndrome Type 2 |
|
Increased bone mineral density, Camptodactyly of finger, Tarsal synostosis, Carpal synostosis, Ab... |
ORPHA:90652 |
Poems Syndrome |
|
Sclerosis of hand bone, Sclerosis of skull base, Sclerosis of foot bone |
ORPHA:2905 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity |
OMIM:300354 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Ring Chromosome Y Syndrome |
|
Gonadoblastoma, Obesity |
ORPHA:261529 |
Bloom Syndrome |
|
Acute myeloid leukemia, Malignant genitourinary tract tumor, Small for gestational age, Pneumonia... |
ORPHA:125 |
Carpenter Syndrome 1 |
|
Obesity, Polysplenia |
OMIM:201000 |
Distal 16P11.2 Microdeletion Syndrome |
|
Obesity |
ORPHA:261222 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Abdominal obesity, Hepatic steatosis |
OMIM:619321 |
Desbuquois Dysplasia 1 |
|
Osteoarthritis, Obesity |
OMIM:251450 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Momo Syndrome |
|
Overgrowth, Obesity, Tall stature, Large for gestational age |
ORPHA:2563 |
Carney Complex |
|
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... |
ORPHA:1359 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Obesity, Decreased body weight |
ORPHA:589821 |
Pycnodysostosis |
|
Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand |
OMIM:265800 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Truncal obesity |
ORPHA:3041 |
Müllerian Aplasia And Hyperandrogenism |
|
Acne, Obesity |
ORPHA:247768 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Large for gestational age, Adrenocortical carcino... |
ORPHA:116 |
Erdheim-Chester Disease |
|
Xanthelasma, Increased bone mineral density, Osteomyelitis, Osteolysis |
ORPHA:35687 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Recurrent otitis media, Obesity |
OMIM:619680 |
Pseudopseudohypoparathyroidism |
|
Obesity |
ORPHA:79445 |
48,Xxxy Syndrome |
|
Chronic otitis media, Obesity, Tall stature |
ORPHA:96263 |
Bardet-Biedl Syndrome 6 |
|
Obesity |
OMIM:605231 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hepatic steatosis |
OMIM:619934 |
Perrault Syndrome 4 |
|
Disproportionate tall stature, Obesity |
OMIM:615300 |
12Q14 Microdeletion Syndrome |
|
Osteopoikilosis |
ORPHA:94063 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Obesity |
OMIM:615418 |
Alström Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Glomerulonephritis, Portal hypertension, Splenomegal... |
ORPHA:64 |
Dubowitz Syndrome |
|
Hypocholesterolemia |
OMIM:223370 |
Man1B1-Cdg |
|
Truncal obesity |
ORPHA:397941 |
2Q37 Microdeletion Syndrome |
|
Nephroblastoma, Eczema, Obesity |
ORPHA:1001 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Truncal obesity, Failure to thrive, Small for gestational age |
ORPHA:73272 |
Pde4D Haploinsufficiency Syndrome |
|
Obesity |
ORPHA:439822 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Splenomegaly, Truncal obesity, Failure to thrive, Pancreatitis |
OMIM:222700 |
Xp22.13P22.2 Duplication Syndrome |
|
Truncal obesity |
ORPHA:284180 |
Proprotein Convertase 1/3 Deficiency |
|
Obesity |
OMIM:600955 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Pituitary Adenoma 4, Acth-Secreting |
|
Pituitary adenoma, Obesity, Abdominal obesity |
OMIM:219090 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Obesity |
ORPHA:174 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Elevated hepatic transaminase, Jaundice, Obesity |
OMIM:614231 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Abdominal obesity, Increased body weight |
OMIM:615954 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Increased bone mineral density, Hypertriglyceridemia, Limitation of joint... |
ORPHA:79474 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Failure to thrive in infancy, Pituitary adenoma, Biliary atresia, O... |
ORPHA:96149 |
Chops Syndrome |
|
Splenomegaly, Obesity, Aspiration pneumonia |
OMIM:616368 |
Momo Syndrome |
|
Overgrowth, Obesity |
OMIM:157980 |
Mosaic Trisomy 9 |
|
Asplenia, Abnormal liver lobulation |
ORPHA:99776 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hepatic arteriovenous malformation, Cirrhosis |
OMIM:600376 |
Ataxia-Oculomotor Apraxia 4 |
|
Obesity |
OMIM:616267 |
Bardet-Biedl Syndrome 17 |
|
Obesity |
OMIM:615994 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Obesity |
ORPHA:98855 |
Rabin-Pappas Syndrome |
|
Overgrowth, Obesity, Failure to thrive in infancy |
OMIM:620155 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Elevated hepatic transaminase, Osteomyelitis, Overweight, Jaundice, Neurofibroma, Obesity, Otitis... |
OMIM:619475 |
Down Syndrome |
|
Obesity, Acute megakaryocytic leukemia |
ORPHA:870 |
Angelman Syndrome Due To A Point Mutation |
|
Obesity |
ORPHA:411511 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Disproportionate tall stature, Abdominal obesity |
OMIM:301039 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Obesity |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Obesity |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Obesity |
ORPHA:98853 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Obesity, Cachexia |
ORPHA:813 |
Insulin-Resistance Syndrome Type B |
|
Skin rash, Abnormality of body weight, Pneumonia, Osteoarthritis, Lymphoma, Increased body weight... |
ORPHA:2298 |
Bdv Syndrome |
|
Obesity |
OMIM:619326 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
Wagro Syndrome |
|
Nephroblastoma, Multiple exostoses, Obesity |
OMIM:612469 |
Den Hoed-De Boer-Voisin Syndrome |
|
Overweight, Obesity, Decreased body weight |
OMIM:619229 |
1P36 Deletion Syndrome |
|
Abnormality of the spleen, Annular pancreas, Obesity, Abnormality of the liver, Neuroblastoma, Fa... |
ORPHA:1606 |
Pseudohypoparathyroidism, Type Ic |
|
Obesity |
OMIM:612462 |
White-Sutton Syndrome |
|
Failure to thrive, Obesity |
OMIM:616364 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Truncal obesity, Neoplasm |
OMIM:219080 |
Obesity Due To Congenital Leptin Deficiency |
|
Obesity |
ORPHA:66628 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Maculopapular exanthema, Skin rash, Myocarditis, Fulminant hepatit... |
ORPHA:319213 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Recurrent pneumonia, Obesity |
OMIM:618493 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity |
OMIM:618395 |
Pseudohypoparathyroidism, Type Ia |
|
Obesity |
OMIM:103580 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Obesity |
ORPHA:179494 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis, Hypocalcemic seizures |
OMIM:612301 |
Peripartum Cardiomyopathy |
|
Myocarditis, Obesity |
ORPHA:563 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity |
ORPHA:3224 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Failure to thrive, Obesity |
ORPHA:261197 |
Sarcoidosis |
|
Hepatomegaly, Maculopapular exanthema, Portal hypertension, Erythema nodosum, Bronchiectasis, Uve... |
ORPHA:797 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Failure to thrive, Obesity |
ORPHA:96147 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Obesity |
ORPHA:251004 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity |
OMIM:608624 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints |
ORPHA:50945 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Obesity |
ORPHA:398079 |
Angelman Syndrome |
|
Obesity |
OMIM:105830 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Hyperoxaluria, Recurrent fractures |
ORPHA:416 |
Narcolepsy 7 |
|
Obesity |
OMIM:614250 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Obesity |
ORPHA:98794 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Obesity |
OMIM:618620 |
Achondroplasia |
|
Obesity |
ORPHA:15 |
Borjeson-Forssman-Lehmann Syndrome |
|
Truncal obesity |
ORPHA:127 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Obesity |
OMIM:617296 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hepatic arteriovenous malformation, Cirrhosis |
OMIM:187300 |
X-Linked Intellectual Disability, Cabezas Type |
|
Obesity, Cachexia |
ORPHA:85293 |
Kleefstra Syndrome 1 |
|
Obesity |
OMIM:610253 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Osteopetrosis, Hypocalcemia,... |
ORPHA:667 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Weight loss |
ORPHA:251071 |
Kleefstra Syndrome |
|
Chronic otitis media, Obesity |
ORPHA:261494 |
Insulin-Like Growth Factor I, Resistance To |
|
Truncal obesity, Decreased body weight |
OMIM:270450 |
Diamond-Blackfan Anemia 21 |
|
Obesity, Osteosarcoma |
OMIM:620072 |
Cohen Syndrome |
|
Small for gestational age, Childhood-onset truncal obesity |
OMIM:216550 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Delayed pubic bone ossification, Increased susceptibility to frac... |
OMIM:119600 |
Digeorge Syndrome |
|
Acne, Seborrheic dermatitis, Splenomegaly, Recurrent pneumonia, Obesity, Recurrent sinusitis, Rec... |
OMIM:188400 |
Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Hypocalcemia, Recurrent fractures, Elevated circulating creatine kinase concentration |
ORPHA:2785 |
Septo-Optic Dysplasia Spectrum |
|
Obesity |
ORPHA:3157 |
Williams Syndrome |
|
Osteopenia, Joint laxity, Increased bone mineral density, Abnormal circulating lipid concentratio... |
ORPHA:904 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
Prader-Willi Syndrome |
|
Abdominal obesity, Failure to thrive in infancy, Obesity |
OMIM:176270 |
Angelman Syndrome |
|
Obesity |
ORPHA:72 |
Cohen Syndrome |
|
Failure to thrive in infancy, Obesity |
ORPHA:193 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Obesity |
ORPHA:2235 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis |
OMIM:619127 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Obesity |
ORPHA:2822 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic adenocarcinoma, Acne, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplas... |
ORPHA:99889 |
3Q29 Microduplication Syndrome |
|
Obesity |
ORPHA:251038 |
22Q11.2 Deletion Syndrome |
|
Acne, Seborrheic dermatitis, Splenomegaly, Obesity, Arthritis, Chronic otitis media, Cholelithias... |
ORPHA:567 |
White-Sutton Syndrome |
|
Obesity |
ORPHA:468678 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Failure to thrive, Small for gestational age, Obesity |
ORPHA:98754 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Low alkaline phosphatase, Obesity |
ORPHA:369837 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Recurrent otitis media, Obesity |
OMIM:250420 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Failure to thrive, Small for gestational age, Obesity |
ORPHA:98793 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Failure to thrive, Small for gestational age, Obesity |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Failure to thrive, Small for gestational age, Obesity |
ORPHA:177901 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Ganglioneuroblastoma, Obesity, Infectious encephalitis, Ganglioneu... |
ORPHA:293987 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Failure to thrive, Eczema, Obesity, Seborrheic dermatitis |
ORPHA:369950 |
Ogden Syndrome |
|
Eczema, Microvesicular hepatic steatosis, Jaundice, Macrovesicular hepatic steatosis, Recurrent o... |
OMIM:300855 |
Webb-Dattani Syndrome |
|
Obesity |
OMIM:615926 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Truncal obesity, Abdominal obesity |
OMIM:615812 |
7Q11.23 Microduplication Syndrome |
|
Chronic otitis media, Obesity |
ORPHA:96121 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity |
ORPHA:319675 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Pericarditis, Abnormal liver parenchyma morphology, Hepatic fibros... |
ORPHA:79318 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Abdominal obesity, Failure to thrive, Increased body weight |
ORPHA:398069 |
Sheehan Syndrome |
|
Obesity, Hashimoto thyroiditis |
ORPHA:91355 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Microvesicular hepatic steatosis, Increased hepatocellular lipid droplets, Failure to thrive, Sma... |
OMIM:220111 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Portal hypertension, Atopic dermatitis, Cholestasis, Hepatosplenomegaly, Recurrent otitis media, ... |
OMIM:619503 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Obesity, Inflammation of the large intestine, Neoplasm, Myeloproliferative disorder |
ORPHA:70591 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Congenital hepatic fibrosis |
ORPHA:93271 |
Thyrotoxic Periodic Paralysis |
|
Obesity, Increased intramyocellular lipid droplets, Weight loss |
ORPHA:79102 |
Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
Kallmann Syndrome |
|
Obesity |
ORPHA:478 |
Prader-Willi Syndrome Due To Translocation |
|
Obesity |
ORPHA:177907 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Truncal obesity, Obesity |
ORPHA:466950 |
Sclerosteosis 1 |
|
Facial palsy secondary to cranial hyperostosis, Cortically dense long tubular bones, Sclerotic sc... |
OMIM:269500 |
Desbuquois Dysplasia 2 |
|
Truncal obesity |
OMIM:615777 |
Prader-Willi Syndrome |
|
Abdominal obesity, Failure to thrive, Periodontitis, Erysipelas |
ORPHA:739 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Truncal obesity |
OMIM:616541 |
Meningioma |
|
Neoplasm of the anterior pituitary, Neurofibroma, Obesity, Neoplasm of the skin, Spinal meningiom... |
ORPHA:2495 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Obesity |
OMIM:616078 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Truncal obesity |
OMIM:610489 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Truncal obesity |
ORPHA:2637 |
Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent skin infections, Slender build, Synovitis, Recurrent otitis media, Failure to thrive, H... |
ORPHA:3455 |
Ulnar-Mammary Syndrome |
|
Obesity |
ORPHA:3138 |
Helsmoortel-Van Der Aa Syndrome |
|
Truncal obesity, Failure to thrive, Obesity |
OMIM:615873 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Periodontitis, Obesity |
OMIM:619269 |
Craniopharyngioma |
|
Obesity, Neoplasm of the anterior pituitary |
ORPHA:54595 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Small for gestational age, Papillary cystadenoma of the epididymis, Truncal obe... |
OMIM:180849 |
White-Kernohan Syndrome |
|
Recurrent otitis media, Obesity |
OMIM:619426 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity |
OMIM:614947 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Pneumonia, Pilomatrixoma, Spinal cord tumor, Obesity, Neoplasm, Otitis media, Failure to thrive, ... |
ORPHA:353281 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Obesity |
ORPHA:466943 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Truncal obesity |
OMIM:210720 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Recurrent otitis media, Cervix cancer, Gonadoblastoma, Obesity |
ORPHA:1772 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Obesity |
OMIM:618653 |
Kabuki Syndrome |
|
Failure to thrive, Obesity |
ORPHA:2322 |
Cushing Disease |
|
Acne, Pituitary corticotropic cell adenoma, Increased body weight, Recurrent cutaneous fungal inf... |
ORPHA:96253 |
17Q24.2 Microdeletion Syndrome |
|
Recurrent otitis media, Truncal obesity, Failure to thrive in infancy |
ORPHA:529962 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Obesity, Aspiration pneumonia |
ORPHA:444077 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sclerosis of skull base, Increased density of long bones, Thickened cortex of long bones |
OMIM:269150 |
Myhre Syndrome |
|
Small for gestational age, Obesity |
OMIM:139210 |
Xq21 Microdeletion Syndrome |
|
Obesity |
ORPHA:1435 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Failure to thrive, Eczema, Obesity |
OMIM:617157 |
Homozygous Familial Hypercholesterolemia |
|
Hepatic steatosis |
ORPHA:391665 |
1P21.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:293948 |
Adnp Syndrome |
|
Truncal obesity |
ORPHA:404448 |
Monosomy 22Q13.3 |
|
Recurrent pyelonephritis, Recurrent skin infections, Obesity |
ORPHA:48652 |
Williams-Beuren Syndrome |
|
Recurrent otitis media, Failure to thrive in infancy, Obesity, Portal hypertension |
OMIM:194050 |
6Q Terminal Deletion Syndrome |
|
Failure to thrive, Obesity |
ORPHA:75857 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Pneumonia, Pilomatrixoma, Obesity, Otitis media, Failure to thrive, Meningioma |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Pneumonia, Pilomatrixoma, Obesity, Otitis media, Failure to thrive, Meningioma |
ORPHA:353277 |
Tako-Tsubo Cardiomyopathy |
|
Obesity |
ORPHA:66529 |
Witteveen-Kolk Syndrome |
|
Eczema, Small for gestational age, Obesity |
OMIM:613406 |
Carpenter Syndrome 2 |
|
Obesity |
OMIM:614976 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Obesity |
OMIM:607872 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncal obesity, Failure to thrive |
OMIM:612474 |
Ulnar-Mammary Syndrome |
|
Obesity |
OMIM:181450 |
Cornelia De Lange Syndrome |
|
Truncal obesity, Failure to thrive, Blepharitis |
ORPHA:199 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Obesity |
OMIM:309580 |
Pallister-Killian Syndrome |
|
Obesity |
OMIM:601803 |
Primrose Syndrome |
|
Truncal obesity |
OMIM:259050 |
Spastic Paraplegia 89, Autosomal Recessive |
|
Ataxia |
OMIM:620379 |