| Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
| Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
| Type 2 Diabetes Mellitus |
|
Type II diabetes mellitus, Insulin resistance, Increased waist to hip ratio |
OMIM:125853 |
| Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
| Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
| Diabetes Mellitus, Transient Neonatal, 2 |
|
Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
| Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Increased adipose tissue, Hyperinsulinemia, Obesity, Polyphagia, Type II diabetes mellitus, Child... |
ORPHA:71529 |
| Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
| Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
| Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... |
OMIM:205950 |
| Body Mass Index Quantitative Trait Locus 20 |
|
Increased bone mineral density, Hyperinsulinemia, Obesity, Polyphagia, Tall stature |
OMIM:618406 |
| Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
ORPHA:231720 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
| Pancreatic Beta Cell Agenesis With Neonatal Diabetes Mellitus |
|
Neonatal insulin-dependent diabetes mellitus |
OMIM:600089 |
| Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
| Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... |
OMIM:187800 |
| Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Abnormal circulating ins... |
ORPHA:171706 |
| Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
| Multiple Symmetric Lipomatosis |
|
Multiple lipomas, Insulin resistance, Abnormal adipose tissue morphology, Joint stiffness |
ORPHA:2398 |
| Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... |
ORPHA:369873 |
| Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
| Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
| Coronary Artery Disease, Autosomal Dominant, 1 |
|
Diabetes mellitus, Obesity |
OMIM:608320 |
| Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... |
OMIM:601820 |
| Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Obesity And Hypopigmentation |
|
Polyphagia, Overgrowth, Hyperinsulinemia, Obesity |
OMIM:620195 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia |
ORPHA:329249 |
| Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
| Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... |
ORPHA:324575 |
| Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
| Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery... |
OMIM:206100 |
| Body Mass Index Quantitative Trait Locus 19 |
|
Insulin resistance, Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
| Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
| Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
| Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
| Pituitary Stalk Interruption Syndrome |
|
Ectopic posterior pituitary, Failure to thrive, Adrenal hypoplasia, Hypothyroidism, Cryptorchidis... |
ORPHA:95496 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Polyphagia, Hypoglycemic seizures... |
ORPHA:276580 |
| Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
| Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
| Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 |
|
Decreased thalamic volume |
OMIM:618646 |
| Morbid Obesity And Spermatogenic Failure |
|
Type II diabetes mellitus, Insulin resistance, Obesity |
OMIM:615703 |
| Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Type I diabetes mellitus, Agi... |
ORPHA:276575 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
| Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
ORPHA:67045 |
| Dystonia 30 |
|
Hypothalamic hamartoma |
OMIM:619291 |
| Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, H... |
ORPHA:280356 |
| Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
| Leptin Deficiency Or Dysfunction |
|
Polyphagia, Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
| Familial Partial Lipodystrophy, Köbberling Type |
|
Lipoatrophy, Insulin resistance, Diabetes mellitus, Hyperinsulinemia |
ORPHA:79084 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Joint laxity, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Delayed thelarche, Hyperins... |
OMIM:616033 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
| Obesity Due To Congenital Leptin Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:66628 |
| Akt2-Related Familial Partial Lipodystrophy |
|
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin resistance, Insulin-r... |
ORPHA:79085 |
| Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
| Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Abnormal circulating insulin concentration, H... |
ORPHA:293964 |
| Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
| Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
| Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... |
ORPHA:179494 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent hypoglycemia, ... |
ORPHA:276556 |
| Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
| Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... |
OMIM:613986 |
| Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
| Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
| Non-24-Hour Sleep-Wake Syndrome |
|
Abnormal pineal melatonin secretion |
ORPHA:73267 |
| Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Hypogonadism, Hypopit... |
OMIM:615849 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Hypothyroidism |
OMIM:275120 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Hydr... |
ORPHA:54595 |
| Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
| Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Failure to thrive, Decreased thalamic volume |
OMIM:613668 |
| Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
| Lipodystrophy, Familial Partial, Type 4 |
|
Insulin resistance, Lipoatrophy, Insulin-resistant diabetes mellitus, Lipodystrophy |
OMIM:613877 |
| Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:604367 |
| Lipodystrophy, Familial Partial, Type 6 |
|
Insulin resistance, Diabetes mellitus, Lipodystrophy, Abdominal obesity |
OMIM:615980 |
| Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity |
OMIM:615987 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... |
OMIM:155100 |
| Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435660 |
| Bardet-Biedl Syndrome 22 |
|
Polyphagia, Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
| Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
| Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... |
ORPHA:766 |
| Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Cryptorchidism, Obesity, A... |
ORPHA:398079 |
| Leukoencephalopathy With Vanishing White Matter 5 |
|
Lateral ventricle dilatation, Dilated third ventricle |
OMIM:620315 |
| Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
| Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
| Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
| Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Insulin resistance, Genera... |
OMIM:612526 |
| Coasy Protein-Associated Neurodegeneration |
|
Abnormal thalamus morphology |
ORPHA:397725 |
| 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 |
| Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity, Finger joint hypermobility |
ORPHA:436141 |
| Central Precocious Puberty In Male |
|
Abnormality of the testis size, Pituitary microadenoma, Hydrocephalus, Hypothalamic hamartoma, Ab... |
ORPHA:649929 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
| Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
| Bardet-Biedl Syndrome 18 |
|
Obesity |
OMIM:615995 |
| Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Hypogonadism, Obesity |
OMIM:615981 |
| Bardet-Biedl Syndrome 5 |
|
Hypogonadism, Obesity |
OMIM:615983 |
| Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
| Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
| Duplication Of The Pituitary Gland |
|
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology, Decreased body weight |
ORPHA:314621 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Congenital Generalized Lipodystrophy |
|
Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Adipose tissue loss, Insulin res... |
ORPHA:528 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Hypogonadism, Obesity |
ORPHA:85274 |
| Summitt Syndrome |
|
Obesity |
OMIM:272350 |
| Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Re... |
ORPHA:2495 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
| Iron Overload, Susceptibility To |
|
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
| Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
| Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
| Alexander Disease Type I |
|
Hydrocephalus, Failure to thrive, Abnormal thalamic MRI signal intensity, Cachexia |
ORPHA:363717 |
| Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Aggressive behavior |
OMIM:620270 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Focal T2 hyperintense thalamic lesion, Small for gestational age |
OMIM:619057 |
| Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,... |
OMIM:619476 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
| Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
| Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... |
OMIM:231200 |
| Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
| Estrogen Resistance Syndrome |
|
Osteopenia, Delayed epiphyseal ossification, Absence of secondary sex characteristics, Osteoporos... |
ORPHA:785 |
| Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
| Hyperinsulinism-Hyperammonemia Syndrome |
|
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Attention deficit hyperactivity disorder... |
ORPHA:35878 |
| Acquired Partial Lipodystrophy |
|
Insulin resistance, Lipoatrophy |
ORPHA:79087 |
| Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
| Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose... |
ORPHA:2457 |
| Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased... |
OMIM:617718 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hyperactivity, Reduced intraabdominal adipose tissue, Insuli... |
ORPHA:363400 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
| Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test |
OMIM:615925 |
| 14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder, Polyphagia |
ORPHA:261229 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Hypoglycemia, Small for gestational age, Insulin resistance, Osteoporosis, Truncal... |
ORPHA:73272 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperpl... |
ORPHA:263455 |
| Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypothalamic luteinizing hormone-releasing hormone deficiency, Precocious puberty, Cryptorchidism... |
ORPHA:398069 |
| Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
| Mehmo Syndrome |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A... |
OMIM:300148 |
| Mehmo Syndrome |
|
Diabetes mellitus, Agitation, Obesity |
ORPHA:85282 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
| Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618824 |
| Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
| Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland |
OMIM:614402 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Self-mutilation, Polyphagia, Obesity, Aggressive behavior |
OMIM:616521 |
| Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... |
ORPHA:435651 |
| Type 1 Diabetes Mellitus |
|
Hyperglycemia, Diabetes mellitus, Polydipsia, Polyphagia |
OMIM:222100 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Osteoporosis, Obesity, Absence of pubertal deve... |
OMIM:610628 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Hypogonadotropic hypogonadism, Obesity |
ORPHA:177910 |
| Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Inguinal hernia, Obesity |
OMIM:300209 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Interhypothalamic adhesion, Cryptorchidism, Supernumerary nipple |
OMIM:618929 |
| Microphthalmia, Syndromic 5 |
|
Cryptorchidism, Ectopic posterior pituitary |
OMIM:610125 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
| Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Osteoarthritis, Fasting hy... |
ORPHA:2298 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
| Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
| Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipodystrophy, Insulin resistanc... |
OMIM:615381 |
| Bardet-Biedl Syndrome 9 |
|
Polydipsia, Obesity, Truncal obesity, Hyperglycemia, Polyphagia |
OMIM:615986 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Focal T2 hyperintense thalamic lesion, Hypergonadotropic hypogonadism |
OMIM:613724 |
| Basal Ganglia Calcification, Idiopathic, 5 |
|
Thalamic calcification |
OMIM:615483 |
| Genetic Hyperferritinemia Without Iron Overload |
|
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
| Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
| 11P15.4 Microduplication Syndrome |
|
Obesity, Aggressive behavior |
ORPHA:300305 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Neurodevelopmental Disorder With Seizures And Brain Atrophy |
|
Decreased thalamic volume |
OMIM:619072 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Increased subcutaneous truncal adipo... |
OMIM:608600 |
| Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
| Perlman Syndrome |
|
Inguinal hernia, Hyperinsulinemia, Femoral hernia, Tall stature |
ORPHA:2849 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Acroosteolysi... |
OMIM:608612 |
| Familial Renal Glucosuria |
|
Insulin resistance, Abnormal circulating insulin concentration, Glycosuria, Hyperglycemia, Abnorm... |
ORPHA:69076 |
| Short Stature, Dauber-Argente Type |
|
Osteopenia, Fasting hyperinsulinemia, Reduced bone mineral density |
OMIM:619489 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Failure to thrive, Small for gestational age, Insulin resistance, Flexion contracture, Elbow flex... |
OMIM:214150 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Thalamic calcification |
OMIM:618317 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... |
OMIM:210250 |
| Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
| Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:88643 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
| Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Hypogonadism, Skin-picki... |
OMIM:615547 |
| Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... |
ORPHA:2234 |
| Xq27.3Q28 Duplication Syndrome |
|
Truncal obesity, Failure to thrive, Hypogonadism |
ORPHA:261483 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Insulin resistance, Insulin-resistant diabetes mellitus, Elevated circulating growth hormone conc... |
ORPHA:90301 |
| Autosomal Recessive Spastic Paraplegia Type 11 |
|
Hypothalamic atrophy, Lateral ventricle dilatation, Obesity, Overweight |
ORPHA:2822 |
| Lipodystrophy, Familial Partial, Type 5 |
|
Diabetic ketoacidosis, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin |
OMIM:615238 |
| Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
| Temple Syndrome |
|
Small for gestational age, Maturity-onset diabetes of the young, Precocious puberty, Overweight, ... |
OMIM:616222 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Male hypogonadism, Hyperglycemia, Hypergonadotropic hypogonadism, Glucose intolerance |
OMIM:307500 |
| Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty |
ORPHA:141333 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Polyphagia, Hyperactivity, Inappropriate laughter, Obesity |
ORPHA:411515 |
| Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Childhood-onset truncal obesity |
OMIM:610156 |
| Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Osteoar... |
ORPHA:77296 |
| Craniosynostosis 4 |
|
Ectopic posterior pituitary |
OMIM:600775 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98793 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:98754 |
| Estrogen Resistance |
|
Osteopenia, Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia... |
OMIM:615363 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177904 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... |
ORPHA:177901 |
| Blue Diaper Syndrome |
|
Elevated circulating thyroid-stimulating hormone concentration, Increased body weight, Increased ... |
ORPHA:94086 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Adrenal hyperplasia, Diabetes mellitus, Dorsocervical fat pad, Osteoporosis, Increase... |
OMIM:615830 |
| Short Syndrome |
|
Joint laxity, Inguinal hernia, Lipoatrophy, Lipodystrophy, Small for gestational age, Insulin res... |
OMIM:269880 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
T2 hypointense thalamus |
OMIM:618193 |
| Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Joint hypermobility |
ORPHA:254531 |
| Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Diabetes mellitus, Lipodystroph... |
OMIM:608594 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... |
OMIM:151660 |
| Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Obesity |
OMIM:605231 |
| Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity |
OMIM:604931 |
| Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Fusion of the left and right thalami, Hydrocephalus |
OMIM:617542 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Osteopenia, Li... |
OMIM:248370 |
| Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
| Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
| Lipodystrophy, Congenital Generalized, Type 4 |
|
Osteopenia, Lipodystrophy, Insulin resistance, Flexion contracture, Osteoporosis, Hyperinsulinemi... |
OMIM:613327 |
| Tubulinopathy-Associated Dysgyria |
|
Abnormal thalamus morphology, Ventriculomegaly |
ORPHA:467166 |
| 6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
| Bardet-Biedl Syndrome 16 |
|
Hypogonadism, Obesity |
OMIM:615993 |
| Morm Syndrome |
|
Truncal obesity, Hyperactivity, Aggressive behavior |
ORPHA:75858 |
| Placental Insufficiency |
|
Insulin resistance, Small for gestational age |
ORPHA:439167 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Decr... |
OMIM:615234 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308750 |
| Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Severe failure to thrive, Pancreatic i... |
OMIM:246200 |
| Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... |
ORPHA:3163 |
| Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Failure to thrive, Polyphagia, Decreased body weight |
OMIM:620085 |
| Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism, Hypoplasia of the ovary, ... |
OMIM:618841 |
| Huntington Disease |
|
Oral-pharyngeal dysphagia, Aggressive behavior, Weight loss, Addictive alcohol use, Agitation, Co... |
ORPHA:399 |
| Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
| Pseudohypoparathyroidism, Type Ib |
|
Elevated circulating parathyroid hormone level, Obesity, Pseudohypoparathyroidism |
OMIM:603233 |
| X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis, Splenomegaly, Anemia |
ORPHA:75563 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:95494 |
| Aromatase Deficiency |
|
Osteopenia, Eunuchoid habitus, Hypergonadotropic hypogonadism, Delayed epiphyseal ossification, I... |
ORPHA:91 |
| Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron |
OMIM:603358 |
| Galactokinase Deficiency |
|
Small for gestational age, Hypergonadotropic hypogonadism, Hypoglycemia, Hyperinsulinemia, Failur... |
ORPHA:79237 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
| Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Cystic angiomatosis of bone, Lipodystrophy, Reduced intraabd... |
OMIM:269700 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia |
ORPHA:163690 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Cryptorchidism, Hypothyroidism, Hypothalamic hamartoma |
OMIM:619908 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... |
ORPHA:280365 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concen... |
OMIM:610489 |
| Werner Syndrome |
|
Increased bone mineral density, Lipoatrophy, Lipodystrophy, Joint stiffness, Insulin resistance, ... |
ORPHA:902 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Obesity, Advanced ossification of carpal bones, Congenital hypo... |
OMIM:614613 |
| Semilobar Holoprosencephaly |
|
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... |
ORPHA:220386 |
| X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Lipoma, Obesity, Joint hypermobility, Oral-pharyngeal dysphagia |
ORPHA:480907 |
| 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 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Lipodystrophy, Insu... |
ORPHA:2348 |
| Laurence-Moon Syndrome |
|
Type II diabetes mellitus, Obesity |
ORPHA:2377 |
| 48,Xxyy Syndrome |
|
Inguinal hernia, Hypergonadotropic hypogonadism, Abnormal dental enamel morphology, Obesity, Join... |
ORPHA:10 |
| Bardet-Biedl Syndrome 4 |
|
Hypogonadism, Obesity |
OMIM:615982 |
| Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity |
OMIM:615985 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95513 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Diabetes mellitus, Lipoatrophy, Maternal diabetes, ... |
ORPHA:79083 |
| Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to... |
OMIM:606407 |
| Immunodeficiency 61 |
|
Arthritis, Obesity, Attention deficit hyperactivity disorder |
OMIM:300310 |
| Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Osteoporosis, Pseudohypoparathyroidism, Obesity |
OMIM:612463 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot... |
ORPHA:95512 |
| Chung-Jansen Syndrome |
|
Impulsivity, Aggressive behavior, Obesity, Attention deficit hyperactivity disorder, Joint hyperm... |
OMIM:617991 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors |
ORPHA:444002 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secreti... |
OMIM:610475 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:618160 |
| Familial Multiple Lipomatosis |
|
Overgrowth, Insulin resistance, Lipodystrophy, Increased adipose tissue |
ORPHA:199276 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Obesity, Type II diabetes mellitus, Synostosis of carpal bones |
ORPHA:3191 |
| Summitt Syndrome |
|
Tall stature, Camptodactyly of finger, Craniosynostosis, Obesity |
ORPHA:3210 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Decreased circulating ACTH concentration, Osteoporosis, Truncal ... |
OMIM:219080 |
| Nephronophthisis 15 |
|
Obesity |
OMIM:614845 |
| 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 |
| Acquired Generalized Lipodystrophy |
|
Insulin-resistant diabetes mellitus, Insulin resistance, Hyperinsulinemia, Unicameral bone cyst, ... |
ORPHA:79086 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:189427 |
| Rafiq Syndrome |
|
Joint laxity, Aggressive behavior, Flexion contracture, Obesity, Truncal obesity, Joint hypermobi... |
OMIM:614202 |
| Abdominal Obesity-Metabolic Syndrome 4 |
|
Type II diabetes mellitus, Obesity |
OMIM:618620 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
| Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Obesity |
OMIM:614651 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... |
OMIM:308700 |
| Hemochromatosis, Type 2B |
|
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Incr... |
OMIM:613313 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Truncal obesity, Abdominal obesity, Type II diabetes mellitus, Hyperglycemia |
OMIM:615812 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad... |
OMIM:300869 |
| Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
| Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Aqueductal stenosis, Cryptorch... |
OMIM:620305 |
| Renal Glucosuria |
|
Polydipsia, Polyphagia, Glycosuria |
OMIM:233100 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Obesity, Delayed puberty |
OMIM:301900 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity |
ORPHA:2183 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Tall stature, Elevated circulating growth hormone concentration, Pituitary adenoma, Increased cir... |
OMIM:300942 |
| Luscan-Lumish Syndrome |
|
Aggressive behavior, Advanced ossification of carpal bones, Obesity, Overgrowth, Polyphagia |
OMIM:616831 |
| Trisomy 5P |
|
Obesity |
ORPHA:1742 |
| Pallister-Hall-Like Syndrome |
|
Anterior hypopituitarism, Hydrocephalus, Hypothalamic hamartoma |
OMIM:241800 |
| Bangstad Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Small for gestational age, Go... |
OMIM:210740 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Focal T2 hyperintense thalamic lesion |
OMIM:619046 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Advanced ossification of carpal bones, Obesity, Truncal obesity... |
OMIM:618363 |
| Prader-Willi Syndrome |
|
Osteopenia, Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious ... |
ORPHA:739 |
| Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
| Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Ectopic ossification, Elevated circulating parathyroid hormo... |
ORPHA:79445 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:300048 |
| Prader-Willi Syndrome |
|
Osteopenia, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
OMIM:176270 |
| Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... |
OMIM:169400 |
| Amoebiasis Due To Free-Living Amoebae |
|
Abnormal hypothalamus morphology, Abnormality of the adrenal glands |
ORPHA:68 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Osteoporosis, Increased circulating ACTH level, Ob... |
OMIM:219090 |
| Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... |
OMIM:212050 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity |
ORPHA:3077 |
| Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci... |
ORPHA:769 |
| Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Osteoporosis, Pseudohypoparathyro... |
OMIM:612462 |
| Alstrom Syndrome |
|
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... |
OMIM:203800 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... |
OMIM:614450 |
| Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity |
ORPHA:2233 |
| Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
| Spinocerebellar Ataxia With Epilepsy |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:254881 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... |
OMIM:604250 |
| Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Hypothyroidism, Obesity, Self-injurious behavior, Skin-pickin... |
OMIM:600430 |
| Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
| Laron Syndrome |
|
Hypoglycemia, Abnormality of the endocrine system, Osteoarthritis, Truncal obesity, Delayed puberty |
ORPHA:633 |
| Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Precocious puberty, Insulin resistance, Obesity, Recurren... |
ORPHA:813 |
| Pediatric-Onset Graves Disease |
|
Hyperactivity, Craniosynostosis, Puberty and gonadal disorders, Thyrotoxicosis with diffuse goite... |
ORPHA:525731 |
| Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Osteoporosis, Obesity, Disproportionate tall stature, H... |
OMIM:615300 |
| Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
| Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
| Mpi-Cdg |
|
Failure to thrive, Hypothyroidism, Hyperinsulinemic hypoglycemia |
ORPHA:79319 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Failure to thrive, Abnormal thalamic MRI signal intensity |
ORPHA:444013 |
| Pseudohypoparathyroidism, Type Ia |
|
Osteoporosis, Pseudohypoparathyroidism, Obesity, Subcutaneous ossification, Elevated circulating ... |
OMIM:103580 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Dilated third ventricle |
OMIM:619725 |
| Urban-Rogers-Meyer Syndrome |
|
Recurrent fractures, Camptodactyly of finger, Osteoporosis, Obesity, Hypogonadism, Flexion contra... |
ORPHA:3409 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum... |
ORPHA:98870 |
| Clark-Baraitser Syndrome |
|
Hyperactivity, Obesity, Aggressive behavior |
OMIM:617752 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
| Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity |
OMIM:619737 |
| Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
| Man1B1-Cdg |
|
Truncal obesity, Polyphagia, Joint hypermobility |
ORPHA:397941 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Recurrent fractures, Abnormal dental enamel morphology, Craniosynostosis, Obesity, Delayed pubert... |
ORPHA:251004 |
| Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Anisocytosis, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating ferritin concent... |
OMIM:616860 |
| Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Increased circulating insu... |
OMIM:270450 |
| Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Lateral ventricle dilatation, Dilated third ventricle, Obesity |
OMIM:617296 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Umbilical hernia, Obesity, Joint hyperflexibility |
ORPHA:1035 |
| Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:352530 |
| Intrahepatic Cholestasis Of Pregnancy |
|
Small for gestational age, Abnormal pineal melatonin secretion, Hypothyroidism |
ORPHA:69665 |
| Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Obesity, Stereotypical hand wringing |
OMIM:619854 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
| Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism |
OMIM:613192 |
| Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
| Familial Acute Necrotizing Encephalopathy |
|
Abnormal thalamus morphology |
ORPHA:88619 |
| 13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Self-m... |
ORPHA:412035 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... |
OMIM:613154 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Insulin resistance, Osteolysis, Generalized lipodystrophy, Osteolytic defects of the distal phala... |
ORPHA:90154 |
| Beta-Thalassemia |
|
Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th... |
ORPHA:848 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating ferritin concentration, Anisopoikilocytosis, Reticulocytopenia, Hepatosplen... |
ORPHA:300298 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Obesity |
ORPHA:397973 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Overweight, Cryptorchidism, Hydrocephalus, Hypogonadism, Dilated third ventric... |
ORPHA:500055 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity |
OMIM:616418 |
| Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity |
ORPHA:254525 |
| Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
T2 hypointense thalamus |
ORPHA:1947 |
| Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary |
ORPHA:98889 |
| Wilson-Turner Syndrome |
|
Truncal obesity, Hypogonadotropic hypogonadism |
ORPHA:3459 |
| Whipple Disease |
|
Cachexia, Anorexia, Insulin resistance, Arthritis, Polydipsia, Hypothyroidism |
ORPHA:3452 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hypogonadism, Obesity |
OMIM:601794 |
| Seckel Syndrome 10 |
|
Diabetes mellitus, Impaired glucose tolerance, Elevated circulating luteinizing hormone level, In... |
OMIM:617253 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Flexion contracture, Obesity, Bruxism, Male hypogonadism, Wrist flexion contracture |
OMIM:300055 |
| Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Glucose intolerance, Impaired glucose tolerance, Obesity |
OMIM:615630 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle |
OMIM:619244 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Insulin resistance, Truncal obesity, Hypothyroidism |
OMIM:616541 |
| Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity |
OMIM:617406 |
| Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Craniosynostosis, Obesity, Joint hypermobility, Aggressive behavior |
OMIM:619056 |
| Oculoskeletodental Syndrome |
|
Abnormal thalamus morphology |
ORPHA:557003 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Camptodactyly of finger |
ORPHA:2928 |
| Spastic Paraplegia 11, Autosomal Recessive |
|
Obesity, Dysphagia |
OMIM:604360 |
| Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity |
ORPHA:363741 |
| Senior-Loken Syndrome 9 |
|
Osteopenia, Hypogonadism, Obesity |
OMIM:616629 |
| Bardet-Biedl Syndrome 19 |
|
Hypogonadism, Obesity |
OMIM:615996 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Umbilical hernia, Radioulnar synostosis, Obesity, Craniosynostosis |
ORPHA:171839 |
| Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Decreased testicular size, Cryptorchidism, Small pituitary gland |
OMIM:614880 |
| Microtriplication 11Q24.1 |
|
Limitation of joint mobility, Obesity, Bruxism |
ORPHA:289522 |
| X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Obesity, Limited shoulder movement |
OMIM:618821 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
| Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Hyperglycemia, In... |
ORPHA:79474 |
| 48,Xxxy Syndrome |
|
Inguinal hernia, Abnormal dental enamel morphology, Obesity, Joint hyperflexibility, Radioulnar s... |
ORPHA:96263 |
| 15Q24 Microdeletion Syndrome |
|
Joint laxity, Small for gestational age, Decreased response to growth hormone stimulation test, C... |
ORPHA:94065 |
| Angelman Syndrome |
|
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel... |
ORPHA:72 |
| Sandhoff Disease, Infantile Form |
|
Abnormal thalamic MRI signal intensity |
ORPHA:309155 |
| Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Reduced bone mineral density |
OMIM:619322 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Obesity, Axillary apocrine gland hypo... |
OMIM:181450 |
| Hjv Or Hamp-Related Hemochromatosis |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:79230 |
| Stankiewicz-Isidor Syndrome |
|
Cryptorchidism, Pineal cyst |
OMIM:617516 |
| Baralle-Macken Syndrome |
|
Obesity |
OMIM:619255 |
| 2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Polyphagia, Paroxysmal bu... |
ORPHA:228402 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip... |
OMIM:606721 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
ORPHA:478 |
| Clark-Baraitser syndrome |
|
Joint laxity, Obesity, Tall stature |
OMIM:300602 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms... |
OMIM:618430 |
| Giant Axonal Neuropathy |
|
Abnormal pituitary gland morphology |
ORPHA:643 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Truncal obesity, Hy... |
ORPHA:3041 |
| Wagro Syndrome |
|
Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Polyphagia |
OMIM:612469 |
| Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
| Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Limited elbow movement, Joint stiffness, Decreased serum leptin, Flexion contracture... |
OMIM:614008 |
| Pseudohypoparathyroidism Type 1C |
|
Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm... |
ORPHA:79444 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Tall stature |
OMIM:618089 |
| Septo-Optic Dysplasia Spectrum |
|
Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Polydipsia, Abnormality of the hypotha... |
ORPHA:3157 |
| Angelman Syndrome Due To A Point Mutation |
|
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... |
ORPHA:411511 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity |
OMIM:618124 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Hyperactivity, Aggressive behavior, Abdominal obesity, Hypogonadism, Delayed puberty |
OMIM:300354 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Pica, Obesity, Joint hypermobility, Aggressive behavior |
OMIM:620191 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Hemochromatosis, Neonatal |
|
Increased circulating ferritin concentration, Increased serum iron, Abnormality of iron homeostasis |
OMIM:231100 |
| Bardet-Biedl Syndrome 3 |
|
Obesity |
OMIM:600151 |
| Laurence-Moon Syndrome |
|
Obesity |
OMIM:245800 |
| Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
| Monosomy 13Q34 |
|
Insulin resistance, Obesity |
ORPHA:96168 |
| New-Onset Refractory Status Epilepticus |
|
Abnormal thalamic MRI signal intensity |
ORPHA:363558 |
| Tatton-Brown-Rahman Syndrome |
|
Aggressive behavior, Obesity, Proportionate tall stature, Umbilical hernia, Neuroendocrine neopla... |
ORPHA:404443 |
| Congenital Disorder Of Glycosylation, Type Ib |
|
Failure to thrive, Hyperinsulinemic hypoglycemia |
OMIM:602579 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Puberty and gonadal disorders, Obesity |
ORPHA:464282 |
| Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Nephrogenic diabetes insipidus, Insulin resistance, Obesity, Truncal obesity, ... |
OMIM:209900 |
| Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Aggressive behavior, Disproportionate tall stature, Abdominal obesity, Attention de... |
OMIM:301039 |
| Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Fasting hyperinsulinemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Failure to thrive... |
ORPHA:71212 |
| Pseudohypoparathyroidism Type 1A |
|
Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased response to growth horm... |
ORPHA:79443 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obes... |
ORPHA:98794 |
| Secondary Short Bowel Syndrome |
|
Weight loss, Central hypothyroidism, Primary hypothyroidism, Failure to thrive, Polyphagia |
ORPHA:95427 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Failure to thrive, Abnormal thalamic MRI signal intensity |
ORPHA:254930 |
| Atkin-Flaitz Syndrome |
|
Obesity |
ORPHA:1193 |
| Bile Acid Synthesis Defect, Congenital, 5 |
|
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... |
OMIM:616278 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Neoplasm of the pancreas, Hypergonadotropic hypogonadism, Small for gestational age, Insulin-resi... |
ORPHA:2959 |
| Rhombencephalosynapsis |
|
Fusion of the left and right thalami, Hydrocephalus, Ventriculomegaly |
ORPHA:59315 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... |
ORPHA:91350 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Lipodystrophy, Joint stiffness, Achilles tendon contracture, Elbow flexion contracture, Obesity, ... |
ORPHA:98855 |
| Carpenter Syndrome |
|
Umbilical hernia, Obesity, Craniosynostosis |
ORPHA:65759 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Abnormal temper tantrums, Skin-p... |
ORPHA:163681 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Obesity |
OMIM:615633 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:96182 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Failure to thrive, Abnormality of the pineal gland, Obesity |
ORPHA:369950 |
| Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Hyperinsulinemia |
ORPHA:66518 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Hyperinsulinemia, Central hypothyroidism... |
ORPHA:508 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
| X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
| Gitelman Syndrome |
|
Salt craving, Maternal diabetes, Insulin resistance, Gout, Glucose intolerance, Diabetic ketoacid... |
ORPHA:358 |
| Wagr Syndrome |
|
Obesity |
ORPHA:893 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Cryptorchidism, Abnormal thalamus morphology |
ORPHA:404440 |
| 19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Craniosynostosis, Precocious puberty, Obesity, Self-injurious behavior, Arthrogryp... |
ORPHA:254346 |
| Trichohepatoenteric Syndrome 1 |
|
Increased mean platelet volume, Splenomegaly, Increased serum iron, Hypoalbuminemia, Abnormality ... |
OMIM:222470 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant... |
ORPHA:91351 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Flexion contracture, Limitation of joint mobility, Osteolysis, Osteolytic def... |
ORPHA:90153 |
| Congenital Myopathy 9A |
|
Obesity |
OMIM:618822 |
| Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Diabetes mellitus, Obesity |
ORPHA:69663 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Joint laxity, Increased body mass index, Small for gestational age, Truncal obesity |
OMIM:300957 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Inguinal hernia, Hyperactivity, Camptodactyly of finger, Cachexia, Aggressive behavior, Obesity, ... |
ORPHA:85293 |
| Retinitis Pigmentosa 51 |
|
Obesity |
OMIM:613464 |
| Bloom Syndrome |
|
Diabetes mellitus, Small for gestational age, Adipose tissue loss, Insulin resistance, Abdominal ... |
ORPHA:125 |
| Smith-Magenis Syndrome |
|
Failure to thrive in infancy, Joint stiffness, Precocious puberty, Abnormal repetitive mannerisms... |
ORPHA:819 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Lipodystrophy, Joint stiffness, Achilles tendon contracture, Elbow flexion contracture, Obesity, ... |
ORPHA:98863 |
| Cornelia De Lange Syndrome 5 |
|
Hypogonadism, Truncal obesity, Limited elbow extension |
OMIM:300882 |
| Emery-Dreifuss Muscular Dystrophy |
|
Lipodystrophy, Joint stiffness, Achilles tendon contracture, Elbow flexion contracture, Obesity, ... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Lipodystrophy, Joint stiffness, Achilles tendon contracture, Elbow flexion contracture, Obesity, ... |
ORPHA:98853 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal thalamic MRI signal intensity |
ORPHA:485421 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Bilateral cryptorchidism, Lateral ventricle dilatation, Dilated third ventricle, Large for gestat... |
ORPHA:544488 |
| White-Sutton Syndrome |
|
Joint laxity, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior, Obesity, Hypog... |
OMIM:616364 |
| Congenital Disorder Of Glycosylation, Type Iit |
|
Pineal cyst |
OMIM:618885 |
| Juvenile Neuronal Ceroid Lipofuscinosis |
|
Focal T2 hyperintense thalamic lesion |
ORPHA:79264 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Pseudohypoparathyroidism, Obesity |
ORPHA:464288 |
| Cach Syndrome |
|
T2 hypointense thalamus, Lateral ventricle dilatation |
ORPHA:135 |
| Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Failure to thrive, Dilated third ventricle, Ventriculomegaly |
OMIM:615574 |
| Xp22.13P22.2 Duplication Syndrome |
|
Umbilical hernia, Attention deficit hyperactivity disorder, Truncal obesity, Congenital diaphragm... |
ORPHA:284180 |
| X-Linked Intellectual Disability, Stevenson Type |
|
Obesity, Tall stature |
ORPHA:85325 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Precocious puberty, Obesity, Type I diabetes mellitus, Dentinogenesis imperfecta |
OMIM:619269 |
| Aceruloplasminemia |
|
Decreased serum iron, Aceruloplasminemia, Increased circulating ferritin concentration, Anemia |
OMIM:604290 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Hyperactivity, Obesity, Dysphagia, Decreased body weight |
ORPHA:589821 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
| Down Syndrome |
|
Joint laxity, Obesity, Type II diabetes mellitus, Umbilical hernia, Hypothyroidism |
ORPHA:870 |
| Rett Syndrome |
|
Agitation, Increased serum leptin, Failure to thrive, Abnormal repetitive mannerisms, Stereotypic... |
ORPHA:778 |
| Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dandy-Walker malformation, Failure to thrive, Supernumerary nipple, Colpocephaly, Lateral ventric... |
ORPHA:397715 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2570 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Overweight, Dilated third ventricle, Hydrocephalus, Lateral ventricle dilatation, Failure to thrive |
OMIM:619575 |
| Radio-Tartaglia Syndrome |
|
Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Attention deficit hyperactivity di... |
OMIM:619312 |
| Chronic Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529808 |
| Acute Bilirubin Encephalopathy |
|
Abnormal thalamic MRI signal intensity |
ORPHA:529799 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Hydrocephalus, Decreased thalamic volume, Ventriculomegaly |
ORPHA:370959 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Craniosynostosis, Congenital diaphragmatic hernia, Obesity, Attention deficit hyperactivity disor... |
ORPHA:261197 |
| 8Q24.3 Microdeletion Syndrome |
|
Ectopic posterior pituitary, Small for gestational age |
ORPHA:508488 |
| Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
| 2Q37 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Obesity, Joint hyperflexibility, Compulsive behaviors, Attention... |
ORPHA:1001 |
| Momo Syndrome |
|
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Abnormal bone o... |
ORPHA:2563 |
| 3P25.3 Microdeletion Syndrome |
|
Abnormal thalamus morphology |
ORPHA:435638 |
| Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Achilles tendon contracture, Obesity |
OMIM:615418 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
| Megalencephaly |
|
Truncal obesity |
ORPHA:2477 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Obesity, Attention deficit hyperactivity disorder |
ORPHA:261222 |
| Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
| Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
OMIM:616737 |
| Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Failure to thrive, Obesity |
OMIM:610543 |
| Neuroferritinopathy |
|
T2 hypointense thalamus, Abnormal thalamic MRI signal intensity |
ORPHA:157846 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Obesity |
ORPHA:2180 |
| Pde4D Haploinsufficiency Syndrome |
|
Joint laxity, Elevated circulating parathyroid hormone level, Abnormal dental enamel morphology, ... |
ORPHA:439822 |
| Adiposis Dolorosa |
|
Arthritis, Hypothyroidism, Obesity |
ORPHA:36397 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypoglycemia |
ORPHA:230 |
| Dysbetalipoproteinemia |
|
Diabetes mellitus, Hypothyroidism, Obesity, Gout |
ORPHA:412 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Abnormal thalamic MRI signal intensity |
ORPHA:70595 |
| 7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Collectionism, Hyperactivity, Craniosynostosis, Congenital diaphragmatic hernia,... |
ORPHA:96121 |
| Bardet-Biedl Syndrome 17 |
|
Polydipsia, Hypogonadism, Obesity |
OMIM:615994 |
| Congenital Disorder Of Deglycosylation 2 |
|
Ventriculomegaly, Hypothalamic hamartoma |
OMIM:619775 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
| Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
| Desbuquois Dysplasia 1 |
|
Joint laxity, Osteoarthritis, Osteoporosis, Advanced ossification of carpal bones, Advanced tarsa... |
OMIM:251450 |
| Joubert Syndrome 37 |
|
Obesity, Joint hypermobility |
OMIM:619185 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Abnormality of the diencephalon |
ORPHA:2165 |
| Hydranencephaly |
|
Thalamic edema, Dysgenesis of the thalamus, Ventriculomegaly, Atrophic pituitary gland |
ORPHA:2177 |
| Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypoglycemia, Large for gestational age, Rickets, Glycosuria |
OMIM:616026 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin concentration, ... |
ORPHA:91355 |
| Adnp Syndrome |
|
Joint laxity, Inguinal hernia, Oral-pharyngeal dysphagia, Aggressive behavior, Truncal obesity, C... |
ORPHA:404448 |
| Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Abnormality of iron homeo... |
ORPHA:84064 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Camptodactyly of toe, Joint hyperflexibility, Hypogonadism, Truncal obesity |
ORPHA:127 |
| Solitary Fibrous Tumor |
|
Hypoglycemia, Weight loss, Recurrent hypoglycemia, Hypophosphatemic rickets, Hypoinsulinemia |
ORPHA:2126 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Overweight, Obesity, Stereotypical hand wringing, Dysphagia, Agitation, Decreased body weight, En... |
OMIM:619229 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Overgrowth, Obesity, Aggressive behavior |
OMIM:620250 |
| Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Obesity |
ORPHA:86816 |
| Müllerian Aplasia And Hyperandrogenism |
|
Obesity, Increased serum testosterone level |
ORPHA:247768 |
| X-Linked Intellectual Disability, Hedera Type |
|
Obesity |
ORPHA:93952 |
| Macrocephaly/Autism Syndrome |
|
Joint laxity, Overgrowth, Obesity, Large for gestational age |
OMIM:605309 |
| Marbach-Schaaf Neurodevelopmental Syndrome |
|
Recurrent hand flapping, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:619680 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Polydipsia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, Ag... |
ORPHA:293987 |
| Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Streak ovary, Obesity |
OMIM:194072 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... |
OMIM:616959 |
| Carpenter Syndrome 1 |
|
Omphalocele, Sagittal craniosynostosis, Precocious puberty, Obesity, Lambdoidal craniosynostosis,... |
OMIM:201000 |
| Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, ... |
ORPHA:96253 |
| Weaver Syndrome |
|
Inguinal hernia, Polyphagia, Overgrowth, Camptodactyly, Limited knee extension, Umbilical hernia,... |
OMIM:277590 |
| 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, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
| Beta-Thalassemia Intermedia |
|
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... |
ORPHA:231222 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
| Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
| Woodhouse-Sakati Syndrome |
|
Osteopenia, Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistan... |
ORPHA:3464 |
| Ring Chromosome Y Syndrome |
|
Male hypogonadism, Streak ovary, Obesity |
ORPHA:261529 |
| Gracile Syndrome |
|
Decreased transferrin saturation, Increased circulating ferritin concentration, Elevated hepatic ... |
ORPHA:53693 |
| Hutchinson-Gilford Progeria Syndrome |
|
Limitation of movement at ankles, Female hypogonadism, Decreased serum leptin, Joint stiffness, L... |
ORPHA:740 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Lateral ventricle dilatation, Normal pressure hydrocephalus, Abnormal thalamus morphology |
ORPHA:300570 |
| White-Sutton Syndrome |
|
Ventral hernia, Joint laxity, Inguinal hernia, Hyperactivity, Congenital diaphragmatic hernia, Ag... |
ORPHA:468678 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Restlessness, Aggressive behavior, Generalized joint laxity, Increased susceptibility... |
ORPHA:251028 |
| Kleefstra Syndrome 1 |
|
Aggressive behavior, Obesity, Compulsive behaviors, Tracheobronchomalacia, Abnormal repetitive ma... |
OMIM:610253 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Delayed ossification of carpal bones, Obesity |
OMIM:618395 |
| Prolactinoma |
|
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... |
ORPHA:2965 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Osteosclerosis of ribs, Obesity |
ORPHA:174 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Fusion of the left and right thalami, Dilated fourth ventricle |
OMIM:619306 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cholelithiasis, Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:464738 |
| Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Dilated third ventricle |
ORPHA:314404 |
| Kleefstra Syndrome |
|
Aggressive behavior, Limitation of joint mobility, Obesity, Self-injurious behavior, Hernia, Trac... |
ORPHA:261494 |
| Peripartum Cardiomyopathy |
|
Diabetes mellitus, Abnormality of thyroid physiology, Obesity |
ORPHA:563 |
| Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Hydrocephalus, Abnormality of the diencephalon |
ORPHA:2720 |
| 17Q24.2 Microdeletion Syndrome |
|
Truncal obesity, Failure to thrive in infancy, Decreased response to growth hormone stimulation t... |
ORPHA:529962 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Overweight, Small for gestational age, Obesity, Hypoketotic hypoglycemia |
ORPHA:26793 |
| Thalidomide Embryopathy |
|
Radial club hand, Insulin resistance |
ORPHA:3312 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... |
ORPHA:99889 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Recurrent hand fla... |
OMIM:156200 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... |
ORPHA:99413 |
| Turner Syndrome |
|
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... |
ORPHA:881 |
| Mosaic Monosomy X |
|
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... |
ORPHA:99228 |
| Monosomy X |
|
Osteopenia, Failure to thrive in infancy, High urinary gonadotropin level, Increased circulating ... |
ORPHA:99226 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hypoglycemia, Aggressive behavior, Precocious puberty, Abnormal repetitive mannerisms, Obesity, U... |
OMIM:301066 |
| Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Hypogonadism, Obesity |
ORPHA:110 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
| Helsmoortel-Van Der Aa Syndrome |
|
Joint laxity, Hyperactivity, Decreased response to growth hormone stimulation test, Abnormal repe... |
OMIM:615873 |
| Wilson Disease |
|
Aggressive behavior, Hypersexuality, Increased body weight, Weight loss, Arthritis, Pathologic fr... |
ORPHA:905 |
| 8P23.1 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Obesity, Congenital diaphragmatic hernia, Weight loss |
ORPHA:251071 |
| Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... |
OMIM:620185 |
| Ataxia-Oculomotor Apraxia 4 |
|
Obesity |
OMIM:616267 |
| Distal Deletion 12Q |
|
Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the yo... |
ORPHA:96149 |
| Achondroplasia |
|
Knee joint hypermobility, Limited elbow extension, Obesity, Hip joint hypermobility |
ORPHA:15 |
| Angelman Syndrome |
|
Hyperactivity, Paroxysmal bursts of laughter, Obesity |
OMIM:105830 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Osteopenia, Diabetes mellitus, Obesity, Hypogonadism, Pathologic fracture |
OMIM:614231 |
| Cohen Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Delayed puberty... |
OMIM:216550 |
| Aceruloplasminemia |
|
Diabetes mellitus, Abnormal pancreas morphology, Abnormal thalamic MRI signal intensity |
ORPHA:48818 |
| Rabin-Pappas Syndrome |
|
Tracheomalacia, Overgrowth, Obesity, Failure to thrive in infancy |
OMIM:620155 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Precocious puberty, Truncal obesity, Type II diabetes mellitus, Enamel hypo... |
OMIM:210720 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Elbow flexion contracture, Obesity, Finger joint hypermobility |
OMIM:618493 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Failure to thrive, Femoral hernia, Obesity |
ORPHA:96147 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Obesity, Compulsive behaviors |
OMIM:618443 |
| Webb-Dattani Syndrome |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... |
OMIM:615926 |
| Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... |
OMIM:613280 |
| Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
| 3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Obesity, Craniosynostosis |
ORPHA:251038 |
| Gaisböck Syndrome |
|
Diabetes mellitus, Overweight, Obesity, Gout, Increased circulating renin level |
ORPHA:90041 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:83597 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Limb joint contracture, Small for gestational age, Decreased resting energy expenditure, Achilles... |
ORPHA:404454 |
| Momo Syndrome |
|
Overgrowth, Obesity |
OMIM:157980 |
| Japanese Encephalitis |
|
Inappropriate antidiuretic hormone secretion, Focal T2 hyperintense thalamic lesion, Abnormal tha... |
ORPHA:79139 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
| Aicardi Syndrome |
|
Precocious puberty, Lateral ventricle dilatation, Dilated third ventricle, Dandy-Walker malformation |
OMIM:304050 |
| Neutral Lipid Storage Myopathy |
|
Diabetes mellitus, Obesity, Pineal cyst |
ORPHA:98908 |
| Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
| Orofaciodigital Syndrome Type 6 |
|
Bilateral cryptorchidism, Failure to thrive, Hypothalamic hamartoma |
ORPHA:2754 |
| Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... |
ORPHA:79102 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
| Hereditary Cryohydrocytosis With Reduced Stomatin |
|
Communicating hydrocephalus, Decreased thalamic volume |
ORPHA:168577 |
| Generalized Pustular Psoriasis |
|
Overweight, Arthritis, Obesity |
ORPHA:247353 |
| Joubert Syndrome 8 |
|
Obesity |
OMIM:612291 |
| Tay-Sachs Disease |
|
Precocious puberty, Abnormal thalamic MRI signal intensity, Ventriculomegaly |
ORPHA:845 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity |
ORPHA:3224 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperacti... |
OMIM:616078 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... |
ORPHA:177907 |
| Ulnar-Mammary Syndrome |
|
Obesity, Hernia of the abdominal wall, Camptodactyly of finger, Delayed puberty |
ORPHA:3138 |
| Dominant Beta-Thalassemia |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... |
ORPHA:231226 |
| Cohen Syndrome |
|
Joint hyperflexibility, Failure to thrive in infancy, Obesity, Delayed puberty |
ORPHA:193 |
| Tenorio Syndrome |
|
Osteopenia, Hypoglycemia, Hypoinsulinemia, Joint laxity |
OMIM:616260 |
| Oculoectodermal Syndrome |
|
Supernumerary nipple, Pineal cyst |
OMIM:600268 |
| Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Obesity |
OMIM:615989 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Aggressive behavior, Obesity, Truncal obesity, Self-injurious behavior, Attention deficit hyperac... |
ORPHA:466950 |
| 1P36 Deletion Syndrome |
|
Camptodactyly of finger, Joint stiffness, Abnormal repetitive mannerisms, Polyphagia, Obesity, Se... |
ORPHA:1606 |
| Beta-Thalassemia Major |
|
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... |
ORPHA:231214 |
| Microphthalmia, Syndromic 3 |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypothalamic hamartoma |
OMIM:206900 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Slender build, Decreased response to growth hormone stimulation test, Testicular neoplasm, Small ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Slender build, Decreased response to growth hormone stimulation test, Testicular neoplasm, Small ... |
ORPHA:363958 |
| Orofaciodigital Syndrome Vi |
|
Failure to thrive, Hypothalamic hamartoma |
OMIM:277170 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Hypoparathyroidism, Craniosynostosis, Precocious puberty, Obesity, Joint hypermobility |
ORPHA:369837 |
| Retinitis Pigmentosa 74 |
|
Obesity |
OMIM:616562 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Joint hyperflexibility, Truncal obesity, Attention deficit hyperactivity diso... |
ORPHA:2637 |
| Leigh Syndrome |
|
Failure to thrive, Abnormal thalamic MRI signal intensity |
ORPHA:506 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Cryptorchidism, Agenesis of pineal gland, Hypogonadism |
ORPHA:536471 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Failure to thrive, Ventriculomegaly, Pineal cyst |
ORPHA:513456 |
| Primrose Syndrome |
|
Hip contracture, Restlessness, Diabetes mellitus, Hypergonadotropic hypogonadism, Joint hypermobi... |
OMIM:259050 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Joint laxity, Restrictive behavior, Hyperactivity, Osteomyelitis, Impulsivity, Aggressive behavio... |
OMIM:619475 |
| Xylt1-Cdg |
|
Joint laxity, Truncal obesity |
ORPHA:370930 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Thalamic hemorrhage |
ORPHA:464321 |
| Orofaciodigital Syndrome Type 14 |
|
Dilated fourth ventricle, Bilateral cryptorchidism, Dilated third ventricle, Dandy-Walker malform... |
ORPHA:434179 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Cryptorchidism, Slender build, Delayed puberty, Pineal cyst |
OMIM:300967 |
| Chops Syndrome |
|
Tracheomalacia, Cervical C2/C3 vertebral fusion, Obesity |
OMIM:616368 |
| Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperactivity disorder, ... |
ORPHA:466943 |
| Desbuquois Dysplasia 2 |
|
Joint laxity, Truncal obesity, Advanced ossification of carpal bones |
OMIM:615777 |
| White-Kernohan Syndrome |
|
Joint laxity, Hypothyroidism, Obesity, Attention deficit hyperactivity disorder |
OMIM:619426 |
| Pmm2-Cdg |
|
Osteopenia, Joint laxity, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypogonadi... |
ORPHA:79318 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Obesity |
OMIM:614947 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Aggressive behavior, Polyphagia, Obesity, Dysphagia, Congenital hypothyr... |
OMIM:607872 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Joint laxity, Obesity |
OMIM:250420 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Abnormal repetitive mannerisms, Obesity |
OMIM:618653 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Inguinal hernia, Adrenocortical cytomegaly, Hypoglycemia, Tall stature, Congenital d... |
ORPHA:116 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity |
ORPHA:319675 |
| Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Obesity |
ORPHA:209902 |
| Kabuki Syndrome |
|
Congenital diaphragmatic hernia, Precocious puberty, Obesity, Joint hyperflexibility, Failure to ... |
ORPHA:2322 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Joint laxity, Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior... |
OMIM:620330 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
| Williams-Beuren Syndrome |
|
Osteopenia, Joint laxity, Inguinal hernia, Diabetes mellitus, Failure to thrive in infancy, Flexi... |
OMIM:194050 |
| Diamond-Blackfan Anemia 21 |
|
Obesity |
OMIM:620072 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin concentration, Abno... |
ORPHA:465508 |
| Bickerstaff Brainstem Encephalitis |
|
Abnormal thalamic MRI signal intensity |
ORPHA:79138 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Ob... |
ORPHA:353281 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Obesity |
ORPHA:98907 |
| 22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Inguinal hernia, Hyperthyroidism, Abnormal dental enamel morphology, Obesity,... |
ORPHA:567 |
| Holoprosencephaly 7 |
|
Fusion of the left and right thalami, Hydrocephalus, Panhypopituitarism |
OMIM:610828 |
| Bardet-Biedl Syndrome 20 |
|
Male hypogonadism, Obesity |
OMIM:619471 |
| Alström Syndrome |
|
Dorsocervical fat pad, Decreased response to growth hormone stimulation test, Precocious puberty ... |
ORPHA:64 |
| Orofaciodigital Syndrome I |
|
Pancreatic cysts, Ovarian cyst, Hydrocephalus, Hypothalamic hamartoma |
OMIM:311200 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Obesity, Tracheomalacia, Cervical C2/C3 ve... |
ORPHA:444077 |
| Lysinuric Protein Intolerance |
|
Truncal obesity, Failure to thrive, Osteoporosis, Recurrent fractures |
OMIM:222700 |
| Myhre Syndrome |
|
Vertebral fusion, Small for gestational age, Joint stiffness, Limitation of joint mobility, Obesi... |
OMIM:139210 |
| Monosomy 22Q13.3 |
|
Hyperactivity, Hair-pulling, Obesity, Bruxism, Umbilical hernia |
ORPHA:48652 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Splenomegaly, Increased total iron binding capacit... |
ORPHA:309854 |
| Witteveen-Kolk Syndrome |
|
Joint laxity, Inguinal hernia, Hyperactivity, Small for gestational age, Decreased response to gr... |
OMIM:613406 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Truncal obesity, Flexion contracture, Limb joint contracture |
OMIM:301072 |
| Williams Syndrome |
|
Osteopenia, Joint laxity, Inguinal hernia, Increased bone mineral density, Hypogonadotropic hypog... |
ORPHA:904 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Increased circulating gonadotropin level, Obesity, Delayed puberty, Decreased serum... |
ORPHA:1772 |
| Pallister-Hall Syndrome |
|
Decreased testicular size, Adrenal hypoplasia, Large for gestational age, Precocious puberty, Cry... |
ORPHA:672 |
| Carney Complex |
|
Tall stature, Euthyroid multinodular goiter, Dorsocervical fat pad, Follicular thyroid carcinoma,... |
ORPHA:1359 |
| Liver Disease, Severe Congenital |
|
Joint laxity, Inguinal hernia, Abnormal circulating thyroid hormone concentration, Hyperinsulinem... |
OMIM:619991 |
| Digeorge Syndrome |
|
Inguinal hernia, Femoral hernia, Parathyroid agenesis, Decreased circulating parathyroid hormone ... |
OMIM:188400 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Joint laxity, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Ob... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Joint laxity, Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Ob... |
ORPHA:353277 |
| 6Q Terminal Deletion Syndrome |
|
Joint laxity, Failure to thrive, Obesity |
ORPHA:75857 |
| Rubinstein-Taybi Syndrome 1 |
|
Joint laxity, Hyperactivity, Small for gestational age, Premature thelarche, Impulsivity, Flexion... |
OMIM:180849 |
| Paroxysmal Nocturnal Hemoglobinuria |
|
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... |
ORPHA:447 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Failure to thrive, Pseudohypoparathyroidism, Obesity |
OMIM:617157 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Abdominal obesity, Flexion contracture, Hypoplasia of the ovary |
OMIM:619321 |
| Carpenter Syndrome 2 |
|
Craniosynostosis, Obesity, Knee flexion contracture, Camptodactyly, Umbilical hernia |
OMIM:614976 |
| Chronic Thromboembolic Pulmonary Hypertension |
|
Osteomyelitis, Obesity |
ORPHA:70591 |
| Norrie Disease |
|
Failure to thrive, Diabetes mellitus, Cachexia, Cryptorchidism, Delayed puberty, Abnormality of t... |
ORPHA:649 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Joint laxity, Truncal obesity, Self-injurious behavior, Camptodactyly, Failure to thrive, Abnorma... |
OMIM:612474 |
| Cornelia De Lange Syndrome |
|
Congenital diaphragmatic hernia, Joint stiffness, Truncal obesity, Radioulnar synostosis, Attenti... |
ORPHA:199 |
| Tako-Tsubo Cardiomyopathy |
|
Obesity |
ORPHA:66529 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Hyperactivity, Paroxysmal bursts of laughter, Hypogonadism, Obesity |
OMIM:309580 |
| Leukocyte Adhesion Deficiency |
|
Coronal craniosynostosis, Osteomyelitis, Hyperinsulinemic hypoglycemia |
ORPHA:2968 |
| Pallister-Killian Syndrome |
|
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Obesity, Camp... |
OMIM:601803 |
