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 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... |
ORPHA:171706 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:256450 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Gait disturbance, Obesity |
ORPHA:436141 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71526 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Hypoinsulinemia, Obesity, Large for gestational age |
OMIM:240900 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity |
OMIM:615987 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:601820 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Overgrowth, Obesity |
OMIM:620195 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Obesity |
OMIM:615983 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Obesity |
ORPHA:85274 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Large for gestational age |
ORPHA:356996 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Obesity |
OMIM:620270 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... |
OMIM:610600 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Inguinal hernia, Obesity |
OMIM:300209 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Hypertriglyceridemia, Hypercholesterolemia, Obesity |
OMIM:615703 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Broad-based gait, Ataxia, Inability to walk, Obesity |
OMIM:616756 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Broad-based gait, Increased T3/T4 ratio, Increased body w... |
OMIM:614450 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Late-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circulating... |
ORPHA:556037 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Inability to wa... |
OMIM:300148 |
Xq27.3Q28 Duplication Syndrome |
|
Truncal obesity, Failure to thrive, Hypogonadism |
ORPHA:261483 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty |
ORPHA:141333 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Early-Onset Familial Hypoaldosteronism |
|
Abnormal circulating corticosterone level, Elevated serum 11-deoxycortisol, Increased circulating... |
ORPHA:556030 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Increased circulating free fatty acid level, Truncal obesity, Abnormal circulating insulin concen... |
ORPHA:293964 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity |
OMIM:604931 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... |
OMIM:274300 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Childhood-onset truncal obesity |
OMIM:610156 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism |
OMIM:603233 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypoinsulinemia, Hypogonadotropic hypogonadism, Obesity |
OMIM:600955 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Hypogonadism, Obesity |
OMIM:615981 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Obesity |
OMIM:615993 |
Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
11P15.4 Microduplication Syndrome |
|
Obesity |
ORPHA:300305 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... |
ORPHA:435651 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin... |
ORPHA:79085 |
Bardet-Biedl Syndrome 4 |
|
Hypogonadism, Obesity |
OMIM:615982 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity |
OMIM:615985 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... |
ORPHA:276608 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Diabeti... |
OMIM:615238 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... |
OMIM:616222 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipodystrophy, Decreased adip... |
ORPHA:435660 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Diabetes mellitus, Lipodystrophy, Hyperlipidemia |
OMIM:615980 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Loss of ambulation, Unsteady gait, Ataxia, Obesity |
OMIM:618124 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity |
ORPHA:369873 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad... |
OMIM:300869 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:618160 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Obesity |
OMIM:613670 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... |
ORPHA:90793 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Gait disturbance, Camptodactyly of finger |
ORPHA:2928 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Mehmo Syndrome |
|
Diabetes mellitus, Obesity |
ORPHA:85282 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity |
ORPHA:2183 |
Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Ataxia, Obesity |
ORPHA:2377 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Increased body weight, Increased c... |
OMIM:615830 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity |
OMIM:618725 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development |
OMIM:610628 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
Obesity, Hyperphagia, And Developmental Delay |
|
Obesity |
OMIM:613886 |
Laurence-Moon Syndrome |
|
Ataxia, Obesity |
OMIM:245800 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity |
ORPHA:2233 |
Trisomy 5P |
|
Obesity |
ORPHA:1742 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... |
ORPHA:2234 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Obesity, Gait ataxia, Disproportionate tall stature, Hy... |
OMIM:615300 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity, Gait disturbance |
ORPHA:2429 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Ataxia, Puberty and gonadal disorders, Unsteady gait, Obesity, Difficulty walking |
ORPHA:464282 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Large for gestational age |
ORPHA:2432 |
Borjeson-Forssman-Lehmann Syndrome |
|
Obesity, Delayed puberty |
OMIM:301900 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Baralle-Macken Syndrome |
|
Inability to walk, Obesity |
OMIM:619255 |
X-Linked Intellectual Disability, Hedera Type |
|
Inability to walk, Unsteady gait, Obesity, Dysmetria, Gait disturbance |
ORPHA:93952 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Congenital Myopathy 9A |
|
Obesity, Akinesia |
OMIM:618822 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Ataxia, Flexion contracture, Obesity, Choreoathetosis, Bradykinesia, Shuffling gait, Male hypogon... |
OMIM:300055 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypogonadotropic hypogonadism, Obesity |
ORPHA:177910 |
Summitt Syndrome |
|
Camptodactyly of finger, Obesity, Tall stature |
ORPHA:3210 |
Morm Syndrome |
|
Truncal obesity |
ORPHA:75858 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Obesity, Pseudohypoparathyroidism |
OMIM:612463 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Broad-based gait, Ataxia, Obesity |
ORPHA:411515 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Ataxia, Obesity |
ORPHA:459033 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Type I diabetes mellitus, Diffuse pancreatic islet h... |
ORPHA:276575 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Obesity |
OMIM:614651 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Tip-toe gait, Ataxia, Spastic gait, Obesity |
OMIM:604360 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-onset diabetes ... |
ORPHA:324575 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hypogonadism, Obesity |
OMIM:601794 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Type I diabetes mellitus, Diffuse... |
ORPHA:276580 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
Rafiq Syndrome |
|
Truncal obesity, Flexion contracture, Ataxia, Obesity |
OMIM:614202 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity |
ORPHA:363741 |
Idiopathic Intracranial Hypertension |
|
Lethargy, Obesity |
ORPHA:238624 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Achilles tendon contracture, Elbow flexion co... |
ORPHA:98855 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Elevated circulating parathyroid hormone level, Obesity |
ORPHA:79445 |
14Q11.2 Microduplication Syndrome |
|
Hypothyroidism, Obesity |
ORPHA:261229 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:352530 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight |
OMIM:620065 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Obesity |
ORPHA:444002 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Hypertriglyceridemia, Obesity |
OMIM:618620 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Ataxia, Obesity |
OMIM:616267 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:189427 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Lipoma, Obesity |
ORPHA:480907 |
Immunodeficiency 61 |
|
Obesity |
OMIM:300310 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... |
ORPHA:97279 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Pseudohypoparathyroidism... |
OMIM:612462 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Obesity |
OMIM:605231 |
Wilson-Turner Syndrome |
|
Truncal obesity, Hypogonadotropic hypogonadism |
ORPHA:3459 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... |
OMIM:219080 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Obesity, Tru... |
ORPHA:96184 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Inability to walk, Flexion contracture, Obesity, Hypogonadism, Camp... |
OMIM:615547 |
Blue Diaper Syndrome |
|
Decreased circulating T4 concentration, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:94086 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Obesity |
ORPHA:3077 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... |
OMIM:618363 |
Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity |
OMIM:617406 |
6Q16 Microdeletion Syndrome |
|
Broad-based gait, Obesity |
ORPHA:171829 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
48,Xxyy Syndrome |
|
Inguinal hernia, Ataxia, Abnormal dental enamel morphology, Hypergonadotropic hypogonadism, Obesi... |
ORPHA:10 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Achilles tendon contracture, Elbow flexion co... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Achilles tendon contracture, Elbow flexion co... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Hypertriglyceridemia, Lipodystrophy, Achilles tendon contracture, Elbow flexion co... |
ORPHA:98853 |
Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Inguinal hernia, Obesity |
ORPHA:3191 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Obesity |
OMIM:615996 |
Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Hypercholesterolemia |
ORPHA:86816 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hypercholest... |
OMIM:615812 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Umbilical hernia, Obesity |
ORPHA:1035 |
Rett Syndrome |
|
Inability to walk, Bradykinesia, Gait disturbance, Difficulty walking, Increased serum leptin, Fa... |
ORPHA:778 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity |
OMIM:616521 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Diffuse pancreatic islet hyperplasia, Hyperinsulinemic hypoglycemia, E... |
ORPHA:276556 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... |
ORPHA:79644 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
Chung-Jansen Syndrome |
|
Obesity |
OMIM:617991 |
Atkin-Flaitz Syndrome |
|
Obesity |
ORPHA:1193 |
Laron Syndrome |
|
Abnormality of the endocrine system, Truncal obesity, Hypercholesterolemia, Delayed puberty |
ORPHA:633 |
Pseudohypoparathyroidism, Type Ia |
|
Obesity, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, Hypogonadism, ... |
OMIM:103580 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Obesity |
ORPHA:397973 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia, Obesity |
ORPHA:289522 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity |
OMIM:615633 |
Urban-Rogers-Meyer Syndrome |
|
Hypogonadism, Camptodactyly of finger, Flexion contracture of toe, Obesity |
ORPHA:3409 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
Wagr Syndrome |
|
Obesity |
ORPHA:893 |
Clark-Baraitser Syndrome |
|
Obesity |
OMIM:617752 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Obesity, Congenital hypothyroidism |
OMIM:614613 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Small for gestational age, Increased body mass index, Gait disturbance, Truncal obesity |
OMIM:300957 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Unsteady gait, Dysmetria, Truncal obesity, Hypogonadism, Fle... |
ORPHA:3041 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Obesity |
OMIM:619737 |
Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Obesity |
OMIM:619854 |
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... |
ORPHA:90796 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Umbilical hernia, Obesity |
ORPHA:171839 |
Joubert Syndrome 32 |
|
Ataxia, Tall stature, Large for gestational age |
OMIM:617757 |
X-Linked Intellectual Disability, Stevenson Type |
|
Obesity, Tall stature |
ORPHA:85325 |
Clark-Baraitser syndrome |
|
Obesity, Tall stature |
OMIM:300602 |
Senior-Loken Syndrome 9 |
|
Hypogonadism, Obesity |
OMIM:616629 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... |
ORPHA:94065 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... |
ORPHA:226313 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... |
ORPHA:2298 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity |
OMIM:618821 |
Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Obesity |
OMIM:301013 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Obesity |
OMIM:615986 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Gait disturbance, Increased body weight |
ORPHA:589905 |
13Q12.3 Microdeletion Syndrome |
|
Failure to thrive, Obesity, Congenital diaphragmatic hernia, Camptodactyly |
ORPHA:412035 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Obesity, Pseudohypoparathyroidism |
ORPHA:464288 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... |
ORPHA:280365 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Obesity, Tall stature |
OMIM:618089 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Inguinal hernia, Overgrowth, Large for gestational age |
OMIM:618272 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu... |
OMIM:270450 |
Megalencephaly |
|
Truncal obesity |
ORPHA:2477 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperpl... |
ORPHA:263455 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... |
ORPHA:398079 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity |
OMIM:613192 |
Carpenter Syndrome |
|
Umbilical hernia, Obesity |
ORPHA:65759 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Gait imbalance, Obesity |
ORPHA:411511 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Abdominal obesity, Hypogonadism, Delayed puberty, Gait ataxia |
OMIM:300354 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... |
OMIM:608594 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Obesity |
OMIM:194072 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Ataxia, Obesity, Tall stature |
OMIM:618430 |
Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Obesity, Gait disturbance... |
ORPHA:819 |
Idiopathic Neonatal Atrial Flutter |
|
Maternal diabetes, Large for gestational age |
ORPHA:45452 |
Müllerian Aplasia And Hyperandrogenism |
|
Obesity, Increased serum testosterone level |
ORPHA:247768 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Obesity |
ORPHA:2180 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Achilles tendon contracture, Obesity |
OMIM:615418 |
Chromosome 2Q37 Deletion Syndrome |
|
Hypothyroidism, Obesity |
OMIM:600430 |
Cornelia De Lange Syndrome 5 |
|
Truncal obesity, Hypogonadism |
OMIM:300882 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Ataxia, Obesity |
OMIM:620191 |
Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity |
ORPHA:69663 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Failure to thrive, Obesity |
OMIM:610543 |
Pituitary Adenoma 4, Acth-Secreting |
|
Abdominal obesity, Obesity, Pituitary adenoma, Increased circulating ACTH level |
OMIM:219090 |
Tatton-Brown-Rahman Syndrome |
|
Umbilical hernia, Neuroendocrine neoplasm, Proportionate tall stature, Obesity |
ORPHA:404443 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia |
ORPHA:254534 |
Joubert Syndrome 8 |
|
Ataxia, Obesity |
OMIM:612291 |
Dysbetalipoproteinemia |
|
Diabetes mellitus, Hypertriglyceridemia, Obesity, Xanthelasma, Hypercholesterolemia, Hypothyroidism |
ORPHA:412 |
Xp22.13P22.2 Duplication Syndrome |
|
Truncal obesity, Umbilical hernia, Congenital diaphragmatic hernia |
ORPHA:284180 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Streak ovary, Obesity |
ORPHA:261529 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Diabetes mellitus, Small for gestational age, Anterior pituitary hypoplasia, Decreased response t... |
ORPHA:98754 |
19P13.12 Microdeletion Syndrome |
|
Precocious puberty, Hyperlipidemia, Obesity, Arthrogryposis multiplex congenita, Hypothyroidism |
ORPHA:254346 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Reduced intraabdominal ... |
OMIM:269700 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Obesity |
OMIM:619056 |
X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Broad-based gait, Camptodactyly of finger, Cachexia, Obesity, Hypogonadism |
ORPHA:85293 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Diabetes mellitus, Small for gestational age, Anterior pituitary hypoplasia, Decreased response t... |
ORPHA:98793 |
Down Syndrome |
|
Obesity, Gait disturbance, Type II diabetes mellitus, Umbilical hernia, Hypothyroidism |
ORPHA:870 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Diabetes mellitus, Small for gestational age, Anterior pituitary hypoplasia, Decreased response t... |
ORPHA:177904 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Diabetes mellitus, Small for gestational age, Anterior pituitary hypoplasia, Decreased response t... |
ORPHA:177901 |
Adiposis Dolorosa |
|
Hypothyroidism, Obesity |
ORPHA:36397 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Broad-based gait, Inguinal hernia, Ataxia, Diabetes mellitus, Dysmetria, Truncal obesity, Dysdiad... |
OMIM:616541 |
48,Xxxy Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Hypogonadism, Type II diabetes melli... |
ORPHA:96263 |
Pde4D Haploinsufficiency Syndrome |
|
Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity |
ORPHA:439822 |
Momo Syndrome |
|
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Tall stature |
ORPHA:2563 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Inability to walk, Unsteady gait, Elbow flexion contracture, Obesity |
OMIM:618493 |
Radio-Tartaglia Syndrome |
|
Precocious puberty, Ataxia, Gait imbalance, Obesity |
OMIM:619312 |
Distal 16P11.2 Microdeletion Syndrome |
|
Obesity |
ORPHA:261222 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Waddling gait, Obesity |
ORPHA:174 |
Septo-Optic Dysplasia Spectrum |
|
Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Abnormality of the hypothalamus-pituit... |
ORPHA:3157 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Small for gestational age, Increased circulating free fatty acid level, Overweight, Obesity, Leth... |
ORPHA:26793 |
Apparent Mineralocorticoid Excess |
|
Failure to thrive, Decreased circulating aldosterone level, Abnormality of circulating cortisol l... |
ORPHA:320 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:91355 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Hypogonadism, Obesity |
ORPHA:110 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Ataxia, Ob... |
ORPHA:478 |
Angelman Syndrome |
|
Progressive gait ataxia, Ataxia, Obesity, Broad-based gait |
OMIM:105830 |
Macrocephaly/Autism Syndrome |
|
Overgrowth, Obesity, Large for gestational age |
OMIM:605309 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Ataxia, Gait imbalance, Obesity |
ORPHA:98794 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Disproportionate tall stature, Abdominal obesity, Camptodactyly |
OMIM:301039 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hypogonadism, Truncal obesity, Failure to thrive, Small for gestational age |
ORPHA:73272 |
Borjeson-Forssman-Lehmann Syndrome |
|
Camptodactyly of toe, Truncal obesity, Hypogonadism |
ORPHA:127 |
Joubert Syndrome 37 |
|
Obesity |
OMIM:619185 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Tip-toe gait, Spastic gait, Obesity |
OMIM:617296 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Choreoathetosis, Failure to thrive, Obesity, Congenital diaphragmatic hernia |
ORPHA:261197 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Obesity |
OMIM:615630 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
Man1B1-Cdg |
|
Truncal obesity, Broad-based gait |
ORPHA:397941 |
Bardet-Biedl Syndrome 17 |
|
Hypogonadism, Obesity |
OMIM:615994 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Precocious puberty, Ataxia, Obesity |
ORPHA:163681 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Inability to walk, Unsteady gait, Ataxia, Obesity |
OMIM:618443 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Overgrowth, Obesity |
OMIM:620250 |
Webb-Dattani Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Adrenocorti... |
OMIM:615926 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hypertriglyceridemia, Ataxia, Obesity, Difficulty walking |
ORPHA:98907 |
Alstrom Syndrome |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:203800 |
Luscan-Lumish Syndrome |
|
Overgrowth, Obesity |
OMIM:616831 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Obesity, Delayed puberty |
ORPHA:251004 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Obesity, Decreased body weight |
ORPHA:589821 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Ataxia, Hypogonadotropic hypogona... |
ORPHA:2495 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Precocious puberty, Flexion contracture, Increased body weight, Absence of pu... |
ORPHA:398069 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Ataxia, Nephrogenic diabetes insipidus, Obesity, Truncal obesity, Abdominal ob... |
OMIM:209900 |
Aromatase Deficiency |
|
Eunuchoid habitus, Hypergonadotropic hypogonadism, Hyperlipidemia, Obesity, Type II diabetes mell... |
ORPHA:91 |
Carpenter Syndrome 1 |
|
Omphalocele, Precocious puberty, Obesity, Camptodactyly, Umbilical hernia, Joint contracture of t... |
OMIM:201000 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Obesity |
OMIM:251450 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ataxia, Overweight, Inability to walk, Obesity, Decreased body weight, Enamel hypoplasia, Ameloge... |
OMIM:619229 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Precocious puberty, Obesity, Premature adrenarche |
ORPHA:813 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Ataxia, Overweight, Inability to walk, Obesity, Gait disturbance |
ORPHA:2822 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
Xq21 Microdeletion Syndrome |
|
Ataxia, Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone defici... |
ORPHA:1435 |
Angelman Syndrome |
|
Broad-based gait, Ataxia, Precocious puberty in females, Inability to walk, Obesity, Delayed mena... |
ORPHA:72 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Obesity |
OMIM:615989 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Unsteady gait, Ataxia, Obesity |
OMIM:614947 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Failure to thrive, Femoral hernia, Obesity |
ORPHA:96147 |
Momo Syndrome |
|
Overgrowth, Obesity |
OMIM:157980 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Hypogonadotr... |
OMIM:176270 |
2Q37 Microdeletion Syndrome |
|
Umbilical hernia, Obesity, Congenital diaphragmatic hernia |
ORPHA:1001 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity |
OMIM:618395 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, ... |
ORPHA:96253 |
White-Sutton Syndrome |
|
Waddling gait, Failure to thrive, Obesity, Congenital diaphragmatic hernia |
OMIM:616364 |
Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Failure to thrive, Flexion contracture, Decreased serum leptin |
OMIM:614008 |
Wilson Disease |
|
Failure to thrive, Increased body weight, Difficulty walking, Weight loss |
ORPHA:905 |
Peripartum Cardiomyopathy |
|
Abnormality of thyroid physiology, Diabetes mellitus, Obesity |
ORPHA:563 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Dentinogenesis imperfecta, Obesity, Type I diabetes mellitus |
OMIM:619269 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
8P23.1 Microdeletion Syndrome |
|
Obesity, Congenital diaphragmatic hernia, Weight loss |
ORPHA:251071 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Obesity |
OMIM:619680 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity |
ORPHA:3224 |
Rabin-Pappas Syndrome |
|
Overgrowth, Obesity, Failure to thrive in infancy |
OMIM:620155 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity |
OMIM:608624 |
Cohen Syndrome |
|
Small for gestational age, Childhood-onset truncal obesity, Decreased response to growth hormone ... |
OMIM:216550 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... |
ORPHA:739 |
Atypical Werner Syndrome |
|
Diabetes mellitus, Lipoatrophy, Hypertriglyceridemia, Abnormal circulating leptin concentration, ... |
ORPHA:79474 |
Pseudohypoparathyroidism Type 1C |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79444 |
Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
Pseudohypoparathyroidism Type 1A |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... |
ORPHA:79443 |
Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Overweight, Obesity, Increased circulating renin level, ... |
ORPHA:90041 |
Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Hernia of the abdominal wall, Obesity, Delayed puberty |
ORPHA:3138 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Obesity |
ORPHA:251038 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Hypercholesterolemia, Obesity |
OMIM:619471 |
Generalized Pustular Psoriasis |
|
Overweight, Obesity |
ORPHA:247353 |
Achondroplasia |
|
Obesity |
ORPHA:15 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... |
ORPHA:99889 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Diabetes mellitus, Obesity, Pineal cyst, Difficulty walking |
ORPHA:98908 |
Kleefstra Syndrome 1 |
|
Obesity |
OMIM:610253 |
White-Sutton Syndrome |
|
Ventral hernia, Inguinal hernia, Obesity, Congenital diaphragmatic hernia |
ORPHA:468678 |
Kleefstra Syndrome |
|
Obesity, Hernia |
ORPHA:261494 |
Cohen Syndrome |
|
Failure to thrive in infancy, Obesity, Delayed puberty |
ORPHA:193 |
Wagro Syndrome |
|
Obesity |
OMIM:612469 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity |
ORPHA:319675 |
Monosomy 13Q34 |
|
Obesity |
ORPHA:96168 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Broad-based gait, Failure to thrive, Abnormality of the pineal gland, Obesity |
ORPHA:369950 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Large for gestational age |
OMIM:616026 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus |
OMIM:210720 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Hypertriglyceridemia, Obesity |
ORPHA:369837 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Obesity, Difficulty walking |
OMIM:618653 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Unsteady gait, Obesity, Dysmetria |
ORPHA:96121 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Increased body weight, Delayed puberty, Hypercholesterolemia, Failure to th... |
ORPHA:264580 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Limb joint contracture, Ataxia, Flexion contracture, Truncal obesity, Truncal ataxia |
OMIM:301072 |
Distal Deletion 12Q |
|
Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the young, Pituitary ... |
ORPHA:96149 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Precocious puberty, Umbilical hernia, Obesity |
OMIM:301066 |
Diamond-Blackfan Anemia 21 |
|
Obesity |
OMIM:620072 |
Xylt1-Cdg |
|
Truncal obesity |
ORPHA:370930 |
Bloom Syndrome |
|
Adipose tissue loss, Abdominal obesity, Diabetes mellitus, Small for gestational age |
ORPHA:125 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Truncal obesity |
ORPHA:2637 |
Prader-Willi Syndrome Due To Translocation |
|
Anterior pituitary hypoplasia, Hypogonadotropic hypogonadism, Obesity, Decreased response to grow... |
ORPHA:177907 |
Chops Syndrome |
|
Obesity |
OMIM:616368 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased body weight |
ORPHA:79240 |
Sotos Syndrome |
|
Overgrowth, Increased body weight, Tall stature |
OMIM:117550 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Obesity |
OMIM:250420 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Diabetes mellitus, Hypogonadism, Obesity |
OMIM:614231 |
Carney Complex |
|
Euthyroid multinodular goiter, Dorsocervical fat pad, Follicular thyroid carcinoma, Elevated circ... |
ORPHA:1359 |
Kabuki Syndrome |
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Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia |
ORPHA:2322 |
Joubert Syndrome 39 |
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Overweight, Joint contracture of the 5th finger |
OMIM:619562 |
Desbuquois Dysplasia 2 |
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Truncal obesity |
OMIM:615777 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Decreased response to growth hormone stimulation test, Central diabetes insipidus, Adrenocorticot... |
ORPHA:293987 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
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Truncal obesity, Obesity |
ORPHA:466950 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
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Streak ovary, Increased circulating gonadotropin level, Obesity, Delayed puberty, Decreased serum... |
ORPHA:1772 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Obesity |
OMIM:616078 |
6Q Terminal Deletion Syndrome |
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Failure to thrive, Obesity, Dysmetria, Gait ataxia |
ORPHA:75857 |
White-Kernohan Syndrome |
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Hypothyroidism, Obesity |
OMIM:619426 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Broad-based gait, Ataxia, Overweight, Obesity, Tip-toe gait, Falls, Decreased body weight, Failur... |
OMIM:619475 |
Beckwith-Wiedemann Syndrome |
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Omphalocele, Inguinal hernia, Adrenocortical cytomegaly, Congenital diaphragmatic hernia, Large f... |
ORPHA:116 |
1P21.3 Microdeletion Syndrome |
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Obesity |
ORPHA:293948 |
Helsmoortel-Van Der Aa Syndrome |
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Decreased response to growth hormone stimulation test, Obesity, Pineal cyst, Truncal obesity, Fai... |
OMIM:615873 |
Myhre Syndrome |
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Small for gestational age, Ataxia, Obesity, Camptodactyly |
OMIM:139210 |
Hutchinson-Gilford Progeria Syndrome |
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Female hypogonadism, Decreased serum leptin, Absence of subcutaneous fat, Weight loss, Shuffling ... |
ORPHA:740 |
22Q11.2 Deletion Syndrome |
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Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Obesity,... |
ORPHA:567 |
17Q24.2 Microdeletion Syndrome |
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Truncal obesity, Failure to thrive in infancy, Decreased response to growth hormone stimulation t... |
ORPHA:529962 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
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Obesity |
ORPHA:466943 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... |
ORPHA:99413 |
Turner Syndrome |
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Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... |
ORPHA:881 |
Mosaic Monosomy X |
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Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... |
ORPHA:99228 |
Monosomy X |
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Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating gonadotropin... |
ORPHA:99226 |
Digeorge Syndrome |
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Inguinal hernia, Femoral hernia, Parathyroid agenesis, Decreased circulating parathyroid hormone ... |
OMIM:188400 |
Adnp Syndrome |
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Truncal obesity, Inguinal hernia, Umbilical hernia |
ORPHA:404448 |
1P36 Deletion Syndrome |
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Camptodactyly of finger, Obesity, Hypogonadism, Gait disturbance, Failure to thrive, Hypothyroidism |
ORPHA:1606 |
Ulnar-Mammary Syndrome |
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Inguinal hernia, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contra... |
OMIM:181450 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
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Hypothyroidism, Obesity, Decreased response to growth hormone stimulation test |
ORPHA:444077 |
African Trypanosomiasis |
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Akinesia, Abnormality of the endocrine system, Weight loss, Choreoathetosis, Abnormality of renin... |
ORPHA:3385 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Abdominal obesity, Flexion contracture, Hypoplasia of the ovary |
OMIM:619321 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Failure to thrive, Obesity, Pseudohypoparathyroidism |
OMIM:617157 |
Monosomy 22Q13.3 |
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Umbilical hernia, Obesity |
ORPHA:48652 |
Rubinstein-Taybi Syndrome 1 |
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Small for gestational age, Premature thelarche, Unsteady gait, Flexion contracture, Truncal obesi... |
OMIM:180849 |
Lysinuric Protein Intolerance |
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Truncal obesity, Failure to thrive |
OMIM:222700 |
Williams Syndrome |
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Inguinal hernia, Ataxia, Failure to thrive in infancy, Abnormal dental enamel morphology, Hypogon... |
ORPHA:904 |
Williams-Beuren Syndrome |
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Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Flexion contracture, Obesity, E... |
OMIM:194050 |
Witteveen-Kolk Syndrome |
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Inguinal hernia, Small for gestational age, Decreased response to growth hormone stimulation test... |
OMIM:613406 |
Hellp Syndrome |
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Increased body weight |
ORPHA:244242 |
Carpenter Syndrome 2 |
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Umbilical hernia, Obesity, Camptodactyly, Knee flexion contracture |
OMIM:614976 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Obesity |
ORPHA:70591 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Keloids, Failure to thrive, Obesity |
ORPHA:353281 |
Tako-Tsubo Cardiomyopathy |
|
Obesity |
ORPHA:66529 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Obesity, Congenital hypothyroidism, Camptodactyly, Hypothyroidism |
OMIM:607872 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Keloids, Failure to thrive, Obesity, Corneal scarring |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Keloids, Failure to thrive, Obesity, Corneal scarring |
ORPHA:353277 |
Primrose Syndrome |
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Hip contracture, Diabetes mellitus, Ataxia, Hypergonadotropic hypogonadism, Flexion contracture, ... |
OMIM:259050 |
Alström Syndrome |
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Hypertriglyceridemia, Ataxia, Decreased response to growth hormone stimulation test, Dorsocervica... |
ORPHA:64 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Truncal obesity, Failure to thrive, Camptodactyly |
OMIM:612474 |
Cornelia De Lange Syndrome |
|
Truncal obesity, Failure to thrive, Congenital diaphragmatic hernia, Delayed puberty |
ORPHA:199 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hypogonadism, Obesity |
OMIM:309580 |
Pallister-Killian Syndrome |
|
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Inability to walk, Flexion contrac... |
OMIM:601803 |