Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Delayed puberty, Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1 |
ORPHA:140941 |
Type 2 Diabetes Mellitus |
|
Insulin resistance, Increased waist to hip ratio, Type II diabetes mellitus |
OMIM:125853 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Obesity, Maturity-onset diabetes of the young, Overweight |
OMIM:613375 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... |
OMIM:609968 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Large fo... |
OMIM:256450 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Large for gestational age, Hypoketotic hypoglycemia... |
ORPHA:293964 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestati... |
OMIM:601820 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... |
OMIM:610021 |
Diabetes Mellitus, Transient Neonatal, 2 |
|
Type II diabetes mellitus, Transient neonatal diabetes mellitus |
OMIM:610374 |
Hyperinsulinism Due To Insr Deficiency |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia, Recurrent hypoglycemia, Insulin resistance, Fasting ... |
ORPHA:263458 |
Hyperproinsulinemia |
|
Hyperinsulinemia, Hyperglycemia |
OMIM:616214 |
Obesity |
|
Obesity, Increased waist to hip ratio |
OMIM:601665 |
Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue, Obesity, Type II dia... |
ORPHA:71529 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Large for gestational age, Neonatal hypoglycemia, Fasting hypoglycemia, Hypoinsulinemia, Obesity,... |
OMIM:240900 |
Cortisone Reductase Deficiency 2 |
|
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Obesity, Premature... |
OMIM:614662 |
Insulin Autoimmune Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... |
ORPHA:411593 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Multiple Symmetric Lipomatosis |
|
Insulin resistance, Multiple lipomas, Abnormal adipose tissue morphology |
ORPHA:2398 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Body Mass Index Quantitative Trait Locus 20 |
|
Tall stature, Hyperinsulinemia, Obesity |
OMIM:618406 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
ORPHA:171706 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Hypoketotic hypoglycemia, Type II diabetes mellitus, Recurrent hypoglycemia, Hyperinsulinemic hyp... |
ORPHA:79299 |
Diabetes Mellitus, Ketosis-Prone |
|
Insulin resistance, Diabetes mellitus, Beta-cell dysfunction |
OMIM:612227 |
Obesity And Hypopigmentation |
|
Obesity, Hyperinsulinemia, Overgrowth |
OMIM:620195 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Obesity, Hyperinsulinemia |
ORPHA:329249 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglycemia, Abnormality of the pancr... |
OMIM:606762 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Delayed puberty, Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Hy... |
ORPHA:71526 |
Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:613370 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... |
OMIM:147630 |
Body Mass Index Quantitative Trait Locus 19 |
|
Increased serum leptin, Insulin resistance, Obesity, Hyperinsulinemia |
OMIM:617885 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Hyperglycemia, Transient neonatal diabetes mellitus |
OMIM:601410 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity |
DECIPHER:53 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... |
OMIM:620058 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Diabetes mellitus |
OMIM:608320 |
Plin1-Related Familial Partial Lipodystrophy |
|
Lipoatrophy, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue, Abnormal circulating ... |
ORPHA:280356 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hyperinsulinemia |
OMIM:606528 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... |
ORPHA:324575 |
Hypoglycemia, Leucine-Induced |
|
Hyperinsulinemic hypoglycemia, Hypoglycemia |
OMIM:240800 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Increased body weight, Hyperins... |
ORPHA:276608 |
Transient Neonatal Diabetes Mellitus |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hypothyroidism, Failure... |
ORPHA:99886 |
Akt2-Related Familial Partial Lipodystrophy |
|
Decreased serum leptin, Increased intraabdominal fat, Lipodystrophy, Decreased adiponectin level,... |
ORPHA:79085 |
Obesity Due To Sim1 Deficiency |
|
Obesity, Hyperinsulinemia, Glucose intolerance |
ORPHA:369873 |
Lipodystrophy, Familial Partial, Type 3 |
|
Hyperinsulinemia, Maternal diabetes, Loss of gluteal subcutaneous adipose tissue, Loss of subcuta... |
OMIM:604367 |
Bardet-Biedl Syndrome 11 |
|
Obesity |
OMIM:615988 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia |
ORPHA:35878 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Maternal diabetes, Diffuse pa... |
ORPHA:276580 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Mody |
|
Large for gestational age, Neonatal hypoglycemia, Hypoinsulinemia, Abnormal circulating insulin c... |
ORPHA:552 |
Morbid Obesity And Spermatogenic Failure |
|
Insulin resistance, Obesity, Type II diabetes mellitus |
OMIM:615703 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Lipodystrophy, Familial Partial, Type 4 |
|
Lipoatrophy, Insulin resistance, Lipodystrophy, Insulin-resistant diabetes mellitus |
OMIM:613877 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hyperinsulinemia, Fasting hypoglycemia, Small for gestational age, Precocious puberty, Hyperglyce... |
OMIM:262190 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism |
OMIM:307500 |
Proprotein Convertase 1/3 Deficiency |
|
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... |
OMIM:600955 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemia, Diffuse pancreatic islet hype... |
ORPHA:276575 |
Obesity Due To Congenital Leptin Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... |
ORPHA:66628 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the neck, Loss of su... |
OMIM:608600 |
Glycogen Storage Disease 0, Liver |
|
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia |
OMIM:240600 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the neck, Decreased ... |
ORPHA:435660 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... |
OMIM:620211 |
Bdv Syndrome |
|
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... |
OMIM:619326 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... |
ORPHA:79506 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of the ovary, Decreased se... |
ORPHA:179494 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... |
ORPHA:79644 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... |
OMIM:616033 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Lipodystrophy, Insulin resistance... |
OMIM:612526 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Diabetes mellitus, Lipodystrophy, Abdominal obesity |
OMIM:615980 |
Diabetes Mellitus, Permanent Neonatal, 4 |
|
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia, Small for gestational age |
OMIM:618858 |
Insulinoma |
|
Hyperinsulinemia, Neoplasm of the adrenal gland, Increased body weight, Primary hyperparathyroidi... |
ORPHA:97279 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hypoglycemic seizures, Large for gestational age, Diffuse pancreatic islet hyperplasia, Hypoketot... |
ORPHA:276556 |
Maturity-Onset Diabetes Of The Young, Type 13 |
|
Maturity-onset diabetes of the young, Maternal diabetes, Hyperglycemia, Abnormality of body mass ... |
OMIM:616329 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... |
OMIM:615954 |
Pancreatic Lipase Deficiency |
|
Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Bardet-Biedl Syndrome 10 |
|
Obesity, Hypogonadism |
OMIM:615987 |
Acquired Partial Lipodystrophy |
|
Lipoatrophy, Insulin resistance |
ORPHA:79087 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Diabetes Mellitus, Permanent Neonatal, 1 |
|
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia, Small for gestational age |
OMIM:606176 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
OMIM:619755 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
Osteogenesis Imperfecta, Type Xxiii |
|
Insulin resistance, Truncal obesity |
OMIM:620639 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Hypogonadism |
OMIM:614962 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hypoglycemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:232700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Bardet-Biedl Syndrome 2 |
|
Obesity, Diabetes mellitus, Hypogonadism |
OMIM:615981 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of gluteal subcutaneous adipose tissue, Loss of subcutaneous adipose tissue in limbs, Decrea... |
ORPHA:435651 |
Bardet-Biedl Syndrome 5 |
|
Obesity, Hypogonadism |
OMIM:615983 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... |
OMIM:274300 |
Syndromic X-Linked Intellectual Disability 7 |
|
Obesity, Hypogonadism |
ORPHA:85274 |
Mandibuloacral Dysplasia |
|
Lipoatrophy, Hyperinsulinemia, Loss of subcutaneous adipose tissue in limbs, Increased adipose ti... |
ORPHA:2457 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hyperinsulinemia, Increased intramuscular fat, Loss of truncal subcutaneous adipose tissue, Loss ... |
OMIM:151660 |
Insulin-Resistance Syndrome Type B |
|
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Increased serum testosterone level, Fasting hypo... |
ORPHA:2298 |
Estrogen Resistance |
|
Delayed puberty, Increased circulating osteocalcin level, Hyperinsulinemia, Impaired glucose tole... |
OMIM:615363 |
Hernández-Aguirre Negrete Syndrome |
|
Delayed puberty, Obesity |
ORPHA:2139 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hyperinsulinemia, Generalized lipodystrophy, Reduced subcutaneous adipose tissue, Reduced intraab... |
ORPHA:363400 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Elevated circulating growth hormone concentration, Insulin-resistant diabetes... |
ORPHA:90301 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-re... |
OMIM:300888 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Decreased serum leptin, Lipodystrophy, Decreased adiponectin level |
OMIM:615238 |
Diabetes Mellitus, Transient Neonatal, 3 |
|
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus |
OMIM:610582 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Type I diabetes mellitus, Hyperglycemia, Flexion contracture |
OMIM:618856 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Hypoketotic hypoglycemia, Fas... |
ORPHA:263455 |
Estrogen Resistance Syndrome |
|
Absence of secondary sex characteristics, Tall stature, Hyperinsulinemia, Abnormal circulating ho... |
ORPHA:785 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity |
OMIM:264120 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Childhood-onset truncal obesity, Truncal obesity |
OMIM:610156 |
Leptin Receptor Deficiency |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Pituitary hypothyroidism,... |
OMIM:614963 |
Adiposis Dolorosa |
|
Painful subcutaneous lipomas, Obesity |
OMIM:103200 |
Perlman Syndrome |
|
Femoral hernia, Hyperinsulinemia, Inguinal hernia, Tall stature |
ORPHA:2849 |
Congenital Generalized Lipodystrophy |
|
Hyperinsulinemia, Precocious puberty in females, Failure to thrive, Proportionate tall stature, A... |
ORPHA:528 |
Mehmo Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Obesity, Hypoglycemia, Ma... |
OMIM:300148 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Absence of pubertal development, Obesity, Diabetes mellitus, Hypogonadotropic hypogonadism |
OMIM:610628 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Diabetes Mellitus, Permanent Neonatal, 3 |
|
Glycosuria, Type I diabetes mellitus, Hyperglycemia, Small for gestational age |
OMIM:618857 |
Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... |
ORPHA:94086 |
Non-Acquired Isolated Growth Hormone Deficiency |
|
Delayed puberty, Abdominal obesity, Neonatal hypoglycemia, Anterior hypopituitarism |
ORPHA:631 |
Chylomicron Retention Disease |
|
Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... |
OMIM:246700 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Male hypogonadism, Loss of subcutaneous adipose tissue in limbs, Joint contracture, Lipodystrophy... |
OMIM:615381 |
Mehmo Syndrome |
|
Obesity, Diabetes mellitus |
ORPHA:85282 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Obesity, Inguinal hernia |
OMIM:300209 |
Donohue Syndrome |
|
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Precocious puberty, Hyperglycem... |
OMIM:246200 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... |
OMIM:608612 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Hypoglycemic seizures, Decreased response to growth hormone stimulation test, Decreased growth ho... |
OMIM:609734 |
Galactokinase Deficiency |
|
Hyperinsulinemia, Hypergonadotropic hypogonadism, Failure to thrive, Hypoglycemia, Small for gest... |
ORPHA:79237 |
Temple Syndrome |
|
Decreased response to growth hormone stimulation test, Precocious puberty, Obesity, Type II diabe... |
ORPHA:254516 |
Bangstad Syndrome |
|
Hyperinsulinemia, Hypothyroidism, Primary gonadal insufficiency, Abnormality of the parathyroid g... |
ORPHA:1227 |
Narcolepsy 7 |
|
Obesity, Type II diabetes mellitus |
OMIM:614250 |
Short Stature, Dauber-Argente Type |
|
Fasting hyperinsulinemia |
OMIM:619489 |
Bardet-Biedl Syndrome 22 |
|
Large for gestational age, Obesity, Hypogonadism |
OMIM:617119 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Obesity, Type II diabetes mellitus, Abnormality of the thyroid gland, Hypogona... |
ORPHA:2234 |
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive |
|
Hyperglycemia |
OMIM:618970 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Hyperglycemia |
OMIM:222100 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Obesity |
OMIM:620270 |
Xq27.3Q28 Duplication Syndrome |
|
Failure to thrive, Truncal obesity, Hypogonadism |
ORPHA:261483 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Biemond Syndrome Type 2 |
|
Delayed puberty, Obesity, Hypogonadotropic hypogonadism, Hypogonadism |
ORPHA:141333 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Short Syndrome |
|
Lipoatrophy, Inguinal hernia, Reduced subcutaneous adipose tissue, Absence of subcutaneous fat, H... |
OMIM:269880 |
Placental Insufficiency |
|
Insulin resistance, Small for gestational age |
ORPHA:439167 |
Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Obesity |
OMIM:603233 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Failure to thrive, Hypogonadism, Insulin resistance, Hypoglycemia, Truncal obesity, Small for ges... |
ORPHA:73272 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
X-Linked Acrogigantism |
|
Delayed puberty, Enlarged pituitary gland, Tall stature, Decreased thyroid-stimulating hormone le... |
ORPHA:300373 |
11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Maturity-onset diabetes of the young, Hyperglycemia |
OMIM:609812 |
Familial Multiple Lipomatosis |
|
Insulin resistance, Increased adipose tissue, Overgrowth, Lipodystrophy |
ORPHA:199276 |
Bardet-Biedl Syndrome 6 |
|
Obesity, Diabetes mellitus |
OMIM:605231 |
Pparg-Related Familial Partial Lipodystrophy |
|
Lipoatrophy, Maternal diabetes, Loss of subcutaneous adipose tissue in limbs, Insulin resistance,... |
ORPHA:79083 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Lipoatrophy, Loss of subcutaneous adipose tissue in limbs, Cellulitis, Lipodystrophy, Insulin res... |
ORPHA:2348 |
Temple Syndrome |
|
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Flexion contracture, Overweigh... |
OMIM:616222 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Elbow flexion contracture, Camptodactyly, Failure to thrive, Flexion contracture, Knee flexion co... |
OMIM:214150 |
Diabetes And Deafness, Maternally Inherited |
|
Hyperglycemia, Type II diabetes mellitus |
OMIM:520000 |
Morm Syndrome |
|
Truncal obesity |
ORPHA:75858 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity |
OMIM:604931 |
Immunodeficiency 61 |
|
Obesity |
OMIM:300310 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Abdominal obesity, Hyperglycemia, Type II diabetes mellitus, Truncal obesity |
OMIM:615812 |
Bardet-Biedl Syndrome 7 |
|
Obesity, Hypogonadism |
OMIM:615984 |
Bardet-Biedl Syndrome 16 |
|
Obesity, Hypogonadism |
OMIM:615993 |
Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Lipoatrophy, Loss of subcutaneous adipose tissue in limbs, Decreased serum leptin, Increased adip... |
ORPHA:280365 |
Laurence-Moon Syndrome |
|
Obesity, Type II diabetes mellitus |
ORPHA:2377 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Obesity |
OMIM:613670 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
Bardet-Biedl Syndrome 4 |
|
Obesity, Hypogonadism |
OMIM:615982 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Hypogonadism, Abdominal obesity, Increased circulating gonadotropin level, Small for gestational ... |
OMIM:300869 |
Acquired Generalized Lipodystrophy |
|
Generalized lipodystrophy, Hyperinsulinemia, Panniculitis, Insulin resistance, Insulin-resistant ... |
ORPHA:79086 |
Bardet-Biedl Syndrome 8 |
|
Obesity, Hypogonadism |
OMIM:615985 |
Bardet-Biedl Syndrome 9 |
|
Obesity, Hyperglycemia, Truncal obesity |
OMIM:615986 |
Short Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Lipodystrophy, Weight loss, Insulin resistanc... |
ORPHA:3163 |
Polyendocrine-Polyneuropathy Syndrome |
|
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... |
ORPHA:453533 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperinsulinemia, Loss of subcutaneous adipose tissue in limbs, Increased adipose tissue around t... |
OMIM:248370 |
Mpi-Cdg |
|
Hypothyroidism, Hyperinsulinemic hypoglycemia, Failure to thrive |
ORPHA:79319 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Tall stature, Hyperinsulinemia, Decreased serum leptin, Reduced subcutaneous adipose tissue, Lipo... |
OMIM:608594 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
Morgagni-Stewart-Morel Syndrome |
|
Abnormality of the endocrine system, Hypothyroidism, Obesity, Abnormality of the thyroid gland, D... |
ORPHA:77296 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Truncal obe... |
OMIM:618160 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Primary gonadal insufficiency, Insulin-resistant diabetes mellitus |
ORPHA:436182 |
Trisomy 5P |
|
Obesity |
ORPHA:1742 |
Rabson-Mendenhall Syndrome |
|
Increased serum testosterone level, Fasting hypoglycemia, Impaired glucose tolerance, Hypothyroid... |
ORPHA:769 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Obesity, Overweight |
OMIM:614651 |
Hypobetalipoproteinemia, Familial, 1 |
|
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... |
OMIM:615558 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
Adrenocortical Carcinoma |
|
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Increased u... |
ORPHA:1501 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Obesity, Type II diabetes mellitus |
OMIM:618620 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Hyperlipoproteinemia, Type V |
|
Decreased HDL cholesterol concentration, Increased circulating chylomicron concentration, Increas... |
OMIM:144650 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Obesity, Hyperglycemia, Hypergonadotropic hypogonadism |
OMIM:619737 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Hypocholesterolemia |
OMIM:610539 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism |
ORPHA:2183 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased T3/T4 ratio, Increased body weight, Omphalocele, Congenital hypothyroidism, Impaired se... |
OMIM:614450 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Increased body weight, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Primary hyp... |
OMIM:615830 |
Bangstad Syndrome |
|
Goiter, Primary gonadal insufficiency, Small for gestational age, Insulin-resistant diabetes mell... |
OMIM:210740 |
Subaortic Stenosis-Short Stature Syndrome |
|
Obesity, Type II diabetes mellitus, Inguinal hernia |
ORPHA:3191 |
Borjeson-Forssman-Lehmann Syndrome |
|
Delayed puberty, Obesity |
OMIM:301900 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Glycosuria, Ketotic hypoglycemia, Failure to thrive, Postprandial hyperglycemia |
ORPHA:2089 |
Multiple Endocrine Neoplasia Type 4 |
|
Abnormality of the endocrine system, Pituitary growth hormone cell adenoma, Pituitary corticotrop... |
ORPHA:276152 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Silver-Russell Syndrome |
|
Cachexia, Precocious puberty, Failure to thrive in infancy, Obesity, Premature adrenarche, Recurr... |
ORPHA:813 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Truncal obesity, Small for ges... |
ORPHA:96184 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Tall stature, Hyperinsulinemia, Decreased serum leptin, Reduced subcutaneous adipose tissue, Type... |
OMIM:269700 |
Laron Syndrome |
|
Delayed puberty, Hypoglycemia, Truncal obesity, Abnormality of the endocrine system |
ORPHA:633 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Obesity, Hypogonadism |
ORPHA:2233 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hyperinsulinemia, Failure to thrive, Flexion contracture, Lipodystrophy, Insulin resistance |
OMIM:613327 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Obesity, Diabetes mellitus, Congenital hypothyroidism |
OMIM:614613 |
Werner Syndrome |
|
Lipoatrophy, Thyroid carcinoma, Slender build, Type II diabetes mellitus, Hypogonadism, Lipodystr... |
ORPHA:902 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... |
ORPHA:189427 |
Retinitis Pigmentosa |
|
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Hypogonadism |
ORPHA:791 |
Seckel Syndrome 10 |
|
Impaired glucose tolerance, Glycosuria, Diabetes mellitus, Elevated circulating follicle stimulat... |
OMIM:617253 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmented micronodu... |
OMIM:610489 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type |
|
Obesity |
OMIM:300238 |
Wilson-Turner Syndrome |
|
Truncal obesity, Hypogonadotropic hypogonadism |
ORPHA:3459 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Obesity, Hypogonadotropic hypogonadism |
ORPHA:177910 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:444002 |
Bardet-Biedl Syndrome 21 |
|
Obesity, Overweight |
OMIM:617406 |
Aromatase Deficiency |
|
Tall stature, Hypergonadotropic hypogonadism, Eunuchoid habitus, Obesity, Type II diabetes mellit... |
ORPHA:91 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
48,Xxyy Syndrome |
|
Tall stature, Inguinal hernia, Abnormal dental enamel morphology, Hypergonadotropic hypogonadism,... |
ORPHA:10 |
Summitt Syndrome |
|
Tall stature, Obesity |
ORPHA:3210 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Obesity, Pituitary adenoma, Abdominal obesity, Increased circulating ... |
OMIM:219090 |
Pseudopseudohypoparathyroidism |
|
Pseudohypoparathyroidism, Enamel hypoplasia, Obesity |
OMIM:612463 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Hypoglycemic seizures, Neonatal hypoglycemia, Hypoketotic hypoglycemia, Failure to thrive, Hyperi... |
ORPHA:71212 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:352530 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Elevated circulating parathyroid ... |
OMIM:612462 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
Perrault Syndrome 4 |
|
Hypoplasia of the ovary, Obesity, Disproportionate tall stature, Decreased serum estradiol, Incre... |
OMIM:615300 |
14Q11.2 Microduplication Syndrome |
|
Hypothyroidism, Obesity |
ORPHA:261229 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Obesity, Glucose intolerance, Impaired glucose tolerance |
OMIM:615630 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hypoglycemia, Hyperinsulinemia |
ORPHA:230 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Hypothyroidism, Insulin resistance, Diabetes mellitus, Truncal obesity |
OMIM:616541 |
Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hyperinsulinemic hypoglycemia, Failure to thrive |
OMIM:602579 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Obesity, Hypogonadism |
OMIM:601794 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Amelogenesis imperfecta, Inguinal hernia, Enamel hypoplasia, Hip contracture, Obesity, Truncal ob... |
OMIM:618363 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Obesity, Lipoma |
ORPHA:480907 |
Potocki-Lupski Syndrome |
|
Scoliosis, Hypocholesterolemia |
OMIM:610883 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
Leprechaunism |
|
Hyperinsulinemia, Fasting hypoglycemia, Decreased body weight, Increased circulating renin level,... |
ORPHA:508 |
Bardet-Biedl Syndrome 19 |
|
Obesity, Hypogonadism |
OMIM:615996 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical disease, Paradoxi... |
OMIM:610475 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Obesity, Hypogonadism |
ORPHA:363741 |
Alstrom Syndrome |
|
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Diabetes insipidus, Hype... |
OMIM:203800 |
Laurence-Moon Syndrome |
|
Obesity |
OMIM:245800 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Delayed puberty, Absence of secondary sex characteristics, Reduced circulating prolactin concentr... |
ORPHA:2235 |
Baralle-Macken Syndrome |
|
Obesity |
OMIM:619255 |
Bardet-Biedl Syndrome 1 |
|
Nephrogenic diabetes insipidus, Obesity, Hypogonadism, Abdominal obesity, Insulin resistance, Dia... |
OMIM:209900 |
Pseudopseudohypoparathyroidism |
|
Obesity |
ORPHA:79445 |
Monosomy 13Q34 |
|
Insulin resistance, Obesity |
ORPHA:96168 |
Rafiq Syndrome |
|
Obesity, Truncal obesity, Flexion contracture |
OMIM:614202 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia |
OMIM:604484 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
Chung-Jansen Syndrome |
|
Obesity |
OMIM:617991 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Adrenal hyperplasia, ... |
OMIM:219080 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
Atkin-Flaitz Syndrome |
|
Obesity |
ORPHA:1193 |
Insulin-Like Growth Factor I, Resistance To |
|
Decreased body weight, Reduced subcutaneous adipose tissue, Lipodystrophy, Increased circulating ... |
OMIM:270450 |
Prader-Willi Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Precoci... |
OMIM:176270 |
Schaaf-Yang Syndrome |
|
Camptodactyly, Obesity, Flexion contracture, Hypogonadism, Failure to thrive in infancy, Arthrogr... |
OMIM:615547 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity |
OMIM:618124 |
Congenital Myopathy 9A |
|
Obesity |
OMIM:618822 |
Congenital Disorder Of Glycosylation, Type Il |
|
Hypoalbuminemia, Hypocholesterolemia, Short neck, Kyphosis |
OMIM:608776 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity |
OMIM:615633 |
Clark-Baraitser Syndrome |
|
Obesity |
OMIM:617752 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance |
OMIM:619322 |
Pseudohypoparathyroidism, Type Ia |
|
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism, Enamel hypoplasia, Hypo... |
OMIM:103580 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Obesity, Puberty and gonadal disorders |
ORPHA:464282 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity |
ORPHA:2928 |
Wagr Syndrome |
|
Obesity |
ORPHA:893 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity |
ORPHA:397973 |
Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Obesity, Umbilical hernia |
ORPHA:1035 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Delayed puberty, Insulin resistance, Generalized lipodystrophy |
ORPHA:90154 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... |
ORPHA:98754 |
Peroxisome Biogenesis Disorder 3B |
|
Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Narcolepsy Type 1 |
|
Precocious puberty, Obesity |
ORPHA:2073 |
Low Phospholipid-Associated Cholelithiasis |
|
Obesity, Diabetes mellitus, Overweight |
ORPHA:69663 |
Lipodystrophy, Familial Partial, Type 7 |
|
Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue in limbs, Impaired gluc... |
OMIM:606721 |
Clark-Baraitser syndrome |
|
Tall stature, Obesity |
OMIM:300602 |
X-Linked Intellectual Disability, Stevenson Type |
|
Tall stature, Obesity |
ORPHA:85325 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Obesity, Flexion contracture of toe, Hypogonadism |
ORPHA:3409 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity |
OMIM:619854 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Tall stature, Obesity |
OMIM:620439 |
Hypokalemic Periodic Paralysis |
|
Adrenocortical adenoma, Postprandial hyperglycemia |
ORPHA:681 |
Whipple Disease |
|
Hypothyroidism, Insulin resistance, Cachexia |
ORPHA:3452 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Small pituitary gland, Central hypothyroidism, Absence of pubertal developmen... |
ORPHA:398079 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... |
ORPHA:98793 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Obesity |
ORPHA:411515 |
Greig Cephalopolysyndactyly Syndrome |
|
Inguinal hernia, Omphalocele, Camptodactyly of toe, Hyperglycemia, Umbilical hernia, Joint contra... |
OMIM:175700 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... |
ORPHA:177904 |
15Q24 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Failure t... |
ORPHA:94065 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity |
OMIM:618821 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Delayed puberty, Decreased circulating inhibin B concentration, Decreased response to growth horm... |
ORPHA:177901 |
Squalene Synthase Deficiency |
|
Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Septo-Optic Dysplasia Spectrum |
|
Maternal diabetes, Diabetes insipidus, Anterior pituitary hypoplasia, Abnormality of the hypothal... |
ORPHA:3157 |
Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
Sheehan Syndrome |
|
Central diabetes insipidus, Reduced circulating prolactin concentration, Pituitary hypothyroidism... |
ORPHA:91355 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Obesity |
OMIM:604360 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Steatorrhea, Conjugated hyperbilirubinemia, Hypocholesterolemia |
OMIM:607765 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Pseudohypoparathyroidism, Obesity, Abnormality of the endocrine system |
ORPHA:464288 |
6Q16 Microdeletion Syndrome |
|
Obesity |
ORPHA:171829 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Tall stature, Obesity |
OMIM:618089 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased response to growth hormone stimulation test, Fasting hypoglycemia, Precocious puberty, ... |
ORPHA:96182 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Neonatal hypoglycemia, Obesity |
OMIM:608624 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Obesity, Umbilical hernia |
ORPHA:171839 |
Joubert Syndrome 10 |
|
Obesity, Decreased body weight |
OMIM:300804 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Obesity |
OMIM:301013 |
Microtriplication 11Q24.1 |
|
Obesity |
ORPHA:289522 |
48,Xxxy Syndrome |
|
Tall stature, Inguinal hernia, Abnormal dental enamel morphology, Obesity, Type II diabetes melli... |
ORPHA:96263 |
Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
Megalencephaly |
|
Truncal obesity |
ORPHA:2477 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity |
OMIM:613192 |
Atypical Werner Syndrome |
|
Delayed puberty, Neoplasm of the thyroid gland, Lipoatrophy, Hyperinsulinemia, Generalized lipody... |
ORPHA:79474 |
Bloom Syndrome |
|
Adipose tissue loss, Abdominal obesity, Insulin resistance, Diabetes mellitus, Small for gestatio... |
ORPHA:125 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Flexion contracture, Obesity, Male hypogonadism, Wrist flexion contracture |
OMIM:300055 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Failure to thrive, Hyperglycemia, Flexion contracture, Hypog... |
OMIM:609069 |
Senior-Loken Syndrome 9 |
|
Obesity, Hypogonadism |
OMIM:616629 |
Woodhouse-Sakati Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Hyperinsulinemia, Decreas... |
ORPHA:3464 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Failure to thrive, Hypoglycemia, Hyperglycemia |
OMIM:615453 |
Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
Cornelia De Lange Syndrome 5 |
|
Truncal obesity, Hypogonadism |
OMIM:300882 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Obesity |
ORPHA:3077 |
Chromosome 2Q37 Deletion Syndrome |
|
Hypothyroidism, Obesity |
OMIM:600430 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Hypoinsulinemia, Weight loss, Recurrent hypoglycemia |
ORPHA:2126 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Truncal obesity, Hypogonadism, Flexion contracture of digit |
ORPHA:3041 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Truncal obesity, Small for gestational age, Increased body mass index |
OMIM:300957 |
13Q12.3 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Failure to thrive, Obesity, Camptodactyly |
ORPHA:412035 |
Müllerian Aplasia And Hyperandrogenism |
|
Obesity, Increased serum testosterone level |
ORPHA:247768 |
Craniopharyngioma |
|
Delayed puberty, Central diabetes insipidus, Enlarged pituitary gland, Pituitary hypothyroidism, ... |
ORPHA:54595 |
Gitelman Syndrome |
|
Delayed puberty, Maternal diabetes, Graves disease, Hashimoto thyroiditis, Primary hyperaldostero... |
ORPHA:358 |
Dysbetalipoproteinemia |
|
Hypothyroidism, Obesity, Diabetes mellitus |
ORPHA:412 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Failure to thrive, Obesity |
OMIM:610543 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Lower-limb joint contracture, Glycosuria, Reduced pancreatic beta cells, Failure to thrive, Hyper... |
ORPHA:99885 |
Carpenter Syndrome |
|
Obesity, Umbilical hernia |
ORPHA:65759 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Impaired glucose tolerance, Glycosuria, Failure to thrive, Diabetes mellitu... |
ORPHA:2088 |
Tatton-Brown-Rahman Syndrome |
|
Proportionate tall stature, Obesity, Neuroendocrine neoplasm, Umbilical hernia |
ORPHA:404443 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Elbow flexion... |
ORPHA:98855 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Delayed puberty, Abdominal obesity, Hypogonadism |
OMIM:300354 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Flexion contracture |
ORPHA:90153 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Testicular atrophy, Hypothyroidism, Hyperglycemia, Weight loss, Diabetes mellitus, Hypogonadotrop... |
ORPHA:465508 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Obesity |
OMIM:619056 |
X-Linked Intellectual Disability, Hedera Type |
|
Obesity |
ORPHA:93952 |
Pde4D Haploinsufficiency Syndrome |
|
Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity |
ORPHA:439822 |
Macrocephaly/Autism Syndrome |
|
Large for gestational age, Obesity, Overgrowth |
OMIM:605309 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Tall stature, Obesity |
OMIM:618430 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Obesity, Streak ovary |
OMIM:194072 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Elevated circulating creatine kinase concentration, Abetalipoproteinemia, Decreased LDL cholester... |
ORPHA:96180 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Obesity |
ORPHA:2180 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Obesity, Overweight, Small for gestational age, Hypoketotic hypoglycemia |
ORPHA:26793 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Type I diabetes mellitus, Dentinogenesis imperfecta, Obesity |
OMIM:619269 |
Chylomicron Retention Disease |
|
Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Elbow flexion... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Elbow flexion... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Elbow flexion... |
ORPHA:98853 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Truncal obesity, Umbilical hernia |
ORPHA:284180 |
Smith-Magenis Syndrome |
|
Delayed puberty, Precocious puberty, Hypothyroidism, Obesity, Failure to thrive in infancy |
ORPHA:819 |
19P13.12 Microdeletion Syndrome |
|
Hypothyroidism, Obesity, Arthrogryposis multiplex congenita, Precocious puberty |
ORPHA:254346 |
Ring Chromosome Y Syndrome |
|
Obesity, Streak ovary, Male hypogonadism |
ORPHA:261529 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Obesity, Achilles tendon contracture |
OMIM:615418 |
Peripartum Cardiomyopathy |
|
Abnormality of thyroid physiology, Diabetes mellitus, Obesity |
ORPHA:563 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hypocholesterolemia |
OMIM:618810 |
Cole Disease |
|
Hyperglycemia |
OMIM:615522 |
Keppen-Lubinsky Syndrome |
|
Generalized lipodystrophy, Decreased serum leptin, Lack of facial subcutaneous fat, Absence of su... |
OMIM:614098 |
Distal 16P11.2 Microdeletion Syndrome |
|
Obesity |
ORPHA:261222 |
Thyrotoxic Periodic Paralysis |
|
Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goiter, Thyrotoxicos... |
ORPHA:79102 |
Joubert Syndrome 37 |
|
Obesity |
OMIM:619185 |
Adiposis Dolorosa |
|
Hypothyroidism, Obesity |
ORPHA:36397 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Obesity |
OMIM:620191 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Obesity, Overgrowth |
OMIM:620250 |
Prader-Willi Syndrome |
|
Decreased circulating inhibin B concentration, Decreased response to growth hormone stimulation t... |
ORPHA:739 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Small pituitary gland, Increased body weight, Central hypothyroidism, Absence... |
ORPHA:398069 |
Momo Syndrome |
|
Large for gestational age, Tall stature, Overgrowth, Obesity |
ORPHA:2563 |
Cushing Disease |
|
Increased urinary cortisol level, Increased body weight, Impaired glucose tolerance, Adrenal hype... |
ORPHA:96253 |
Radio-Tartaglia Syndrome |
|
Precocious puberty, Obesity |
OMIM:619312 |
Luscan-Lumish Syndrome |
|
Obesity, Overgrowth |
OMIM:616831 |
Ataxia-Oculomotor Apraxia 4 |
|
Obesity |
OMIM:616267 |
Bardet-Biedl Syndrome 17 |
|
Obesity, Hypogonadism |
OMIM:615994 |
Carpenter Syndrome 1 |
|
Camptodactyly, Omphalocele, Precocious puberty, Obesity, Umbilical hernia, Joint contracture of t... |
OMIM:201000 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Obesity, Decreased body weight |
ORPHA:589821 |
Borjeson-Forssman-Lehmann Syndrome |
|
Camptodactyly of toe, Truncal obesity, Hypogonadism |
ORPHA:127 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Abdominal obesity, Disproportionate tall stature, Camptodactyly |
OMIM:301039 |
Congenital Analbuminemia |
|
Small for gestational age, Obesity, Lipodystrophy |
ORPHA:86816 |
Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Diabetes insipidus, Anterior pituitary hyp... |
OMIM:615926 |
White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, Hypoglycemic seizures, Obesity, Failure to thrive |
OMIM:616364 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Cachexia, Camptodactyly of finger, Obesity, Hypogonadism |
ORPHA:85293 |
Necrotizing Enterocolitis |
|
Hyperglycemia, Small for gestational age, Abnormal glucose homeostasis |
ORPHA:391673 |
Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Failure to thrive, Decreased serum leptin, Flexion contracture |
OMIM:614008 |
Man1B1-Cdg |
|
Truncal obesity |
ORPHA:397941 |
Alg12-Cdg |
|
Scoliosis, Hyponatremia, Recurrent hypoglycemia, Hypoalbuminemia, Hypocholesterolemia |
ORPHA:79324 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Delayed puberty, Abnormal dental enamel morphology, Obesity |
ORPHA:251004 |
Meningioma |
|
Enlarged pituitary gland, Reduced circulating prolactin concentration, Decreased circulating ACTH... |
ORPHA:2495 |
Momo Syndrome |
|
Obesity, Overgrowth |
OMIM:157980 |
Abetalipoproteinemia |
|
Kyphoscoliosis, Steatorrhea, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperb... |
ORPHA:14 |
Mitchell-Riley Syndrome |
|
Diabetes mellitus, Hyperglycemia |
OMIM:615710 |
Joubert Syndrome 8 |
|
Obesity |
OMIM:612291 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hypoalbuminemia, Steatorrhea, Kyphosis, Hypocholesterolemia |
OMIM:212065 |
Rett Syndrome |
|
Increased serum leptin, Failure to thrive |
ORPHA:778 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Obesity |
ORPHA:174 |
Steinert Myotonic Dystrophy |
|
Non-medullary thyroid carcinoma, Abnormality of thyroid physiology, Hyperinsulinemia, Decreased r... |
ORPHA:273 |
Bardet-Biedl Syndrome |
|
Childhood-onset truncal obesity, Impaired fasting glucose, Abnormality of the endocrine system, H... |
ORPHA:110 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypopituitarism, Hypothyroidism, Hyperglycemia |
ORPHA:90065 |
Desbuquois Dysplasia 1 |
|
Obesity |
OMIM:251450 |
Beta-Ketothiolase Deficiency |
|
Hypoglycemia, Hyperglycemia, Weight loss |
ORPHA:134 |
2Q37 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Umbilical hernia |
ORPHA:1001 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Failure to thrive, Femoral hernia, Obesity, Inguinal hernia |
ORPHA:96147 |
Gaisböck Syndrome |
|
Increased circulating renin level, Overweight, Diabetes mellitus, Obesity |
ORPHA:90041 |
Rabin-Pappas Syndrome |
|
Failure to thrive in infancy, Obesity, Overgrowth |
OMIM:620155 |
Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Failure to thrive, Obesity |
ORPHA:261197 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pheochromocytoma, Increased body weight, Impaired glucose tolerance, Adrenal hyperplasia, Pulmona... |
ORPHA:99889 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan... |
ORPHA:99413 |
Turner Syndrome |
|
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan... |
ORPHA:881 |
Mosaic Monosomy X |
|
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan... |
ORPHA:99228 |
Monosomy X |
|
Delayed puberty, Hyperinsulinemia, Thyroiditis, Hashimoto thyroiditis, Failure to thrive in infan... |
ORPHA:99226 |
Fliedner-Zweier Syndrome |
|
Obesity |
OMIM:620511 |
Angelman Syndrome Due To A Point Mutation |
|
Obesity |
ORPHA:411511 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity |
OMIM:618395 |
Kallmann Syndrome |
|
Delayed puberty, Anterior hypopituitarism, Obesity, Hypogonadotropic hypogonadism, Hypothalamic g... |
ORPHA:478 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Cohen Syndrome |
|
Delayed puberty, Decreased response to growth hormone stimulation test, Childhood-onset truncal o... |
OMIM:216550 |
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies |
|
Reduced circulating growth hormone concentration, Obesity, Inguinal hernia, Umbilical hernia |
OMIM:620654 |
Isolated Sedoheptulokinase Deficiency |
|
Flexion contracture, Arthrogryposis multiplex congenita, Postprandial hyperglycemia, Inguinal hernia |
ORPHA:440713 |
Down Syndrome |
|
Delayed puberty, Obesity, Type II diabetes mellitus, Hyperthyroidism, Umbilical hernia |
ORPHA:870 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Obesity |
OMIM:618443 |
Den Hoed-De Boer-Voisin Syndrome |
|
Amelogenesis imperfecta, Decreased body weight, Enamel hypoplasia, Obesity, Overweight |
OMIM:619229 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Obesity |
OMIM:619680 |
Dend Syndrome |
|
Hyperglycemia |
ORPHA:79134 |
Fanconi-Bickel Syndrome |
|
Fasting hypoglycemia, Reduced subcutaneous adipose tissue, Glycosuria, Failure to thrive, Postpra... |
OMIM:227810 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity |
ORPHA:3224 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Obesity |
ORPHA:163681 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Hypoglycemia, Obesity, Umbilical hernia |
OMIM:301066 |
Bardet-Biedl Syndrome 12 |
|
Obesity, Hypogonadism |
OMIM:615989 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Enamel hypoplasia, Truncal obesity, Type II diabetes mellitus |
OMIM:210720 |
Pseudohypoparathyroidism Type 1C |
|
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... |
ORPHA:79444 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Weight loss |
ORPHA:251071 |
Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Pubertal developmental failure in females, Decreased serum leptin, Dela... |
ORPHA:740 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Elbow flexion contracture, Obesity |
OMIM:618493 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Obesity |
OMIM:617296 |
Kaufman Oculocerebrofacial Syndrome |
|
Hypocholesterolemia, Ovoid vertebral bodies |
OMIM:244450 |
Generalized Pustular Psoriasis |
|
Obesity, Overweight |
ORPHA:247353 |
Distal Deletion 12Q |
|
Maturity-onset diabetes of the young, Elbow flexion contracture, Proportionate tall stature, Pitu... |
ORPHA:96149 |
Angelman Syndrome |
|
Obesity |
OMIM:105830 |
Achondroplasia |
|
Obesity |
ORPHA:15 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Obesity, Diabetes mellitus, Hypogonadism |
OMIM:614231 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Obesity |
ORPHA:209902 |
Angelman Syndrome |
|
Obesity, Delayed menarche, Precocious puberty in females |
ORPHA:72 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Obesity |
ORPHA:98794 |
Pseudohypoparathyroidism Type 1A |
|
Decreased response to growth hormone stimulation test, Elevated circulating parathyroid hormone l... |
ORPHA:79443 |
Ulnar-Mammary Syndrome |
|
Delayed puberty, Hernia of the abdominal wall, Obesity, Camptodactyly of finger |
ORPHA:3138 |
Kleefstra Syndrome 1 |
|
Obesity |
OMIM:610253 |
White-Sutton Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Ventral hernia, Inguinal hernia |
ORPHA:468678 |
Cohen Syndrome |
|
Delayed puberty, Failure to thrive in infancy, Obesity |
ORPHA:193 |
Kleefstra Syndrome |
|
Obesity, Hernia |
ORPHA:261494 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Delayed puberty, Central diabetes insipidus, Decreased response to growth hormone stimulation tes... |
ORPHA:293987 |
Beckwith-Wiedemann Syndrome |
|
Congenital diaphragmatic hernia, Large for gestational age, Neonatal hypoglycemia, Tall stature, ... |
ORPHA:116 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Obesity |
ORPHA:251038 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Congenital diaphragmatic hernia, Inguinal hernia, Aplasia of the left hemidiaphragm, Glycosuria, ... |
OMIM:600001 |
Wagro Syndrome |
|
Obesity |
OMIM:612469 |
Secondary Intestinal Lymphangiectasia |
|
Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... |
ORPHA:90363 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Obesity, Overweight |
ORPHA:2822 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity |
ORPHA:319675 |
Dubowitz Syndrome |
|
Hypocholesterolemia, Sacral dimple |
OMIM:223370 |
Prader-Willi Syndrome Due To Translocation |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Hypogonadot... |
ORPHA:177907 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Precocious puberty, Obesity, Hypoparathyroidism |
ORPHA:369837 |
Diamond-Blackfan Anemia 21 |
|
Obesity |
OMIM:620072 |
Chops Syndrome |
|
Obesity |
OMIM:616368 |
Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Hypoglycemia, Hyperglycemia |
OMIM:620423 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Hypothyroidism, Decreased response to growth hormone stimulation test, Hyperglycemia, Obesity |
ORPHA:444077 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Truncal obesity |
ORPHA:2637 |
Xylt1-Cdg |
|
Truncal obesity |
ORPHA:370930 |
Bardet-Biedl Syndrome 20 |
|
Obesity, Male hypogonadism |
OMIM:619471 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Obesity, Inguinal hernia |
OMIM:614947 |
7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Inguinal hernia |
ORPHA:96121 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Abnormality of the pineal gland, Obesity, Failure to thrive |
ORPHA:369950 |
Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Hypoglycemia, Hyperglycemia |
ORPHA:3008 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Obesity |
OMIM:250420 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Obesity, Truncal obesity |
ORPHA:466950 |
Kabuki Syndrome |
|
Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia |
ORPHA:2322 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Pituitary hypothyroidism, Anterio... |
ORPHA:1435 |
Desbuquois Dysplasia 2 |
|
Truncal obesity |
OMIM:615777 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Delayed puberty, Hypothyroidism, Obesity, Increased circulating gonadotropin level, Streak ovary,... |
ORPHA:1772 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, Failure to thrive, Obesity, Truncal obesit... |
OMIM:615873 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Obesity |
OMIM:616078 |
Carney Complex |
|
Thyroid carcinoma, Tall stature, Increased circulating insulin-like growth factor 1 concentration... |
ORPHA:1359 |
Pmm2-Cdg |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal subcutaneous fat tissue ... |
ORPHA:79318 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Obesity, Inguinal hernia |
OMIM:618653 |
22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Inguinal hernia, Abnormal dental enamel morphology, Hypoplasia of the thymus,... |
ORPHA:567 |
White-Kernohan Syndrome |
|
Hypothyroidism, Obesity |
OMIM:619426 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Failure to thrive, Hypoglycemia, Hyperglycemia, Recurrent hypoglycemia |
OMIM:124000 |
Liver Disease, Severe Congenital |
|
Inguinal hernia, Abnormal circulating thyroid hormone concentration, Failure to thrive, Umbilical... |
OMIM:619991 |
Alström Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Decreased response to growth horm... |
ORPHA:64 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Delayed puberty, Decreased body weight, Failure to thrive, Obesity, Overweight |
OMIM:619475 |
Myhre Syndrome |
|
Platyspondyly, Short neck, Vertebral fusion, Enlarged vertebral pedicles |
OMIM:139210 |
Osteogenesis Imperfecta |
|
Vertebral compression fracture, Abnormal form of the vertebral bodies, Enlarged vertebral pedicle... |
ORPHA:666 |
Smith-Lemli-Opitz Syndrome |
|
Elevated circulating 7-dehydrocholesterol concentration, Hypoalbuminemia, Hypocholesterolemia, Sa... |
OMIM:270400 |
Digeorge Syndrome |
|
Inguinal hernia, Hypoplasia of the thymus, Femoral hernia, Hypothyroidism, Obesity, Parathyroid h... |
OMIM:188400 |
1P21.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:293948 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Obesity |
ORPHA:466943 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Limb joint contracture, Flexion contracture, Truncal obesity |
OMIM:301072 |
17Q24.2 Microdeletion Syndrome |
|
Failure to thrive in infancy, Truncal obesity, Pineal cyst |
ORPHA:529962 |
Adnp Syndrome |
|
Truncal obesity, Inguinal hernia, Umbilical hernia |
ORPHA:404448 |
Witteveen-Kolk Syndrome |
|
Congenital diaphragmatic hernia, Decreased response to growth hormone stimulation test, Inguinal ... |
OMIM:613406 |
Williams-Beuren Syndrome |
|
Glucose intolerance, Inguinal hernia, Hypothyroidism, Early onset of sexual maturation, Obesity, ... |
OMIM:194050 |
Ulnar-Mammary Syndrome |
|
Delayed puberty, Inguinal hernia, Anterior pituitary hypoplasia, Elbow flexion contracture, Obesi... |
OMIM:181450 |
1P36 Deletion Syndrome |
|
Hypothyroidism, Camptodactyly of finger, Obesity, Failure to thrive, Hypogonadism |
ORPHA:1606 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Pseudohypoparathyroidism, Failure to thrive, Obesity |
OMIM:617157 |
6Q Terminal Deletion Syndrome |
|
Failure to thrive, Obesity |
ORPHA:75857 |
Williams Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Hypothyroidism, Precocious puberty, Obesity, ... |
ORPHA:904 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Inguinal hernia, Failure to thrive, Hyperglycemia, Hypoglycemia, Small for gestational age |
OMIM:220111 |
Tako-Tsubo Cardiomyopathy |
|
Obesity |
ORPHA:66529 |
Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Enamel hypoplasia, Failure to thrive, Flexion contracture, Small for gestati... |
OMIM:180849 |
Lysinuric Protein Intolerance |
|
Failure to thrive, Truncal obesity |
OMIM:222700 |
Monosomy 22Q13.3 |
|
Obesity, Umbilical hernia |
ORPHA:48652 |
Scorpion Envenomation |
|
Glycosuria, Hyperglycemia |
ORPHA:466677 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of the ovary, Abdominal obesity, Flexion contracture |
OMIM:619321 |
Carpenter Syndrome 2 |
|
Obesity, Knee flexion contracture, Camptodactyly, Umbilical hernia |
OMIM:614976 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Failure to thrive, Obesity, Keloids |
ORPHA:353281 |
Primrose Syndrome |
|
Delayed puberty, Hypergonadotropic hypogonadism, Hypothyroidism, Diabetes mellitus, Hip contractu... |
OMIM:259050 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly, Congenital hypothyroidism, Hypothyroidism, Camptodactyly of finger, Obesity |
OMIM:607872 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Obesity |
ORPHA:70591 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Failure to thrive, Obesity, Corneal scarring, Keloids |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Failure to thrive, Obesity, Corneal scarring, Keloids |
ORPHA:353277 |
Leukocyte Adhesion Deficiency |
|
Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Cornelia De Lange Syndrome |
|
Delayed puberty, Failure to thrive, Truncal obesity, Congenital diaphragmatic hernia |
ORPHA:199 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Failure to thrive, Truncal obesity, Camptodactyly |
OMIM:612474 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Obesity, Hypogonadism |
OMIM:309580 |
Pallister-Killian Syndrome |
|
Congenital diaphragmatic hernia, Inguinal hernia, Camptodactyly of 2nd-5th fingers, Omphalocele, ... |
OMIM:601803 |