Gallbladder Disease 4 |
|
Cholelithiasis |
OMIM:611465 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Maturity-Onset Diabetes Of The Young, Type 7 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:610508 |
Maturity-Onset Diabetes Of The Young, Type 4 |
|
Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:606392 |
Type 1 Diabetes Mellitus 15 |
|
Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Protoporphyria, Erythropoietic, X-Linked |
|
Elevated hepatic transaminase, Cholelithiasis |
OMIM:300752 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Gallbladder Disease 1 |
|
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... |
OMIM:600803 |
Maturity-Onset Diabetes Of The Young, Type 2 |
|
Maturity-onset diabetes of the young |
OMIM:125851 |
Type 1 Diabetes Mellitus 2 |
|
Type I diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 20 |
|
Type I diabetes mellitus |
OMIM:612520 |
Maturity-Onset Diabetes Of The Young, Type 9 |
|
Maturity-onset diabetes of the young |
OMIM:612225 |
Maturity-Onset Diabetes Of The Young, Type 6 |
|
Maturity-onset diabetes of the young |
OMIM:606394 |
Type 1 Diabetes Mellitus 6 |
|
Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
|
Diabetes mellitus |
OMIM:601942 |
Cholangiocarcinoma, Susceptibility To |
|
Cholangiocarcinoma |
OMIM:615619 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Hyperbiliverdinemia |
|
Cholelithiasis, Decreased liver function, Cholestasis |
OMIM:614156 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Anemia, Congenital Dyserythropoietic, Type Ii |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:224100 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
|
Hepatomegaly, Jaundice, Intrahepatic cholestasis, Cholelithiasis |
OMIM:605479 |
Protoporphyria, Erythropoietic, 1 |
|
Cholelithiasis, Hepatic failure, Hypertriglyceridemia |
OMIM:177000 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Pancreatic Colipase Deficiency |
|
Cholelithiasis, Steatorrhea, Exocrine pancreatic insufficiency |
ORPHA:309108 |
Low Phospholipid-Associated Cholelithiasis |
|
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Intrahepatic cho... |
ORPHA:69663 |
Benign Recurrent Intrahepatic Cholestasis |
|
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... |
ORPHA:65682 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:256450 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Biliary Atresia, Extrahepatic |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Autosomal Erythropoietic Protoporphyria |
|
Cholelithiasis, Decreased liver function, Cirrhosis |
ORPHA:79278 |
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Pigment gallstones, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:613470 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Alpha-Thalassemia |
|
Hypersplenism, Splenomegaly, Jaundice, Cholelithiasis |
ORPHA:846 |
Dubin-Johnson Syndrome |
|
Jaundice, Biliary tract abnormality |
OMIM:237500 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:232700 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Splenomegaly, Jaundice, Cholelithiasis, Cholecystitis |
OMIM:235700 |
Gcgr-Related Hyperglucagonemia |
|
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology |
ORPHA:438274 |
Nephronophthisis 19 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Obesity |
OMIM:608320 |
Spherocytosis, Type 1 |
|
Splenomegaly, Jaundice, Cholelithiasis |
OMIM:182900 |
Hepatic Venoocclusive Disease With Immunodeficiency |
|
Endocardial fibrosis, Absence of lymph node germinal center |
OMIM:235550 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... |
OMIM:211600 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Sclerosing Cholangitis, Neonatal |
|
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility, Abnormal lymph node morphology |
OMIM:136580 |
Congenital Bile Acid Synthesis Defect Type 3 |
|
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... |
ORPHA:79302 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:606762 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... |
ORPHA:567983 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Ma... |
ORPHA:209902 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Bile Acid Synthesis Defect, Congenital, 3 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... |
OMIM:613812 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Cholelithiasis |
OMIM:266200 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Glycogen Storage Disease Ixc |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Bile duct prolif... |
OMIM:613027 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Mirizzi Syndrome |
|
Elevated hepatic transaminase, Pancreatitis, Jaundice, Cholesterol gallstones, Cholelithiasis, Ab... |
ORPHA:521219 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Beta-Thalassemia |
|
Splenomegaly, Hepatomegaly, Cholelithiasis, Hepatitis |
ORPHA:848 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
OMIM:615703 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Cholelithiasis |
OMIM:194380 |
Ketamine-Induced Biliary Dilatation |
|
Abnormal biliary tract morphology |
ORPHA:293807 |
Caroli Disease |
|
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... |
ORPHA:53035 |
Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Cholestatic liver disease, Cholelithiasis |
ORPHA:79095 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Generalized lipodystrop... |
OMIM:612526 |
Meckel Syndrome, Type 3 |
|
Hepatomegaly, Bile duct proliferation, Hepatic fibrosis, Malformation of the hepatic ductal plate |
OMIM:607361 |
Cholangiocarcinoma |
|
Biliary tract neoplasm, Jaundice, Acholic stools |
ORPHA:70567 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:71529 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hyp... |
ORPHA:276580 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia |
OMIM:618406 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Glycogen Storage Disease Vii |
|
Cholelithiasis, Jaundice |
OMIM:232800 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Testicular atrophy |
OMIM:160900 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia,... |
ORPHA:276608 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperglycemia, Hyperinsulinemia |
ORPHA:329249 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Cholelithiasis, Hepatosplenomegaly |
ORPHA:3166 |
Crigler-Najjar Syndrome Type 1 |
|
Abnormality of the liver, Biliary tract abnormality, Prolonged neonatal jaundice |
ORPHA:79234 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia |
OMIM:620195 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenom... |
ORPHA:231222 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Glucocortocoid-insensitive primary hyperaldosteronism, Cholelithiasis |
ORPHA:171876 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Male hypogonadism, Hypergonadotropic hypogonadism, Hyperglycemia |
OMIM:307500 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Isolated Biliary Atresia |
|
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholest... |
ORPHA:30391 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Fasting hypoglycemia, Hyperins... |
ORPHA:276575 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, B... |
OMIM:607626 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Mediastinal lymphadenopathy, Follicular hyperplasia |
ORPHA:60026 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
|
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Cen... |
OMIM:619326 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Extrahepatic biliary duct atresia, Annular pancreas, Hypoplasia of the gal... |
OMIM:601346 |
Congenital Bile Acid Synthesis Defect Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, C... |
ORPHA:79301 |
Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Increased serum leptin |
OMIM:617885 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Precocious puberty, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic... |
OMIM:262190 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
North American Indian Childhood Cirrhosis |
|
Biliary cirrhosis, Portal hypertension, Prolonged neonatal jaundice |
OMIM:604901 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Diabetes mellitus, Delayed thelarche, Delayed puberty |
OMIM:616033 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... |
OMIM:611881 |
Squamous Cell Carcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99977 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia |
OMIM:240900 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... |
ORPHA:71526 |
Sickle Cell Disease |
|
Hepatomegaly, Splenomegaly, Jaundice, Splenic infarction, Cholelithiasis |
OMIM:603903 |
Ppoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97278 |
Lambert Syndrome |
|
Jaundice, Intrahepatic biliary atresia |
OMIM:245550 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Elevated hepatic transaminase, Cholelithiasis, Hepatic failure |
OMIM:614886 |
Sickle Cell Anemia |
|
Pigment gallstones, Abnormality of the spleen, Cholestasis |
ORPHA:232 |
Plin1-Related Familial Partial Lipodystrophy |
|
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Abnormal circulating hormone co... |
ORPHA:280356 |
Hereditary Progressive Mucinous Histiocytosis |
|
Lymphadenopathy |
ORPHA:158025 |
Hereditary Elliptocytosis |
|
Splenomegaly, Jaundice, Cholelithiasis, Prolonged neonatal jaundice |
ORPHA:288 |
Cimdag Syndrome |
|
Microvesicular hepatic steatosis, Cholelithiasis, Hepatomegaly |
OMIM:619273 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly, Congenital hypothyroidism |
ORPHA:88643 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia |
ORPHA:369873 |
Mantle Cell Lymphoma |
|
Splenomegaly, Lymphadenopathy |
ORPHA:52416 |
Reticuloendotheliosis, X-Linked |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:312500 |
Biliary Cirrhosis, Primary, 1 |
|
Biliary cirrhosis |
OMIM:109720 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Meckel Syndrome, Type 5 |
|
Bile duct proliferation |
OMIM:611561 |
Hereditary Spherocytosis |
|
Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis |
ORPHA:822 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Triosephosphate Isomerase Deficiency |
|
Splenomegaly, Jaundice, Cholecystitis, Prolonged neonatal jaundice, Cholelithiasis |
OMIM:615512 |
Mitchell-Riley Syndrome |
|
Absent gallbladder, Biliary atresia, Cholestasis, Acholic stools, Annular pancreas, Pancreatic hy... |
OMIM:615710 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Transient Neonatal Diabetes Mellitus |
|
Maternal diabetes, Maturity-onset diabetes of the young, Transient neonatal diabetes mellitus, Di... |
ORPHA:99886 |
Primary Sclerosing Cholangitis |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Portal hy... |
ORPHA:171 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Increased circulati... |
OMIM:235200 |
Grfoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97261 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis |
OMIM:618775 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Typ... |
OMIM:604367 |
Mody |
|
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Abnormal circulating i... |
ORPHA:552 |
Dehydrated Hereditary Stomatocytosis |
|
Portal vein thrombosis, Cholelithiasis, Splenomegaly, Intermittent jaundice |
ORPHA:3202 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Hyperlipidemia, Biliary tract abnormal... |
ORPHA:1414 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Asplenia, Cholelithiasis, Hypoparathyroidism, Chronic active hepatitis |
OMIM:240300 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... |
OMIM:208540 |
Meckel Syndrome, Type 6 |
|
Absent gallbladder, Cystic liver disease, Bile duct proliferation, Hepatic fibrosis, Hepatic cysts |
OMIM:612284 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... |
ORPHA:52901 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, Hyperinsulinemic hypoglycem... |
ORPHA:276556 |
Laryngeal Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess, Elevated carcinoembryo... |
ORPHA:100083 |
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome |
|
Elevated hepatic transaminase, Granulomatous cholangitis, Cholestasis, Abnormal intrahepatic bile... |
ORPHA:562639 |
Immunodeficiency 75 With Lymphoproliferation |
|
Follicular hyperplasia, Lymphadenopathy, Hepatosplenomegaly |
OMIM:619126 |
Meckel Syndrome, Type 7 |
|
Portal hypertension, Pancreatic cysts, Biliary cirrhosis, Cholestasis, Hepatosplenomegaly, Bile d... |
OMIM:267010 |
Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... |
ORPHA:481 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Multiple pancreatic bet... |
ORPHA:79644 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Xanthelasma |
OMIM:213700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Cryptorchidism, Cholelithiasis, Decreased testicular size |
OMIM:300534 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Retinitis Pigmentosa |
|
Hypogonadism, Hyperinsulinemia, Type II diabetes mellitus |
ORPHA:791 |
Hereditary Hemorrhagic Telangiectasia |
|
Portal hypertension, Cholecystitis, Cirrhosis, Cholelithiasis, Hepatic failure |
ORPHA:774 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Overweight, Flexion contracture, Obesity, Trunca... |
OMIM:616222 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Decreased fertility, Testicular atrophy, Elevated circulating creatine kinase concentration |
OMIM:313200 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
Metachromatic Leukodystrophy |
|
Gallbladder dysfunction, Cholecystitis |
OMIM:250100 |
Attrv30M Amyloidosis |
|
Cardiomegaly, Cardiomyopathy, Impotence, Nephropathy, Abnormal renal physiology |
ORPHA:85447 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Caroli Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Port... |
ORPHA:480520 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Jaundice, Abnormality of the liver, Biliary tract abnormality |
ORPHA:234 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Type II diabetes mellitus |
ORPHA:3085 |
Kerion Celsi |
|
Lymphadenopathy |
ORPHA:499 |
Granulomatous Slack Skin |
|
Nephrocalcinosis, Acute kidney injury, Hypercalcemia, Abnormal lymph node morphology |
ORPHA:33111 |
Isolated Splenogonadal Fusion |
|
Abnormal penis morphology, Unilateral cryptorchidism, Elevated circulating alpha-fetoprotein conc... |
ORPHA:457083 |
Immunodeficiency 104 |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:608971 |
Meckel Syndrome, Type 2 |
|
Bile duct proliferation |
OMIM:603194 |
Budd-Chiari Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Splenome... |
ORPHA:131 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Obesity |
ORPHA:254531 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Somatostatinoma |
|
Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah... |
ORPHA:97283 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Trichohepatoneurodevelopmental Syndrome |
|
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Decreased liver function, Hypoplastic nipples... |
OMIM:618268 |
Acth Deficiency, Isolated |
|
Cholestasis, Jaundice, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency |
OMIM:201400 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Joubert Syndrome 6 |
|
Bile duct proliferation, Hepatic fibrosis |
OMIM:610688 |
Retinitis Pigmentosa 89 |
|
Micronodular cirrhosis, Hepatic fibrosis, Intrahepatic bile duct dilatation, Hepatosplenomegaly |
OMIM:618955 |
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24 |
|
Biliary atresia |
ORPHA:565899 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Maturity-Onset Diabetes Of The Young, Type 14 |
|
Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:616511 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... |
ORPHA:85450 |
Porphyria, Congenital Erythropoietic |
|
Splenomegaly, Hepatomegaly, Jaundice, Cholelithiasis |
OMIM:263700 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Hypersplenism, Splenomegaly, Hyperlipidemia, Neoplasm of the ... |
ORPHA:77293 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Adipose tissue loss, Hypercholesterolemia, Failure to thrive... |
ORPHA:528 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Cholelithiasis, Cholecystitis, Hepatosplenomegaly |
OMIM:301066 |
Adenocarcinoma Of The Esophagus |
|
Lymphadenopathy |
ORPHA:99976 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Meckel Syndrome, Type 4 |
|
Bile duct proliferation |
OMIM:611134 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Kimura Disease |
|
Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia |
ORPHA:482 |
Insulin-Resistance Syndrome Type B |
|
Abnormal circulating leptin concentration, Insulin resistance, Fasting hyperinsulinemia, Insulin-... |
ORPHA:2298 |
Burkitt Lymphoma |
|
Abnormality of the spleen, Abnormality of the ovary, Hyperuricemia, Abnormal lymph node morphology |
ORPHA:543 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Glycosuria, Hyperinsul... |
ORPHA:263455 |
Galactokinase Deficiency |
|
Small for gestational age, Increased level of galactitol in plasma, Hypergalactosemia, Hyperchole... |
ORPHA:79237 |
Gallbladder Neuroendocrine Tumor |
|
Biliary tract neoplasm, Extrahepatic cholestasis, Intermittent jaundice, Cholecystitis, Biliary t... |
ORPHA:100086 |
Autoinflammation With Episodic Fever And Lymphadenopathy |
|
Splenomegaly, Hepatomegaly, Recurrent tonsillitis, Lymphadenopathy |
OMIM:618852 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... |
OMIM:603552 |
Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:308700 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Abnormal circulating insulin concentration, Hypoglycemic seizures, Neona... |
ORPHA:293964 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis |
ORPHA:464738 |
Perlman Syndrome |
|
Hyperinsulinemia |
ORPHA:2849 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Chronic noninfectious lymphadenopathy, Follicular thyroid carcinoma, Abnormal lymph node morpholo... |
ORPHA:319487 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly |
OMIM:619170 |
Mast Cell Sarcoma |
|
Splenomegaly, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:66661 |
Distal Duplication 5Q |
|
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96097 |
Laron Syndrome |
|
Hypercholesterolemia, Truncal obesity |
ORPHA:633 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Abnormal lymph node morphology, Abnormal testis morphology, Elevated circulating C-reactive prote... |
ORPHA:54251 |
Metachromatic Leukodystrophy |
|
Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallbladder |
ORPHA:512 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... |
OMIM:615559 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Insulin resistance, Hyperinsulinemia |
ORPHA:363400 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
Mu-Heavy Chain Disease |
|
Hepatomegaly, Bence Jones Proteinuria, Splenomegaly, Lymphadenopathy, Nephropathy |
ORPHA:100024 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... |
ORPHA:97290 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia, Obesity |
ORPHA:77296 |
Alpha-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Hypocalcemia, Lymphadenopathy |
ORPHA:100025 |
Immunodeficiency With Hyper-Igm, Type 5 |
|
Epididymitis, Lymphadenopathy |
OMIM:608106 |
Infantile Sialic Acid Storage Disease |
|
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Nephrotic syndrome |
OMIM:269920 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Bile duct proliferation, Macrovesicular hepatic steatosis, Decreas... |
OMIM:618329 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Lymphadenopathy, Cardiomegaly |
ORPHA:858 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Lymphadenopathy... |
OMIM:613101 |
Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:86893 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... |
OMIM:308750 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Small for gestational age, Obesity, Truncal obesity |
ORPHA:96184 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
Cog4-Cdg |
|
Hypercholesterolemia, Failure to thrive in infancy |
ORPHA:263501 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hypoinsulinemia, Reactive hy... |
OMIM:600955 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Diabetes insipidus, Elevat... |
ORPHA:300373 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Testicular atrophy, Cardiomegaly,... |
ORPHA:465508 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Cardiom... |
OMIM:618838 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Jaundice, Cholestasis, Steator... |
ORPHA:79303 |
Inflammatory Pseudotumor Of The Liver |
|
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... |
ORPHA:90003 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Elevated circulating creatine kinase concentrat... |
OMIM:300280 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Proteinuria, Elevated circulating C-reactive protein concentration, Asplenia, Incre... |
OMIM:614034 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:212140 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:255120 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
|
Splenomegaly, Lymphadenopathy |
ORPHA:444463 |
Bohring-Opitz Syndrome |
|
Cholelithiasis, Annular pancreas |
ORPHA:97297 |
Pseudo-Torch Syndrome 3 |
|
Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Lymphadenitis, Acute kid... |
OMIM:618886 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Systemic-Onset Juvenile Idiopathic Arthritis |
|
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Splenomegaly, ... |
ORPHA:85414 |
Donohue Syndrome |
|
Precocious puberty, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Fasting hypoglycemia, Po... |
OMIM:246200 |
Hardikar Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic bile duct cysts, Cholangitis, Portal hy... |
OMIM:301068 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
ORPHA:412 |
Follicular Lymphoma |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:545 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Hyperalaninemia, Hyperprolinemia, Cardiomegaly |
OMIM:619064 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Hepatomegaly, Biliary hyperplasia, Cryptorchidism, Cholelithiasis, Pancreatic hypoplasia |
ORPHA:83617 |
Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperplasia, Congenital hepatic fib... |
ORPHA:731 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Li... |
OMIM:248370 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia |
ORPHA:401923 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Congenital Alveolar Capillary Dysplasia |
|
Asplenia, Absent gallbladder, Annular pancreas |
ORPHA:210122 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Mediastinal lymphadenopathy, Ovarian... |
ORPHA:83469 |
8P Inverted Duplication/Deletion Syndrome |
|
Cryptorchidism, Aplasia/Hypoplasia of the gallbladder |
ORPHA:96092 |
Immunodeficiency 27A |
|
Splenomegaly, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, Hypoalbuminemia |
OMIM:209950 |
Familial Cold Autoinflammatory Syndrome 2 |
|
Splenomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:611762 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio... |
OMIM:208500 |
Cerebrotendinous Xanthomatosis |
|
Cholelithiasis, Prolonged neonatal jaundice |
ORPHA:909 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:614702 |
Thymic Neuroendocrine Tumor |
|
Calcium nephrolithiasis, Hypercalcemia, Pituitary null cell adenoma, Pancreatic islet cell adenom... |
ORPHA:97289 |
Lymphoproliferative Syndrome 3 |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:618261 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Pancreatic aplasia |
ORPHA:556955 |
Pentalogy Of Cantrell |
|
Absent gallbladder, Polysplenia |
ORPHA:1335 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy |
OMIM:619051 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly, Hepatic fibrosis, Cholelithiasis |
ORPHA:2072 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic ... |
ORPHA:85451 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Cholestasis, Bile duct proliferation, ... |
OMIM:261515 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated urinary 3-hydroxybutyric acid, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating... |
ORPHA:42 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Cardiomyopathy, Hypothyro... |
OMIM:222300 |
Neuraminidase Deficiency |
|
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Cardiomegaly, Spleno... |
OMIM:256550 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Immunodeficiency, Common Variable, 2 |
|
Splenomegaly, Hepatomegaly, Follicular hyperplasia, Lymphadenopathy |
OMIM:240500 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Lymphadenopathy |
OMIM:617772 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant |
|
Splenomegaly, Lymphadenopathy |
OMIM:615513 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Glucose intolerance, Hyperglycemia, Hyperinsulinemia, Insulin-resistant diabetes mellitus |
OMIM:608612 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Obesity |
ORPHA:819 |
Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Steinert Myotonic Dystrophy |
|
Elevated hepatic transaminase, Hypercholesterolemia, Decreased response to growth hormone stimula... |
ORPHA:273 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Lymphadenopathy, Fluctuating splenomegaly |
OMIM:619220 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:201475 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... |
OMIM:203700 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Cryptorchidism, Splenomegaly, Hypoplasia of the thymus, Cholelithiasis |
ORPHA:567 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Cardiomyopathy, N... |
OMIM:617713 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy |
OMIM:300853 |
Immunodeficiency 76 |
|
Splenomegaly, Lymphadenopathy |
OMIM:619164 |
Steinfeld Syndrome |
|
Absent gallbladder |
OMIM:184705 |
Intrahepatic Cholestasis Of Pregnancy |
|
Elevated hepatic transaminase, Abnormality of the pancreas, Jaundice, Abnormal pineal melatonin s... |
ORPHA:69665 |
Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Pancreatic adenocarcinoma, Abnormality of the gallbladder, Enlarged polyc... |
ORPHA:2869 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Immunodeficiency 109 With Lymphoproliferation |
|
Generalized lymphadenopathy, Splenomegaly, Hypertriglyceridemia |
OMIM:620282 |
Pfapa Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:42642 |
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation |
|
Lymphadenopathy, Hepatosplenomegaly |
OMIM:618982 |
Immunodeficiency 54 |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Adrenal insuffic... |
OMIM:609981 |
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency |
|
Hepatomegaly, Glomerulonephritis, Splenomegaly, Thyroiditis, Lymphadenopathy |
OMIM:619375 |
Triploidy |
|
Hepatomegaly, Abnormality of the gallbladder, Abnormality of the pancreas, Cryptorchidism |
ORPHA:3376 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Atrial septal defect, Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth ... |
OMIM:602782 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Immunodeficiency 64 With Lymphoproliferation |
|
Splenomegaly, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplen... |
OMIM:618534 |
Immunodeficiency 52 |
|
Splenomegaly, Lymphadenopathy |
OMIM:617514 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Cardiomegal... |
ORPHA:57777 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Impaired glucose tolerance, Precocious puberty, Insulin resistance, Fast... |
ORPHA:769 |
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies |
|
Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Lymphadenopathy, Eleva... |
OMIM:619750 |
Genitopalatocardiac Syndrome |
|
Cryptorchidism, Abnormal mesentery morphology, Abnormality of the gallbladder |
ORPHA:2075 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Pericardial effusion, Increa... |
OMIM:613011 |
Timothy Syndrome |
|
Ventricular septal defect, Cardiomegaly, Hypothyroidism, Hypocalcemia, Tetralogy of Fallot, Paten... |
OMIM:601005 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased serum iron, Lymphadenopathy |
OMIM:212050 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Orchitis, Lymphadenitis, Epididymitis, Abnormality of the lympha... |
ORPHA:2035 |
Immunodeficiency 32A |
|
Lymphadenitis, Lymphadenopathy |
OMIM:614893 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hypogonadotropic hypogonadism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:353298 |
Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Neonatal hypoglyc... |
ORPHA:71212 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Pancreatic aplasia, Absent gallbladder, Elevated circulating alanine aminotransferase concentrati... |
OMIM:618500 |
Castleman Disease |
|
Renal insufficiency, Generalized lymphadenopathy, Elevated circulating C-reactive protein concent... |
ORPHA:160 |
Fucosidosis |
|
Hepatomegaly, Abnormality of the gallbladder |
ORPHA:349 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Splenomegaly, Hepatomegaly, Abnormal lymph node morphology, Hepatosplenomegaly |
OMIM:612840 |
Classic Mycosis Fungoides |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:2584 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Membranoproliferative glomerulonephritis, Elevated circulating... |
OMIM:619644 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Refsum Disease, Classic |
|
Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal physiology, Card... |
OMIM:266500 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Cranioectodermal Dysplasia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Cholangitis, Splenomegaly, Biliary cirrhosis, Choles... |
OMIM:613610 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Abnormal urinary color, Lymphadenopathy |
ORPHA:56425 |
Roifman Syndrome |
|
Noncompaction cardiomyopathy, Hepatomegaly, Ventricular septal defect, Splenomegaly, Lymphadenopathy |
OMIM:616651 |
Digeorge Syndrome |
|
Parathyroid agenesis, Splenomegaly, Parathyroid hypoplasia, Hydrocele testis, Ovarian cyst, Hypop... |
OMIM:188400 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Schnitzler Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:37748 |
Cystic Echinococcosis |
|
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Hepatic cysts, Abnor... |
ORPHA:400 |
Activated Pi3K-Delta Syndrome |
|
Splenomegaly, Hepatomegaly, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:397596 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Lymphadenopath... |
OMIM:308240 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Lathosterolosis |
|
Elevated hepatic transaminase, Intrahepatic cholestasis, Bilobate gallbladder, Hepatosplenomegaly |
OMIM:607330 |
Pleural Mesothelioma |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:50251 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ... |
ORPHA:264580 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Increased body weight, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Elevated circulating C-reactive protein ... |
ORPHA:829 |
Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia |
ORPHA:79086 |
Fanconi Anemia, Complementation Group Q |
|
Biliary atresia |
OMIM:615272 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Ureteral duplication, Renal insufficiency, Elevated circulating creatine kinase con... |
OMIM:608836 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Lymphadenopathy |
OMIM:605258 |
Generalized Eruptive Histiocytosis |
|
Lymphadenopathy |
ORPHA:157991 |
Leishmaniasis |
|
Splenomegaly, Hepatomegaly, Hypoalbuminemia, Lymphadenopathy |
ORPHA:507 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Oligosacchariduria, Cardiomegaly |
ORPHA:3137 |
Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism |
OMIM:300712 |
Lig4 Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Cryptorchidism, Lymphadenopathy, Type II diabetes mellitus, Hy... |
ORPHA:99812 |
Caspase 8 Deficiency |
|
Splenomegaly, Lymphadenopathy |
OMIM:607271 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Hepatomegaly, Hyperlipidemia, Lymphadenopathy |
ORPHA:79477 |
Cinca Syndrome |
|
Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly |
OMIM:607115 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Portal hypertension, Cholestasis, Bile duct proliferation, Decreas... |
OMIM:613658 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Biliary atresia, Pancreatic aplasia, Aplasia/Hypoplasia of the gallbladder, Pancreatic hypoplasia... |
ORPHA:2255 |
Rosaï-Dorfman Disease |
|
Lymphadenopathy |
ORPHA:158014 |
Trisomy 8P |
|
Cryptorchidism, Annular pancreas, Aplasia/Hypoplasia of the gallbladder |
ORPHA:264450 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy, Hy... |
OMIM:616897 |
Classic Hodgkin Lymphoma |
|
Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:391 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin level, Umbilical hernia, Hypercholesterolemia, Failure to thri... |
ORPHA:90674 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Absence of lymph node germinal center |
OMIM:606843 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Splenomegaly, Lymphadenitis, Di... |
OMIM:615895 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Bone marrow hypocellularity |
OMIM:613987 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Abnormal ductus choledochus morphology, Hypoplasia of the thymus, Hepatitis, Peritoneal abscess |
ORPHA:436252 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... |
ORPHA:158061 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... |
OMIM:619525 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:618495 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Hyperammonemia... |
ORPHA:391428 |
Legionnaires Disease |
|
Hyponatremia, Pericarditis, Renal insufficiency, Proteinuria, Splenomegaly, Myocarditis, Endocard... |
ORPHA:549 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Immunodeficiency, Common Variable, 1 |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:607594 |
Mogs-Cdg |
|
Atrial septal defect, Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly... |
ORPHA:79330 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphadenopathy, Follicular hyperplasia |
OMIM:619846 |
Indolent Systemic Mastocytosis |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:98848 |
Metachromatic Leukodystrophy, Adult Form |
|
Cholecystitis, Neoplasm of the gallbladder |
ORPHA:309271 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Rhabdoid Tumor |
|
Hematuria, Hypercalcemia, Lymphadenopathy |
ORPHA:69077 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly, Abnormal circulating ceruloplasmin concentration, Abnormal c... |
OMIM:620306 |
Thyroid Lymphoma |
|
Hyperthyroidism, Lymphadenopathy, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Glomerulonephritis, Cardiomegaly |
ORPHA:99931 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc... |
OMIM:130650 |
American Trypanosomiasis |
|
Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy |
ORPHA:3386 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Insulin resistance, Hyperinsulinemia |
OMIM:613327 |
Tularemia |
|
Abnormal nasopharyngeal adenoid morphology, Cervical lymphadenopathy, Mediastinal lymphadenopathy... |
ORPHA:3392 |
Hypocomplementemic Urticarial Vasculitis |
|
Hepatomegaly, Renal insufficiency, Abnormal heart valve morphology, Proteinuria, Pericardial effu... |
ORPHA:36412 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Overweight, Obesity, Hyperproteinemia, Increased circulating renin level, H... |
ORPHA:90041 |
Immunodeficiency 105 |
|
Absence of lymph node germinal center, Hepatosplenomegaly |
OMIM:619924 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Absent gallbladder |
ORPHA:3186 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Cryptorchidism |
ORPHA:163979 |
Williams Syndrome |
|
Cryptorchidism, Cholelithiasis, Polycystic ovaries |
ORPHA:904 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Hypoplasia of the thymus, Hypoproteinemia |
OMIM:603554 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Precocious ... |
OMIM:176270 |
H Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Hepatosplenomegaly, Lymphadenopathy, Azoospermia, Hypogo... |
ORPHA:168569 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Xanthelasma, Steatorrhea... |
ORPHA:275761 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy |
ORPHA:363618 |
Sandhoff Disease |
|
Hepatomegaly, Urinary incontinence, Cardiomegaly, Hepatosplenomegaly, Impotence |
OMIM:268800 |
Primary Biliary Cholangitis |
|
Portal hypertension, Jaundice, Hepatitis, Biliary cirrhosis, Abnormal intrahepatic bile duct morp... |
ORPHA:186 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Splenomegaly, Hepatomegaly, Follicular hyperplasia |
OMIM:614470 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Splenomegaly, Lympha... |
OMIM:603909 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Testicular atrophy |
OMIM:300322 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, S... |
OMIM:603553 |
Lymphoproliferative Syndrome 2 |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:615122 |
Acquired Hypertrichosis Lanuginosa |
|
Lymphadenopathy, Ovarian neoplasm |
ORPHA:2221 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder |
OMIM:617925 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Absent tonsils, Absence of lymph node germinal center |
ORPHA:277 |
Liver Disease, Severe Congenital |
|
Elevated hepatic transaminase, Hepatomegaly, Biliary hyperplasia, Intrahepatic cholestasis, Jaund... |
OMIM:619991 |
Griscelli Syndrome |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Abnormal circulating li... |
ORPHA:381 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Elevated c... |
OMIM:614921 |
Scrub Typhus |
|
Myocarditis, Splenomegaly, Renal insufficiency, Lymphadenopathy |
ORPHA:83317 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Lymphadenopathy |
OMIM:150550 |
Combined Immunodeficiency Due To Zap70 Deficiency |
|
Lymphadenitis, Abnormal lymph node morphology, Lymphadenopathy, Nephrotic syndrome, Hepatosplenom... |
ORPHA:911 |
Immunodeficiency With Hyper-Igm, Type 4 |
|
Absence of lymph node germinal center |
OMIM:608184 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Lymphadenopathy, Pheochromocytoma, Elevated circulating calcitonin c... |
ORPHA:1332 |
Immunodeficiency 7 |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:615387 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Genital ulcers, Splenomegaly, L... |
OMIM:602450 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
Trisomy 10P |
|
Absent gallbladder |
ORPHA:171929 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Pericardial effusion, Lymphadenopathy |
ORPHA:411703 |
Carcinoid Syndrome |
|
Chronic noninfectious lymphadenopathy, Pulmonary carcinoid tumor, Small intestine carcinoid, Abno... |
ORPHA:100093 |
Immunodeficiency 27B |
|
Generalized lymphadenopathy |
OMIM:615978 |
Omenn Syndrome |
|
Hepatomegaly, Splenomegaly, Thyroiditis, Lymphadenopathy, Nephrotic syndrome, Hypothyroidism |
ORPHA:39041 |
Pancreatoblastoma |
|
Pancreatic calcification, Elevated maternal serum alpha-fetoprotein, Abnormal lymph node morphology |
ORPHA:677 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, L... |
ORPHA:540 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Chronic pancreatitis, Pineal c... |
ORPHA:98908 |
Vacterl/Vater Association |
|
Cryptorchidism, Abnormality of the gallbladder, Abnormality of the pancreas |
ORPHA:887 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... |
ORPHA:308552 |
Meckel Syndrome, Type 1 |
|
Accessory spleen, Malformation of the hepatic ductal plate, Asplenia, Cryptorchidism, Splenomegal... |
OMIM:249000 |
Middle Ear Neuroendocrine Tumor |
|
Chronic noninfectious lymphadenopathy, Neuroendocrine neoplasm, Carcinoid tumor |
ORPHA:100084 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphadenopathy, Hepatosplenomegaly, Nephroti... |
OMIM:618935 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Obesity |
OMIM:619471 |
Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Mediastinal lym... |
OMIM:619802 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Pancreatic hypoplasia, Biliary atresia |
OMIM:600001 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Hepatomegaly, Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:3226 |
Rett Syndrome |
|
Cholecystitis |
ORPHA:778 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, ... |
ORPHA:268 |
Papa Syndrome |
|
Type I diabetes mellitus, Proteinuria, Lymphadenopathy |
ORPHA:69126 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619534 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Acute Interstitial Pneumonia |
|
Pericardial effusion, Elevated circulating creatinine concentration, Elevated circulating C-react... |
ORPHA:79126 |
Autoimmune Lymphoproliferative Syndrome |
|
Splenomegaly, Hepatomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia |
OMIM:601859 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Cholecystitis |
ORPHA:309256 |
Cinca Syndrome |
|
Splenomegaly, Hepatomegaly, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
ORPHA:1451 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Impotence, Urinary incontinence, Cardiomegaly |
OMIM:105210 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:618048 |
Mevalonic Aciduria |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
OMIM:610377 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Cholecystitis |
ORPHA:309263 |
Pseudomyxoma Peritonei |
|
Lymphadenopathy |
ORPHA:26790 |
Familial Adenomatous Polyposis |
|
Cholangiocarcinoma, Pancreatic adenocarcinoma, Goiter, Pituitary adenoma, Neoplasm of the gallbla... |
ORPHA:733 |
Leprechaunism |
|
Insulin resistance, Hyperinsulinemia, Central hypothyroidism, Hyperaldosteronism, Increased circu... |
ORPHA:508 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Insulin-resistant diabetes mellitus at puberty, Diabetes mellitus, Hyperinsulinemia, Decreased se... |
OMIM:608594 |
Anaplastic Thyroid Carcinoma |
|
Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy, Goiter |
ORPHA:142 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Abnorma... |
ORPHA:781 |
Poems Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Pericardial effusion, Primary adrenal ins... |
ORPHA:2905 |
Lethal Congenital Contracture Syndrome 10 |
|
Ventricular septal defect, Overriding aorta, Hypoplasia of the thymus, Cardiomegaly |
OMIM:617022 |
Niemann-Pick Disease, Type A |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:257200 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Failure to thrive, Decreased circulating copper concentration |
OMIM:300972 |
Sézary Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:3162 |
Mixed Connective Tissue Disease |
|
Hepatomegaly, Pericarditis, Splenomegaly, Myocarditis, Mediastinal lymphadenopathy, Lymphadenopat... |
ORPHA:809 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Pericarditis, Elevated circulating C-reactive protein concentration, Orchitis, Splenomegaly, Lymp... |
ORPHA:32960 |
Boutonneuse Fever |
|
Renal insufficiency, Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:83313 |
Mycosis Fungoides |
|
Lymphadenopathy |
OMIM:254400 |
Felty Syndrome |
|
Hepatomegaly, Pericarditis, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity |
ORPHA:47612 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Lymphadenitis, Decreased retinol-binding p... |
ORPHA:449395 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Zttk Syndrome |
|
Absent gallbladder |
OMIM:617140 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia, Failure t... |
ORPHA:79259 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly |
OMIM:208000 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Ca... |
OMIM:309000 |
Neuroendocrine Tumor Of The Colon |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, In... |
ORPHA:100080 |
Atypical Werner Syndrome |
|
Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... |
ORPHA:79474 |
Ring Chromosome 13 Syndrome |
|
Hypoplasia of the gallbladder |
ORPHA:96176 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Renal insufficiency, Myocarditis, Thyroiditis, Lymphadenopathy, Tubulointerstitial nephritis, Nep... |
ORPHA:139402 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Insulin-resistant diabetes mellitus at puberty, Hyperinsulinemia, Type II diabetes mellitus, Decr... |
OMIM:269700 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Neonatal insulin-dependent diabetes mellitus, Ventricular septal defect, Cardiomega... |
ORPHA:96191 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:619183 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Inguinal hernia, Hypoammonemia, Abnormal dental enamel morphology, Atypical scarrin... |
ORPHA:534 |
Malakoplakia |
|
Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Abnormality of the menstrual cycle, Urina... |
ORPHA:556 |
Primary Myelofibrosis |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:824 |
Tangier Disease |
|
Orange discolored tonsils, Hypertriglyceridemia, Chronic noninfectious lymphadenopathy, Hepatospl... |
ORPHA:31150 |
Multiple Myeloma |
|
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Lymphadenopathy, Neph... |
ORPHA:29073 |
Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Hepatomegaly, Splenomegaly, Lymphadenopathy, Bone marrow hypocellularity, Type I diabetes mellitus |
OMIM:301078 |
Nephroblastoma |
|
Hematuria, Lymphadenopathy |
ORPHA:654 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Pericardial effusion, Lymphadenopathy, Hematuria, N... |
ORPHA:93552 |
Tetrasomy 9P |
|
Absent gallbladder, Jaundice, Biliary atresia, Cryptorchidism |
ORPHA:3310 |
Bronchial Neuroendocrine Tumor |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Elevated circulating growth hormone conce... |
ORPHA:97287 |
Cutaneous Mastocytoma |
|
Lymphadenopathy |
ORPHA:79455 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Ovarian cyst, Precocious pu... |
OMIM:175200 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Hypopituitarism, Absent peripheral lymph nodes in presence of infection |
ORPHA:98813 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Hyperthyroidism, Abnormality of the endocrine system, Splenomegaly, Abnormal blood ion concentrat... |
ORPHA:37042 |
Familial Mediterranean Fever |
|
Pericarditis, Proteinuria, Orchitis, Splenomegaly, Lymphadenopathy, Nephrocalcinosis, Nephrotic s... |
ORPHA:342 |
Kikuchi-Fujimoto Disease |
|
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... |
ORPHA:50918 |
Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cryptorchidism, Cardiomegaly |
OMIM:618143 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Diffuse Cutaneous Mastocytosis |
|
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy |
ORPHA:79456 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Nephropathy, Hypothyroidism, Hepatomeg... |
ORPHA:116 |
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Viral hepatitis, Liver abscess, Cholangitis, Cholecystitis |
ORPHA:183675 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:616100 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, 3-Methylglutaconic aciduria, Cardiomegaly |
OMIM:619259 |
Solitary Fibrous Tumor |
|
Recurrent hypoglycemia, Hypoglycemia, Hypoinsulinemia |
ORPHA:2126 |
Neuroendocrine Tumor Of The Rectum |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, In... |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, In... |
ORPHA:100082 |
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Hepatomegaly, Splenomegaly, Thyroiditis, Lymphadenopathy, Type I diabetes mellitus |
ORPHA:436159 |
Immunodeficiency 10 |
|
Lymphadenopathy |
OMIM:612783 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Enlarged tonsils, Thyroiditis, Lymphadenopathy, Hepatosplenomegaly, Type I diabetes mellitus, Hyp... |
OMIM:606367 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Lymphangioleiomyomatosis |
|
Abnormal urinary color, Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, H... |
ORPHA:538 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Tetralogy of Fallot, Ab... |
ORPHA:3384 |
Aggressive Systemic Mastocytosis |
|
Hypersplenism, Lymphadenopathy, Hepatosplenomegaly |
ORPHA:98850 |
Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Cardiomegaly, Decreased LDL cholesterol co... |
ORPHA:14 |
Combined Immunodeficiency Due To Crac Channel Dysfunction |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:169090 |
Gamma-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:100026 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Splenomegaly, Pr... |
OMIM:619418 |
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Type I diabetes mellitus, Hypothyroidism, Glomerulonephritis, Lymphadenopathy |
OMIM:304790 |
Klatskin Tumor |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:99978 |
Cyclic Neutropenia |
|
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy |
ORPHA:2686 |
Brucellosis |
|
Hepatomegaly, Pericarditis, Glomerulonephritis, Elevated circulating C-reactive protein concentra... |
ORPHA:1304 |
Melkersson-Rosenthal Syndrome |
|
Oligosacchariduria, Lymphadenopathy |
ORPHA:2483 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Generalized lymphadenopathy, Splenomegaly, Thyroiditis, Lymphadenopathy, Type I diabetes mellitus... |
OMIM:614700 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Abnormal thymus morphology, Cardiomegaly |
ORPHA:2463 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Cryptorch... |
OMIM:300967 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Lymphadenopathy |
OMIM:617591 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Ogden Syndrome |
|
Global glomerulosclerosis, Bicuspid aortic valve, Left atrial enlargement, Maternal diabetes, Car... |
OMIM:300855 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating alpha-fetoprotein conce... |
ORPHA:100085 |
Fucosidosis |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Glycopeptiduria, Oligosacchariduria |
OMIM:230000 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Adenoiditis, Splenomegaly, Heparan sulfate excretion in urine, Recurr... |
ORPHA:581 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia |
OMIM:118450 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424019 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Hepatomegaly, Lymphadenopathy |
ORPHA:343 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Splenomegaly, Hepatomegaly, Enlarged tonsils, Absence of lymph node germinal center |
OMIM:308230 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:169154 |
Hennekam Syndrome |
|
Ectopic kidney, Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Horseshoe kidney,... |
ORPHA:2136 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Pulmonary Capillary Hemangiomatosis |
|
Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:199241 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99413 |
Turner Syndrome |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:881 |
Mosaic Monosomy X |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99228 |
Monosomy X |
|
High urinary gonadotropin level, Increased circulating gonadotropin level, Hyperinsulinemia, Thyr... |
ORPHA:99226 |
Listeriosis |
|
Liver abscess, Jaundice, Peritonitis, Hepatic granulomatosis, Cholecystitis, Splenic abscess |
ORPHA:533 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder |
ORPHA:500150 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Dilated cardio... |
OMIM:615688 |
Hyper-Igd Syndrome |
|
Splenomegaly, Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Renal angiomyolipoma, Elevated ... |
OMIM:260920 |
Acute Promyelocytic Leukemia |
|
Hematuria, Metrorrhagia, Lymphadenopathy |
ORPHA:520 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, Mucopolysaccharidu... |
OMIM:252500 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:617099 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Hepatomegaly, Absence of lymph node germinal center, Hepatosplenomegaly, Urinary retention, Inapp... |
ORPHA:79124 |
Kawasaki Disease |
|
Jaundice, Hepatitis, Cholecystitis |
ORPHA:2331 |
Peters-Plus Syndrome |
|
Cryptorchidism, Biliary tract abnormality, Bilobate gallbladder |
OMIM:261540 |
Familial Pancreatic Carcinoma |
|
Pancreatic adenocarcinoma, Diabetes mellitus, Lymphadenopathy, Hepatosplenomegaly, Ovarian carcinoma |
ORPHA:1333 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Elevated circulating... |
OMIM:256040 |
Graft Versus Host Disease |
|
Lymphadenopathy, Hyperbilirubinemia, Hepatosplenomegaly |
ORPHA:39812 |
Carney Triad |
|
Mediastinal lymphadenopathy, Lymphadenopathy, Adrenocortical adenoma, Pheochromocytoma, Paragangl... |
ORPHA:139411 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Unconjugated hyperbiliru... |
OMIM:618278 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Hepatomegaly, Mediastinal lymphadenopathy, Mitral valve prolapse, Hilar lymph node enlargement, R... |
OMIM:620233 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentr... |
ORPHA:167 |
Neuroendocrine Tumor Of Stomach |
|
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Chronic noninfectious lymphadenopathy, In... |
ORPHA:100075 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Polycystic ovaries |
ORPHA:137675 |
X-Linked Intellectual Disability, Snyder Type |
|
Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
Ileal Neuroendocrine Tumor |
|
Tricuspid stenosis, Lymphadenopathy, Small intestine carcinoid, Pulmonic stenosis, Increased seru... |
ORPHA:100078 |
Marburg Hemorrhagic Fever |
|
Pericarditis, Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamyla... |
ORPHA:99826 |
Coccidioidomycosis |
|
Abnormal sperm morphology, Pericarditis, Renal insufficiency, Abnormality of the endocrine system... |
ORPHA:228123 |
Neurofibroma |
|
Enlargement of parotid gland, Abnormal biliary tract morphology |
ORPHA:252183 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Abnormality of the thyroid gland, Prostatitis, Enlarged lacrimal glands, Abn... |
ORPHA:449432 |
Waldenström Macroglobulinemia |
|
Splenomegaly, Hepatomegaly, Renal insufficiency, Lymphadenopathy |
ORPHA:33226 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Thyroiditis, Lymphadenopathy, Hypocalcemic tetany, Hypothyroidism |
ORPHA:83471 |
Multiple Endocrine Neoplasia Type 2 |
|
Paraganglioma of head and neck, Cervical neoplasm, Elevated urinary catecholamine level, Hypercal... |
ORPHA:653 |
Behçet Disease |
|
Pericarditis, Renal insufficiency, Orchitis, Splenomegaly, Endocarditis, Lymphadenopathy, Abnorma... |
ORPHA:117 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Splenomegaly, Hepatomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Splenomegaly, Hepatomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233710 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Oligosacchariduri... |
ORPHA:365 |
Meige Disease |
|
Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Autoimmune Lymphoproliferative Syndrome |
|
Hepatomegaly, Renal insufficiency, Premature ovarian insufficiency, Chronic noninfectious lymphad... |
ORPHA:3261 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Splenomegaly, Hepatomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:233690 |
Wolf-Hirschhorn Syndrome |
|
Cryptorchidism, Abnormality of the gallbladder, Abdominal situs inversus |
ORPHA:280 |
Crimean-Congo Hemorrhagic Fever |
|
Hepatomegaly, Proteinuria, Elevated circulating creatine kinase concentration, Orchitis, Pericard... |
ORPHA:99827 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Cyst of the ductus choledochus |
OMIM:619480 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Cervical lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphadenopathy |
OMIM:617718 |
Neuroendocrine Neoplasm Of Appendix |
|
Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Ovarian neoplasm, Adreno... |
ORPHA:100079 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
Smith-Lemli-Opitz Syndrome |
|
Cryptorchidism, Abnormality of the gallbladder |
ORPHA:818 |
Farber Disease |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:333 |
Yunis-Varon Syndrome |
|
Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Renovascular hypertension, ... |
ORPHA:3472 |
Igg4-Related Ophthalmic Disease |
|
Elevated circulating C-reactive protein concentration, Orchitis, Abnormality of the anterior pitu... |
ORPHA:449563 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Hypocalcemia, H... |
ORPHA:667 |
Sarcoidosis |
|
Hepatomegaly, Renal insufficiency, Hyperthyroidism, Diabetes insipidus, Hypercalcemia, Abnormal r... |
ORPHA:797 |
Aicardi-Goutières Syndrome |
|
Diabetes mellitus, Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Micropenis, Hyp... |
ORPHA:51 |
Chediak-Higashi Syndrome |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
OMIM:214500 |
Immunodeficiency 31C |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Lymphadenopathy, Delayed puberty, Hypothyroidism |
OMIM:614162 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Cervic... |
OMIM:619573 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Hepatomegaly, Lymphadenopathy |
ORPHA:98849 |
Malt Lymphoma |
|
Abnormality of the thyroid gland, Mediastinal lymphadenopathy, Lymphadenopathy |
ORPHA:52417 |
Aregenerative Anemia |
|
Bone marrow hypocellularity, Lymphadenopathy |
ORPHA:101096 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Tubulointerstitial fibrosis, Hypothyroidism, Lymphadenopathy |
OMIM:607944 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Lymphadenopathy |
ORPHA:293173 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Granulomatous Disease, Chronic, X-Linked |
|
Splenomegaly, Hepatomegaly, Lymphadenitis, Lymphadenopathy |
OMIM:306400 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Selective Igm Deficiency |
|
Lymphadenitis, Thyroid carcinoma, Hashimoto thyroiditis, Lymphadenopathy |
ORPHA:331235 |
Immunodeficiency 82 With Systemic Inflammation |
|
Elevated circulating C-reactive protein concentration, Follicular hyperplasia, Splenomegaly, Lymp... |
OMIM:619381 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Mediastinal lympha... |
OMIM:181000 |
African Trypanosomiasis |
|
Hepatomegaly, Pericarditis, Renal insufficiency, Urinary incontinence, Abnormality of the menstru... |
ORPHA:3385 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Common Variable Immunodeficiency |
|
Splenomegaly, Lymphadenopathy |
ORPHA:1572 |
Leptospirosis |
|
Hepatomegaly, Pericarditis, Cellular urinary casts, Lymphadenopathy, Hyperproteinemia, Acute kidn... |
ORPHA:509 |
Generalized Arterial Calcification Of Infancy |
|
Ventricular hypertrophy, Hyperphosphaturia, Adrenal calcification, Cardiomegaly, Pericardial effu... |
ORPHA:51608 |
Blau Syndrome |
|
Pericarditis, Splenomegaly, Stage 5 chronic kidney disease, Lymphadenopathy, Nephropathy, Abnorma... |
ORPHA:90340 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, Tubulointer... |
ORPHA:79078 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Lymphadenopathy, Hepatosplenomegaly |
ORPHA:85408 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Cyst of the ductus choledochus, Hypoplastic nipples |
ORPHA:480880 |
Primary Sjögren Syndrome |
|
Renal insufficiency, Glomerulonephritis, Thyroiditis, Lymphadenopathy, Tubulointerstitial nephrit... |
ORPHA:289390 |
Immunodeficiency 55 |
|
Lymphadenopathy |
OMIM:617827 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Lymphadenopathy, Hematuria |
ORPHA:536 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Absent peripheral lymph nodes in presence of infection |
OMIM:600802 |
Alström Syndrome |
|
Precocious puberty in females, Decreased response to growth hormone stimulation test, Hypergonado... |
ORPHA:64 |
Pmm2-Cdg |
|
Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentration, Insulin resista... |
ORPHA:79318 |
Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Chikungunya |
|
Cervical lymphadenopathy, Lymphadenopathy |
ORPHA:324625 |
Adenocarcinoma Of The Anal Canal |
|
Lymphadenopathy |
ORPHA:424016 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |