Attention Deficit-Hyperactivity Disorder |
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Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
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Short attention span, Hyperactivity |
DECIPHER:19 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
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Short attention span, Hyperactivity |
OMIM:608443 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
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Bruxism, Large for gestational age, Aggressive behavior, Hyperactivity |
ORPHA:356996 |
Schizophrenia 15 |
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Hyperactivity |
OMIM:613950 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
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Hyperactivity, Decreased body weight |
OMIM:616311 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
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Hyperactivity |
DECIPHER:20 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
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Bruxism, Aggressive behavior, Hyperactivity |
OMIM:615493 |
Maturity-Onset Diabetes Of The Young, Type 11 |
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Obesity, Overweight |
OMIM:613375 |
Obesity |
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Obesity, Increased waist to hip ratio |
OMIM:601665 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
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Self-injurious behavior, Inflexible adherence to routines, Failure to thrive in infancy, Obesity,... |
OMIM:613670 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
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Attention deficit hyperactivity disorder, Overweight, Motor stereotypy |
OMIM:620065 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
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Large for gestational age, Truncal obesity, Increased hepatic glycogen content |
ORPHA:293964 |
Smith-Magenis syndrome |
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Motor stereotypy, Hyperactivity, Self-mutilation |
DECIPHER:8 |
Intellectual Developmental Disorder, X-Linked 109 |
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Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... |
OMIM:309548 |
Fraxe Intellectual Disability |
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Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... |
ORPHA:100973 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
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Obesity, Cognitive impairment |
OMIM:619058 |
Triglyceride Storage Disease, Type Ii |
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Obesity |
OMIM:190430 |
Obesity And Hypopigmentation |
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Overgrowth, Obesity, Polyphagia, Hepatic steatosis |
OMIM:620195 |
Spermatogenic Failure, X-Linked, 1 |
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Obesity |
OMIM:305700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
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Obesity, Emotional lability |
OMIM:309585 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
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Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia |
OMIM:601820 |
Morm Syndrome |
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Aggressive behavior, Hyperactivity, Truncal obesity |
ORPHA:75858 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
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Hepatomegaly, Mental deterioration, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
Obesity Due To Sim1 Deficiency |
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Memory impairment, Obesity, Polyphagia, Attention deficit hyperactivity disorder, Cognitive impai... |
ORPHA:369873 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
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Large for gestational age, Pancreatic islet-cell hyperplasia |
OMIM:256450 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
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Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:301008 |
Glycine Encephalopathy 1 |
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Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity |
OMIM:605899 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
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Aggressive behavior, Obesity, Hyperactivity |
OMIM:620270 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Obesity, Hypercholesterolemia |
OMIM:608320 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Polyphagia, Obesity, Childhood-onset truncal obesity, Hypertriglyceridemia |
ORPHA:71529 |
Hartnup Disorder |
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Attention deficit hyperactivity disorder, Emotional lability, Hyperactivity |
OMIM:234500 |
Bardet-Biedl Syndrome 5 |
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Obesity, Cognitive impairment |
OMIM:615983 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
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Self-injurious behavior, Aggressive behavior, Hyperactivity |
OMIM:619031 |
Immunodeficiency 61 |
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Attention deficit hyperactivity disorder, Obesity |
OMIM:300310 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Aggressive behavior, Obesity, Polyphagia |
ORPHA:329249 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
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Hepatomegaly, Large for gestational age |
ORPHA:2432 |
Low Phospholipid-Associated Cholelithiasis |
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Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam... |
ORPHA:69663 |
Developmental And Epileptic Encephalopathy 43 |
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Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity |
OMIM:617113 |
Wilson Disease |
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Depression, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis... |
ORPHA:905 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
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Attention deficit hyperactivity disorder, Obesity |
OMIM:618725 |
Body Mass Index Quantitative Trait Locus 20 |
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Tall stature, Obesity, Polyphagia |
OMIM:618406 |
Adiposis Dolorosa |
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Obesity, Depression |
OMIM:103200 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Abnormal fear-induced behavior, Obesity, Irritability, Aggressive behavior, Hyperactivity, Anorex... |
ORPHA:3077 |
Hepatic Veno-Occlusive Disease |
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Increased body weight, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentr... |
ORPHA:890 |
Morbid Obesity And Spermatogenic Failure |
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Obesity, Hypercholesterolemia, Hepatic steatosis, Hypertriglyceridemia |
OMIM:615703 |
Landau-Kleffner Syndrome |
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Memory impairment, Depression, Short attention span, Emotional lability, Aggressive behavior, Att... |
ORPHA:98818 |
Obesity, Hyperphagia, And Developmental Delay |
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Polyphagia, Obesity, Motor stereotypy |
OMIM:613886 |
Citrullinemia Type Ii |
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Hepatic fibrosis, Memory impairment, Decreased body mass index, Elevated circulating hepatic tran... |
ORPHA:247585 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
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Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity |
OMIM:619927 |
Intellectual Developmental Disorder, X-Linked 107 |
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Aggressive behavior, Attention deficit hyperactivity disorder, Obesity, Hyperactivity |
OMIM:301013 |
Phenylketonuria |
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Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... |
OMIM:261600 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
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Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... |
OMIM:619827 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Obesity, Inappropriate laughter, Short attention span, Polyphagia, Hyperactivity |
ORPHA:411515 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
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Large for gestational age, Obesity, Truncal obesity |
OMIM:240900 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
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Mental deterioration, Abnormal temper tantrums, Obesity, Low frustration tolerance, Self-mutilati... |
ORPHA:163681 |
Obesity Due To Prohormone Convertase I Deficiency |
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Failure to thrive, Cholestasis, Obesity, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Failure to thrive, Cholestasis, Obesity, Polyphagia, Childhood-onset truncal obesity |
ORPHA:71526 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
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Progressive neurologic deterioration, Increased body weight, Pancreatic islet-cell hyperplasia, A... |
ORPHA:276608 |
Leptin Receptor Deficiency |
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Obesity, Abnormal eating behavior, Emotional lability, Aggressive behavior, Polyphagia |
OMIM:614963 |
Bardet-Biedl Syndrome 22 |
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Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Cortisone Reductase Deficiency 2 |
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Obesity, Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio |
OMIM:614662 |
Narcolepsy Type 1 |
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Transient global amnesia, Depression, Obesity, Restless legs, Attention deficit hyperactivity dis... |
ORPHA:2073 |
Obesity-Hypoventilation Syndrome |
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Obesity, Hypoventilation |
OMIM:257500 |
Juvenile Huntington Disease |
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Depression, Irritability, Weight loss, Hyperactivity, Dementia |
ORPHA:248111 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
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Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,... |
OMIM:615516 |
14Q11.2 Microduplication Syndrome |
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Polyphagia, Attention deficit hyperactivity disorder, Obesity, Aggressive behavior |
ORPHA:261229 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Mental deterioration, Depression, Increased circulating cortisol level, Primary hypercortisolism,... |
OMIM:610475 |
Body Mass Index Quantitative Trait Locus 19 |
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Polyphagia, Obesity, Hyperlipidemia, Hypertriglyceridemia |
OMIM:617885 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
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Polyphagia, Obesity, Aggressive behavior, Self-mutilation |
OMIM:616521 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
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Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Hypercholesterolemia... |
ORPHA:209902 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
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Increased body weight, Attention deficit hyperactivity disorder, Impulsivity |
ORPHA:589905 |
Intellectual Developmental Disorder, X-Linked 77 |
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Hyperactivity |
OMIM:300454 |
Smith-Magenis Syndrome |
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Head-banging, Onychotillomania, Self-mutilation, Increased body weight, Hypercholesterolemia, Hyp... |
OMIM:182290 |
Nephronophthisis 15 |
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Obesity, Elevated circulating hepatic transaminase concentration |
OMIM:614845 |
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
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Depression, Failure to thrive, Short attention span, Aggressive behavior, Attention deficit hyper... |
OMIM:620242 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
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Increased body weight, Depression, Increased circulating cortisol level, Abdominal obesity |
OMIM:615954 |
Coenzyme Q10 Deficiency, Primary, 2 |
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Obesity, Overweight, Bulimia |
OMIM:614651 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
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Increased body weight, Attention deficit hyperactivity disorder, Small for gestational age |
OMIM:274300 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
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Tall stature, Obesity, Overfriendliness, Polyphagia, Attention deficit hyperactivity disorder |
OMIM:620439 |
Ataxia-Oculomotor Apraxia Type 4 |
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Obesity, Short attention span, Cognitive impairment |
ORPHA:459033 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
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Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... |
OMIM:620141 |
Graves Disease |
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Polyphagia, Weight loss, Hyperactivity, Irritability |
OMIM:275000 |
Pitt-Hopkins-Like Syndrome 1 |
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Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Hyperventilation, P... |
OMIM:610042 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
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Elevated circulating hepatic transaminase concentration, Large for gestational age, Pancreatic is... |
ORPHA:263455 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Depression, Increased circulating cortisol level, Primary hypercortisolism, Emotional lability, I... |
OMIM:615830 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
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Memory impairment, Depression, Increased circulating cortisol level, Hyperaldosteronism, Hyperlip... |
ORPHA:189427 |
Morgagni-Stewart-Morel Syndrome |
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Memory impairment, Depression, Obesity, Hypercholesterolemia, Cognitive impairment |
ORPHA:77296 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
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Slender build, Recurrent hand flapping, Attention deficit hyperactivity disorder, Hyperactivity, ... |
OMIM:617600 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Cholestasis, Polyphagia, Obesity, Decreased circulating cortisol level |
OMIM:609734 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
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Self-injurious behavior, Abnormal temper tantrums, Depression, Short attention span, Recurrent ha... |
ORPHA:449291 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... |
ORPHA:264580 |
Ataxia-Oculomotor Apraxia 4 |
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Obesity, Hypercholesterolemia, Cognitive impairment |
OMIM:616267 |
Argininemia |
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Portal fibrosis, Micronodular cirrhosis, Cholestasis, Irritability, Hyperactivity, Anorexia, Hepa... |
OMIM:207800 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body weight, Increased body mass index |
OMIM:614450 |
Joubert Syndrome 8 |
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Prolonged neonatal jaundice, Hepatomegaly, Obesity, Hyperventilation |
OMIM:612291 |
Insulinoma |
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Increased body weight, Transient global amnesia, Polyphagia, Abnormality of the pancreatic islet ... |
ORPHA:97279 |
Macrocephaly/Autism Syndrome |
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Obesity, Large for gestational age, Short attention span, Splenomegaly, Overgrowth, Hepatomegaly |
OMIM:605309 |
Insulin-Like Growth Factor I Deficiency |
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Short attention span, Hyperactivity, Decreased body weight |
OMIM:608747 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Increase... |
ORPHA:79240 |
Wagro Syndrome |
|
Obesity, Emotional lability, Low frustration tolerance, Polyphagia, Aggressive behavior, Compulsi... |
OMIM:612469 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Polyphagia, Obesity, Emotional lability, Hypertriglyceridemia |
ORPHA:179494 |
Senior-Loken Syndrome 9 |
|
Cholestasis, Hepatic fibrosis, Obesity |
OMIM:616629 |
Prolactin Deficiency With Obesity And Enlarged Testes |
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Obesity |
OMIM:264120 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
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Increased body weight, Aggressive behavior, Self-injurious behavior |
OMIM:300860 |
Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Hyperaldosteronism, Irritability, Increased body weight, El... |
ORPHA:1501 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Large for gestational... |
ORPHA:79644 |
Blue Diaper Syndrome |
|
Increased body weight, Elevated circulating hepatic transaminase concentration |
ORPHA:94086 |
Dysbetalipoproteinemia |
|
Obesity, Xanthelasma, Hepatic steatosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly... |
ORPHA:412 |
Sotos Syndrome |
|
Tall stature, Increased body weight, Aggressive behavior, Attention deficit hyperactivity disorde... |
OMIM:117550 |
Magel2-Related Prader-Willi-Like Syndrome |
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Abnormal temper tantrums, Failure to thrive, Increased body weight, Polyphagia, Skin-picking, Cog... |
ORPHA:398069 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Prolonged neonatal jaundice, Depression, Overweight |
ORPHA:99832 |
Mody |
|
Pancreatic hypoplasia, Exocrine pancreatic insufficiency, Obesity, Large for gestational age, Hep... |
ORPHA:552 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Obesity, Hypertriglyceridemia |
OMIM:618620 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Weight loss, Small for gestational age, Agitation, Hyperactivity |
ORPHA:424 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Self-injurious behavior, Depression, Polydipsia, Elevated circulating hepatic transaminase concen... |
ORPHA:293987 |
1P21.3 Microdeletion Syndrome |
|
Self-injurious behavior, Obesity, Abnormal eating behavior, Self-mutilation, Aggressive behavior |
ORPHA:293948 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Cushing Disease |
|
Memory impairment, Depression, Increased circulating cortisol level, Emotional lability, Increase... |
ORPHA:96253 |
Insulin-Resistance Syndrome Type B |
|
Biliary cirrhosis, Abnormality of body weight, Decreased body weight, Increased body weight, Weig... |
ORPHA:2298 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Memory impairment, Depression, Increased circulating cortisol level, Anorexia, Pancreatic adenoca... |
ORPHA:99889 |
Histidinemia |
|
Hyperactivity |
ORPHA:2157 |
Hellp Syndrome |
|
Increased body weight, Elevated circulating hepatic transaminase concentration |
ORPHA:244242 |
Carney Complex |
|
Increased circulating cortisol level, Tall stature, Increased body weight, Abdominal obesity, Neo... |
ORPHA:1359 |