Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Polyphagia, Child... |
ORPHA:71529 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia, Obesity, Tall stature |
OMIM:618406 |
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 |
Obesity And Hypopigmentation |
|
Overgrowth, Hyperinsulinemia, Polyphagia, Obesity |
OMIM:620195 |
Ossification Of The Posterior Longitudinal Ligament Of Spine |
|
Ectopic ossification, Increased bone mineral density, Diabetes mellitus, Abnormality of the verte... |
OMIM:602475 |
Buschke-Ollendorff Syndrome |
|
Joint stiffness, Connective tissue nevi, Osteopoikilosis, Flexion contracture, Scoliosis |
OMIM:166700 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Polyphagia, Obesity, Decreased serum leptin |
OMIM:614962 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Short neck, Osteoporosis, Delayed thelarc... |
OMIM:616033 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperinsulinemia, Polyphagia, Obesity, Aggressive behavior |
ORPHA:329249 |
Osteosclerotic Metaphyseal Dysplasia |
|
Increased bone mineral density, Failure to thrive, Sclerotic vertebral endplates, Clavicular scle... |
OMIM:615198 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... |
OMIM:610489 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Osteopoikilosis, Abnormal cortical bone morphology |
ORPHA:1879 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hyperinsulinemia, Polyphagia, Obesity, Increased serum leptin |
OMIM:617885 |
Melorheostosis |
|
Increased bone mineral density, Joint stiffness, Atypical scarring of skin, Hyperostosis, Arthrit... |
ORPHA:2485 |
Osteomesopyknosis |
|
Low back pain, Increased bone mineral density |
OMIM:166450 |
Isolated Osteopoikilosis |
|
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... |
ORPHA:166119 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemia, Hyperinsulinemic hypo... |
OMIM:601820 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Arthralgia/arthritis, Reactive hypoglycemia, Insulin-resistant diabetes ... |
ORPHA:411593 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
Functioning Gonadotropic Adenoma |
|
Osteopenia, Decreased response to growth hormone stimulation test, Isosexual precocious puberty, ... |
ORPHA:91348 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental enamel morphology |
ORPHA:1653 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Polyphagia, Obesity, Attention deficit hyperactivity disorder |
ORPHA:369873 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... |
ORPHA:171706 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... |
OMIM:609968 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteosclerosis, Abnormal form of... |
ORPHA:2790 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Osteoporosis, ... |
ORPHA:398079 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Osteoarthritis, Fasting hy... |
ORPHA:2298 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Extensor Tendons Of Finger Anomalies |
|
Multiple lipomas, Limitation of joint mobility, Osteoporosis, Camptodactyly of finger |
ORPHA:3294 |
14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism |
ORPHA:261229 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Agitation, Type I diabetes mellitus, Hyperinsulinemi... |
ORPHA:276575 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-onset diabetes ... |
ORPHA:324575 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Agitation, Type I diabetes mellit... |
ORPHA:276580 |
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia |
|
Increased bone mineral density |
OMIM:250500 |
12q14 microdeletion syndrome |
|
Osteopoikilosis |
DECIPHER:76 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Premature pubarche, Precocious puberty, Kyphosis, Flexion contracture, Osteoporosis, ... |
ORPHA:398069 |
Mueller-Weiss Syndrome |
|
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Facet joint arthrosis,... |
ORPHA:566943 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperlordosis, Kyphosis, Hyperinsulinemia, Obesity, Type II diabe... |
ORPHA:3085 |
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome |
|
Increased bone mineral density |
ORPHA:75325 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased bone den... |
OMIM:136300 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Obesity, Hypogonadotropic hypogonadism |
ORPHA:177910 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Sclerosteosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Tal... |
ORPHA:3152 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Pyknoachondrogenesis |
|
Increased bone mineral density |
OMIM:265880 |
Estrogen Resistance Syndrome |
|
Osteopenia, Increased circulating gonadotropin level, Delayed epiphyseal ossification, Absence of... |
ORPHA:785 |
Mccune-Albright Syndrome |
|
Hyperthyroidism, Recurrent fractures, Osteomalacia, Primary hypercortisolism, Precocious puberty,... |
ORPHA:562 |
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Thoracolumb... |
ORPHA:231720 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Polyphagia |
OMIM:222100 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Precocious puberty in females, Lipodystrophy, Adipose tissue loss, Insulin res... |
ORPHA:528 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Hypoinsulinemia, Obesity, Large for gestational age |
OMIM:240900 |
Osteochondrosis Of The Metatarsal Bone |
|
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness |
ORPHA:564003 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Neonatal hypoglycemia, Increased circulating androstenedion... |
ORPHA:90791 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Large for gestational age, Agitation, Hyperinsulinemic hypoglycemia, Excessive insulin response t... |
ORPHA:276556 |
Short Stature, Dauber-Argente Type |
|
Osteopenia, Fasting hyperinsulinemia, Reduced bone mineral density |
OMIM:619489 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Craniofacial hyperostosis, Cortical sclerosis, Craniofacial osteosclerosis, Diaphyseal sclerosis,... |
OMIM:122860 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity |
ORPHA:411515 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
Glucocorticoid Resistance, Generalized |
|
Hypoglycemia, Increased circulating ACTH level, Increased circulating cortisol level, Increased s... |
OMIM:615962 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b... |
OMIM:613670 |
Hyperostosis Corticalis Generalisata |
|
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis |
ORPHA:3416 |
Müllerian Aplasia And Hyperandrogenism |
|
Short neck, Obesity, Increased serum testosterone level |
ORPHA:247768 |
Polyembryoma |
|
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... |
ORPHA:180229 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
Osteopoikilosis And Dacryocystitis |
|
Osteopoikilosis |
OMIM:166705 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome |
|
Increased bone mineral density, Craniosynostosis |
ORPHA:178377 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Increase... |
OMIM:615830 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... |
ORPHA:2235 |
X-Linked Intellectual Disability, Van Esch Type |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Increased circulating... |
ORPHA:163976 |
46,Xx Sex Reversal 5 |
|
Aplasia of the left hemidiaphragm, Increased serum testosterone level |
OMIM:618901 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Estrogen Resistance |
|
Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia... |
OMIM:615363 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
Meningioma |
|
Back pain, Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypog... |
ORPHA:2495 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity |
OMIM:608320 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... |
ORPHA:97279 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity |
OMIM:615987 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Hypogonadism, Skin-picki... |
OMIM:615547 |
Rabson-Mendenhall Syndrome |
|
Increased pineal volume, Reduced subcutaneous adipose tissue, Impaired glucose tolerance, Precoci... |
ORPHA:769 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Alg6-Cdg |
|
Puberty and gonadal disorders, Failure to thrive, Scoliosis, Increased circulating androgen conce... |
ORPHA:79320 |
6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Aggressive behavior |
OMIM:620270 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Addictive alcohol use, Agitation, Co... |
ORPHA:399 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosuria, Pancreatic islet-... |
ORPHA:263455 |
Trichodentoosseous Syndrome |
|
Increased bone mineral density |
OMIM:190320 |
Bardet-Biedl Syndrome 9 |
|
Truncal obesity, Polydipsia, Polyphagia, Obesity |
OMIM:615986 |
Van Buchem Disease |
|
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones |
OMIM:239100 |
Chromosome Xq26.3 Duplication Syndrome |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:300942 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, O... |
OMIM:614856 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Hip Dysplasia, Beukes Type |
|
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Kyphosis, Abnormality ... |
ORPHA:2114 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Lipodystrophy, Hyperlordosis, Spinal rigidity, Insulin resistance, Flexion contractur... |
OMIM:613327 |
Osteoporosis |
|
Osteoporosis |
OMIM:166710 |
Camurati-Engelmann Disease |
|
Reduced subcutaneous adipose tissue, Increased bone mineral density, Diaphyseal sclerosis, Cortic... |
OMIM:131300 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2204 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Impaired glucose tolerance, Osteoporosis, Gout, Glucose intolerance, Type II diabetes mellitus |
OMIM:610947 |
Complete Androgen Insensitivity Syndrome |
|
Tall stature, Elevated circulating luteinizing hormone level, Increased serum estradiol, Increase... |
ORPHA:99429 |
Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Obesity |
OMIM:615983 |
Poems Syndrome |
|
Sclerosis of hand bone, Diabetes mellitus, Lipodystrophy, Sclerosis of foot bone, Abnormality of ... |
ORPHA:2905 |
Renal Glucosuria |
|
Polydipsia, Polyphagia |
OMIM:233100 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Hyperparathyroidism, Recurrent fractures, Osteomalacia, Bone cyst, Osteolysis, Abnormal form of t... |
ORPHA:93160 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Im... |
OMIM:248370 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Obesity |
ORPHA:85274 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Premature pubarche, Isosexual precocious puberty, Premature... |
ORPHA:90795 |
Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Inguinal hernia, Congenital adrenal hyperplasia, Increased serum testosterone level |
ORPHA:96181 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Increas... |
OMIM:615954 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... |
ORPHA:157954 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis |
OMIM:241520 |
Dysosteosclerosis |
|
Craniofacial hyperostosis, Increased bone mineral density, Recurrent fractures, Abnormal dental e... |
ORPHA:1782 |
Dacryocystitis-Osteopoikilosis Syndrome |
|
Increased bone mineral density, Osteopoikilosis |
ORPHA:1562 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... |
ORPHA:210110 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Inguinal hernia, Obesity |
OMIM:300209 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis |
OMIM:125440 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Abnormality of the vertebral column, Osteopetrosis, Calvarial osteosc... |
OMIM:607634 |
X-Linked Intellectual Disability, Cilliers Type |
|
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Increased circulating... |
ORPHA:163971 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
X-Linked Acrogigantism |
|
Increased body mass index, Decreased thyroid-stimulating hormone level, Enlarged pituitary gland,... |
ORPHA:300373 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
Pycnodysostosis |
|
Joint laxity, Increased bone mineral density, Decreased serum insulin-like growth factor 1, Decre... |
ORPHA:763 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated circulating parathyroi... |
OMIM:600785 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
11P15.4 Microduplication Syndrome |
|
Obesity, Aggressive behavior |
ORPHA:300305 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Insulin resistance, H... |
ORPHA:363400 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Hypergonadotropic hypogonadism, Smal... |
ORPHA:2959 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Werner Syndrome |
|
Increased bone mineral density, Lipodystrophy, Lipoatrophy, Joint stiffness, Insulin resistance, ... |
ORPHA:902 |
Diastrophic Dysplasia |
|
Increased bone mineral density, Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormal form... |
ORPHA:628 |
Perlman Syndrome |
|
Femoral hernia, Hyperinsulinemia, Inguinal hernia, Tall stature |
ORPHA:2849 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435651 |
Ovarian Fibrothecoma |
|
Abnormal circulating hormone concentration, Increased serum testosterone level |
ORPHA:314478 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Tall stature, Increased serum testosterone level |
ORPHA:8 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98793 |
Gonadoblastoma |
|
Increased serum testosterone level |
ORPHA:206484 |
Osteoporosis, Juvenile |
|
Osteoporosis |
OMIM:259750 |
Osteopetrosis, Autosomal Recessive 9 |
|
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Osteopetrosis, Pathologi... |
OMIM:620366 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177904 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98754 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177901 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Osteoporosis, Obesity, Absence of pubertal deve... |
OMIM:610628 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
Akt2-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me... |
ORPHA:79085 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Increased bone mineral density, Ovoid vertebral bodies, Short neck, Delayed patellar ossification... |
ORPHA:163649 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Craniosyn... |
OMIM:259700 |
Acquired Generalized Lipodystrophy |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Unicameral bone cyst, ... |
ORPHA:79086 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Diabetes mellitus, Abnormal odontoid process morphology, Kyphoscoliosis, Increased circulating an... |
ORPHA:2976 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Tall stature, Hypogonadotropic hypogonadism, Precocious pub... |
ORPHA:90794 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435660 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Hyperostosis, Metacarpal diaphyseal endosteal sclerosis, Clavicular scl... |
OMIM:144750 |
Pseudopseudohypoparathyroidism |
|
Short neck, Osteoporosis, Pseudohypoparathyroidism, Obesity, Enamel hypoplasia |
OMIM:612463 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Ankle flexion contracture, Kyphosis, Osteoporosis, Elbow flexion c... |
OMIM:259450 |
Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
Morm Syndrome |
|
Truncal obesity, Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Osteosclerosis With Ichthyosis And Fractures |
|
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Severe failure to thrive, Pancreatic i... |
OMIM:246200 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
Osteopetrosis, Autosomal Recessive 4 |
|
Osteopetrosis, Increased bone mineral density, Sclerotic vertebral endplates, Recurrent fractures |
OMIM:611490 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Synovitis, Increase... |
ORPHA:77297 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad... |
OMIM:300869 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... |
OMIM:608594 |
Luscan-Lumish Syndrome |
|
Overgrowth, Polyphagia, Obesity, Aggressive behavior |
OMIM:616831 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Hypoplastic vertebral bodies, ... |
ORPHA:3455 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:189427 |
Partial Androgen Insensitivity Syndrome |
|
Elevated circulating luteinizing hormone level, Increased serum estradiol, Increased circulating ... |
ORPHA:90797 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Advanced ossification of carpal ... |
OMIM:618363 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Kyphosi... |
OMIM:239000 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia, Decreased response to growth hormone stimulation test, Hypergonado... |
OMIM:606407 |
Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone mineral density, Decreased response to growth hormone stimulation test, Short neck... |
ORPHA:94089 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Type I diabetes mellitus, Failure to thrive, Osteoporosis, Rickets |
OMIM:560000 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:151660 |
Pediatric-Onset Graves Disease |
|
Hyperactivity, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goiter, Increased circu... |
ORPHA:525731 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
Hypophosphatasia, Adult |
|
Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, Pathologic fra... |
OMIM:146300 |
Ovarian Dysgenesis 8 |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Osteoporosis, Decreased serum ... |
OMIM:618187 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Osteopenia, Eunuchoid habitus, Hypogonadotropic hypogonadism, Female hypogonadism, Generalized jo... |
ORPHA:432 |
Mehmo Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Aggressive beha... |
OMIM:300148 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Abnormal vertebral segmentation and fusion, Limitation of joint m... |
ORPHA:90650 |
Xq27.3Q28 Duplication Syndrome |
|
Truncal obesity, Failure to thrive, Hypogonadism |
ORPHA:261483 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Obesity |
OMIM:614651 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... |
OMIM:614450 |
49,Xyyyy Syndrome |
|
Eunuchoid habitus, Generalized joint laxity, Increased circulating gonadotropin level, Radioulnar... |
ORPHA:99330 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... |
ORPHA:77296 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Kyphosis, Pituitary adenoma, Osteoporosis, Increased circulating ACTH... |
OMIM:219090 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty |
ORPHA:141333 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... |
ORPHA:99889 |
Man1B1-Cdg |
|
Truncal obesity, Polyphagia |
ORPHA:397941 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
Mehmo Syndrome |
|
Diabetes mellitus, Agitation, Obesity |
ORPHA:85282 |
Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:93924 |
Schnitzler Syndrome |
|
Arthritis, Increased bone mineral density |
ORPHA:37748 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Decreased circulating parathyroid hormone level, Delayed epiphyseal ossifica... |
OMIM:241530 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypoglycemia, Large for gestational age, Rickets, Glycosuria |
OMIM:616026 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea... |
OMIM:269700 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... |
OMIM:264700 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Spermatogenic Failure 15 |
|
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... |
OMIM:616950 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Elevated c... |
OMIM:277440 |
12Q14 Microdeletion Syndrome |
|
Failure to thrive, Osteopoikilosis, Diabetes mellitus, Scoliosis |
ORPHA:94063 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm... |
ORPHA:79444 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Childhood-onset truncal obesity |
OMIM:610156 |
Lipodystrophy, Familial Partial, Type 6 |
|
Lumbar hyperlordosis, Diabetes mellitus, Lipodystrophy, Insulin resistance, Abdominal obesity |
OMIM:615980 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Short neck, Abnormality of the thyroid gland, Hemivertebrae, Obesity, Abnormal... |
ORPHA:2234 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Osteopenia, Inguinal hernia, Abnormality of subcutaneous fat tissue, Osteomalacia, Femoral hernia... |
ORPHA:1901 |
Lethal Recessive Chondrodysplasia |
|
Generalized osteosclerosis |
ORPHA:1423 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Increased bone mineral density, Osteopetrosis, Decreased body weight |
OMIM:617306 |
Axial Osteomalacia |
|
Increased bone mineral density, Osteomalacia |
OMIM:109130 |
Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Obesity |
OMIM:615993 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Delayed epiphyseal ossification, Elevated circulating thyroid-stimulat... |
ORPHA:226313 |
Hypercholanemia, Familial 1 |
|
Failure to thrive, Rickets |
OMIM:607748 |
Angelman Syndrome |
|
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel... |
ORPHA:72 |
Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Hypothyroidism |
OMIM:275120 |
Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia |
OMIM:612469 |
Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Overweight, ... |
OMIM:616222 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Sp... |
ORPHA:289157 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Recurrent fractures, Osteomalacia, Camptodactyly of finger, Joint stiffness, Short ne... |
ORPHA:2176 |
Aarskog-Scott Syndrome |
|
Joint laxity, Hyperextensibility of the finger joints, Inguinal hernia, Elevated circulating lute... |
OMIM:305400 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Osteopetrosis |
OMIM:615085 |
Prader-Willi Syndrome |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
OMIM:176270 |
Galactokinase Deficiency |
|
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Failur... |
ORPHA:79237 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Short neck, Kyphosis, Osteoporosis, Obesity, Hypogo... |
ORPHA:3409 |
Spermatogenic Failure 2 |
|
Abnormal circulating testosterone concentration, Abnormal circulating follicle-stimulating hormon... |
OMIM:108420 |
Pseudohypoparathyroidism, Type Ic |
|
Short neck, Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudoh... |
OMIM:612462 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Abnormal dental enamel morphology, Polyphagia, Obesity, Delayed puberty |
ORPHA:251004 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Joint stiffness, Osteoporosis, Weight loss, Art... |
ORPHA:465508 |
Cln3 Disease |
|
Increased circulating androgen concentration |
ORPHA:228346 |
Chondrodysplasia, Blomstrand Type |
|
Generalized osteosclerosis, Advanced ossification of carpal bones, Advanced tarsal ossification |
OMIM:215045 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Obesity |
OMIM:615703 |
Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm... |
ORPHA:79443 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Hypogonadism, Obesity |
OMIM:615981 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity |
OMIM:604931 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors |
ORPHA:444002 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Ectopic ossification, Elevated circulating parathyroid hormo... |
ORPHA:79445 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Short neck, Kyphosis, Obesity, Type II diabetes mellitus, Scoliosis, Synostosis ... |
ORPHA:3191 |
Pseudohypoparathyroidism, Type Ia |
|
Short neck, Osteoporosis, Pseudohypoparathyroidism, Obesity, Subcutaneous ossification, Elevated ... |
OMIM:103580 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Elevated circulating parathyroid hormone ... |
OMIM:613388 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Osteoporosis... |
OMIM:219080 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, In... |
ORPHA:79474 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Osteoarthritis, Enamel hypomineralization, Rickets, Spinal canal stenosis, Elevated... |
OMIM:307800 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Maturity-onset diabetes of the young, Precocious puberty, Obesity, Scoliosis, Joint hypermobility |
ORPHA:254531 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Diabetes mellitus, Impaired glucose tolerance, Rickets, Fasting hypoglycemia, Glycosu... |
ORPHA:2088 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Delayed puberty... |
ORPHA:77259 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Scoliosis, Scle... |
ORPHA:85188 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parathyroid hormone ... |
ORPHA:157215 |
Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism |
OMIM:603233 |
Cystinosis |
|
Nephrogenic diabetes insipidus, Rickets, Delayed puberty, Type I diabetes mellitus, Failure to th... |
ORPHA:213 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Hyperthyroidism, Osteomalacia, Precocious puberty in fem... |
ORPHA:249 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Lipoma, Obesity, Oral-pharyngeal dysphagia |
ORPHA:480907 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Enamel hypomineralization, Dental enamel pits |
ORPHA:3352 |
Dysostosis, Stanescu Type |
|
Increased bone mineral density, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyp... |
ORPHA:1798 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ... |
OMIM:202010 |
Ovarian Hyperstimulation Syndrome |
|
Increased circulating gonadotropin level, Increased serum testosterone level |
ORPHA:64739 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Weight loss, Primary hypothyroidism, Failure to thrive, Polyphagia |
ORPHA:95427 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Osteomalacia, Craniosynostos... |
ORPHA:289176 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Osteoporosis, Obesity, Disproportionate tall stature, H... |
OMIM:615300 |
Bardet-Biedl Syndrome 4 |
|
Hypogonadism, Obesity |
OMIM:615982 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... |
ORPHA:739 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity |
ORPHA:3077 |
Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Arthrogry... |
ORPHA:2771 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Increased bone mineral density, Vertebral arch anomaly, Thin bony cortex |
ORPHA:85184 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Streak ovary, Hypergonadotropic hypogonadism, Lumbar hyperlordosis, Kyphosis, Increas... |
ORPHA:2232 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... |
ORPHA:478 |
Chung-Jansen Syndrome |
|
Attention deficit hyperactivity disorder, Obesity, Impulsivity, Aggressive behavior |
OMIM:617991 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308700 |
Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Failure to... |
OMIM:600081 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Small for gestational age, Lipoatrophy, Short neck, Flexion ... |
OMIM:264090 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Increased bone mineral density, Hyperlordosis, Osteopetrosis, Scoliosis, Facial hyperostosis, Spi... |
ORPHA:2780 |
Osteopetrosis, Autosomal Recessive 6 |
|
Osteopetrosis |
OMIM:611497 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Joint laxity, Multiple joint contractures, Spinal rigidity, Overweight, Scoliosis, Delayed puberty |
ORPHA:486815 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Rickets |
OMIM:602722 |
Immunodeficiency 61 |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:300310 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity |
OMIM:615985 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
49,Xxxyy Syndrome |
|
Eunuchoid habitus, Increased circulating gonadotropin level, Primary gonadal insufficiency, Male ... |
ORPHA:261534 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... |
ORPHA:53 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Spinal canal stenosis, Obesity, Advanced ossification of carpal bones, Congeni... |
OMIM:614613 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypoinsulinemia, Hypogonadotropic hypogonadism, Obesity |
OMIM:600955 |
Ghosal Hematodiaphyseal Dysplasia |
|
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna |
OMIM:231095 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Hypothyroidism, Obesity, Self-injurious behavior, Skin-pickin... |
OMIM:600430 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:618160 |
Summitt Syndrome |
|
Tall stature, Camptodactyly of finger, Craniosynostosis, Obesity |
ORPHA:3210 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis |
OMIM:126550 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Borjeson-Forssman-Lehmann Syndrome |
|
Obesity, Delayed puberty |
OMIM:301900 |
Autosomal Recessive Spastic Paraplegia Type 26 |
|
Decreased serum testosterone concentration, Scoliosis |
ORPHA:101006 |
Spermatogenic Failure 77 |
|
Abnormal circulating testosterone concentration, Elevated circulating follicle stimulating hormon... |
OMIM:620103 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity |
ORPHA:2183 |
Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
Rafiq Syndrome |
|
Truncal obesity, Flexion contracture, Obesity, Aggressive behavior |
OMIM:614202 |
Spermatogenic Failure 14 |
|
Abnormal circulating testosterone concentration, Abnormal circulating luteinizing hormone concent... |
OMIM:615842 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Increased intervertebral space, Increased... |
OMIM:224300 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... |
OMIM:618841 |
Mpi-Cdg |
|
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Male hypogonadism, Decreased circulating renin level, Eleva... |
ORPHA:90793 |
Cantu Syndrome |
|
Ovoid vertebral bodies, Short neck, Large for gestational age, Cuboid-shaped vertebral bodies, Os... |
OMIM:239850 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism |
OMIM:613192 |
Trisomy 5P |
|
Obesity |
ORPHA:1742 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Obesity, Stereotypical hand wringing |
OMIM:619854 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Autoimmune hypoparathyroidism |
ORPHA:36913 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Obesity, Aggressive behavior |
OMIM:617752 |
Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... |
ORPHA:94086 |
Celiac Disease, Susceptibility To, 1 |
|
Osteoporosis, Thyroiditis, Rickets, Weight loss, Delayed puberty, Type I diabetes mellitus, Ename... |
OMIM:212750 |
Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95513 |
Solitary Fibrous Tumor |
|
Low back pain, Hypoglycemia, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoi... |
ORPHA:2126 |
48,Xxyy Syndrome |
|
Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Obesity, Type... |
ORPHA:10 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Increased bone mineral density, Failure to thrive, Camptodactyly of finger, Tarsal s... |
ORPHA:90652 |
Cholestasis, Progressive Familial Intrahepatic, 1 |
|
Osteopenia, Failure to thrive, Rickets |
OMIM:211600 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Increased bone mineral density, Inguinal hernia, Femoral hernia, Abnormal dental enamel morpholog... |
ORPHA:2658 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia |
OMIM:193100 |
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 |
Woodhouse-Sakati Syndrome |
|
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistan... |
ORPHA:3464 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... |
OMIM:156200 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity |
ORPHA:2233 |
Schwartz-Jampel Syndrome |
|
Hip contracture, Increased bone mineral density, Abnormally ossified vertebrae, Inguinal hernia, ... |
ORPHA:800 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Osteomalacia, Rickets, Fasting hypoglycemia, Glycosuria, Pos... |
OMIM:227810 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
Paget Disease Of Bone 3 |
|
Fractures of the long bones, Osteolysis, Patchy osteosclerosis |
OMIM:167250 |
Senior-Loken Syndrome 9 |
|
Osteopenia, Hypogonadism, Obesity |
OMIM:616629 |
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Failure to thrive, Rickets |
OMIM:611590 |
Spermatogenic Failure 28 |
|
Decreased serum testosterone concentration, Elevated circulating follicle stimulating hormone lev... |
OMIM:618086 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Obesity |
ORPHA:397973 |
Kenny-Caffey Syndrome, Type 2 |
|
Hypoparathyroidism, Increased bone mineral density, Small for gestational age, Thickened cortex o... |
OMIM:127000 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Self-m... |
ORPHA:412035 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Precocious puberty, Obesity, Platyspondyly, Scoliosis, Type I diabetes mellitus, Dent... |
OMIM:619269 |
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 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial hyperostosis, Diaphyseal sc... |
OMIM:259710 |
Beemer-Ertbruggen Syndrome |
|
Increased bone mineral density |
ORPHA:1237 |
Pycnodysostosis |
|
Increased bone mineral density, Spondylolysis, Osteolytic defects of the distal phalanges of the ... |
OMIM:265800 |
Eiken Syndrome |
|
Abnormal trabecular bone morphology, Absence of the sacrum, Delayed epiphyseal ossification, Limi... |
ORPHA:79106 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Short neck, Obesity, Irregular vertebral endplates, Platyspondyly, Delayed ossifica... |
OMIM:618395 |
Spermatogenic Failure, X-Linked, 4 |
|
Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating follic... |
OMIM:301077 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hyperparathyroidism, Parathyroid hyperplasia, Rickets, Elevated circulating parathyroid hormone l... |
OMIM:612089 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Inguinal hernia, Large for gestational age, Kyphosis, Overgrowth, Umbilical hernia |
OMIM:618272 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Di... |
OMIM:618476 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Decreased serum testosterone concentration, Scoliosis |
OMIM:609195 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Adnp Syndrome |
|
Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Abnormal temper... |
ORPHA:404448 |
Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Obesity |
ORPHA:2377 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:352530 |
Craniometaphyseal Dysplasia |
|
Craniofacial hyperostosis, Osteopetrosis |
ORPHA:1522 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behavi... |
ORPHA:96121 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, ... |
ORPHA:98855 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia |
OMIM:146350 |
Delayed Puberty, Self-Limited |
|
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... |
OMIM:619613 |
Weaver Syndrome |
|
Inguinal hernia, Overgrowth, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Poly... |
OMIM:277590 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Obesity, Dysphagia |
OMIM:604360 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... |
ORPHA:89936 |
Angelman Syndrome Due To A Point Mutation |
|
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... |
ORPHA:411511 |
Erdheim-Chester Disease |
|
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Osteolysis, Weight ... |
ORPHA:35687 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Decreased circulating parathyroid hormone level, Congenital hypoparathyroidism, Decreased respons... |
OMIM:241410 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Flexion contracture, Obesity, Bruxism, Male hypogonadism, Wrist flexion contracture |
OMIM:300055 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Joint stiffness, Short neck, Hyperlordosis, Achilles tendon contracture... |
ORPHA:98863 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Elevated circulating follicle ... |
ORPHA:3044 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Umbilical hernia, Obesity |
ORPHA:1035 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Camptodactyly of finger |
ORPHA:2928 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms... |
OMIM:618430 |
Wilson-Turner Syndrome |
|
Truncal obesity, Hypogonadotropic hypogonadism |
ORPHA:3459 |
15Q24 Microdeletion Syndrome |
|
Joint laxity, Small for gestational age, Decreased response to growth hormone stimulation test, C... |
ORPHA:94065 |
Fanconi Renotubular Syndrome 3 |
|
Rickets, Glycosuria |
OMIM:615605 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Polyphagia, Self-mutilation, Aggressive behavior |
ORPHA:251028 |
Desmosterolosis |
|
Increased bone mineral density, Failure to thrive, Osteopetrosis |
ORPHA:35107 |
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased circulating lutein... |
OMIM:616030 |
Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity |
OMIM:617406 |
Tyrosinemia Type 1 |
|
Rickets of the lower limbs |
ORPHA:882 |
Bile Acid Conjugation Defect 1 |
|
Rickets |
OMIM:619232 |
Aromatase Deficiency |
|
Osteopenia, Eunuchoid habitus, Hypergonadotropic hypogonadism, Delayed epiphyseal ossification, I... |
ORPHA:91 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Obesity, Osteosclerosis of ribs, Irregular vertebral endplates, Platyspondy... |
ORPHA:174 |
Carpenter Syndrome |
|
Umbilical hernia, Kyphoscoliosis, Obesity, Craniosynostosis |
ORPHA:65759 |
Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Obesity |
OMIM:615996 |
Sanjad-Sakati Syndrome |
|
Hypoparathyroidism, Abnormal dental enamel morphology, Patchy osteosclerosis, Spinal canal stenos... |
ORPHA:2323 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... |
ORPHA:280365 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, ... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Lipodystrophy, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, ... |
ORPHA:98853 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Tall stature |
OMIM:618089 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Failure to thrive... |
ORPHA:71212 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Multiple lipomas, Primary hyperparathyroidism, Osteomalacia, Chondrocalcinosis |
OMIM:600740 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Overweight, Cranial hyperostosis, Decreased response to growth hormone stimulation test |
ORPHA:457240 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
Dent Disease 1 |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300009 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu... |
OMIM:270450 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Desmosterolosis |
|
Generalized osteosclerosis, Failure to thrive, Joint contracture of the hand, Arthrogryposis mult... |
OMIM:602398 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Abno... |
ORPHA:83451 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration, Hypoplasia of th... |
OMIM:614841 |
Trichothiodystrophy |
|
Osteopenia, Increased bone mineral density, Multiple joint contractures, Craniosynostosis, Absenc... |
ORPHA:33364 |
46,Xy Sex Reversal 11 |
|
Elevated circulating luteinizing hormone level, Absence of pubertal development, Elevated circula... |
OMIM:273250 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hypogonadism, Obesity |
OMIM:601794 |
Baralle-Macken Syndrome |
|
Obesity |
OMIM:619255 |
Tenorio Syndrome |
|
Osteopenia, Joint laxity, Hypoglycemia, Scoliosis, Hypoinsulinemia |
OMIM:616260 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Elevated circula... |
ORPHA:289548 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Decreased response to growth hormone stimulation test, Central diabetes insipidus, Aggressive beh... |
ORPHA:293987 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Skin-picking, Abnormal temper ta... |
ORPHA:163681 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Adrenal hypoplasia, Elevated circulating luteinizing hormon... |
ORPHA:168558 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity |
ORPHA:363741 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repetitive manneri... |
OMIM:615873 |
Microtriplication 11Q24.1 |
|
Obesity, Bruxism |
ORPHA:289522 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Decreased... |
OMIM:228300 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Short neck, Limitation of joint mobility, A... |
ORPHA:2570 |
Bile Acid Synthesis Defect, Congenital, 1 |
|
Failure to thrive, Rickets |
OMIM:607765 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Generalized joint laxity, Increased body weight |
ORPHA:589905 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, G... |
ORPHA:52901 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Umbilical hernia, Obesity |
ORPHA:171839 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... |
ORPHA:508 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Truncal obesity, Hypogonadism, Flexion contracture of digit,... |
ORPHA:3041 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity |
OMIM:618124 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Kyphosis, ... |
ORPHA:99413 |
Turner Syndrome |
|
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Kyphosis, ... |
ORPHA:881 |
Mosaic Monosomy X |
|
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Kyphosis, ... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Short neck, Kyphosis, ... |
ORPHA:99226 |
Fanconi Renotubular Syndrome 1 |
|
Rickets, Osteomalacia, Glycosuria |
OMIM:134600 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysph... |
ORPHA:98794 |
Desbuquois Dysplasia 1 |
|
Joint laxity, Short neck, Hyperlordosis, Kyphosis, Osteoarthritis, Osteoporosis, Advanced ossific... |
OMIM:251450 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased circulating luteinizing hormone level, Decreased circulating follicle stimulating hormo... |
OMIM:614897 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Aggressive behavior, Disproportionate tall stature, Abdominal obesity, Attention deficit hyperact... |
OMIM:301039 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Obesity |
OMIM:605231 |
Renal Tubular Acidosis Iii |
|
Rickets, Osteomalacia |
OMIM:267200 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Puberty and gonadal disorders, Obesity |
ORPHA:464282 |
Momo Syndrome |
|
Large for gestational age, Abnormality of the thyroid gland, Short neck, Obesity, Overgrowth, Abn... |
ORPHA:2563 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Pica, Obesity, Aggressive behavior |
OMIM:620191 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Xp22.13P22.2 Duplication Syndrome |
|
Truncal obesity, Congenital diaphragmatic hernia, Umbilical hernia, Attention deficit hyperactivi... |
ORPHA:284180 |
Idiopathic Neonatal Atrial Flutter |
|
Maternal diabetes, Large for gestational age |
ORPHA:45452 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Aggressive behavior, Abdominal obesity, Hypogonadism, Delayed puberty |
OMIM:300354 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
Tatton-Brown-Rahman Syndrome |
|
Aggressive behavior, Obesity, Proportionate tall stature, Umbilical hernia, Neuroendocrine neoplasm |
ORPHA:404443 |
Raine Syndrome |
|
Increased bone mineral density, Short neck, Subperiosteal bone formation, Arthrogryposis multiple... |
OMIM:259775 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hypergonadotropic hypogonadism, Obesity |
OMIM:619737 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Increased circulating gonadotropin level, Decreased serum estradiol, Male hypogonad... |
ORPHA:168563 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Obesity, Aggressive behavior |
OMIM:619056 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Cervical kyphosis, Type II diabetes mellitus, Short neck |
ORPHA:401923 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Hemivertebrae, Obesity, Abnormal form of the vertebral bodies,... |
ORPHA:2180 |
48,Xxxy Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Short neck, Obesity, Joint hyperflexibility, ... |
ORPHA:96263 |
Atkin-Flaitz Syndrome |
|
Obesity |
ORPHA:1193 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Rickets, Recurrent fractures, Glycosuria |
OMIM:268315 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity |
OMIM:615633 |
Wagr Syndrome |
|
Obesity |
ORPHA:893 |
Laurence-Moon Syndrome |
|
Obesity |
OMIM:245800 |
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia |
|
Decreased circulating follicle stimulating hormone concentration, Decreased serum testosterone co... |
OMIM:614839 |
19P13.12 Microdeletion Syndrome |
|
Craniosynostosis, Short neck, Precocious puberty, Kyphosis, Obesity, Scoliosis, Arthrogryposis mu... |
ORPHA:254346 |
Osteopetrosis, Autosomal Recessive 5 |
|
Increased bone mineral density, Cranial hyperostosis, Decreased osteoclast count, Osteopetrosis |
OMIM:259720 |
Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Attention deficit hyperactivity di... |
OMIM:619312 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Rickets, Osteomalacia |
ORPHA:89937 |
Neu-Laxova Syndrome |
|
Osteopenia, Osteomalacia, Flexion contracture, Osteoporosis, Rickets, Hypogonadism, Scoliosis, Ar... |
ORPHA:2671 |
Rett Syndrome |
|
Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitive mannerisms, Stereotypic... |
ORPHA:778 |
Leukocyte Adhesion Deficiency, Type Iii |
|
Osteopetrosis |
OMIM:612840 |
Clark-Baraitser syndrome |
|
Obesity, Tall stature |
OMIM:300602 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Osteopetrosis |
OMIM:618541 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Inguinal hernia, Hypoglycemia, Small for gestational age, Rickets, Redu... |
OMIM:613658 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Obesity, Pseudohypoparathyroidism |
ORPHA:464288 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Hyperactivity, Decreased body weight, Obesity, Dysphagia |
ORPHA:589821 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Obesity |
OMIM:618821 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Failure to thrive, Rickets |
ORPHA:79303 |
Gaucher Disease |
|
Osteopenia, Increased bone mineral density, Osteomyelitis, Recurrent fractures, Joint stiffness, ... |
ORPHA:355 |
Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Precocious puberty, Hypothyroidism, Obesity, Self-injurious behavio... |
ORPHA:819 |
Cleidocranial Dysplasia 1 |
|
Increased bone mineral density, Kyphosis, Increased susceptibility to fractures, Spondylolysis, S... |
OMIM:119600 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight |
ORPHA:890 |
Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Small for gestational age, Truncal obesity, Hypogonadism, Attention deficit hypera... |
ORPHA:73272 |
Familial Glucocorticoid Deficiency |
|
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... |
ORPHA:361 |
Renal Tubular Acidosis, Distal, 1 |
|
Pathologic fracture, Osteomalacia |
OMIM:179800 |
Septo-Optic Dysplasia Spectrum |
|
Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Polydipsia, Abnormality of the hypotha... |
ORPHA:3157 |
X-Linked Intellectual Disability, Stevenson Type |
|
Obesity, Tall stature |
ORPHA:85325 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
Atelis Syndrome 2 |
|
Kyphosis, Sacral dimple, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... |
OMIM:620185 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Increased body weight, Scoliosis |
OMIM:182290 |
Distal 16P11.2 Microdeletion Syndrome |
|
Obesity, Attention deficit hyperactivity disorder |
ORPHA:261222 |
Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Inguinal hernia, Camptodactyly of finger, Cachexia, Aggressive behavior, Obesity, ... |
ORPHA:85293 |
Carpenter Syndrome 1 |
|
Omphalocele, Sacral dimple, Sagittal craniosynostosis, Short neck, Precocious puberty, Spina bifi... |
OMIM:201000 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Delayed puberty, Osteolysis, Increased susceptibility to fractures |
ORPHA:77261 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Congenital diaphragmatic hernia, Obesity, Scoliosis, Failure to thrive, Abnorma... |
ORPHA:261197 |
Cornelia De Lange Syndrome 5 |
|
Truncal obesity, Hypogonadism |
OMIM:300882 |
Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Obesity |
ORPHA:86816 |
Congenital Myopathy 9A |
|
Obesity |
OMIM:618822 |
Laron Syndrome |
|
Abnormality of the endocrine system, Truncal obesity, Delayed puberty |
ORPHA:633 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia, Hypogonadism, Obesity |
OMIM:615994 |
2Q37 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Compulsive be... |
ORPHA:1001 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Decreased serum testosterone concentration, Failure to thrive, Hypogonadism |
OMIM:201100 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypoglycemia, Osteoporosis, Increased body weight, Fasting hypoglycemia, Delayed puberty, Failure... |
ORPHA:264580 |
Infantile Nephropathic Cystinosis |
|
Failure to thrive, Rickets, Abnormality of thyroid physiology, Glycosuria |
ORPHA:411629 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Recurrent hand flapping, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:619680 |
Distal Triplication 15Q |
|
Craniosynostosis, Large for gestational age, Kyphosis, Birth length greater than 97th percentile,... |
ORPHA:314588 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Overgrowth, Obesity, Aggressive behavior |
OMIM:620250 |
White-Sutton Syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, Self-injurious beha... |
OMIM:616364 |
Occipital Horn Syndrome |
|
Osteopenia, Inguinal hernia, Femoral hernia, Osteomalacia, Scarring, Hiatus hernia, Kyphosis, Ost... |
ORPHA:198 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Obesity |
OMIM:618620 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Achilles tendon contracture, Obesity |
OMIM:615418 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Hypoglycemia, Increased circulating AC... |
ORPHA:90790 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
Blomstrand Lethal Chondrodysplasia |
|
Increased bone mineral density, Synostosis of joints, Platyspondyly |
ORPHA:50945 |
Megalencephaly |
|
Truncal obesity |
ORPHA:2477 |
Williams Syndrome |
|
Osteopenia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Abnormality of ... |
ORPHA:904 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Hypothyroidism, Polyphagia, Obesity, Self-injurious behavior, Hypogonadi... |
ORPHA:1606 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Inc... |
ORPHA:251510 |
Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
Down Syndrome |
|
Joint laxity, Short neck, Obesity, Type II diabetes mellitus, Umbilical hernia, Hypothyroidism |
ORPHA:870 |
Den Hoed-De Boer-Voisin Syndrome |
|
Overweight, Obesity, Dysphagia, Agitation, Decreased body weight, Enamel hypoplasia, Abnormal rep... |
OMIM:619229 |
Dent Disease |
|
Recurrent fractures, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
ORPHA:1652 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Truncal obesity |
OMIM:300957 |
Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Ketotic hypoglycemia, Osteoporosis, Increased body weight, Recurrent hypoglycemia, Fasting hypogl... |
ORPHA:79240 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Failure to thrive, Obesity |
OMIM:610543 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Camptodactyly of finger, Osteomalacia, Kyphosis, Rickets, Corneal scarring, Ke... |
OMIM:309000 |
Wilson Disease |
|
Back pain, Increased body weight, Weight loss, Arthritis, Pathologic fracture, Failure to thrive |
ORPHA:905 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss, Osteoporosis, Osteomalacia, Rickets |
ORPHA:309031 |
Pde4D Haploinsufficiency Syndrome |
|
Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Obesity |
ORPHA:439822 |
1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... |
OMIM:614098 |
Pmm2-Cdg |
|
Osteopenia, Joint laxity, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrop... |
ORPHA:79318 |
White-Sutton Syndrome |
|
Ventral hernia, Hyperactivity, Inguinal hernia, Congenital diaphragmatic hernia, Aggressive behav... |
ORPHA:468678 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... |
ORPHA:91355 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
X-Linked Intellectual Disability, Hedera Type |
|
Obesity |
ORPHA:93952 |
Sotos Syndrome |
|
Joint laxity, Tall stature, Increased body weight, Glucose intolerance, Overgrowth, Scoliosis, Ne... |
OMIM:117550 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Osteopetrosis |
ORPHA:3240 |
Sclerosteosis 1 |
|
Sclerotic scapulae, Facial palsy secondary to cranial hyperostosis, Overgrowth, Sclerotic vertebr... |
OMIM:269500 |
Mullerian Aplasia And Hyperandrogenism |
|
Increased circulating dehydroepiandrosterone-sulfate concentration, Increased circulating androst... |
OMIM:158330 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Obesity |
OMIM:194072 |
Primary Hyperoxaluria |
|
Generalized osteosclerosis, Failure to thrive, Recurrent fractures |
ORPHA:416 |
Ring Chromosome Y Syndrome |
|
Male hypogonadism, Streak ovary, Obesity |
ORPHA:261529 |
Kleefstra Syndrome 1 |
|
Abnormal repetitive mannerisms, Obesity, Compulsive behaviors, Aggressive behavior |
OMIM:610253 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Decreased res... |
ORPHA:293978 |
Macrocephaly/Autism Syndrome |
|
Overgrowth, Obesity, Large for gestational age |
OMIM:605309 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Inguinal hernia, Recurrent fractures, Osteomalacia, Joint stiffness, Abnorma... |
ORPHA:534 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Aggressive behavior, Hypothyroidism, Obesity, Congenital hypothyroidism,... |
OMIM:607872 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Small for gestational age, Kyphoscoliosis, Hemivertebrae, Scoliosis, Um... |
ORPHA:97360 |
Joubert Syndrome 37 |
|
Obesity |
OMIM:619185 |
Hyperoxaluria, Primary, Type I |
|
Pathologic fracture, Increased bone mineral density |
OMIM:259900 |
Leydig Cell Hypoplasia |
|
Hypergonadotropic hypogonadism, Female hypogonadism, Increased circulating gonadotropin level, Ab... |
ORPHA:755 |
Osteopetrosis, Autosomal Recessive 3 |
|
Osteopetrosis, Cranial hyperostosis, Diaphyseal sclerosis |
OMIM:259730 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Obesity |
OMIM:615630 |
Kleefstra Syndrome |
|
Aggressive behavior, Obesity, Self-injurious behavior, Hernia, Abnormal repetitive mannerisms, Se... |
ORPHA:261494 |
Alström Syndrome |
|
Thoracic scoliosis, Precocious puberty in females, Decreased response to growth hormone stimulati... |
ORPHA:64 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight, Short neck |
OMIM:300860 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia |
ORPHA:254534 |
8P23.1 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disorder, Weight loss |
ORPHA:251071 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Truncal obesity, Abdominal obesity, Type II diabetes mellitus |
OMIM:615812 |
Borjeson-Forssman-Lehmann Syndrome |
|
Camptodactyly of toe, Truncal obesity, Hypogonadism |
ORPHA:127 |
Primary Fanconi Renotubular Syndrome |
|
Hypoglycemia, Osteomalacia, Increased susceptibility to fractures, Weight loss, Glycosuria, Hypop... |
ORPHA:3337 |
Adiposis Dolorosa |
|
Hypothyroidism, Obesity |
ORPHA:36397 |
Angelman Syndrome |
|
Hyperactivity, Paroxysmal bursts of laughter, Obesity |
OMIM:105830 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Rickets |
OMIM:219900 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Abnormality of the diencephalon, Reduced bone mineral density |
ORPHA:2720 |
Distal Renal Tubular Acidosis |
|
Osteomalacia, Rickets, Increased susceptibility to fractures, Reduced bone mineral density, Failu... |
ORPHA:18 |
Wilson Disease |
|
Hypoparathyroidism, Osteomalacia, Osteoarthritis, Osteoporosis, Glycosuria, Chondrocalcinosis, Jo... |
OMIM:277900 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Obesity, Craniosynostosis, Short neck |
ORPHA:251038 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Radial club hand, Abnormality of the diencephalon |
ORPHA:2165 |
Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Hypogonadism, Obesity |
ORPHA:110 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Hypoglycemia, Precocious puberty, Increase... |
ORPHA:786 |
Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Diabetes mellitus, Obesity |
ORPHA:69663 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Diabetes mellitus, Obesity, Hypogonadism, Pathologic fracture |
OMIM:614231 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Obesity, Compulsive behaviors |
OMIM:618443 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Failure to thrive, Femoral hernia, Obesity |
ORPHA:96147 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Precocious puberty, Obesity, Premature adrenarche |
ORPHA:813 |
Cystinosis, Nephropathic |
|
Diabetes mellitus, Failure to thrive in infancy, Rickets, Weight loss, Glycosuria, Primary hypoth... |
OMIM:219800 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Osteopenia, Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Osteomalacia,... |
ORPHA:2636 |
Webb-Dattani Syndrome |
|
Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Adrenocorti... |
OMIM:615926 |
Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Failure to thrive, Flexion contracture, Decreased serum leptin |
OMIM:614008 |
Ataxia-Oculomotor Apraxia 4 |
|
Obesity |
OMIM:616267 |
Familial Hypocalciuric Hypercalcemia |
|
Lipoma, Osteomalacia, Chondrocalcinosis |
ORPHA:405 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Hemivertebrae, Decreased circulating renin level, Humerorad... |
OMIM:201750 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Increased circulating gonadotropin level, Obesity, Scoliosis, Delayed puberty, Decr... |
ORPHA:1772 |
Momo Syndrome |
|
Overgrowth, Obesity |
OMIM:157980 |
Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... |
ORPHA:177907 |
Faciocardiomelic Syndrome |
|
Osteopenia, Cuboid-shaped vertebral bodies, Thin bony cortex, Large for gestational age |
OMIM:612731 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperacti... |
OMIM:616078 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Osteopetrosis |
OMIM:612301 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Elbow flexion contracture, Obesity |
OMIM:618493 |
Dysbetalipoproteinemia |
|
Diabetes mellitus, Hypothyroidism, Obesity, Gout |
ORPHA:412 |
Rabin-Pappas Syndrome |
|
Overgrowth, Obesity, Failure to thrive in infancy |
OMIM:620155 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Aggressive behavior, Obesity, Self-injurious behavior, Truncal obesity, Attention deficit hyperac... |
ORPHA:466950 |
Peripartum Cardiomyopathy |
|
Abnormality of thyroid physiology, Diabetes mellitus, Obesity |
ORPHA:563 |
Osteopetrosis With Renal Tubular Acidosis |
|
Osteopetrosis, Failure to thrive, Recurrent fractures, Secondary hyperparathyroidism |
ORPHA:2785 |
Methemoglobinemia And Ambiguous Genitalia |
|
Decreased circulating dehydroepiandrosterone-sulfate concentration, Elevated circulating luteiniz... |
OMIM:250790 |
Cohen Syndrome |
|
Small for gestational age, Childhood-onset truncal obesity, Decreased response to growth hormone ... |
OMIM:216550 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Obesity, Dysphagia |
ORPHA:2822 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Obesity, Truncal obesity, Abdominal obesity, H... |
OMIM:209900 |
Distal Deletion 12Q |
|
Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the yo... |
ORPHA:96149 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Overweight, Small for gestational age, Obesity |
ORPHA:26793 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Increased density of long bones, Short neck, Sclerosis of skull base, Fa... |
OMIM:269150 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity |
ORPHA:3224 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Abnormality of the pineal gland, Aggressive behavior, Tongue thrusting, Obesity, Compulsive behav... |
ORPHA:369950 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Aggressive behavior, Precocious puberty, Obesity, Umbilical hernia, Abnormal repetitive mannerisms |
OMIM:301066 |
Joubert Syndrome 8 |
|
Obesity |
OMIM:612291 |
Ulnar-Mammary Syndrome |
|
Camptodactyly of finger, Hernia of the abdominal wall, Obesity, Delayed puberty |
ORPHA:3138 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity |
OMIM:608624 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Truncal obesity, Inguinal hernia, Diabetes mellitus, Hypothyroidism |
OMIM:616541 |
Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Obesity |
OMIM:617296 |
Achondroplasia |
|
Obesity |
ORPHA:15 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Obesity |
OMIM:615989 |
Generalized Pustular Psoriasis |
|
Overweight, Obesity |
ORPHA:247353 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Restrictive behavior, Hyperactivity, Failure to thrive, Impulsivity, Aggressive behavior, Overwei... |
OMIM:619475 |
Cohen Syndrome |
|
Failure to thrive in infancy, Obesity, Delayed puberty |
ORPHA:193 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperactivity disorder, ... |
ORPHA:466943 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Abnormal repetitive mannerisms, Obesity |
OMIM:618653 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Truncal obesity, Attention deficit hyperactivity disorder |
ORPHA:2637 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Autosomal Recessive Malignant Osteopetrosis |
|
Osteopetrosis, Recurrent fractures, Craniosynostosis, Reduced bone mineral density |
ORPHA:667 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Precocious puberty, Truncal obesity, Enamel hypoplasia, Type II diabetes mellitus |
OMIM:210720 |
Monosomy 13Q34 |
|
Obesity |
ORPHA:96168 |
Liver Disease, Severe Congenital |
|
Joint laxity, Inguinal hernia, Abnormal circulating thyroid hormone concentration, Hyperinsulinem... |
OMIM:619991 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Obesity |
OMIM:614947 |
Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
Gaisböck Syndrome |
|
Diabetes mellitus, Overweight, Obesity, Gout, Increased circulating renin level |
ORPHA:90041 |
Carney Complex |
|
Tall stature, Euthyroid multinodular goiter, Dorsocervical fat pad, Follicular thyroid carcinoma,... |
ORPHA:1359 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Bloom Syndrome |
|
Adipose tissue loss, Abdominal obesity, Diabetes mellitus, Small for gestational age |
ORPHA:125 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Precocious puberty, Obesity |
ORPHA:369837 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Obesity |
ORPHA:209902 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Self-in... |
ORPHA:353281 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity |
ORPHA:319675 |
Diamond-Blackfan Anemia 21 |
|
Obesity |
OMIM:620072 |
Chops Syndrome |
|
Obesity |
OMIM:616368 |
White-Kernohan Syndrome |
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Hypothyroidism, Obesity, Attention deficit hyperactivity disorder |
OMIM:619426 |
Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling, Obesity, Bruxism, Umbilical hernia |
ORPHA:48652 |
Kabuki Syndrome |
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Precocious puberty, Failure to thrive, Obesity, Congenital diaphragmatic hernia |
ORPHA:2322 |
Neutral Lipid Storage Disease With Ichthyosis |
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Obesity |
ORPHA:98907 |
22Q11.2 Deletion Syndrome |
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Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Obesity,... |
ORPHA:567 |
Generalized Arterial Calcification Of Infancy |
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Failure to thrive in infancy, Adrenal calcification, Osteomalacia, Abnormal calcification of the ... |
ORPHA:51608 |
Xylt1-Cdg |
|
Truncal obesity |
ORPHA:370930 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Adrenocortical cytomegaly, Inguinal hernia, Congenital diaphragmatic hernia, Large f... |
ORPHA:116 |
Desbuquois Dysplasia 2 |
|
Truncal obesity |
OMIM:615777 |
17Q24.2 Microdeletion Syndrome |
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Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b... |
ORPHA:529962 |
Bardet-Biedl Syndrome 20 |
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Male hypogonadism, Obesity |
OMIM:619471 |
Immunodeficiency 82 With Systemic Inflammation |
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Arthritis, Osteomyelitis, Osteomalacia, Weight loss |
OMIM:619381 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Obesity |
OMIM:250420 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
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Adrenal hyperplasia, Increased circulating dehydroepiandrosterone-sulfate concentration, Increase... |
OMIM:201810 |
46,Xx Sex Reversal 2 |
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Decreased serum testosterone concentration |
OMIM:278850 |
Digeorge Syndrome |
|
Inguinal hernia, Parathyroid agenesis, Femoral hernia, Decreased circulating parathyroid hormone ... |
OMIM:188400 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Truncal obesity, Flexion contracture, Limb joint contracture |
OMIM:301072 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
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Decreased serum testosterone concentration, Short neck |
ORPHA:495875 |
Testicular Agenesis |
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Increased circulating gonadotropin level, Decreased serum testosterone concentration |
ORPHA:325124 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Obesity, Corneal... |
ORPHA:353277 |
Leukocyte Adhesion Deficiency |
|
Coronal craniosynostosis, Osteomyelitis, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
Hutchinson-Gilford Progeria Syndrome |
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Female hypogonadism, Decreased serum leptin, Absence of subcutaneous fat, Weight loss, Severe fai... |
ORPHA:740 |
Hellp Syndrome |
|
Back pain, Increased body weight |
ORPHA:244242 |
Neutral Lipid Storage Myopathy |
|
Diabetes mellitus, Obesity, Pineal cyst |
ORPHA:98908 |
Rubinstein-Taybi Syndrome 1 |
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Hyperactivity, Small for gestational age, Impulsivity, Premature thelarche, Flexion contracture, ... |
OMIM:180849 |
Witteveen-Kolk Syndrome |
|
Hyperactivity, Inguinal hernia, Small for gestational age, Decreased response to growth hormone s... |
OMIM:613406 |
Myhre Syndrome |
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Small for gestational age, Obesity, Camptodactyly |
OMIM:139210 |
Norrie Disease |
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Diabetes mellitus, Cachexia, Abnormality of the diencephalon, Scoliosis, Delayed puberty, Failure... |
ORPHA:649 |
Ulnar-Mammary Syndrome |
|
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 |
|
Hypothyroidism, Obesity, Decreased response to growth hormone stimulation test |
ORPHA:444077 |
Primrose Syndrome |
|
Restlessness, Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Aggressive beha... |
OMIM:259050 |
Williams-Beuren Syndrome |
|
Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Flexion contracture, Obesity, E... |
OMIM:194050 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Failure to thrive, Obesity, Pseudohypoparathyroidism |
OMIM:617157 |
6Q Terminal Deletion Syndrome |
|
Failure to thrive, Obesity |
ORPHA:75857 |
Carpenter Syndrome 2 |
|
Umbilical hernia, Obesity, Camptodactyly, Knee flexion contracture |
OMIM:614976 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Abdominal obesity, Hypoplasia of the ovary, Flexion contracture |
OMIM:619321 |
Lysinuric Protein Intolerance |
|
Truncal obesity, Failure to thrive |
OMIM:222700 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Self-injurious behavior, Truncal obesity, Camptodactyly, Failure to thrive, Abnormal repetitive m... |
OMIM:612474 |
Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Truncal obesity, Compulsive behaviors, Attention deficit hyperac... |
ORPHA:199 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hyperactivity, Hypogonadism, Paroxysmal bursts of laughter, Obesity |
OMIM:309580 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Obesity |
ORPHA:70591 |
Tako-Tsubo Cardiomyopathy |
|
Obesity |
ORPHA:66529 |
Pallister-Killian Syndrome |
|
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Obesity, Camp... |
OMIM:601803 |