| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
| Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio |
OMIM:125853 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Insulin resistance |
ORPHA:140941 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity |
OMIM:614662 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... |
OMIM:615703 |
| Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology |
ORPHA:2398 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
| Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Hyperlipidemia, Hypercholestero... |
OMIM:232700 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Increased subc... |
OMIM:608600 |
| Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Polyphagia, Obesity, Tall stature |
OMIM:618406 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity |
OMIM:617885 |
| Obesity And Hypopigmentation |
|
Overgrowth, Polyphagia, Obesity |
OMIM:620195 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... |
OMIM:615980 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Increased adipose tissue, Obesity, Failure to thrive, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71526 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
| Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Insu... |
OMIM:612526 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
| Bardet-Biedl Syndrome 22 |
|
Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large for gestational age |
OMIM:256450 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Fasting hypoglycemia, Obesity, Abnormal circulating selenium concentration |
ORPHA:171706 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age |
OMIM:601820 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
| Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Hyperactivity, Ataxia, Obesity, Inappropriate laughter, Polyphagia |
ORPHA:411515 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
| Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus |
OMIM:612227 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
| Leptin Deficiency Or Dysfunction |
|
Polyphagia, Obesity |
OMIM:614962 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Gait disturbance, Obesity |
ORPHA:436141 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Obesity, Aggressive behavior |
OMIM:620270 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Leptin Receptor Deficiency |
|
Abnormal eating behavior, Polyphagia, Obesity, Aggressive behavior |
OMIM:614963 |
| Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Inability to walk, Weight loss, Bradykinesia, Add... |
ORPHA:399 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Insulin-resistant diabetes mellitus, Insulin resistance, Inc... |
ORPHA:79085 |
| 14Q11.2 Microduplication Syndrome |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
ORPHA:261229 |
| 6Q16 Microdeletion Syndrome |
|
Broad-based gait, Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Obesity Due To Sim1 Deficiency |
|
Polyphagia, Obesity, Attention deficit hyperactivity disorder |
ORPHA:369873 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Elevated circu... |
ORPHA:435660 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Obesity |
ORPHA:177910 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
| Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
| Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
| Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
| Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia |
ORPHA:436182 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... |
OMIM:616222 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Lethargy, Agitation, Polyphagia, Large for gestational age |
ORPHA:276556 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Large for gestational age, Agitation, Lethargy, Polyphagia |
ORPHA:324575 |
| Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy |
ORPHA:79087 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Lethargy, Agitation, Polyphagia, Large for gestational age |
ORPHA:276575 |
| Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Diabetes mellitus, Lipodystrophy, Adipose tissue loss, Insulin resistance, ... |
ORPHA:528 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Inability to walk, Flexion contracture, Obesity, Skin-... |
OMIM:615547 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Lethargy, Agitation, Polyphagia, Large for gestational age |
ORPHA:276580 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
| Familial Multiple Lipomatosis |
|
Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Overgrowth |
ORPHA:199276 |
| Neutral Lipid Storage Disease With Myopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
OMIM:610717 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Polydipsia, Polyphagia, Obesity |
OMIM:615986 |
| Bardet-Biedl Syndrome 10 |
|
Obesity |
OMIM:615987 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Insulin-resist... |
ORPHA:435651 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Inguinal hernia, Obesity |
OMIM:300209 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
| Temple Syndrome |
|
Small for gestational age, Polyphagia, Obesity |
ORPHA:254516 |
| Summitt Syndrome |
|
Obesity |
OMIM:272350 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
| Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Glycogen Storage Disease 0, Liver |
|
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia |
OMIM:240600 |
| Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Obesity |
OMIM:615981 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Reduced intraabdominal adipose tissue,... |
ORPHA:363400 |
| 11P15.4 Microduplication Syndrome |
|
Obesity, Aggressive behavior |
ORPHA:300305 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Hypertriglyceridemia, Lipodystrophy, Increased C-peptide level |
OMIM:615238 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Broad-based gait, Ataxia, Inability to walk, Obesity |
OMIM:616756 |
| Bardet-Biedl Syndrome 5 |
|
Obesity |
OMIM:615983 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Hypertriglyceridemia, Lipodystro... |
OMIM:615381 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Reduced C-peptide level, Hyperglycemia, Flexion contracture |
OMIM:618856 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypoinsulinemia, Obesity, Reactive hypoglycemia |
OMIM:600955 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis, Obesity |
OMIM:257500 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Obesity |
ORPHA:85274 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypoglycemia, Hyperuricemia |
OMIM:306000 |
| Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
| Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
| Obesity Due To Congenital Leptin Deficiency |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Obesity |
ORPHA:66628 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia |
OMIM:307500 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia, Obesity |
ORPHA:179494 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity |
ORPHA:2139 |
| Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Morm Syndrome |
|
Truncal obesity, Hyperactivity, Aggressive behavior |
ORPHA:75858 |
| Mehmo Syndrome |
|
Diabetes mellitus, Obesity |
ORPHA:85282 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Diabetes mellitus, Lipoatroph... |
ORPHA:79083 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
| Hypertriglyceridemia, Transient Infantile |
|
Failure to thrive, Hypertriglyceridemia |
OMIM:614480 |
| Mehmo Syndrome |
|
Small for gestational age, Aggressive behavior, Inability to walk, Obesity, Gait ataxia, Difficul... |
OMIM:300148 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Hypertriglyceridemia, Lipodystro... |
ORPHA:2348 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Fasting hypoglycemia, Hyperinsuli... |
ORPHA:276608 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
| Retinitis Pigmentosa |
|
Atypical scarring of skin, Type II diabetes mellitus, Hyperinsulinemia, Obesity |
ORPHA:791 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, O... |
ORPHA:3077 |
| Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity |
ORPHA:88643 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Ataxia, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Parox... |
ORPHA:228402 |
| Man1B1-Cdg |
|
Truncal obesity, Broad-based gait, Polyphagia |
ORPHA:397941 |
| Luscan-Lumish Syndrome |
|
Overgrowth, Polyphagia, Obesity, Aggressive behavior |
OMIM:616831 |
| Insulinoma |
|
Lethargy, Polyphagia, Increased body weight |
ORPHA:97279 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Increased body weight, Abdominal obesity, Hyperglycemia |
OMIM:615954 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Hypoglycemia, Insulin resistance, Truncal obesity, Failure to thrive, ... |
ORPHA:73272 |
| Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Keloids, Type II diabetes mellitus, Hyperinsulinemia, Obesity |
ORPHA:3085 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia,... |
ORPHA:94086 |
| Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia, Weight loss |
OMIM:275000 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Childhood-onset truncal obesity |
OMIM:610156 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Small for gestational age, Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... |
OMIM:262190 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia, Obesity |
OMIM:609734 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Obesity |
OMIM:614651 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Polyphagia |
OMIM:222100 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Obesity |
ORPHA:217377 |
| Intellectual Developmental Disorder, X-Linked 108 |
|
Overweight, Broad-based gait, Difficulty walking, Attention deficit hyperactivity disorder |
OMIM:301024 |
| Intellectual Developmental Disorder, Autosomal Recessive 46 |
|
Ataxia, Large for gestational age, Aggressive behavior, Self-injurious behavior, Agitation |
OMIM:616116 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Obesity |
OMIM:610628 |
| Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Obesity, Increa... |
ORPHA:412 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Inguinal hernia, Abnormal circulating lipid concentration, Obesity |
ORPHA:3191 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive |
ORPHA:2089 |
| Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia |
OMIM:618010 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Dorsocervical fat pad, Increased body weight, Increased circulating cortisol l... |
OMIM:615830 |
| Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Inability to walk, Tongue thrusting... |
ORPHA:72 |
| Diabetes Mellitus, Permanent Neonatal, 3 |
|
Type I diabetes mellitus, Hyperglycemia, Small for gestational age, Glycosuria |
OMIM:618857 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
| Short Syndrome |
|
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... |
OMIM:269880 |
| Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Obesity |
OMIM:605231 |
| Xq27.3Q28 Duplication Syndrome |
|
Truncal obesity, Failure to thrive |
ORPHA:261483 |
| Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Type II diabetes mellitus, Obesity |
ORPHA:2234 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Insulin resistance, Flexion contracture, Elbow flexion contracture, Kn... |
OMIM:214150 |
| Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Obesity |
ORPHA:2377 |
| Placental Insufficiency |
|
Insulin resistance, Small for gestational age |
ORPHA:439167 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Loss of ambulation, Unsteady gait, Ataxia, Obesity |
OMIM:618124 |
| Acquired Generalized Lipodystrophy |
|
Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, ... |
ORPHA:79086 |
| Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia |
OMIM:612469 |
| Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Diabetes mellitus, Hyperuricemia, Obesity |
ORPHA:77296 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Obesity, Tip-toe gait, Dysphagia, Spastic gait |
OMIM:604360 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98855 |
| Bardet-Biedl Syndrome 16 |
|
Obesity |
OMIM:615993 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors |
ORPHA:444002 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Gait disturbance, Camptodactyly of finger |
ORPHA:2928 |
| Essential Fructosuria |
|
Hyperglycemia |
ORPHA:2056 |
| Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug... |
ORPHA:411511 |
| Fanconi-Bickel Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Hypophosphatemia, Fasting hy... |
ORPHA:2088 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Ataxia, Flexion contracture, Obesity, Choreoathetosis, Bradykinesia, Shuffling gait... |
OMIM:300055 |
| Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity, Hypomagnesemia |
OMIM:616418 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Overgrowth, Polyphagia, Tall stature |
OMIM:300942 |
| Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hypertriglyceridemia |
OMIM:615924 |
| Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Obesity, Truncal obesity, Hyperc... |
ORPHA:96184 |
| Aromatase Deficiency |
|
Eunuchoid habitus, Hyperlipidemia, Insulin resistance, Obesity, Type II diabetes mellitus, Tall s... |
ORPHA:91 |
| Niemann-Pick Disease, Type B |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:607616 |
| Immunodeficiency 61 |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:300310 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
ORPHA:280365 |
| Rafiq Syndrome |
|
Ataxia, Aggressive behavior, Flexion contracture, Obesity, Truncal obesity |
OMIM:614202 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
OMIM:606407 |
| Trisomy 5P |
|
Obesity |
ORPHA:1742 |
| Bardet-Biedl Syndrome 7 |
|
Obesity |
OMIM:615984 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Lipoma, Obesity, Oral-pharyngeal dysphagia |
ORPHA:480907 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98853 |
| Laurence-Moon Syndrome |
|
Ataxia, Obesity |
OMIM:245800 |
| Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... |
ORPHA:3163 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Obesity, Abdominal obesity, Skin-picking, Abnormal temper tantrums, Lethargy, Failure to thrive, ... |
ORPHA:398079 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Impulsivity, Flexion contracture, Increased body weight, Abdominal obesity, Abnormal temper tantr... |
ORPHA:398069 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity, Gait disturbance |
ORPHA:2429 |
| Chung-Jansen Syndrome |
|
Attention deficit hyperactivity disorder, Obesity, Impulsivity, Aggressive behavior |
OMIM:617991 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Polyphagia, Obesity |
ORPHA:251004 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Decreased circulating free fatty acid level, Increased circulating cor... |
ORPHA:79644 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:245900 |
| Cortisone Reductase Deficiency 1 |
|
Obesity |
OMIM:604931 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperlipidemia, Mildly elevated creatine kinase, Hyperglycemia |
OMIM:604484 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Redu... |
OMIM:608594 |
| Summitt Syndrome |
|
Camptodactyly of finger, Obesity, Tall stature |
ORPHA:3210 |
| Laron Syndrome |
|
Hypercholesterolemia, Hypoglycemia, Truncal obesity |
ORPHA:633 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Type II diabetes mellitus, Diabetes mellitus, Small for gestational age, Increased body weight |
OMIM:274300 |
| Baralle-Macken Syndrome |
|
Inability to walk, Obesity |
OMIM:619255 |
| Glycogen Storage Disease Ixc |
|
Hypertriglyceridemia, Hypoglycemia, Fasting hypoglycemia |
OMIM:613027 |
| X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait disturbance |
ORPHA:93952 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Broad-based gait, Increased body weight |
OMIM:614450 |
| Bardet-Biedl Syndrome 4 |
|
Obesity |
OMIM:615982 |
| Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
| Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin-resistant diabetes mellitus, Insulin resistance |
ORPHA:90301 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Obesity, Stereotypical hand wringing |
OMIM:619854 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin ... |
OMIM:613327 |
| Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Overweight, Recurrent hand flapping, Pica, Tall stature |
OMIM:615032 |
| Congenital Myopathy 9A |
|
Obesity, Akinesia |
OMIM:618822 |
| Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Hyperlipidemi... |
OMIM:608612 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
OMIM:603233 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism |
OMIM:613192 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Obesity |
OMIM:619737 |
| Biemond Syndrome Type 2 |
|
Obesity |
ORPHA:141333 |
| Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Ketotic hypoglycemia, I... |
ORPHA:79240 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
| Seckel Syndrome 10 |
|
Hypertriglyceridemia, Diabetes mellitus, Elevated hemoglobin A1c, Impaired glucose tolerance, Ins... |
OMIM:617253 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia |
OMIM:608898 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Elevated hemoglobin A1c... |
OMIM:269700 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Ataxia, Obesity |
ORPHA:459033 |
| Clark-Baraitser Syndrome |
|
Hyperactivity, Obesity, Aggressive behavior |
OMIM:617752 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Incre... |
ORPHA:263455 |
| Bardet-Biedl Syndrome 8 |
|
Obesity |
OMIM:615985 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Obesity |
ORPHA:397973 |
| Hepatic Veno-Occlusive Disease |
|
Increased body weight, Increased total bilirubin |
ORPHA:890 |
| Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
| Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Ataxia, Unsteady gait, Obesity, Difficulty walking |
ORPHA:464282 |
| Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity |
ORPHA:238624 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Glucose intolerance, Impaired glucose tolerance, Obesity |
OMIM:615630 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Obesity |
OMIM:301900 |
| Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant diabetes mellitu... |
OMIM:203800 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Ina... |
ORPHA:98794 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Obesity |
OMIM:619755 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive ma... |
OMIM:618430 |
| Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Failure to thrive, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal... |
ORPHA:98793 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Abnormal circulating lip... |
OMIM:616541 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Insulin resistance, Obesity, Recurrent hypoglycemia |
ORPHA:813 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-picking, Abnormal repe... |
OMIM:600430 |
| Monosomy 13Q34 |
|
Insulin resistance, Hypercalcemia, Obesity |
ORPHA:96168 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Failure to thrive, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal... |
ORPHA:177904 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... |
OMIM:618363 |
| Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentration, Increased... |
ORPHA:264580 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Failure to thrive, Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal... |
ORPHA:177901 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Obesity |
OMIM:614613 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:603552 |
| 48,Xxyy Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Type II diabetes mellitus, Tall stature |
ORPHA:10 |
| Werner Syndrome |
|
Lipoatrophy, Lipodystrophy, Insulin resistance, Type II diabetes mellitus, Slender build, Chondro... |
ORPHA:902 |
| Bdv Syndrome |
|
Type II diabetes mellitus, Hyperinsulinemia, Obesity |
OMIM:619326 |
| Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
| Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Hyperlipidemia, Insulin resistance, Generalized lipodystrophy |
ORPHA:90154 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Small for gestational age, Bulimia, Obesity, Self-injurious behavior, Abnormal temper tantrums, S... |
ORPHA:98754 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Self-m... |
ORPHA:412035 |
| Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
| Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity |
OMIM:617406 |
| Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Increased circulating chylomicron concen... |
ORPHA:444490 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
| Pediatric-Onset Graves Disease |
|
Failure to thrive, Hyperactivity, Polydipsia, Polyphagia |
ORPHA:525731 |
| Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:2233 |
| 7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... |
ORPHA:96121 |
| Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
| Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity |
ORPHA:69663 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Umbilical hernia, Obesity |
ORPHA:1035 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Im... |
OMIM:248370 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Polyphagia, Weight loss |
ORPHA:95427 |
| Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Obesity, Glucose intolerance, Hypokalemia, Abdominal obesity |
OMIM:219090 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Attention deficit hyperactivity disorder, Gait disturbance, Increased body weight, Impulsivity |
ORPHA:589905 |
| Idiopathic Neonatal Atrial Flutter |
|
Maternal diabetes, Large for gestational age |
ORPHA:45452 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Ataxia, Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent ... |
OMIM:156200 |
| Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Obesity, Hyperproteinemia, Increased circula... |
ORPHA:90041 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity |
ORPHA:2183 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
| Microtriplication 11Q24.1 |
|
Hyperlipidemia, Obesity |
ORPHA:289522 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Dorsocervical fat pad, Paradoxical increased cortisol secretion on dexamethasone suppression test... |
ORPHA:189427 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity |
OMIM:618160 |
| Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
| X-Linked Acrogigantism |
|
Increased body mass index, Tall stature, Polyphagia, Ataxia |
ORPHA:300373 |
| Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Obesity |
OMIM:612463 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:300635 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Pica, Obesity, Ataxia, Aggressive behavior |
OMIM:620191 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Glycosuria, Hypophospha... |
OMIM:616026 |
| Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Insulin resistance, Fasting hype... |
ORPHA:769 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity |
ORPHA:352530 |
| Adnp Syndrome |
|
Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper... |
ORPHA:404448 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Hyperalaninemia, Achilles tendon contracture, Elevated circulating creatine kinase concentration,... |
OMIM:615418 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
| Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Tall stature |
OMIM:618089 |
| Prader-Willi Syndrome |
|
Failure to thrive in infancy, Obesity, Self-injurious behavior, Abdominal obesity, Attention defi... |
OMIM:176270 |
| Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hyperlipidemia, Failure to thrive, Hypoglycemia |
ORPHA:369 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Obesity |
ORPHA:254525 |
| Reni Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypoglycemia |
OMIM:617575 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Ataxia, Aggressive behavior, Obesity, Skin-picking, Abnormal temper tantrums, Self... |
ORPHA:163681 |
| Glycogen Storage Disease Iii |
|
Hyperlipidemia, Hypoglycemia, Elevated circulating creatine kinase concentration |
OMIM:232400 |
| Weaver Syndrome |
|
Inguinal hernia, Overgrowth, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Poly... |
OMIM:277590 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:613101 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Panniculitis |
OMIM:618398 |
| Atkin-Flaitz Syndrome |
|
Obesity |
ORPHA:1193 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... |
OMIM:267700 |
| Immunodeficiency 109 With Lymphoproliferation |
|
Hypertriglyceridemia |
OMIM:620282 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Elevated circulating creatine kinase concentration, Increased circulat... |
ORPHA:26793 |
| Wilson-Turner Syndrome |
|
Truncal obesity |
ORPHA:3459 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Unsteady gait, Dysmetria, Truncal obesity, Flexion contractu... |
ORPHA:3041 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hypertriglyceridemia, Lipodystrophy, Flexion contracture, Panniculitis, Failure to thrive |
OMIM:617591 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity |
OMIM:615633 |
| Donohue Syndrome |
|
Adipose tissue loss, Hyperinsulinemia, Fasting hypoglycemia, Severe failure to thrive, Hyperglyce... |
OMIM:246200 |
| Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Failure to thrive in infancy, Obesity |
ORPHA:819 |
| Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
| Wagr Syndrome |
|
Obesity |
ORPHA:893 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Broad-based gait, Aggressive behavior, Polyphagia, Self-mutilation |
ORPHA:251028 |
| Bardet-Biedl Syndrome 19 |
|
Obesity |
OMIM:615996 |
| X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
| Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Umbilical hernia, Obesity |
ORPHA:171839 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Small for gestational age, Increased body mass index, Gait disturbance, Truncal obesity |
OMIM:300957 |
| Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aggressive behavior, Disproportionate tall stature, Abdominal obesity, Attention deficit hyperact... |
OMIM:301039 |
| Clark-Baraitser syndrome |
|
Obesity, Tall stature |
OMIM:300602 |
| Pseudopseudohypoparathyroidism |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
ORPHA:79445 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Obesity, Tall stature |
ORPHA:85325 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Obesity, Aggressive behavior |
OMIM:619056 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity |
OMIM:601794 |
| Adrenocortical Carcinoma |
|
Diabetes mellitus, Paradoxical increased cortisol secretion on dexamethasone suppression test, In... |
ORPHA:1501 |
| Joubert Syndrome 32 |
|
Ataxia, Tall stature, Large for gestational age |
OMIM:617757 |
| Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Truncal obesity, Decreased... |
OMIM:270450 |
| Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615947 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:363741 |
| Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Insulin resistance, Obesity, Truncal obesity, Abdominal obesity |
OMIM:209900 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity |
OMIM:618821 |
| Xp22.13P22.2 Duplication Syndrome |
|
Truncal obesity, Congenital diaphragmatic hernia, Umbilical hernia, Attention deficit hyperactivi... |
ORPHA:284180 |
| Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Hypokalemia, Hyperaldo... |
ORPHA:508 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
| Chylomicron Retention Disease |
|
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Hyperinsulinemia, Elevated circulating creatinine concentration... |
ORPHA:230 |
| Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Camptodactyly of toe, Umbilical hernia, Hyperglycemia, Joint contracture of the ... |
OMIM:175700 |
| Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Gait ataxia, Hyperactivity, Abdominal obesity, Aggressive behavior |
OMIM:300354 |
| 9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
| Prader-Willi Syndrome |
|
Abdominal obesity, Failure to thrive, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:739 |
| Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Obesity, Gait imbalance, Attention deficit hyperactivit... |
OMIM:619312 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Inguinal hernia, Overgrowth, Large for gestational age |
OMIM:618272 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Hyperlipidemia, Flexion contracture |
ORPHA:90153 |
| Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
| Angelman Syndrome |
|
Hyperactivity, Broad-based gait, Ataxia, Obesity, Progressive gait ataxia, Paroxysmal bursts of l... |
OMIM:105830 |
| 15Q24 Microdeletion Syndrome |
|
Small for gestational age, Congenital diaphragmatic hernia, Obesity, Hernia, Failure to thrive |
ORPHA:94065 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Obesity, Attention deficit hyperactivity disorder |
ORPHA:261222 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Abdominal obesity, Small for gestational age |
OMIM:300869 |
| Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
| Carpenter Syndrome |
|
Umbilical hernia, Obesity |
ORPHA:65759 |
| Megalencephaly |
|
Truncal obesity |
ORPHA:2477 |
| Werner Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Elevated hemoglobin A1c |
OMIM:277700 |
| Pseudohypoparathyroidism Type 1C |
|
Enamel hypoplasia, Polyphagia, Obesity |
ORPHA:79444 |
| Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Hyperactivity, Decreased body weight, Obesity, Dysphagia |
ORPHA:589821 |
| Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Flexion contracture of toe, Obesity |
ORPHA:3409 |
| Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Bruxism, Obesity, Truncal obesity, Compulsive beha... |
OMIM:615873 |
| Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hypoalbuminemia |
OMIM:619013 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Choreoathetosis, Attention deficit hyperactivity disord... |
ORPHA:261197 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ... |
ORPHA:158057 |
| Perrault Syndrome 4 |
|
Disproportionate tall stature, Obesity, Gait ataxia |
OMIM:615300 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Hyperglycemia, Failure to thrive, Hypoglycemia, Hyperammonemia |
OMIM:615453 |
| Bloom Syndrome |
|
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ... |
ORPHA:125 |
| Neutral Lipid Storage Myopathy |
|
Diabetes mellitus, Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration |
ORPHA:98908 |
| Pseudohypoparathyroidism, Type Ic |
|
Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia |
OMIM:612462 |
| Craniopharyngioma |
|
Polyphagia, Obesity |
ORPHA:54595 |
| 48,Xxxy Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Type II diabetes mellitus, Tall stature |
ORPHA:96263 |
| H Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Hernia, Camptodactyly |
ORPHA:168569 |
| Whipple Disease |
|
Hyponatremia, Insulin resistance, Cachexia |
ORPHA:3452 |
| Pseudohypoparathyroidism Type 1A |
|
Choreoathetosis, Enamel hypoplasia, Polyphagia, Obesity |
ORPHA:79443 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Obesity |
ORPHA:2180 |
| Citrullinemia, Type Ii, Adult-Onset |
|
Elevated plasma citrulline, Hypertriglyceridemia, Hyperargininemia, Hyperammonemia |
OMIM:603471 |
| Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Broad-based gait, Inguinal hernia, Camptodactyly of finger, Cachexia, Aggressive b... |
ORPHA:85293 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Tatton-Brown-Rahman Syndrome |
|
Umbilical hernia, Obesity, Proportionate tall stature, Aggressive behavior |
ORPHA:404443 |
| Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Obesity, Abnormal circulating creatine kinase concentration |
ORPHA:98907 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cyanosis, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Polydipsia... |
ORPHA:293987 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Overweight |
OMIM:300888 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Ataxia, Overweight, Inability to walk, Obesity, Agitation, Dysphagia, Enamel hypoplasia, Decrease... |
OMIM:619229 |
| Cole Disease |
|
Hyperglycemia, Abnormal blood phosphate concentration |
OMIM:615522 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Failure to thrive, Obesity |
OMIM:610543 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Recurrent hand flapping, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:619680 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia |
ORPHA:254534 |
| Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
| White-Sutton Syndrome |
|
Waddling gait, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, Self... |
OMIM:616364 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Overgrowth, Obesity, Aggressive behavior |
OMIM:620250 |
| Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Flexion contracture, Hyperg... |
OMIM:609069 |
| Joubert Syndrome 8 |
|
Ataxia, Obesity |
OMIM:612291 |
| Pseudohypoparathyroidism, Type Ia |
|
Hypocalcemic tetany, Enamel hypoplasia, Hyperphosphatemia, Obesity |
OMIM:103580 |
| Gitelman Syndrome |
|
Maternal diabetes, Insulin resistance, Hypermagnesemia, Glucose intolerance, Hypokalemia, Diabeti... |
ORPHA:358 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... |
OMIM:603553 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Ataxia, Inability to walk, Unsteady gait, Obesity, Compulsive behaviors |
OMIM:618443 |
| 2Q37 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Compulsive be... |
ORPHA:1001 |
| Down Syndrome |
|
Type II diabetes mellitus, Umbilical hernia, Obesity |
ORPHA:870 |
| Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hypouricemia, Hypophosphatemia, Glycosuria, Hypokalemia, Hyp... |
OMIM:227810 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Primary hypercortisolism, Truncal obesity, Increased circulating cortisol level, Paradoxical incr... |
OMIM:610475 |
| Septo-Optic Dysplasia Spectrum |
|
Obesity, Maternal diabetes |
ORPHA:3157 |
| 19P13.12 Microdeletion Syndrome |
|
Arthrogryposis multiplex congenita, Hyperlipidemia, Obesity |
ORPHA:254346 |
| Glycerol Kinase Deficiency |
|
Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia, Hypoglycemia |
OMIM:307030 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Obesity |
ORPHA:464288 |
| Hypokalemic Periodic Paralysis |
|
Postprandial hyperglycemia, Episodic hypokalemia, Mildly elevated creatine kinase |
ORPHA:681 |
| Wilson Disease |
|
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Difficulty walking, Fail... |
ORPHA:905 |
| Senior-Loken Syndrome 9 |
|
Obesity |
OMIM:616629 |
| 1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Widened atrophic scar, Diabetes mellitus, Hypertriglyceridemia, ... |
ORPHA:536532 |
| Gangliocytoma |
|
Polyphagia |
ORPHA:251937 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Overweight, Inability to walk, Obesity, Gait disturbance, Dysphagia |
ORPHA:2822 |
| Cornelia De Lange Syndrome 5 |
|
Truncal obesity |
OMIM:300882 |
| Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Inability to walk, Unsteady gait, Elbow flexion contracture, Obesity |
OMIM:618493 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb... |
ORPHA:247353 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Waddling gait, Obesity |
ORPHA:174 |
| Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Obesity |
OMIM:615994 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Decreased HDL cholesterol concentration, Flexion contracture of finger, Hypertriglyceridemia, Imp... |
OMIM:256040 |
| Macrocephaly/Autism Syndrome |
|
Overgrowth, Obesity, Large for gestational age |
OMIM:605309 |
| Necrotizing Enterocolitis |
|
Hyponatremia, Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis |
ORPHA:391673 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Polyphagia, Obesity, Self-injurious behavior, Gait disturbance, Dysphagi... |
ORPHA:1606 |
| Joubert Syndrome 37 |
|
Obesity |
OMIM:619185 |
| Methanol Poisoning |
|
Type I diabetes mellitus, Hyperlipidemia, Type II diabetes mellitus |
ORPHA:31825 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Insulin resistance, Failure to thrive, Small for gestational age, Fasting hypoglycemia |
ORPHA:96182 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hypoglycemia, Failure to thrive, Neonatal hyp... |
OMIM:619418 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Tip-toe gait, Spastic gait, Obesity |
OMIM:617296 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Increased body weight, Aggressive behavior |
OMIM:300860 |
| Atypical Werner Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Lipoatrophy, Insulin-resistant diabetes mellitus, Fastin... |
ORPHA:79474 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Type I diabetes mellitus, Dentinogenesis imperfecta, Obesity |
OMIM:619269 |
| Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
| Kleefstra Syndrome 1 |
|
Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior |
OMIM:610253 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Obesity |
OMIM:194072 |
| White-Sutton Syndrome |
|
Ventral hernia, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behav... |
ORPHA:468678 |
| Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir... |
ORPHA:158061 |
| Achondroplasia |
|
Hypoxemia, Obesity |
ORPHA:15 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Primary hypercortisolism, Truncal obesity, Increased circulating cortisol level |
OMIM:219080 |
| Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
| Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... |
ORPHA:79102 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Increased circulating ferritin concentration, Elevated transferrin saturation,... |
ORPHA:465508 |
| Peripartum Cardiomyopathy |
|
Diabetes mellitus, Obesity |
ORPHA:563 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hypoglycemia, Hyperlipidemia, Hypoglycemic seizures, Xanthelasma, Hyperuric... |
ORPHA:79259 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Broad-based gait, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious beha... |
OMIM:620330 |
| Momo Syndrome |
|
Overgrowth, Obesity, Tall stature, Large for gestational age |
ORPHA:2563 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Flexion contracture, Gait distur... |
ORPHA:500055 |
| 8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Weight loss |
ORPHA:251071 |
| Desbuquois Dysplasia 1 |
|
Waddling gait, Obesity |
OMIM:251450 |
| Rabin-Pappas Syndrome |
|
Hyponatremia, Overgrowth, Obesity, Failure to thrive in infancy |
OMIM:620155 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Primary hypercortisolism, Truncal obesity, Increased circulating cortisol level, Paradoxical incr... |
OMIM:610489 |
| Kleefstra Syndrome |
|
Aggressive behavior, Obesity, Self-injurious behavior, Hernia, Abnormal repetitive mannerisms, Se... |
ORPHA:261494 |
| Ring Chromosome Y Syndrome |
|
Obesity |
ORPHA:261529 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia |
ORPHA:540 |
| Pde4D Haploinsufficiency Syndrome |
|
Abnormal dental enamel morphology, Obesity |
ORPHA:439822 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Obesity |
ORPHA:369837 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Unsteady gait, Ataxia, Obesity |
OMIM:614947 |
| Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Hyperammonemia, Weight loss, Hyperuricemia, Hyperglycemia |
ORPHA:134 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Failure to thrive, Femoral hernia, Obesity |
ORPHA:96147 |
| Adiposis Dolorosa |
|
Obesity |
ORPHA:36397 |
| Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619802 |
| Momo Syndrome |
|
Overgrowth, Obesity |
OMIM:157980 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Camptodactyly of toe, Truncal obesity |
ORPHA:127 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint contracture, Glycosur... |
ORPHA:99885 |
| Carpenter Syndrome 1 |
|
Omphalocele, Obesity, Camptodactyly, Umbilical hernia, Joint contracture of the hand |
OMIM:201000 |
| Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Increased circulating ferritin concentration, Hypertriglyceridemia |
OMIM:619313 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Aggressive behavior, Obesity, Camptodactyly, Dysphagia, Polyphagia, Self... |
OMIM:607872 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity |
OMIM:618395 |
| Müllerian Aplasia And Hyperandrogenism |
|
Obesity |
ORPHA:247768 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Elevated hemoglobin A1c, Flexion contracture, Generalized lipodystrophy, Gl... |
OMIM:619127 |
| Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
| Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
| Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Cachexia, Hyperkalemia, Weight loss, Xanthelasma, Steatorrhea... |
ORPHA:275761 |
| Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Obesity |
ORPHA:91355 |
| Pyruvate Carboxylase Deficiency |
|
Hypoglutaminemia, Increased serum pyruvate, Failure to thrive, Hyperglutamatemia, Hypoglycemia, H... |
ORPHA:3008 |
| Sotos Syndrome |
|
Tall stature, Increased body weight, Glucose intolerance, Overgrowth, Neonatal hypoglycemia |
OMIM:117550 |
| Cushing Disease |
|
Diabetes mellitus, Impaired glucose tolerance, Paradoxical increased cortisol secretion on dexame... |
ORPHA:96253 |
| Isolated Sedoheptulokinase Deficiency |
|
Inguinal hernia, Flexion contracture, Steatorrhea, Postprandial hyperglycemia, Arthrogryposis mul... |
ORPHA:440713 |
| Bardet-Biedl Syndrome |
|
Obesity |
ORPHA:110 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity |
ORPHA:3224 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperacti... |
OMIM:616078 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy |
ORPHA:363618 |
| Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:261476 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Broad-based gait, Aggressive behavior, Tongue thrusting, Obesity, Compulsive behaviors, Failure t... |
ORPHA:369950 |
| Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Small for gestational age |
OMIM:256300 |
| Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:603278 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Aggressive behavior, Obesity, Self-injurious behavior, Truncal obesity, Attention deficit hyperac... |
ORPHA:466950 |
| 3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Obesity |
ORPHA:251038 |
| Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
| Mitchell-Riley Syndrome |
|
Hyperglycemia, Diabetes mellitus, Hyperbilirubinemia |
OMIM:615710 |
| Cholestasis-Lymphedema Syndrome |
|
Conjugated hyperbilirubinemia, Hyperlipidemia |
OMIM:214900 |
| Cholestasis-Lymphedema Syndrome |
|
Multiple lipomas, Hyperlipidemia |
ORPHA:1414 |
| Webb-Dattani Syndrome |
|
Hypernatremia, Obesity |
OMIM:615926 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Umbilical hernia, Hypoglycemia, Obesity |
OMIM:301066 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus |
OMIM:210720 |
| Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hyperglycemia |
ORPHA:90065 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Obesity |
ORPHA:2235 |
| Kallmann Syndrome |
|
Ataxia, Obesity, Gait disturbance |
ORPHA:478 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Abnormal repetitive mannerisms, Obesity, Difficulty walking |
OMIM:618653 |
| Dend Syndrome |
|
Hyperglycemia, Elevated hemoglobin A1c |
ORPHA:79134 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia |
OMIM:618183 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
| Distal Deletion 12Q |
|
Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the young, Elbow flex... |
ORPHA:96149 |
| Prader-Willi Syndrome Due To Translocation |
|
Obesity, Head-banging, Abnormal temper tantrums, Skin-picking, Compulsive behaviors, Attention de... |
ORPHA:177907 |
| Cohen Syndrome |
|
Small for gestational age, Childhood-onset truncal obesity |
OMIM:216550 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Restrictive behavior, Hyperactivity, Broad-based gait, Ataxia, Failure to thrive, Impulsivity, Ag... |
OMIM:619475 |
| Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Hernia of the abdominal wall, Obesity |
ORPHA:3138 |
| Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Obesity |
OMIM:619471 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Diabetes mellitus, Obesity |
OMIM:614231 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity |
ORPHA:319675 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperactivity disorder, ... |
ORPHA:466943 |
| Bardet-Biedl Syndrome 12 |
|
Obesity |
OMIM:615989 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipoatrophy, Camptodactyly of finger, ... |
ORPHA:3455 |
| Carnitine Palmitoyltransferase Ii Deficiency |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:157 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Inguinal hernia, Hypoglycemia, Neonatal hypoglycemia, Elevated circulating alpha-fet... |
ORPHA:116 |
| Cohen Syndrome |
|
Failure to thrive in infancy, Obesity |
ORPHA:193 |
| Xq21 Microdeletion Syndrome |
|
Dysdiadochokinesis, Ataxia, Obesity, Gait ataxia |
ORPHA:1435 |
| Chédiak-Higashi Syndrome |
|
Hyponatremia, Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia |
ORPHA:167 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Limb joint contracture, Ataxia, Flexion contracture, Truncal obesity, Truncal ataxia |
OMIM:301072 |
| Perlman Syndrome |
|
Hypoglycemia, Congenital diaphragmatic hernia, Large for gestational age |
OMIM:267000 |
| Aapoaiv Amyloidosis |
|
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatinine concentration |
ORPHA:439232 |
| Glycogen Storage Disease Ia |
|
Hypoglycemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Fasting hypoglycemia |
OMIM:232200 |
| Diamond-Blackfan Anemia 21 |
|
Obesity |
OMIM:620072 |
| Xylt1-Cdg |
|
Truncal obesity |
ORPHA:370930 |
| Steinert Myotonic Dystrophy |
|
Hypercholesterolemia, Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:273 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Inguinal hernia, Diabetes mellitus, Congenital diaphragmatic hernia, Aplasia of the left hemidiap... |
OMIM:600001 |
| Immunodeficiency 87 And Autoimmunity |
|
Hypokalemia, Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive pro... |
OMIM:619573 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Truncal obesity, Attention deficit hyperactivity disorder |
ORPHA:2637 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Small for gestational age, Lipoatrophy... |
OMIM:264090 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia |
ORPHA:158048 |
| Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Insulin resistance, Absence of subcutaneous fat, Weight loss |
ORPHA:740 |
| Chops Syndrome |
|
Obesity |
OMIM:616368 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Elevated circulating creatine kinase concentration, Elevated circulating acylcarnitine concentrat... |
ORPHA:228308 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Obesity |
OMIM:250420 |
| Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling, Obesity, Bruxism, Umbilical hernia |
ORPHA:48652 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... |
ORPHA:353281 |
| Alagille Syndrome 1 |
|
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia |
OMIM:118450 |
| Desbuquois Dysplasia 2 |
|
Truncal obesity |
OMIM:615777 |
| Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
| Joubert Syndrome 39 |
|
Overweight, Joint contracture of the 5th finger |
OMIM:619562 |
| 6Q Terminal Deletion Syndrome |
|
Failure to thrive, Obesity, Dysmetria, Gait ataxia |
ORPHA:75857 |
| Lysinuric Protein Intolerance |
|
Hypolysinemia, Increased circulating ferritin concentration, Hyperammonemia, Truncal obesity, Fai... |
OMIM:222700 |
| White-Kernohan Syndrome |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:619426 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Diabetes mellitus, Impaired glucose tolerance, Paradoxical increased cortisol secretion on dexame... |
ORPHA:99889 |
| Kabuki Syndrome |
|
Failure to thrive, Obesity, Congenital diaphragmatic hernia |
ORPHA:2322 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hyperglycemia, Obesity |
ORPHA:444077 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Obesity, Hypocapnia |
ORPHA:70591 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Hypertyrosinemia, Hypoglycemia, Recurrent hypoglycemia, Hyperglycemia, Failure to thrive |
OMIM:124000 |
| Myhre Syndrome |
|
Small for gestational age, Ataxia, Obesity, Camptodactyly |
OMIM:139210 |
| Glycogen Storage Disease Ib |
|
Xanthelasma, Hyperlipidemia, Hypoglycemia, Hyperuricemia |
OMIM:232220 |
| 17Q24.2 Microdeletion Syndrome |
|
Truncal obesity, Failure to thrive in infancy, Aggressive behavior |
ORPHA:529962 |
| Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hyperlipidemia, Increased LDL chol... |
ORPHA:77293 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Failure to thrive in infancy, Hyperinsulinemia, Obesity, Atypical scarring of skin, Glucose intol... |
ORPHA:99413 |
| Turner Syndrome |
|
Failure to thrive in infancy, Hyperinsulinemia, Obesity, Atypical scarring of skin, Glucose intol... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Failure to thrive in infancy, Hyperinsulinemia, Obesity, Atypical scarring of skin, Glucose intol... |
ORPHA:99228 |
| Monosomy X |
|
Failure to thrive in infancy, Hyperinsulinemia, Obesity, Atypical scarring of skin, Glucose intol... |
ORPHA:99226 |
| 22Q11.2 Deletion Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Attention deficit hyperactivity diso... |
ORPHA:567 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal... |
ORPHA:353277 |
| Tako-Tsubo Cardiomyopathy |
|
Obesity, Mildly elevated creatine kinase, Abnormal B-type natriuretic peptide concentration |
ORPHA:66529 |
| Meningioma |
|
Ataxia, Obesity, Difficulty walking |
ORPHA:2495 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Azotemia, Abdominal obesity, Flexion contracture |
OMIM:619321 |
| Rubinstein-Taybi Syndrome 1 |
|
Hyperactivity, Small for gestational age, Impulsivity, Unsteady gait, Flexion contracture, Trunca... |
OMIM:180849 |
| Williams-Beuren Syndrome |
|
Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Hypercalcemia, Flexion contract... |
OMIM:194050 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hyperlipidemia, Diabetes mellitus, Elevated circulating creatine kinase concentration |
ORPHA:565612 |
| Alström Syndrome |
|
Ataxia, Dorsocervical fat pad, Obesity, Truncal obesity, Polyphagia |
ORPHA:64 |
| Parenteral Nutrition-Associated Cholestasis |
|
Conjugated hyperbilirubinemia, Hyperlipidemia, Small for gestational age, Abnormal circulating fa... |
ORPHA:567983 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Small for gestational age, Hypoglycemia, Hyperammonemia, Hyperglycemia, Failure ... |
OMIM:220111 |
| Pmm2-Cdg |
|
Multiple joint contractures, Lipodystrophy, Insulin resistance, Reduced thyroxin-binding globulin... |
ORPHA:79318 |
| Glycogen Storage Disease Ic |
|
Xanthelasma, Hyperlipidemia, Hypoglycemia, Hyperuricemia |
OMIM:232240 |
| Witteveen-Kolk Syndrome |
|
Inguinal hernia, Small for gestational age, Congenital diaphragmatic hernia, Obesity, Contracture... |
OMIM:613406 |
| Williams Syndrome |
|
Inguinal hernia, Ataxia, Failure to thrive in infancy, Abnormal dental enamel morphology, Obesity... |
ORPHA:904 |
| Scorpion Envenomation |
|
Increased circulating NT-proBNP concentration, Increased circulating creatine kinase MB isoform, ... |
ORPHA:466677 |
| Carpenter Syndrome 2 |
|
Umbilical hernia, Obesity, Camptodactyly, Knee flexion contracture |
OMIM:614976 |
| Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Failure to thrive, Obesity |
OMIM:617157 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Obesity |
ORPHA:1772 |
| Ulnar-Mammary Syndrome |
|
Inguinal hernia, Elbow flexion contracture, Obesity |
OMIM:181450 |
| Primrose Syndrome |
|
Restlessness, Hip contracture, Ataxia, Aggressive behavior, Flexion contracture, Knee flexion con... |
OMIM:259050 |
| Digeorge Syndrome |
|
Inguinal hernia, Femoral hernia, Obesity, Attention deficit hyperactivity disorder, Umbilical hernia |
OMIM:188400 |
| Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Hyperlipidemia, Elevated circulating creatinine concentration, Increased blood urea nitrogen |
OMIM:235400 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Self-injurious behavior, Truncal obesity, Camptodactyly, Failure to thrive, Abnormal repetitive m... |
OMIM:612474 |
| Woodhouse-Sakati Syndrome |
|
Insulin-resistant diabetes mellitus, Hyperlipidemia, Hyperinsulinemia |
ORPHA:3464 |
| Woodhouse-Sakati Syndrome |
|
Hyperlipidemia, Diabetes mellitus |
OMIM:241080 |
| Carney Complex |
|
Dorsocervical fat pad, Increased body weight, Increased circulating cortisol level, Abdominal obe... |
ORPHA:1359 |
| Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Truncal obesity, Compulsive behaviors, Attention deficit hyperac... |
ORPHA:199 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hyperactivity, Paroxysmal bursts of laughter, Obesity |
OMIM:309580 |
| Pallister-Killian Syndrome |
|
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Inability to walk, Flexion contrac... |
OMIM:601803 |
