Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Attention Deficit-Hyperactivity Disorder 8 |
|
Attention deficit hyperactivity disorder |
OMIM:619957 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
|
Attention deficit hyperactivity disorder |
OMIM:613003 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglyc... |
OMIM:232700 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Nonketotic hypoglycemia, L... |
ORPHA:293964 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Type II diabetes mel... |
ORPHA:71529 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity, Hypercholesterolemia |
OMIM:608320 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Obesity, Hepatic steatosis, Increased LDL choleste... |
OMIM:615703 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hepatosplenomegaly, Hepatic steatosis, L... |
OMIM:612526 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hepatic fibrosis, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Insulin-resistan... |
ORPHA:280356 |
Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Abnormal adipose tissue morphology, Insulin resistance, Hepatomegaly |
ORPHA:2398 |
Lipodystrophy, Familial Partial, Type 1 |
|
Increased facial adipose tissue, Loss of gluteal subcutaneous adipose tissue, Increased adipose t... |
OMIM:608600 |
Lipase Deficiency, Combined |
|
Lipodystrophy, Hypertriglyceridemia, Pancreatitis, Type II diabetes mellitus |
OMIM:246650 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentration, Hypercholestero... |
OMIM:619855 |
Hyperinsulinism Due To Insr Deficiency |
|
Insulin resistance, Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Fasting ... |
ORPHA:263458 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypoglycemia, Hypertriglyceridemia |
ORPHA:366 |
Growth Hormone Insensitivity Syndrome |
|
Diabetes insipidus, Hypogonadism, Type II diabetes mellitus, Insulin resistance, Diabetes mellitu... |
ORPHA:181393 |
Lipodystrophy, Familial Partial, Type 3 |
|
Cirrhosis, Hyperinsulinemia, Hyperuricemia, Loss of gluteal subcutaneous adipose tissue, Reduced ... |
OMIM:604367 |
Mandibuloacral Dysplasia |
|
Hyperinsulinemia, Contractures of the large joints, Increased circulating free fatty acid level, ... |
ORPHA:2457 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Hepatic steatosis, Lipodystrophy, Insulin-resistant diabetes mellitus, Lipoat... |
OMIM:613877 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Elevated hepatic transaminase, Hyperlipidemia, Hyperglycemia, Obesity |
ORPHA:329249 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Increased serum leptin, Insulin resistance, Obesity, Hyperlipidemia, Hypertrigl... |
OMIM:617885 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Insulin resistance, Decreased serum insulin-like growth factor 1, Truncal obesity |
ORPHA:140941 |
Akt2-Related Familial Partial Lipodystrophy |
|
Insulin resistance, Hepatic steatosis, Lipodystrophy, Decreased serum leptin, Decreased adiponect... |
ORPHA:79085 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Type II diabetes mellitus, Increased LDL cholesterol concentration, H... |
OMIM:610947 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet... |
OMIM:256450 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Large for gestational age, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... |
OMIM:601820 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Ketotic hypoglycemia, Smal... |
ORPHA:324575 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Insulin resistance, Increased adipose tissue around ... |
ORPHA:435660 |
Atherosclerosis Susceptibility |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abnormal circulating lipid concentration, Insulin resistance, Elevated circulating creatine kinas... |
OMIM:615980 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Decreased response t... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Hyperinsulinemia, Childhood-onset truncal obesity, Increased adipose tissue, Decreased response t... |
ORPHA:71526 |
Hyperinsulinism Due To Glucokinase Deficiency |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Recurrent hyp... |
ORPHA:79299 |
Hypertriglyceridemia 1 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism |
OMIM:145750 |
Hyperlipoproteinemia, Type Iv |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Glucose intolerance, Hypopituitarism |
OMIM:144600 |
Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio |
OMIM:125853 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Failure to thrive in infancy, Splenomegaly, Hepatomegaly |
OMIM:619175 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Hypoglycemic seizures, Fasting hyperinsulinemia, Hy... |
OMIM:609968 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Hepatic steatosis, Primary gonadal insufficiency, Hypertriglyceridemia, Insulin-resistant diabete... |
ORPHA:436182 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Hepatic steatosis, Lipodystrophy, Decreased serum le... |
ORPHA:435651 |
Insulin Autoimmune Syndrome |
|
Weight loss, Nonketotic hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Reactive... |
ORPHA:411593 |
Familial Partial Lipodystrophy, Kƶbberling Type |
|
Hyperinsulinemia, Insulin resistance, Hepatic steatosis, Diabetes mellitus, Hepatomegaly, Lipoatr... |
ORPHA:79084 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hyperinsulinemic hypoglycemia, Failure to thrive, Hypoglycemic seizures, Abnormality of the pancr... |
OMIM:606762 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Decreased circulating free... |
ORPHA:276575 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity |
OMIM:300271 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Lipodystrophy, Familial Partial, Type 5 |
|
Increased C-peptide level, Diabetic ketoacidosis, Hepatic steatosis, Lipodystrophy, Decreased ser... |
OMIM:615238 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Glycogen Storage Disease Ixa1 |
|
Hyperuricemia, Elevated hepatic transaminase, Hypoglycemia, Hepatomegaly, Hypercholesterolemia, H... |
OMIM:306000 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,... |
OMIM:619868 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hepatic steato... |
OMIM:610717 |
Hypertriglyceridemia, Transient Infantile |
|
Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Failure to thrive, Hepatomega... |
OMIM:614480 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Increased C-peptide level, Maternal diabetes, Type I ... |
ORPHA:276580 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypercholesterolemia, Increased facial adipose tissue, Hyperinsulinemia, Reduced subcutaneous adi... |
OMIM:151660 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Increased circulating free fatty acid level,... |
ORPHA:71212 |
Congenital Generalized Lipodystrophy |
|
Precocious puberty in females, Cirrhosis, Hyperinsulinemia, Increased C-peptide level, Adipose ti... |
ORPHA:528 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... |
OMIM:301033 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia, Type II diabetes mellitus, Increased LDL cholesterol concentration, Truncal... |
OMIM:615812 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Obesity, D... |
ORPHA:66628 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos... |
OMIM:616829 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoketotic hypoglycemia, Increased C-peptide level, Decreased circulating free fatty acid level,... |
ORPHA:276556 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Insulin resistance, Premature pubarche |
OMIM:614662 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Reduced subcutaneous adipose ... |
ORPHA:363400 |
Diabetes Mellitus, Ketosis-Prone |
|
Diabetes mellitus, Beta-cell dysfunction, Insulin resistance |
OMIM:612227 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex characteristics, Obesity, D... |
ORPHA:179494 |
Mody |
|
Pancreatic hypoplasia, Transient neonatal diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis... |
ORPHA:552 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Insul... |
OMIM:615381 |
Cholesteryl Ester Storage Disease |
|
Hepatic failure, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia, Adrenal calcification, ... |
ORPHA:75234 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Truncal obesity |
OMIM:240900 |
Temple Syndrome |
|
Flexion contracture, Precocious puberty, Small for gestational age, Obesity, Maturity-onset diabe... |
OMIM:616222 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Multiple pancreatic beta-cell adenomas, Increased circulating cortisol... |
ORPHA:79644 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia,... |
ORPHA:276608 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergalactosemia, Increased level of galactitol in plasma, Small for gestation... |
ORPHA:79237 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Elbow flexion contracture, Elevated circulating creatine kinase concentration, Increased LDL chol... |
OMIM:616516 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Overweight, Maturity-onset diabetes of the young |
OMIM:613375 |
Acquired Partial Lipodystrophy |
|
Hepatic steatosis, Lipoatrophy, Insulin resistance |
ORPHA:79087 |
Low Phospholipid-Associated Cholelithiasis |
|
Cholelithiasis, Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, ... |
ORPHA:69663 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Obesity, Increased LDL cholesterol concentration, Decreased HDL choles... |
OMIM:618620 |
Insulinomatosis And Diabetes Mellitus |
|
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... |
OMIM:147630 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Lipodystrophy, Increased LDL cholesterol concentr... |
OMIM:616000 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Asymptomatic hyperammonemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinemic hy... |
ORPHA:35878 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Cirrhosis, Hepatic failure, Cholestatic liver disease, Decreased circulating ceruloplasmin concen... |
OMIM:616828 |
Hyperinsulinism Due To Hnf4A Deficiency |
|
Hypoketotic hypoglycemia, Hyperinsulinemia, Glycosuria, Elevated hepatic transaminase, Large for ... |
ORPHA:263455 |
Glycogen Storage Disease Ixc |
|
Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Hypoglycemia, Bile ... |
OMIM:613027 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Hyperactivity |
ORPHA:436151 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Pparg-Related Familial Partial Lipodystrophy |
|
Cirrhosis, Hyperuricemia, Pancreatitis, Insulin resistance, Maternal diabetes, Hepatic steatosis,... |
ORPHA:79083 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Hypercholesterolemia |
ORPHA:254531 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Cellulitis, Pancreatitis, Insulin resistance, Hepatic steatosis, Lipodystrophy, Diabetes mellitus... |
ORPHA:2348 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoketotic hypoglycemia, Increased circulating free fatty acid level, Small for gestational age,... |
ORPHA:26793 |
Acquired Generalized Lipodystrophy |
|
Cirrhosis, Hyperinsulinemia, Abnormal circulating lipid concentration, Insulin resistance, Hepati... |
ORPHA:79086 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Primary Lipodystrophy |
|
Cirrhosis, Type II diabetes mellitus, Pancreatitis, Insulin resistance, Hepatic steatosis, Lipody... |
ORPHA:90970 |
Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Abnormal circulating lipid concentration, Decreased body weight, Hyperinsuline... |
ORPHA:2298 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... |
OMIM:144250 |
Laron Syndrome |
|
Hypercholesterolemia, Delayed puberty, Hypoglycemia, Truncal obesity, Abnormality of the endocrin... |
ORPHA:633 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Cirrhosis, Elevated circulating alanine aminotransferase concentration, Microvesi... |
OMIM:605814 |
Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
Familial Multiple Lipomatosis |
|
Increased adipose tissue, Insulin resistance, Overgrowth, Lipodystrophy, Hyperlipidemia |
ORPHA:199276 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia, Hepatomegaly |
OMIM:615924 |
Lysosomal Acid Lipase Deficiency |
|
Adrenal insufficiency, Hepatosplenomegaly, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia,... |
OMIM:278000 |
Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hepatomegaly, H... |
OMIM:607616 |
Glycerol Kinase Deficiency |
|
Small for gestational age, Adrenal insufficiency, Adrenocortical hypoplasia, Hypoglycemia, Hypert... |
OMIM:307030 |
Morgagni-Stewart-Morel Syndrome |
|
Hypothyroidism, Hyperuricemia, Abnormality of the endocrine system, Diabetes mellitus, Abnormalit... |
ORPHA:77296 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperinsulinemia, Flexion contracture, Hyperglycemia, Decreased adipose tissue around neck, Gener... |
OMIM:608612 |
Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Transient neonatal diabetes mellitus, Diabetic ketoacidosis, Small for gestationa... |
ORPHA:99886 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholesterol gallstones, Obesity, Hepatic steatosis, Increased LDL cholesterol concentr... |
ORPHA:209902 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Precocious puberty, Diabetic ketoacidosis, Small for gestational age, Hypoglyce... |
OMIM:262190 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Fanconi-Bickel Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatic failure, Abnormal hepatic gl... |
ORPHA:2088 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Hyperinsulinemic hypoglycemia, Dorsocervical fat pad, Diabetes mellitus, Delayed puberty, Delayed... |
OMIM:616033 |
Dysbetalipoproteinemia |
|
Hypercholesterolemia, Hypothyroidism, Obesity, Hepatic steatosis, Diabetes mellitus, Acute pancre... |
ORPHA:412 |
D-Glyceric Aciduria |
|
Nonketotic hyperglycinemia, Increased circulating free fatty acid level, Hyperglycinemia |
ORPHA:941 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hypercholesterolemia, Increased facial adipose tissue, Flexion contracture, Hyperinsulinemia, Imp... |
OMIM:248370 |
Hepatic Lipase Deficiency |
|
Increased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:614025 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Hypogonadism, Type II diabetes mellitus, Atypical scarring of skin, Obesity |
ORPHA:791 |
Congenital Disorder Of Glycosylation, Type Im |
|
Hypoketotic hypoglycemia, Failure to thrive, Increased circulating free fatty acid level |
OMIM:610768 |
Congenital Analbuminemia |
|
Small for gestational age, Increased alpha-globulin, Lipodystrophy, Hypoproteinemia, Hyperlipidem... |
ORPHA:86816 |
Insulinoma |
|
Hyperinsulinemia, Nonketotic hypoglycemia, Neuroendocrine neoplasm, Hyperinsulinemic hypoglycemia... |
ORPHA:97279 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:245900 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Increased facial adipose tissue, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, P... |
ORPHA:280365 |
Perlman Syndrome |
|
Hyperinsulinemia, Inguinal hernia, Hepatomegaly, Tall stature, Abnormal pancreas morphology, Femo... |
ORPHA:2849 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:608594 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr... |
ORPHA:369 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Citrullinemia, Type Ii, Adult-Onset |
|
Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc... |
OMIM:603471 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Jaundice, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Splen... |
OMIM:603552 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia, Precocious puberty, Small for gestational age, Maturity-onset diabetes of t... |
ORPHA:96184 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Keloids, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Obesity |
ORPHA:3085 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance |
ORPHA:369873 |
Mpi-Cdg |
|
Hypothyroidism, Hepatic fibrosis, Hyperinsulinemic hypoglycemia, Failure to thrive, Hepatomegaly,... |
ORPHA:79319 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Portal fibrosis... |
ORPHA:264580 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros... |
OMIM:619662 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Cirrhosis, Hyperinsulinemia, Reduced intraabdominal adipose tissue, Insulin-resistant diabetes me... |
OMIM:269700 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Glycosuria, Elevated hepatic transaminase, Failure to thrive, Postprandial ... |
ORPHA:2089 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Cirrhosis, Ketotic hypoglycemia, Elevated hepatic transam... |
ORPHA:79240 |
Seckel Syndrome 10 |
|
Elevated circulating alanine aminotransferase concentration, Impaired glucose tolerance, Glycosur... |
OMIM:617253 |
Donohue Syndrome |
|
Hepatic fibrosis, Hyperinsulinemia, Precocious puberty, Adipose tissue loss, Postprandial hypergl... |
OMIM:246200 |
Bdv Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin... |
OMIM:619326 |
Alstrom Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Hyperuricemia, Diabetes insipidus, Decreased response to growth... |
OMIM:203800 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hepatic fibrosis, Cirrhosis, Hepatocellular adenoma, Elevated hepatic transaminase, Hepatocellula... |
ORPHA:370 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Flexion contracture, Elevated hepatic transaminase, Insulin resistance, Elevate... |
OMIM:613327 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Hepatitis, Increased circulating ferritin concentration, Hepatomegaly, Hypertriglyceridemia, Sple... |
OMIM:300635 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Type II diabetes mellitus, Overweight, Hypercholesterolemia |
ORPHA:401923 |
Familial Renal Glucosuria |
|
Glycosuria, Insulin resistance, Elevated hemoglobin A1c, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decreased circulating ACT... |
OMIM:615954 |
Bangstad Syndrome |
|
Primary gonadal insufficiency, Hypothyroidism, Hyperinsulinemia, Increased circulating cortisol l... |
ORPHA:1227 |
Apolipoprotein C-Ii Deficiency |
|
Pancreatitis, Decreased circulating apolipoprotein C-II concentration, Hepatomegaly, Hypercholest... |
OMIM:207750 |
Blue Diaper Syndrome |
|
Hyperphosphatemia, Elevated circulating thyroid-stimulating hormone concentration, Elevated hepat... |
ORPHA:94086 |
Hypobetalipoproteinemia, Familial, 1 |
|
Elevated circulating alanine aminotransferase concentration, Decreased LDL cholesterol concentrat... |
OMIM:615558 |
Citrullinemia Type Ii |
|
Hypercholesterolemia, Hepatic fibrosis, Elevated hepatic transaminase, Hepatocellular carcinoma, ... |
ORPHA:247585 |
Developmental And Epileptic Encephalopathy 43 |
|
Impulsivity, Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Familial Chylomicronemia Syndrome |
|
Recurrent pancreatitis, Decreased body weight, Jaundice, Hepatosplenomegaly, Hepatic steatosis, D... |
ORPHA:444490 |
Ataxia-Oculomotor Apraxia 4 |
|
Obesity, Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:616267 |
Glycogen Storage Disease Iii |
|
Hepatic fibrosis, Elevated hepatic transaminase, Elevated circulating creatine kinase concentrati... |
OMIM:232400 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Elevated hepatic transaminase, Hypopituitarism, Hepatosplenomegaly, Hepatic steat... |
OMIM:619013 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia, Increased insulin like growth factor binding protein acid labile subuni... |
OMIM:619489 |
Protoporphyria, Erythropoietic, 1 |
|
Hepatic failure, Hypertriglyceridemia, Cholelithiasis |
OMIM:177000 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hypoglycemia, Hyperuricemia, Hyperlipidemia |
ORPHA:364 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly |
OMIM:613101 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Small for gestational age, Insulin resistance, Failure to thrive, Hypoglycemia, Neo... |
ORPHA:73272 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young |
OMIM:613370 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatic failure, Hepatic fibrosis, Cirrhosis, Steatorrhea, Hyperinsulinemic hypoglycemia, Failure... |
OMIM:602579 |
Hartnup Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:234500 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Achilles tendon contracture, Obesity, Elevated circulating creatine ki... |
ORPHA:98855 |
Developmental And Epileptic Encephalopathy 104 |
|
Hyperactivity, Agitation |
OMIM:619970 |
Cog4-Cdg |
|
Cirrhosis, Elevated hepatic transaminase, Hepatosplenomegaly, Hypercholesterolemia, Fatal liver f... |
ORPHA:263501 |
Smith-Magenis Syndrome |
|
Increased body weight, Hypertriglyceridemia, Abnormality of the thyroid gland, Hypercholesterolemia |
OMIM:182290 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Hyperglycemia, Transient neonatal diabetes mellitus, Severe failure to thrive |
OMIM:601410 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Splenomegaly, Panniculitis |
OMIM:618398 |
Chylomicron Retention Disease |
|
Hypertriglyceridemia, Elevated hepatic transaminase, Steatorrhea, Hepatic steatosis, Failure to t... |
ORPHA:71 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra... |
ORPHA:247598 |
Hyperlysinemia, Type I |
|
Hyperactivity |
OMIM:238700 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Hyperglycemia, Flexion contracture, Type I diabetes mellitus, Reduced C-peptide level |
OMIM:618856 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Hyperlipidemia, Mildly elevated creatine kinase |
OMIM:604484 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Small for gestational age, Type I diabetes mellitus, Elevated hemoglobin A... |
OMIM:618858 |
Hyperlipoproteinemia, Type I |
|
Jaundice, Pancreatitis, Lactescent serum, Hepatosplenomegaly, Hyperlipidemia, Hypercholesterolemi... |
OMIM:238600 |
Hyperlipoproteinemia, Type Id |
|
Recurrent pancreatitis, Decreased LDL cholesterol concentration, Pancreatitis, Failure to thrive,... |
OMIM:615947 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Knee flexion contracture, Flexion contracture, Joint contracture of the hand, Small for gestation... |
OMIM:214150 |
Aromatase Deficiency |
|
Type II diabetes mellitus, Insulin resistance, Eunuchoid habitus, Hepatic steatosis, Hypergonadot... |
ORPHA:91 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Insulin resistance, Delayed puberty, Generalized lipodystrophy, Hyperlipidemia |
ORPHA:90154 |
Hepatic Veno-Occlusive Disease |
|
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatomegaly, Increased body ... |
ORPHA:890 |
Nephrotic Syndrome, Type 14 |
|
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Hypoglycemia, Hypertriglyceridemia, Hypoalbu... |
OMIM:617575 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Impulsivity, Hyperactivity, Agitation |
OMIM:309548 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Achilles tendon contracture, Obesity, Elevated circulating creatine ki... |
ORPHA:98863 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased circulating cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Primary hyperco... |
OMIM:615830 |
Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Achilles tendon contracture, Obesity, Elevated circulating creatine ki... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Elbow flexion contracture, Achilles tendon contracture, Obesity, Elevated circulating creatine ki... |
ORPHA:98853 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
Short Syndrome |
|
Small for gestational age, Insulin resistance, Inguinal hernia, Lipodystrophy, Insulin-resistant ... |
OMIM:269880 |
Estrogen Resistance Syndrome |
|
Hyperinsulinemia, Absence of secondary sex characteristics, Abnormal circulating hormone concentr... |
ORPHA:785 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Flexion contracture, Elevated hepatic transaminase, Lipodystrophy, Failure to thrive, Panniculiti... |
OMIM:617591 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased total bilirubin, Increased VLDL cholesterol concentration, Jaundice, Failure to thrive,... |
OMIM:267700 |
Tangier Disease |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Decreased circulating apolipoprotein A-I c... |
OMIM:205400 |
Hypercholesterolemia, Familial, 3 |
|
Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Hepatocellular carcinoma, Hep... |
ORPHA:158057 |
Multiple Endocrine Neoplasia Type 4 |
|
Pituitary corticotropic cell adenoma, Parathyroid adenoma, Hyperinsulinemic hypoglycemia, Pituita... |
ORPHA:276152 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity |
OMIM:301076 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Small for gestational age, Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c, ... |
OMIM:606176 |
Cholestasis-Lymphedema Syndrome |
|
Cirrhosis, Jaundice, Elevated hepatic transaminase, Neonatal cholestatic liver disease, Hepatomeg... |
OMIM:214900 |
8p23.1 deletion syndrome |
|
Hyperactivity |
DECIPHER:39 |
Cholestasis-Lymphedema Syndrome |
|
Multiple lipomas, Cirrhosis, Jaundice, Acholic stools, Biliary tract abnormality, Neonatal choles... |
ORPHA:1414 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... |
ORPHA:189427 |
Intellectual Developmental Disorder, X-Linked 101 |
|
Hyperactivity |
OMIM:300928 |
Hyperostosis Frontalis Interna |
|
Diabetes mellitus, Increased circulating prolactin concentration, Obesity |
OMIM:144800 |
Glycine Encephalopathy |
|
Impulsivity, Hyperactivity, Restlessness |
OMIM:605899 |
Rabson-Mendenhall Syndrome |
|
Hypothyroidism, Increased C-peptide level, Precocious puberty, Increased serum testosterone level... |
ORPHA:769 |
Hypercholesterolemia, Familial, 2 |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:144010 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Increased circulating cortisol level, Abnormal subcutaneous fat tissue distribution, Type II diab... |
ORPHA:189439 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypercholesterolemia, Peritonitis, Hypertriglyceridemia... |
ORPHA:567548 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Small for gestational age, Type I... |
OMIM:274300 |
Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperaldosteronism, Increased circulating cortisol level, Weight loss,... |
ORPHA:1501 |
Werner Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hypogonadism, Elevated circulating a... |
OMIM:277700 |
Lipodystrophy, Familial Partial, Type 7 |
|
Recurrent pancreatitis, Impaired glucose tolerance, Small for gestational age, Reduced subcutaneo... |
OMIM:606721 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Adrenal insuffici... |
OMIM:609734 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Increased circulating prolactin concentration, Increased pituitary glycoprotein hormone alpha sub... |
ORPHA:90674 |
Estrogen Resistance |
|
Increased serum estradiol, Hyperinsulinemia, Impaired glucose tolerance, Delayed puberty, Glucose... |
OMIM:615363 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance, Male hypogonadism |
OMIM:307500 |
Macrophage Activation Syndrome |
|
Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated circulating aspa... |
ORPHA:158061 |
Proprotein Convertase 1/3 Deficiency |
|
Hypogonadotropic hypogonadism, Decreased circulating cortisol level, Reactive hypoglycemia, Obesity |
OMIM:600955 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Hypertriglyceridemia, Decreased HDL chole... |
ORPHA:650 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hyperglycemia, Hypothyroidism, Hypopituitarism, Hypercholesterolemia |
ORPHA:90065 |
Gaisbƶck Syndrome |
|
Hyperuricemia, Obesity, Increased circulating renin level, Diabetes mellitus, Cholecystitis, Over... |
ORPHA:90041 |
Short Syndrome |
|
Weight loss, Insulin resistance, Lipodystrophy, Inguinal hernia, Diabetes mellitus, Abnormal dent... |
ORPHA:3163 |
Smith-Magenis Syndrome |
|
Hypothyroidism, Precocious puberty, Obesity, Delayed puberty, Hypercholesterolemia, Hypertriglyce... |
ORPHA:819 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Neonatal hypogl... |
OMIM:619418 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Transient neonatal diabetes mellitus, Maternal diabetes, Elevated hemoglobin A1c, Reduced C-pepti... |
OMIM:610582 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Insulin resistance, Insulin-resistant diabetes... |
ORPHA:90301 |
Monosomy 13Q34 |
|
Hepatic steatosis, Obesity, Insulin resistance, Hypercalcemia |
ORPHA:96168 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Subaortic Stenosis-Short Stature Syndrome |
|
Abnormal circulating lipid concentration, Type II diabetes mellitus, Biliary tract abnormality, I... |
ORPHA:3191 |
Placental Insufficiency |
|
Small for gestational age, Insulin resistance |
ORPHA:439167 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hypoketotic hypoglycemia, Elevated circulating alanine aminotransferase concentration, Elevated h... |
OMIM:255120 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased total bilirubin, Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Failure t... |
OMIM:603553 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Flexion contracture, Insulin resistance, Hyperlipidemia |
ORPHA:90153 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Elevated hepatic transaminase, Obesity, Hepat... |
ORPHA:98907 |
Lysosomal Acid Lipase Deficiency |
|
Hypercholesterolemia, Hepatic fibrosis, Hepatic failure, Microvesicular hepatic steatosis, Hypona... |
ORPHA:275761 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia, Splenomegaly |
ORPHA:66518 |
Leprechaunism |
|
Central hypothyroidism, Hyperaldosteronism, Hyperinsulinemia, Decreased body weight, Reduced subc... |
ORPHA:508 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Hypothyroidism, Abnormal circulating lipid concentration, Insulin resistance, Inguinal hernia, Di... |
OMIM:616541 |
Neutral Lipid Storage Myopathy |
|
Abnormal circulating creatine kinase concentration, Chronic pancreatitis, Pineal cyst, Elevated h... |
ORPHA:98908 |
H Syndrome |
|
Hernia, Hypogonadism, Camptodactyly, Hepatosplenomegaly, Lipodystrophy, Diabetes mellitus, Delaye... |
ORPHA:168569 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased T3/T4 ratio, Impaired sensitivity to thyroid hormone, Congen... |
OMIM:614450 |
Immunodeficiency 47 |
|
Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Exocrin... |
OMIM:300972 |
Werner Syndrome |
|
Hypogonadism, Thyroid carcinoma, Type II diabetes mellitus, Insulin resistance, Lipodystrophy, Sl... |
ORPHA:902 |
Central Precocious Puberty |
|
Isosexual precocious puberty, Premature thelarche, Overgrowth, Increased circulating gonadotropin... |
ORPHA:759 |
Carnitine Palmitoyl Transferase 1A Deficiency |
|
Hepatic failure, Elevated hepatic transaminase, Transient hyperlipidemia, Hypoglycemia, Hepatomegaly |
ORPHA:156 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypercholesterolemia, Hypothyroidism, Hyperuricemia, Hepatocellular adenoma, Thyroiditis, Hepatoc... |
ORPHA:79259 |
X-Linked Acrogigantism |
|
Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Incr... |
ORPHA:300373 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Elevated circulating alpha-f... |
ORPHA:64753 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hyperinsulinemia, Insulin resistance, Increased blood urea nitrogen, Hypoglycemia, Elevated circu... |
ORPHA:230 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Jaundice, Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatomega... |
ORPHA:540 |
Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Whipple Disease |
|
Hypothyroidism, Cachexia, Insulin resistance, Hepatomegaly, Hyponatremia, Splenomegaly |
ORPHA:3452 |
Silver-Russell Syndrome |
|
Precocious puberty, Cachexia, Insulin resistance, Recurrent hypoglycemia, Obesity, Failure to thr... |
ORPHA:813 |
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:617182 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypoplastic spleen, Hypertriglyceridemia, Hypoplasia of the thymus, Increased circulating ferriti... |
OMIM:619313 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Steatorrhea,... |
OMIM:607765 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Congenital hypothyroidism, Obesity, Hypoalbuminemia |
ORPHA:88643 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Exocrine pancreatic insufficiency, Elevated hemoglobin A1c, Hyperglycemia, Maturity-onset diabete... |
OMIM:609812 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Glycosuria, Hypophosphatemia, Elevated hepatic transaminase, Large for gestational age, Diabetes ... |
OMIM:616026 |
Woodhouse-Sakati Syndrome |
|
Hypothyroidism, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Decrease... |
ORPHA:3464 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Lipoatrophy, Hypercholesterolemia, Pulmonary carcinoid tumor, Hypertriglyceridemia, Abnormal intr... |
ORPHA:363618 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Solitary Fibrous Tumor/Hemangiopericytoma |
|
Weight loss, Neoplasm of the liver, Abnormality of the peritoneum, Hypoglycemia, Hypophosphatemic... |
ORPHA:2126 |
Bardet-Biedl Syndrome 1 |
|
Hepatic fibrosis, Hypogonadism, Insulin resistance, Biliary tract abnormality, Diabetes mellitus,... |
OMIM:209900 |
Halothane Hepatitis |
|
Hepatitis, Viral hepatitis, Jaundice, Obesity |
OMIM:234350 |
Xp21 Deletion Syndrome |
|
Adrenal insufficiency, Primary adrenal insufficiency, Elevated circulating creatine kinase concen... |
ORPHA:261476 |
Atypical Werner Syndrome |
|
Hyperinsulinemia, Decreased body weight, Hypogonadism, Glycosuria, Type II diabetes mellitus, Hep... |
ORPHA:79474 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Obesity, Hypogonadism |
OMIM:615981 |
Lysinuric Protein Intolerance |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Hepatomegaly, Hypercholesterolemia, Increased ... |
ORPHA:470 |
Parenteral Nutrition-Associated Cholestasis |
|
Cholelithiasis, Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Small for gest... |
ORPHA:567983 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Hypo... |
OMIM:603233 |
Bardet-Biedl Syndrome 20 |
|
Elevated hepatic transaminase, Male hypogonadism, Hypercholesterolemia, Obesity, Pancreatitis |
OMIM:619471 |
Methanol Poisoning |
|
Type II diabetes mellitus, Type I diabetes mellitus, Hyperlipidemia |
ORPHA:31825 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Flexion contracture, Elevated circulating thyroid-stimulating hormone co... |
OMIM:256040 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatic failure, Hepatic fibrosis, Impaired glucose tolerance, Glucose intolerance, Cholestasis, ... |
OMIM:615630 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Hypothyroidism, Cirrhosis, Abnormality of iron homeostasis, Weight loss, Elevated transferrin sat... |
ORPHA:465508 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Widened atrophic scar, Ventral hernia, Cellulitis, Inguinal hernia, Diabetes mellitus, Hypertrigl... |
ORPHA:536532 |
Gitelman Syndrome |
|
Parathyroid adenoma, Diabetic ketoacidosis, Type II diabetes mellitus, Neoplasm of the pancreas, ... |
ORPHA:358 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... |
OMIM:210250 |
Megalocornea-Mental Retardation Syndrome |
|
Primary hypothyroidism, Hypercholesterolemia |
OMIM:249310 |
Immunodeficiency 97 With Autoinflammation |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomegaly |
OMIM:619802 |
Macrosomia Adiposa Congenita |
|
Obesity, Large for gestational age, Adrenocortical adenoma |
OMIM:248100 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Microtriplication 11Q24.1 |
|
Obesity, Hyperlipidemia |
ORPHA:289522 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypothyroidism, Hypercholesterolemia |
ORPHA:2479 |
Polyendocrine-Polyneuropathy Syndrome |
|
Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio... |
ORPHA:453533 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Cholelithiasis, Cirrhosis, Hepatic failure, Abnormal circulating lipid concentration, Hyperspleni... |
ORPHA:77293 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... |
ORPHA:99832 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Hyponatremia, Hyp... |
OMIM:618183 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... |
OMIM:619755 |
Leptin Receptor Deficiency |
|
Decreased response to growth hormone stimulation test, Diabetes mellitus, Delayed puberty, Hyperg... |
OMIM:614963 |
Nephrotic Syndrome, Type 1 |
|
Hypothyroidism, Small for gestational age, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Wilson Disease |
|
Cirrhosis, Weight loss, Hepatitis, Jaundice, Elevated hepatic transaminase, Hepatic steatosis, Fa... |
ORPHA:905 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Flexion contracture, Glucose intolerance, Elevated hepatic transaminase, Generalized lipodystroph... |
OMIM:619127 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Elevated hepatic transaminase, Failure to thrive, Hypoglycemia, Hyperammonemia, Hyperglycemia, Ac... |
OMIM:615453 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Small for gestational age, Type I diabetes mellitus, Hyperglycemia |
OMIM:618857 |
Prader-Willi Syndrome |
|
Hyperinsulinemia, Precocious puberty, Decreased response to growth hormone stimulation test, Adre... |
OMIM:176270 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypogonadism, Type II diabetes mellitus, Eunuchoid habitus, Abnormality of the thyroid gland, Obe... |
ORPHA:2234 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Diabetes mellitus, Obesity, Absence of pubertal development |
OMIM:610628 |
Glycogen Storage Disease Ia |
|
Hyperuricemia, Elevated hepatic transaminase, Hepatocellular carcinoma, Hypoglycemia, Delayed pub... |
OMIM:232200 |
Pancreatic Agenesis 1 |
|
Pancreatic hypoplasia, Neonatal insulin-dependent diabetes mellitus, Failure to thrive, Pancreati... |
OMIM:260370 |
Alagille Syndrome 1 |
|
Cirrhosis, Hepatic failure, Elevated hepatic transaminase, Hepatocellular carcinoma, Reduced numb... |
OMIM:118450 |
Mitchell-Riley Syndrome |
|
Pancreatic hypoplasia, Absent gallbladder, Biliary atresia, Hyperbilirubinemia, Acholic stools, D... |
OMIM:615710 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... |
ORPHA:157 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Obesity, Hypoparathyroidism, Hypercalcemia, Hypertriglyceridemia |
ORPHA:369837 |
Pseudohypoparathyroidism, Type Ic |
|
Enamel hypoplasia, Hypocalcemic tetany, Hyperphosphatemia, Hypothyroidism, Elevated circulating t... |
OMIM:612462 |
Hypothyroidism, Central, With Testicular Enlargement |
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Hypothyroidism, Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inapprop... |
OMIM:300888 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
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Precocious puberty, Decreased response to growth hormone stimulation test, Small for gestational ... |
ORPHA:96182 |
Bloom Syndrome |
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Small for gestational age, Insulin resistance, Adipose tissue loss, Diabetes mellitus, Abdominal ... |
ORPHA:125 |
Hemophagocytic Syndrome Associated With An Infection |
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Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatomegaly, Hyperp... |
ORPHA:158048 |
Pseudopseudohypoparathyroidism |
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Hyperphosphatemia, Abnormality of the endocrine system, Elevated circulating parathyroid hormone ... |
ORPHA:79445 |
Immunodeficiency 87 And Autoimmunity |
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Elevated circulating alanine aminotransferase concentration, Hepatic failure, Small for gestation... |
OMIM:619573 |
Steinert Myotonic Dystrophy |
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Hyperinsulinemia, Decreased response to growth hormone stimulation test, Abnormality of thyroid p... |
ORPHA:273 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia... |
ORPHA:99413 |
Turner Syndrome |
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High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia... |
ORPHA:881 |
Mosaic Monosomy X |
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High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia... |
ORPHA:99228 |
Monosomy X |
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High urinary gonadotropin level, Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hyperinsulinemia... |
ORPHA:99226 |
Tangier Disease |
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Hypocholesterolemia, Hypertriglyceridemia, Hepatosplenomegaly |
ORPHA:31150 |
Griscelli Syndrome Type 2 |
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Jaundice, Hyperlipidemia, Splenomegaly, Hepatomegaly |
ORPHA:79477 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
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Hypoketotic hypoglycemia, Hepatic failure, Elevated circulating acylcarnitine concentration, Decr... |
ORPHA:228308 |
Glycogen Storage Disease Ib |
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Hyperuricemia, Pancreatitis, Elevated hepatic transaminase, Hepatocellular carcinoma, Hypoglycemi... |
OMIM:232220 |
19P13.12 Microdeletion Syndrome |
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Hypothyroidism, Precocious puberty, Hepatic steatosis, Hyperlipidemia, Obesity, Arthrogryposis mu... |
ORPHA:254346 |
Liver Disease, Severe Congenital |
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Peritonitis, Elevated hepatic transaminase, Portal inflammation, Hyperinsulinemic hypoglycemia, E... |
OMIM:619991 |
ChƩdiak-Higashi Syndrome |
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Jaundice, Elevated hepatic transaminase, Hepatosplenomegaly, Increased circulating ferritin conce... |
ORPHA:167 |
Pituitary Adenoma 4, Acth-Secreting |
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Impaired glucose tolerance, Hypokalemia, Increased circulating ACTH level, Pituitary adenoma, Obe... |
OMIM:219090 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
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Increased body weight |
ORPHA:589905 |
Thalidomide Embryopathy |
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Insulin resistance |
ORPHA:3312 |
Cole Disease |
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Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
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Thyroid hypoplasia, Hypoglycemia, Decreased circulating T4 concentration, Decreased circulating f... |
ORPHA:226307 |
Lowe Oculocerebrorenal Syndrome |
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Camptodactyly of finger, Enamel hypoplasia, Elevated maternal serum alpha-fetoprotein, Joint cont... |
OMIM:309000 |
Oculocerebrorenal Syndrome Of Lowe |
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Diabetes insipidus, Hyperaldosteronism, Abnormal calcium-phosphate regulating hormone level, Hypo... |
ORPHA:534 |
Pancreatic And Cerebellar Agenesis |
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Pancreatic hypoplasia, Flexion contracture, Reduced subcutaneous adipose tissue, Diabetes mellitu... |
OMIM:609069 |
Bardet-Biedl Syndrome 6 |
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Diabetes mellitus, Obesity |
OMIM:605231 |
Sheehan Syndrome |
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Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Decreased c... |
ORPHA:91355 |
Wiedemann-Rautenstrauch Syndrome |
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Camptodactyly of finger, Increased serum estradiol, Increased circulating prolactin concentration... |
ORPHA:3455 |
Aapoaiv Amyloidosis |
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Diabetes mellitus, Elevated circulating creatinine concentration, Hyperlipidemia |
ORPHA:439232 |
Cushing Disease |
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Pituitary corticotropic cell adenoma, Increased circulating cortisol level, Impaired glucose tole... |
ORPHA:96253 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Biliary cirrhosis, Hepatomegaly, Hypercholesterolemia, Splenomegaly, Conjugated hyperbilirubinemi... |
OMIM:619534 |
Sotos Syndrome |
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Neonatal hypoglycemia, Overgrowth, Tall stature, Prolonged neonatal jaundice, Glucose intolerance... |
OMIM:117550 |
Narcolepsy 7 |
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Type II diabetes mellitus, Obesity |
OMIM:614250 |
Glycogen Storage Disease Ic |
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Chronic pancreatitis, Hyperuricemia, Hepatocellular carcinoma, Hepatoblastoma, Hypoglycemia, Dela... |
OMIM:232240 |
Alstrƶm Syndrome |
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Elevated hepatic transaminase, Dorsocervical fat pad, Hepatic steatosis, Hepatosplenomegaly, Decr... |
ORPHA:64 |
Wiedemann-Rautenstrauch Syndrome |
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Flexion contracture, Increased serum testosterone level, Hypoplasia of the thymus, Small for gest... |
OMIM:264090 |
X-Linked Lymphoproliferative Disease |
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Hepatic failure, Fulminant hepatitis, Hepatic necrosis, Elevated hepatic transaminase, Hepatosple... |
ORPHA:2442 |
Woodhouse-Sakati Syndrome |
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Elevated circulating thyroid-stimulating hormone concentration, Diabetes mellitus, Decreased seru... |
OMIM:241080 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Pancreatitis, Elevated circulating creatine kinase concentration, Diabetes mellitus, Hyperlipidem... |
ORPHA:565612 |
Cushing Syndrome Due To Ectopic Acth Secretion |
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Pituitary corticotropic cell adenoma, Atypical pulmonary carcinoid tumor, Adrenal hyperplasia, Do... |
ORPHA:99889 |
Magel2-Related Prader-Willi-Like Syndrome |
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Central hypothyroidism, Flexion contracture, Precocious puberty, Hypogonadism, Hypothalamic lutei... |
ORPHA:398069 |
Combined Deficiency Of Factor V And Factor Viii |
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Hyperuricemia, Hyperlipidemia |
ORPHA:35909 |
Isolated Permanent Neonatal Diabetes Mellitus |
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Pancreatic hypoplasia, Lower-limb joint contracture, Reduced pancreatic beta cells, Neonatal insu... |
ORPHA:99885 |
Thyrotoxic Periodic Paralysis |
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Episodic hypokalemia, Thyrotoxicosis with toxic single thyroid nodule, Hyperthyroidism, Thyrotoxi... |
ORPHA:79102 |
Hutchinson-Gilford Progeria Syndrome |
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Female hypogonadism, Pubertal developmental failure in females, Weight loss, Insulin resistance, ... |
ORPHA:740 |
Schimke Immuno-Osseous Dysplasia |
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Abnormality of thyroid physiology, Small for gestational age, Failure to thrive, Hyperlipidemia, ... |
ORPHA:1830 |
Pmm2-Cdg |
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Hepatic fibrosis, Hyperinsulinemia, Elevated circulating thyroid-stimulating hormone concentratio... |
ORPHA:79318 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
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Increased body weight |
OMIM:300860 |
Homozygous Familial Hypercholesterolemia |
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Hepatic steatosis, Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Central hypothyroidism, Increased circulating prolactin concentration, Gonadotropin deficiency, D... |
ORPHA:293987 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia |
OMIM:235400 |
Tenorio Syndrome |
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Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Beckwith-Wiedemann Syndrome |
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Hypothyroidism, Adrenocortical cytomegaly, Adrenocortical carcinoma, Large for gestational age, N... |
ORPHA:116 |
Carney Complex |
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Increased circulating prolactin concentration, Precocious puberty, Increased circulating cortisol... |
ORPHA:1359 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Glycosuria, Inguinal hernia, Congenit... |
OMIM:600001 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Increased body weight |
ORPHA:64745 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Hyperlipidemia, Hypoalbuminemia |
ORPHA:567546 |
Hellp Syndrome |
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Elevated hepatic transaminase, Increased body weight |
ORPHA:244242 |
Leukocyte Adhesion Deficiency |
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Peritonitis, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
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OMIM:618797 |