Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia |
ORPHA:329249 |
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 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maternal diabetes, Reactive hypogl... |
ORPHA:324575 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Increased C-peptide level, Hyperinsulinemia, Hypoglycemi... |
ORPHA:276575 |
Short Stature Due To Primary Acid-Labile Subunit Deficiency |
|
Insulin resistance, Truncal obesity, Decreased serum insulin-like growth factor 1, Delayed puberty |
ORPHA:140941 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Increased C-peptide level, Hypogl... |
ORPHA:276556 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Increased C-peptide level, Hyperinsul... |
ORPHA:276580 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Polyphagia, Obesity, Tall stature |
OMIM:618406 |
Obesity Due To Sim1 Deficiency |
|
Hyperinsulinemia, Obesity, Glucose intolerance, Attention deficit hyperactivity disorder, Increas... |
ORPHA:369873 |
Obesity And Hypopigmentation |
|
Overgrowth, Hyperinsulinemia, Polyphagia, Obesity |
OMIM:620195 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Leptin Deficiency Or Dysfunction |
|
Decreased serum leptin, Obesity, Hypogonadism, Micropenis, Polyphagia |
OMIM:614962 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin resistance, Obesity, Incre... |
OMIM:615703 |
Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Multiple Symmetric Lipomatosis |
|
Hepatomegaly, Insulin resistance, Abnormal adipose tissue morphology, Multiple lipomas |
ORPHA:2398 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, H... |
OMIM:232700 |
Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... |
OMIM:612526 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Large for gestational age, Hypoglycemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... |
OMIM:601820 |
Lipodystrophy, Familial Partial, Type 1 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
OMIM:608600 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Insulin res... |
OMIM:615980 |
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 |
Type 2 Diabetes Mellitus |
|
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus |
OMIM:125853 |
Cortisone Reductase Deficiency 2 |
|
Insulin resistance, Obesity, Premature pubarche |
OMIM:614662 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Polyphagia, Obesity, Large for gestational age |
OMIM:617119 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity, Abnormality of the kidney |
OMIM:615988 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:604367 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:619175 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Abnormal circulating C-peptide concentration, Recurrent hypoglycemia, T... |
ORPHA:79299 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Elevated circulating insulin:C-peptide ratio, Fasting hyperinsulinemia, Hypoglycemic seizures, Hy... |
OMIM:609968 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Type 1 Diabetes Mellitus |
|
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Poly... |
OMIM:222100 |
Lipase Deficiency, Combined |
|
Hypertriglyceridemia, Lipodystrophy, Type II diabetes mellitus |
OMIM:246650 |
Obesity, Hyperphagia, And Developmental Delay |
|
Abnormal repetitive mannerisms, Polyphagia, Obesity |
OMIM:613886 |
Lipodystrophy, Familial Partial, Type 4 |
|
Hypertriglyceridemia, Lipodystrophy, Lipoatrophy, Insulin-resistant diabetes mellitus, Insulin re... |
OMIM:613877 |
Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Hypogonadism, Obesity, Renal cyst |
OMIM:615987 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Agitation, Pancreatic islet-cell ... |
ORPHA:276608 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia |
ORPHA:79084 |
Temple Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Precocious pube... |
ORPHA:254516 |
Prader-Willi syndrome (Type 1) |
|
Truncal obesity, Hypogonadism |
DECIPHER:14 |
Prader-Willi Syndrome (Type 2) |
|
Truncal obesity, Hypogonadism |
DECIPHER:53 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Impaired glucose tolerance, Increased LDL cholesterol concentration, Glucos... |
OMIM:610947 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Hypoglycemia, Hyperinsulinemia, Generalized aminoaciduria, Renal tubular dysfunction, Failure to ... |
OMIM:606528 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Hypoglycemic seizures, Asymptomatic hyperammonemia, Hy... |
OMIM:606762 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
Mody |
|
Elevated hemoglobin A1c, Abnormality of the kidney, Large for gestational age, Overweight, Transi... |
ORPHA:552 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Abnormal circulating acylcarnitine concentration, Dicarboxylic aciduria, Increased circulating fr... |
ORPHA:71212 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperammonemia, Increased blood urea nitrogen, Hyperisoleucinemia, Hyperleucinemi... |
OMIM:620085 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hypertriglyceridemia, Lipodystrop... |
ORPHA:528 |
14Q11.2 Microduplication Syndrome |
|
Aggressive behavior, Polyphagia, Obesity, Attention deficit hyperactivity disorder, Hypothyroidism |
ORPHA:261229 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Lipod... |
OMIM:608594 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Reduced i... |
ORPHA:363400 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
|
Obesity, Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Polyphagia, Obesity, Hypogonadotropic hypogonadism |
ORPHA:177910 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Abnormality of the kidney, Maternal diabetes, Maturity-onset diabetes ... |
ORPHA:99886 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated ... |
OMIM:269700 |
Bardet-Biedl Syndrome 9 |
|
Renal insufficiency, Obesity, Truncal obesity, Hyperglycemia, Polydipsia, Polyphagia |
OMIM:615986 |
Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Obesity |
OMIM:615991 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Hyperactivity, Increased circulating free T4 concent... |
OMIM:275000 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Reactive hypoglycemia, Fasting hyperinsulinemi... |
ORPHA:35878 |
Bardet-Biedl Syndrome 18 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Obesity |
OMIM:615995 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Hepatomegaly, Proteinuria, Large for gestational age, Abnormal circulating fatty-acid concentrati... |
ORPHA:263455 |
Syndromic X-Linked Intellectual Disability 7 |
|
Hypoplasia of penis, Hypogonadism, Obesity, Micropenis |
ORPHA:85274 |
Retinitis Pigmentosa |
|
Hypoplasia of penis, Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II ... |
ORPHA:791 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Ketonuria, Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for ge... |
ORPHA:79644 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Enuresis, Co... |
OMIM:613670 |
Neutral Lipid Storage Disease With Myopathy |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Elevated circulating creatine kinase conce... |
OMIM:610717 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly, Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency |
|
Hypertriglyceridemia, Hypoglycemia |
ORPHA:366 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Hypertrophic cardiomyopathy, Hyperactivity, Obesity, Aggressive behavior |
OMIM:620270 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypoproteinemia, Hepatomegaly, Ventricular septal defect, Small for gestational age, Elevated cir... |
ORPHA:26793 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Precocious... |
OMIM:616222 |
Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Renal agenesis, Stage 5 chronic kidney disease, Obesity, Renal cyst, Hypogon... |
OMIM:615993 |
Bardet-Biedl Syndrome 5 |
|
Micropenis, Hypogonadism, Obesity |
OMIM:615983 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Impulsivity, Flexion contracture, Obesity, Hypogonadism, Skin-picki... |
OMIM:615547 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Lipoatrophy, Proteinuria, Insulin resistance, Microscopic hematuria |
ORPHA:79087 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Abnormal dental enamel morp... |
ORPHA:251004 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hyperactivity, Polyphagia, Inappropriate laughter, Obesity |
ORPHA:411515 |
Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
Hypotonia-Cystinuria Syndrome |
|
Cystine crystalluria, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... |
OMIM:606407 |
Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia, Nephrolithiasis, Cystinuria |
ORPHA:163690 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Decreased HDL cholesterol concentrati... |
OMIM:151660 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Hypertriglyceridemia, Transient Infantile |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Hypertriglyceridemia |
OMIM:614480 |
Smith-Magenis Syndrome |
|
Hyperactivity, Hypertriglyceridemia, Abnormality of the thyroid gland, Abnormal renal morphology,... |
OMIM:182290 |
Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Weight loss, Abnormal circulating cholesterol con... |
ORPHA:399 |
Hypertriglyceridemia 1 |
|
Glucose intolerance, Hypopituitarism, Hypertriglyceridemia, Increased VLDL cholesterol concentration |
OMIM:145750 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Inguinal hernia, Large for gestational age, Overgrowth, Umbilical hernia, Nephroblastoma, Enlarge... |
OMIM:618272 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hypoplasia of penis, Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
Narcolepsy Type 1 |
|
Obesity |
ORPHA:2073 |
6Q16 Microdeletion Syndrome |
|
Polyphagia, Obesity, Abnormal temper tantrums |
ORPHA:171829 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Diabetes Mellitus, Ketosis-Prone |
|
Beta-cell dysfunction, Insulin resistance, Diabetes mellitus |
OMIM:612227 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... |
ORPHA:79237 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Atherosclerosis Susceptibility |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:108725 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Hypoplasia of penis, Femoral hernia, Hyperinsulinemia, Nephroblast... |
ORPHA:2849 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Hypertriglyceridemia, Aggressive behavior, Overfriendliness |
OMIM:618010 |
Chromosome Xq26.3 Duplication Syndrome |
|
Ventricular hypertrophy, Tall stature, Elevated circulating growth hormone concentration, Pituita... |
OMIM:300942 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hypertriglyceridemia |
ORPHA:436182 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Diabetes mellit... |
OMIM:615381 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Glomerulopathy, Diabetes mellitus, Hy... |
ORPHA:2348 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Familial Multiple Lipomatosis |
|
Lipodystrophy, Increased adipose tissue, Insulin resistance, Hyperlipidemia, Overgrowth, Abnormal... |
ORPHA:199276 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Obesity, Hypogonadism, Atrial s... |
OMIM:615981 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Mehmo Syndrome |
|
Hypoplasia of penis, Diabetes mellitus, Obesity, Agitation, Micropenis |
ORPHA:85282 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... |
OMIM:616033 |
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome |
|
Obesity |
ORPHA:436141 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type |
|
Obesity |
OMIM:309585 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Inguinal hernia, Obesity |
OMIM:300209 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
Pparg-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Hypertriglyceridem... |
ORPHA:79083 |
Mehmo Syndrome |
|
Hypoglycemia, Decreased response to growth hormone stimulation test, Small for gestational age, A... |
OMIM:300148 |
Renal Glucosuria |
|
Polyuria, Enuresis nocturna, Glycosuria, Polydipsia, Polyphagia |
OMIM:233100 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Hypoglycemia, Leucine-Induced |
|
Hypoglycemia, Hyperinsulinemic hypoglycemia |
OMIM:240800 |
Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... |
ORPHA:94086 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
Morm Syndrome |
|
Hyperactivity, Abnormality of the kidney, Aggressive behavior, Truncal obesity, Micropenis |
ORPHA:75858 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Insulin-resistant diabetes mellitus, Insulin res... |
ORPHA:79086 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Obesity, R... |
OMIM:615996 |
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Elbow flexion contractu... |
OMIM:616516 |
Adenocarcinoma Of The Esophagus |
|
Obesity |
ORPHA:99976 |
Bardet-Biedl Syndrome 8 |
|
Hypospadias, Situs inversus totalis, Obesity, Hypogonadism, Renal dysplasia |
OMIM:615985 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Obesity |
OMIM:619058 |
Pick Disease Of Brain |
|
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
11P15.4 Microduplication Syndrome |
|
Obesity, Aggressive behavior |
ORPHA:300305 |
Bardet-Biedl Syndrome 4 |
|
Hypogonadism, Obesity, Renal cyst, Abnormality of the kidney |
OMIM:615982 |
Abdominal Obesity-Metabolic Syndrome 1 |
|
Abdominal obesity |
OMIM:605552 |
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2 |
|
Abdominal obesity |
OMIM:605572 |
Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:136120 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98793 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Hypoglycemia, Small for gestational age, Insulin resistance, Truncal obesity, Hypo... |
ORPHA:73272 |
Acanthosis Nigricans With Muscle Cramps And Acral Enlargement |
|
Insulin resistance |
OMIM:200170 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177904 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Small for gestational age, Elevat... |
OMIM:274300 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:98754 |
Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hyperphosphate... |
OMIM:603233 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Intellectual Developmental Disorder, X-Linked 91 |
|
Obesity |
OMIM:300577 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Premature a... |
ORPHA:177901 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Decreased HDL cholesterol concentrati... |
ORPHA:280365 |
Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
Alstrom Syndrome |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypergonadotropic hy... |
OMIM:203800 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Hypogonadotropic hypogonadism, Precocious puberty, Obesity, Absence of pubert... |
ORPHA:398079 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Insulin resistance, Abnormal circula... |
ORPHA:69076 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Atrial septal defect, Premature pubarche, Impulsivity, Precocious puberty, Flexion contracture, I... |
ORPHA:398069 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentra... |
OMIM:613327 |
Niemann-Pick Disease, Type B |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Increa... |
OMIM:607616 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Impaired glucose tolerance, Hypertriglyceride... |
ORPHA:2088 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Failure to thrive, Dilated cardiomyopathy, Hypoketot... |
OMIM:610768 |
D-Glyceric Aciduria |
|
Hyperglycinemia, Hyperglycinuria, Nonketotic hyperglycinemia, Increased circulating free fatty ac... |
ORPHA:941 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, R... |
ORPHA:412 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Subaortic Stenosis-Short Stature Syndrome |
|
Inguinal hernia, Obesity, Membranous subvalvular aortic stenosis, Type II diabetes mellitus, Subv... |
ORPHA:3191 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Hypoglycemia, Proteinuria, Mesangial hypercell... |
OMIM:617575 |
Pediatric-Onset Graves Disease |
|
Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with dif... |
ORPHA:525731 |
Estrogen Resistance Syndrome |
|
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... |
ORPHA:785 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
Biemond Syndrome Type 2 |
|
Hypogonadotropic hypogonadism, Hypospadias, Obesity, Hypogonadism, Delayed puberty |
ORPHA:141333 |
Rabson-Mendenhall Syndrome |
|
Fasting hyperinsulinemia, Nephrocalcinosis, Fasting hypoglycemia, Atrial septal defect, Hypothyro... |
ORPHA:769 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98855 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Xq27.3Q28 Duplication Syndrome |
|
Truncal obesity, Failure to thrive, Hypogonadism |
ORPHA:261483 |
Kleine-Levin Syndrome |
|
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... |
ORPHA:33543 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Frontotemporal Dementia |
|
Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney |
OMIM:615285 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adip... |
OMIM:248370 |
Laurence-Moon Syndrome |
|
Renal insufficiency, Hypoplasia of penis, Obesity, Type II diabetes mellitus, Displacement of the... |
ORPHA:2377 |
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... |
ORPHA:90301 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Hypertriglyceridemia, Adrenal calcification, Splenomegaly, Hypercholesterolemia |
ORPHA:75234 |
Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Stage 5 chronic kidney disease, Aortic valve stenosi... |
OMIM:615382 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Decreased HDL cholesterol concentration, Renal insufficiency, Hypertriglyceridemia, Proteinuria |
OMIM:245900 |
Trisomy 5P |
|
Hypoplasia of penis, Obesity, Renal hypoplasia/aplasia |
ORPHA:1742 |
Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98853 |
Luscan-Lumish Syndrome |
|
Overgrowth, Polyphagia, Obesity, Aggressive behavior |
OMIM:616831 |
Citrullinemia Type Ii |
|
Restlessness, Hyperactivity, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperam... |
ORPHA:247585 |
Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... |
OMIM:613496 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Truncal obesity, Micropenis, Childhood-onset truncal obesity |
OMIM:610156 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Unilateral renal agenesis, Ectopic kidney, Insulin resistance... |
OMIM:616541 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Hypoplasia of penis, Abnormal repetitive mannerisms, Self-injurious behavior, Poly... |
ORPHA:228402 |
Kleine-Levin Hibernation Syndrome |
|
Polyphagia |
OMIM:148840 |
Man1B1-Cdg |
|
Truncal obesity, Polyphagia |
ORPHA:397941 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Truncal obesity |
OMIM:300471 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Long penis, Hyperinsulinemia, Severe failure to thrive, ... |
OMIM:246200 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Elevated circulating creatine kinase concentration, Achilles... |
ORPHA:98863 |
Nephronophthisis 15 |
|
Obesity, Nephronophthisis |
OMIM:614845 |
Wagro Syndrome |
|
Proteinuria, Aggressive behavior, Obesity, Agitation, Compulsive behaviors, Nephroblastoma, Polyp... |
OMIM:612469 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:189427 |
Secondary Short Bowel Syndrome |
|
Low plasma citrulline, Abnormal blood ion concentration, Weight loss, Central hypothyroidism, Pri... |
ORPHA:95427 |
Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Hypertriglyceridemia, Hepatosplenomegaly |
OMIM:608898 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Knee flex... |
OMIM:608836 |
Hepatic Veno-Occlusive Disease |
|
Hepatomegaly, Renal insufficiency, Increased body weight, Increased total bilirubin |
ORPHA:890 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Renal hypoplasia/aplasia, Precocious puberty,... |
ORPHA:819 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79444 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Hypoplasia of penis, Abnormality of the thyroid gland, Obesity, Hypogonadism, ... |
ORPHA:2234 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development, Micro... |
OMIM:610628 |
Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Abnormal heart morp... |
ORPHA:85445 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:618725 |
Bardet-Biedl Syndrome 7 |
|
Hypogonadism, Obesity |
OMIM:615984 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:603552 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... |
OMIM:176270 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Insulin resistance, Flexion contracture, Elbow flexion contracture, Kn... |
OMIM:214150 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... |
OMIM:614450 |
Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Elevated circulating c... |
OMIM:602088 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Large for gestational age |
ORPHA:2432 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Pseudohypoparathyroidism, Obesity... |
OMIM:612462 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism, Obesity, Mitral v... |
ORPHA:2183 |
Borjeson-Forssman-Lehmann Syndrome |
|
Micropenis, Obesity, Delayed puberty |
OMIM:301900 |
Angelman Syndrome |
|
Hyperactivity, Precocious puberty in females, Aggressive behavior, Tongue thrusting, Obesity, Sel... |
ORPHA:72 |
Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia |
OMIM:618774 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Obesity, Compulsive behaviors |
ORPHA:444002 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Hypospadias, Obesity, Renal cyst |
OMIM:605231 |
Distal 16P11.2 Microdeletion Syndrome |
|
Renal agenesis, Abnormality of the kidney, Proteinuria, Chronic kidney disease, Obesity, Hyperuri... |
ORPHA:261222 |
Short Syndrome |
|
Inguinal hernia, Small for gestational age, Lipodystrophy, Lipoatrophy, Insulin resistance, Insul... |
OMIM:269880 |
Laron Syndrome |
|
Hypoplasia of penis, Hypoglycemia, Abnormality of the endocrine system, Truncal obesity, Delayed ... |
ORPHA:633 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Dorsocervical fat pad, Increased body weight, Increased c... |
OMIM:615830 |
Congenital Analbuminemia |
|
Small for gestational age, Lipodystrophy, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Lipoma, Obesity, Oral-pharyngeal dysphagia |
ORPHA:480907 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hypoalbuminemia, Steatorrhea, Hyperinsulinemic hy... |
OMIM:602579 |
Mpi-Cdg |
|
Hepatomegaly, Hypoalbuminemia, Hyperinsulinemic hypoglycemia, Failure to thrive, Hypothyroidism |
ORPHA:79319 |
Aromatase Deficiency |
|
Eunuchoid habitus, Hypergonadotropic hypogonadism, Enlarged polycystic ovaries, Insulin resistanc... |
ORPHA:91 |
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity, Mitral valve prolapse |
ORPHA:2233 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Insulin resistance, Long pen... |
ORPHA:508 |
Prader-Willi Syndrome |
|
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... |
ORPHA:739 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Hypertriglyceridemia, Foamy urine, Proteinuria, Minimal change glome... |
ORPHA:567548 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Elevated circulating creatine kinase concentrat... |
ORPHA:264580 |
Short Stature, Dauber-Argente Type |
|
Increased insulin like growth factor binding protein acid labile subunit concentration, Fasting h... |
OMIM:619489 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Atrial septal defect, Umbilical hernia, Abnormality of the ureter, Obesity |
ORPHA:1035 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Obesity |
OMIM:616756 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Hepatomegaly, Ventricular septal defect, Impaired glucose tolerance, Splenomegaly, Chronic kidney... |
OMIM:615630 |
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders |
|
Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder |
OMIM:620065 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Craniopharyngioma |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... |
ORPHA:54595 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity |
ORPHA:276630 |
48,Xxyy Syndrome |
|
Inguinal hernia, Hypoplasia of penis, Hypergonadotropic hypogonadism, Abnormal dental enamel morp... |
ORPHA:10 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Ketotic hypoglycemia, Elevated circulating creatine kinase co... |
ORPHA:79240 |
Placental Insufficiency |
|
Insulin resistance, Small for gestational age, Abnormal heart morphology |
ORPHA:439167 |
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 |
Lymphoproliferative Syndrome, X-Linked, 2 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration |
OMIM:300635 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Hepatomegaly, Hypoglycemia, Abnormality of the kidney, Proteinuria, Hyperlipidemia, Delayed puber... |
ORPHA:369 |
Coenzyme Q10 Deficiency, Primary, 2 |
|
Overweight, Bulimia, Obesity |
OMIM:614651 |
Hepatorenocardiac Degenerative Fibrosis |
|
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... |
OMIM:619902 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Achilles tendon contracture, Obesity, Left ve... |
OMIM:615418 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity |
OMIM:604931 |
Chromosome 2Q37 Deletion Syndrome |
|
Hyperactivity, Aggressive behavior, Hypothyroidism, Obesity, Self-injurious behavior, Skin-pickin... |
OMIM:600430 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
Seckel Syndrome 10 |
|
Ventricular hypertrophy, Diabetes mellitus, Impaired glucose tolerance, Elevated hemoglobin A1c, ... |
OMIM:617253 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Precocious puberty, Obesity, Abnormal heart morphology |
ORPHA:254525 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test... |
ORPHA:79443 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... |
ORPHA:293987 |
Chung-Jansen Syndrome |
|
Attention deficit hyperactivity disorder, Obesity, Impulsivity, Aggressive behavior |
OMIM:617991 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Abnormality of the kidney, Decreased serum iron, Overweight, Repetitive compul... |
ORPHA:391372 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Obesity, Elevated circulating parathyroid hormone level, Hyp... |
ORPHA:79445 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Hyperactivity, Diabetes mellitus, Hypospadias, Obesity, Congenital hypothyroidism |
OMIM:614613 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Splenomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Hepatosplenomegaly |
OMIM:613101 |
Short Syndrome |
|
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Insulin res... |
ORPHA:3163 |
Glycogen Storage Disease Ia |
|
Hepatomegaly, Hypoglycemia, Proteinuria, Decreased glomerular filtration rate, Hyperlipidemia, Ne... |
OMIM:232200 |
7Q11.23 Microduplication Syndrome |
|
Hyperactivity, Collectionism, Ventricular septal defect, Inguinal hernia, Congenital diaphragmati... |
ORPHA:96121 |
Monosomy 13Q34 |
|
Hypercalcemia, Insulin resistance, Fetal pyelectasis, Obesity, Pulmonic stenosis, Common atrium |
ORPHA:96168 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Urinary incontinence, Obesity, Urinary urgency, Dysphagia, Urinary bladder sphincter dysfunction |
OMIM:604360 |
Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Hypospadias, Renal agenesis, Obesity, Renal hypoplasia, Umbilical hernia, Micropenis |
ORPHA:171839 |
H Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Lipodystrophy, Abnormality of the kidney, Hepatosplenome... |
ORPHA:168569 |
Microtriplication 11Q24.1 |
|
Hyperlipidemia, Obesity, Bruxism |
ORPHA:289522 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, Flexion contracture, Panniculiti... |
OMIM:617591 |
Immunodeficiency 61 |
|
Obesity, Attention deficit hyperactivity disorder |
OMIM:300310 |
Summitt Syndrome |
|
Camptodactyly of finger, Obesity, Tall stature |
ORPHA:3210 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Glycogen Storage Disease Ixc |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Fasting hypoglycemia |
OMIM:613027 |
Immunodeficiency 109 With Lymphoproliferation |
|
Splenomegaly, Hypertriglyceridemia |
OMIM:620282 |
Werner Syndrome |
|
Renal neoplasm, Lipodystrophy, Lipoatrophy, Insulin resistance, Hypogonadism, Thyroid carcinoma, ... |
ORPHA:902 |
Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Diabetes mellitus, Ventricular septal defect, Lipodystrophy,... |
OMIM:270450 |
Gaisböck Syndrome |
|
Diabetes mellitus, Hypertriglyceridemia, Overweight, Splenomegaly, Obesity, Nephrocalcinosis, Hyp... |
ORPHA:90041 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... |
OMIM:205400 |
Whipple Disease |
|
Hyponatremia, Hepatomegaly, Pericarditis, Anorexia, Cachexia, Splenomegaly, Insulin resistance, M... |
ORPHA:3452 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Rafiq Syndrome |
|
Truncal obesity, Flexion contracture, Obesity, Aggressive behavior |
OMIM:614202 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Glucose intolerance, Tubulo... |
ORPHA:358 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Obesity |
ORPHA:3077 |
Pseudohypoparathyroidism, Type Ia |
|
Pseudohypoparathyroidism, Obesity, Elevated circulating parathyroid hormone level, Hypogonadism, ... |
OMIM:103580 |
Bardet-Biedl Syndrome 17 |
|
Dextrocardia, Polyuria, Situs inversus totalis, Obesity, Renal cyst, Micropenis, Stage 5 chronic ... |
OMIM:615994 |
Bardet-Biedl Syndrome 21 |
|
Overweight, Obesity, Horseshoe kidney |
OMIM:617406 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Hypospadias, Cachexia, Precocious puberty, Insulin resistance, Obes... |
ORPHA:813 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Small for gestational age, Increased circulating gonadotropin level, Abdominal obesity, Hypogonad... |
OMIM:300869 |
Polycystic Ovary Syndrome 1 |
|
Enlarged polycystic ovaries, Obesity |
OMIM:184700 |
Cholesteryl Ester Storage Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcificatio... |
OMIM:278000 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hypoalbuminemia, Hypopituitarism, Hypothyroidism |
OMIM:619013 |
Beckwith-Wiedemann Syndrome |
|
Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Nephroblastoma, Cardiomegaly, Adrenocortica... |
OMIM:130650 |
19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Ventricular septal defect, Hypospadias, Precocious puberty, Hyperlipidemia, Obesit... |
ORPHA:254346 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Splenomegaly, Hypertriglyceridemia, Panniculitis, Increased circulating ferritin concentration |
OMIM:618398 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
Pituitary Adenoma 4, Acth-Secreting |
|
Impaired glucose tolerance, Pituitary adenoma, Increased circulating ACTH level, Obesity, Nephrol... |
OMIM:219090 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
Intellectual Developmental Disorder, X-Linked 107 |
|
Hyperactivity, Obesity, Attention deficit hyperactivity disorder, Aggressive behavior |
OMIM:301013 |
Clark-Baraitser Syndrome |
|
Hyperactivity, Obesity, Aggressive behavior |
OMIM:617752 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Pseudohypoparathyroidism, Obesity |
OMIM:612463 |
Bardet-Biedl Syndrome 3 |
|
Obesity, Renal hypoplasia |
OMIM:600151 |
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome |
|
Obesity, Congenital hypothyroidism |
ORPHA:352530 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hepatomegaly, Hyperphosphaturia, Diabetes mellitus, Hypoglycemia, Hypouricemia, Proteinuria, Larg... |
OMIM:616026 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa... |
ORPHA:158057 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Congenital diap... |
ORPHA:94065 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity |
OMIM:303110 |
Nephrotic Syndrome, Type 2 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:600995 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... |
OMIM:219080 |
Lysinuric Protein Intolerance |
|
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... |
ORPHA:470 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Obesity, Truncal obesity, Enamel hypoplasia, Amelogenesis imper... |
OMIM:618363 |
Senior-Loken Syndrome 9 |
|
Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, Nephronophth... |
OMIM:616629 |
Glycogen Storage Disease Iii |
|
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating creatine kinase concent... |
OMIM:232400 |
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Severe temper tantrums, Obesity, Stereotypical hand wringing |
OMIM:619854 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Camptodactyly of finger, Abnormality of the ureter, Obesity, Hypogonadism, F... |
ORPHA:3409 |
Glycogen Storage Disease Ib |
|
Hepatomegaly, Hypoglycemia, Proteinuria, Decreased glomerular filtration rate, Splenomegaly, Hype... |
OMIM:232220 |
Rhizomelic Limb Shortening With Dysmorphic Features |
|
Stage 1 chronic kidney disease, Patent foramen ovale, Obesity |
OMIM:618821 |
Baralle-Macken Syndrome |
|
Urinary incontinence, Obesity |
OMIM:619255 |
Intellectual Developmental Disorder, Autosomal Recessive 13 |
|
Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism |
OMIM:613192 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Meckel Syndrome, Type 8 |
|
Pericardial effusion, Hyperechogenic kidneys, Polycystic kidney dysplasia, Enlarged kidney |
OMIM:613885 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Large for gestational age, N... |
ORPHA:116 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Calcinosis, Insulin resistance, Hyperlipidemia, Generalized lipodystrophy, Delayed puberty |
ORPHA:90154 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Nephrocalcinosis, Obesity |
OMIM:615633 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Hepatomegaly, Ketonu... |
ORPHA:247598 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Hyperglycemia, Hypergonadotropic hypogonadism, Obesity |
OMIM:619737 |
Helsmoortel-Van Der Aa Syndrome |
|
Atrial septal defect, Hyperactivity, Recurrent urinary tract infections, Decreased response to gr... |
OMIM:615873 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Obesity |
OMIM:606772 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hyperactivity, Obesity |
ORPHA:397973 |
Familial Chylomicronemia Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Hyperlipidemia, Hepatosplenomegaly, Increased circulatin... |
ORPHA:444490 |
Tyrosinemia, Type I |
|
Hypertyrosinemia, Hepatomegaly, Renal insufficiency, Hypoglycemia, Elevated circulating alpha-fet... |
OMIM:276700 |
Adnp Syndrome |
|
Inguinal hernia, Recurrent urinary tract infections, Urinary incontinence, Aggressive behavior, O... |
ORPHA:404448 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Obesity |
ORPHA:521390 |
Wilson-Turner Syndrome |
|
Truncal obesity, Hypogonadotropic hypogonadism |
ORPHA:3459 |
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketonuria, Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure ... |
ORPHA:2089 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Decreased glomerular filtration rate, Ch... |
ORPHA:730 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Obesity, Abnormal he... |
ORPHA:261197 |
Bardet-Biedl Syndrome 1 |
|
Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes insipidus, Insulin resistance,... |
OMIM:209900 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome,... |
OMIM:256300 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1 |
|
Class III obesity, Hypomagnesemia |
OMIM:616418 |
Trisomy 18P |
|
Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Hyperlipoproteinemia, Type Id |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Decrea... |
OMIM:615947 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Abnormality of the endocrine system, Renal hypoplasia, Pseudohypoparathyroidism, Obesity, Vesicou... |
ORPHA:464288 |
13Q12.3 Microdeletion Syndrome |
|
Hyperactivity, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive, Self-m... |
ORPHA:412035 |
Megalencephaly |
|
Atrial septal defect, Truncal obesity, Long penis |
ORPHA:2477 |
Retinal Dystrophy And Obesity |
|
Obesity |
OMIM:616188 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Flexion contracture, Obesity, Bruxism, Male hypogonadism, Wrist flexion contracture |
OMIM:300055 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Hypospadias, Pr... |
ORPHA:96182 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Bruxism, Micropenis, Recurr... |
OMIM:156200 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... |
OMIM:605814 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:2429 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Truncal obesity, Abdominal obesity, Decreased response to growth hormone stimulation test, Anteri... |
OMIM:618160 |
Papular Xanthoma |
|
Hyperlipidemia |
ORPHA:158008 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Proteinuria, Hyperlipidemia, Thyroiditis, Hypog... |
ORPHA:79259 |
Wagr Syndrome |
|
Displacement of the urethral meatus, Obesity |
ORPHA:893 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Puberty and gonadal disorders, Urinary incontinence, Obesity |
ORPHA:464282 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Truncal obesity |
ORPHA:85280 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Hepatomegaly, Hyperactivity, Aggressive behavior, Precocious puberty, Obesity, Skin-picking, Abno... |
ORPHA:163681 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Camptodactyly of finger |
ORPHA:2928 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
Laurence-Moon Syndrome |
|
Micropenis, Obesity |
OMIM:245800 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hypertension, Type II dia... |
ORPHA:401923 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome |
|
Renal insufficiency, Streak ovary, Hypospadias, Obesity, Nephropathy, Nephroblastoma |
OMIM:194072 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Flexion contracture, Nephrotic syndrome, Focal segmental... |
OMIM:617303 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Hypertriglyceridemia, Hypercalcemia, Precocious puberty, Obesity, Renal cyst,... |
ORPHA:369837 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Ventricular septal defect, Aggressive behavior, Disproportionate tall stature, Abdominal obesity,... |
OMIM:301039 |
Dopamine Beta-Hydroxylase Deficiency |
|
Hypoglycemia, Insulin resistance, Elevated urinary dopamine level, Elevated circulating creatinin... |
ORPHA:230 |
48,Xxxy Syndrome |
|
Inguinal hernia, Hypoplasia of penis, Abnormal dental enamel morphology, Obesity, Hypogonadism, T... |
ORPHA:96263 |
Weaver Syndrome |
|
Inguinal hernia, Overgrowth, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Poly... |
OMIM:277590 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Obesity |
OMIM:300238 |
Chromosome 16P13.3 Deletion Syndrome, Proximal |
|
Failure to thrive, Hypoplastic left heart, Obesity, Abnormality of the kidney |
OMIM:610543 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Truncal obesity, Hypogonadism, Flexion contracture of digit,... |
ORPHA:3041 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Hypospadias, Aggressive behavior, Abdominal obesity, Hypogonadism, Delayed puberty... |
OMIM:300354 |
Retinitis Pigmentosa 51 |
|
Obesity, Abnormality of the kidney |
OMIM:613464 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Hepatomegaly, Hypertriglyceridemia, Obesity, Cardiomyopathy, Abnormal circulating creatine kinase... |
ORPHA:98907 |
Congenital-Onset Steinert Myotonic Dystrophy |
|
Hyperactivity, Obesity, Dysphagia, Enuresis, Abnormal cardiac septum morphology, Decreased body w... |
ORPHA:589821 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Hyperactivity, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms... |
OMIM:618430 |
Tatton-Brown-Rahman Syndrome |
|
Aggressive behavior, Obesity, Proportionate tall stature, Atrial septal defect, Umbilical hernia,... |
ORPHA:404443 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Ventricular septal defect, Aggressive behavior, Micropenis, Polyphagia, Self-mutila... |
ORPHA:251028 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Obesity, Tall stature |
OMIM:618089 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Multiple lipomas, Overgrowth, Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Obesity |
OMIM:618124 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
|
Hypertriglyceridemia, Pericardial effusion, Increased circulating ferritin concentration, Hypopla... |
OMIM:619313 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
Webb-Dattani Syndrome |
|
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... |
OMIM:615926 |
1P36 Deletion Syndrome |
|
Failure to thrive, Hypoplasia of penis, Abnormal heart valve morphology, Camptodactyly of finger,... |
ORPHA:1606 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Renal insufficiency, Bicuspid aortic valve, Ventricular septal defect, Hypos... |
ORPHA:261494 |
Angelman Syndrome Due To A Point Mutation |
|
Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysphagia, Recurrent... |
ORPHA:411511 |
X-Linked Intellectual Disability, Hedera Type |
|
Left ventricular hypertrophy, Obesity |
ORPHA:93952 |
Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Polydipsia, Abnor... |
ORPHA:3157 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t... |
OMIM:615300 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Hypogonadism, Obesity |
OMIM:601794 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Hypogonadism, Obesity |
ORPHA:363741 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Diabetes mellitus, Hypertriglyceridemia, Obesity, Pineal cyst, Cardiomyopathy, Abno... |
ORPHA:98908 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Congenital diaphragmatic hernia, Obesity, Weight loss, Hypertrophic cardiomyopathy, ... |
ORPHA:251071 |
Atypical Werner Syndrome |
|
Fasting hyperinsulinemia, Hyperglycemia, Renal neoplasm, Abnormal circulating leptin concentratio... |
ORPHA:79474 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Organic aciduria, Pica, Obesity, Aggressive behavior |
OMIM:620191 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co... |
OMIM:603553 |
Rett Syndrome |
|
Increased serum pyruvate, Hyperammonemia, Agitation, Increased serum leptin, Failure to thrive, A... |
ORPHA:778 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... |
OMIM:603278 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Impaired glucose tol... |
OMIM:256040 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Peripartum Cardiomyopathy |
|
Diabetes mellitus, Abnormality of thyroid physiology, Left atrial enlargement, Myocarditis, Dilat... |
ORPHA:563 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Pericardial effusion, Elevated circulating thyroid-... |
OMIM:618183 |
Joubert Syndrome 37 |
|
Hydronephrosis, Hepatomegaly, Micropenis, Obesity |
OMIM:619185 |
White-Sutton Syndrome |
|
Duplicated collecting system, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavior... |
OMIM:616364 |
Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity |
ORPHA:69663 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Attention deficit hyperactivity disorder, Increased body weight, Impulsivity |
ORPHA:589905 |
Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Failure to thrive, Inguinal hernia, Femoral hernia, Hypoplasia of penis, Renal insufficiency, Obe... |
ORPHA:96147 |
Atkin-Flaitz Syndrome |
|
Obesity |
ORPHA:1193 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... |
ORPHA:99832 |
Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Weight loss, Abnormality of connective tissue, Failure to thrive, Enlarged kidney |
ORPHA:79128 |
Citrullinemia, Type Ii, Adult-Onset |
|
Hypertriglyceridemia, Hyperammonemia, Argininosuccinic aciduria, Hyperargininemia, Elevated plasm... |
OMIM:603471 |
Diaphanospondylodysostosis |
|
Inguinal hernia, Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia,... |
OMIM:608022 |
Bardet-Biedl Syndrome |
|
Multicystic kidney dysplasia, Hypoplasia of penis, Obesity, Nephrotic syndrome, Hypoplasia of the... |
ORPHA:110 |
Bloom Syndrome |
|
Recurrent urinary tract infections, Diabetes mellitus, Small for gestational age, Adipose tissue ... |
ORPHA:125 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Obesity |
ORPHA:459033 |
Ring Chromosome Y Syndrome |
|
Streak ovary, Hypospadias, Obesity, Perineal hypospadias, Male hypogonadism, Urogenital sinus ano... |
ORPHA:261529 |
Chylomicron Retention Disease |
|
Failure to thrive, Hypocholesterolemia, Steatorrhea, Hypertriglyceridemia |
ORPHA:71 |
Xp22.13P22.2 Duplication Syndrome |
|
Truncal obesity, Congenital diaphragmatic hernia, Umbilical hernia, Attention deficit hyperactivi... |
ORPHA:284180 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Lipoatrophy, Pulmonary... |
ORPHA:363618 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Radio-Tartaglia Syndrome |
|
Ventricular septal defect, Impulsivity, Aggressive behavior, Precocious puberty, Obesity, Attenti... |
OMIM:619312 |
Clark-Baraitser syndrome |
|
Obesity, Tall stature |
OMIM:300602 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Obesity, Aggressive behavior |
OMIM:619056 |
Carpenter Syndrome 1 |
|
Omphalocele, Hydroureter, Ventricular septal defect, Precocious puberty, Obesity, Joint contractu... |
OMIM:201000 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Ventricular septal defect, Large for gestational age, Abn... |
ORPHA:254534 |
2Q37 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Obesity, Attention deficit hyperac... |
ORPHA:1001 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Cornelia De Lange Syndrome 5 |
|
Truncal obesity, Micropenis, Hypogonadism |
OMIM:300882 |
Macrocephaly/Autism Syndrome |
|
Hepatomegaly, Penile freckling, Large for gestational age, Splenomegaly, Obesity, Overgrowth |
OMIM:605309 |
Kleefstra Syndrome 1 |
|
Hypospadias, Aggressive behavior, Abnormal renal morphology, Obesity, Conotruncal defect, Compuls... |
OMIM:610253 |
Sheehan Syndrome |
|
Hyponatremia, Decreased circulating cortisol level, Hypoglycemia, Reduced circulating prolactin c... |
ORPHA:91355 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Marbach-Rustad Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Insulin resistance, Ventricular septal hypertrophy |
OMIM:619322 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Inguinal hernia, Multicystic kidney dysplasia, Ventricular septal defect, Larg... |
ORPHA:500095 |
Müllerian Aplasia And Hyperandrogenism |
|
Renal agenesis, Obesity, Increased serum testosterone level |
ORPHA:247768 |
X-Linked Intellectual Disability, Cabezas Type |
|
Hyperactivity, Inguinal hernia, Hypoplasia of penis, Camptodactyly of finger, Cachexia, Aggressiv... |
ORPHA:85293 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmoni... |
OMIM:615415 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laughter, Dysph... |
ORPHA:98794 |
Carpenter Syndrome |
|
Umbilical hernia, Obesity |
ORPHA:65759 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia |
OMIM:177000 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Camptodactyly of ... |
OMIM:607872 |
Idiopathic Intracranial Hypertension |
|
Obesity |
ORPHA:238624 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... |
ORPHA:158061 |
X-Linked Intellectual Disability, Stevenson Type |
|
Obesity, Tall stature |
ORPHA:85325 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... |
ORPHA:226313 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating... |
ORPHA:64 |
Idiopathic Neonatal Atrial Flutter |
|
Maternal diabetes, Large for gestational age |
ORPHA:45452 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... |
ORPHA:228308 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Microphallus, Small for gestational age, Truncal obesity |
OMIM:300957 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormal dental enamel morphology, Obesity |
ORPHA:2180 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Flexion contracture, Abnormal heart morphology, ... |
ORPHA:505248 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Dextrocardia, Urethral atresia, Transposition of the great arteries, Atrioventricular canal defec... |
OMIM:314390 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... |
OMIM:255120 |
Down Syndrome |
|
Renal hypoplasia/aplasia, Obesity, Type II diabetes mellitus, Umbilical hernia, Hypothyroidism |
ORPHA:870 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Aggressive behavior, Obesity, Enuresis nocturna, Attention deficit hyperactivity disorder, Recurr... |
OMIM:619680 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Aggressive behavior, Increased body weight, Horseshoe kidney, Self-injurious behavior, Micropenis |
OMIM:300860 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Inguinal hernia, Diabetes mellitus, Hypertriglyceridemia, Widened atrophic scar, ... |
ORPHA:536532 |
Kleefstra Syndrome Due To A Point Mutation |
|
Inguinal hernia, Abnormality of the kidney, Large for gestational age, Precocious puberty, Abnorm... |
ORPHA:261652 |
X-Linked Intellectual Disability, Shashi Type |
|
Obesity |
ORPHA:85286 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Hypertriglyceridemia, Ventricular septal defect, Multiple small med... |
OMIM:118450 |
Meacham Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Aplasia of the right hemidiaphrag... |
OMIM:608978 |
Glycerol Kinase Deficiency |
|
Adrenocortical hypoplasia, Hypertriglyceridemia, Small for gestational age, Hypoglycemia, Hypergl... |
OMIM:307030 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
ORPHA:540 |
Distal Deletion 12Q |
|
Hyperactivity, Diabetes mellitus, Failure to thrive in infancy, Maturity-onset diabetes of the yo... |
ORPHA:96149 |
Pde4D Haploinsufficiency Syndrome |
|
Abnormal dental enamel morphology, Elevated circulating parathyroid hormone level, Hypospadias, O... |
ORPHA:439822 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Renal salt wasting, Primary ... |
ORPHA:275761 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Insulin resistance, Flexion contracture, Hyperlipidemia |
ORPHA:90153 |
Werner Syndrome |
|
Diabetes mellitus, Hypogonadism, Elevated hemoglobin A1c, Hypertriglyceridemia |
OMIM:277700 |
Chromosome 3Q29 Duplication Syndrome |
|
Obesity |
OMIM:611936 |
White-Sutton Syndrome |
|
Ventral hernia, Duplicated collecting system, Hyperactivity, Inguinal hernia, Congenital diaphrag... |
ORPHA:468678 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency |
|
Hyperlipidemia, Hypoglycemia, Hyperuricemia |
ORPHA:364 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Congenital Myopathy 9A |
|
Obesity |
OMIM:618822 |
Den Hoed-De Boer-Voisin Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Overweight, Obesity, Agitation, Dy... |
OMIM:619229 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Splenomegaly, Hyperlipidemia, Multiple lipomas, Abnormality of urine homeostasis |
ORPHA:1414 |
Igg4-Related Kidney Disease |
|
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... |
ORPHA:449395 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Renal insufficiency, Elevated circulating C-reactive protein concentration, Overwei... |
ORPHA:247353 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Hepatomegaly, Hypertriglyceridemia, Ventricular septal defect, Hypoglycemia, Failure to thrive in... |
OMIM:619418 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hyperglycemia, Mildly elevated creatine kinase, Hyperlipidemia |
OMIM:604484 |
Bardet-Biedl Syndrome 12 |
|
Hydroureter, Obesity, Cystic renal dysplasia, Hypogonadism, Hydronephrosis |
OMIM:615989 |
Alg9-Cdg |
|
Omphalocele, Hepatomegaly, Hypoplasia of the bladder, Ventricular septal defect, Lipodystrophy, U... |
ORPHA:79328 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... |
ORPHA:157 |
Aapoaiv Amyloidosis |
|
Diabetes mellitus, Proteinuria, Cardiac amyloidosis, Abnormal renal medulla morphology, Hyperlipi... |
ORPHA:439232 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Inguinal hernia, Increased serum beta-hexosaminidase, Cardiomegaly, Splenomegaly, M... |
OMIM:252500 |
Immunodeficiency 97 With Autoinflammation |
|
Recurrent urinary tract infections, Hypertriglyceridemia, Splenomegaly, Increased circulating fer... |
OMIM:619802 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hepatomegaly, Mitral valve calcification, Hypertriglyceridemia, Proteinuria, Elevated hemoglobin ... |
OMIM:619127 |
Borjeson-Forssman-Lehmann Syndrome |
|
Camptodactyly of toe, Truncal obesity, Hypoplasia of penis, Hypogonadism |
ORPHA:127 |
Shox-Related Short Stature |
|
Obesity |
ORPHA:314795 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Precocious puberty, Obesity, Hydronephrosis, Type I diabetes mellitus, Moderate albuminuria, Dent... |
OMIM:619269 |
Methanol Poisoning |
|
Type I diabetes mellitus, Hyperlipidemia, Addictive alcohol use, Type II diabetes mellitus |
ORPHA:31825 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Overgrowth, Obesity, Aggressive behavior |
OMIM:620250 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... |
ORPHA:79102 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Camptodactyly of finger, Obesity, Renal hypoplasi... |
ORPHA:3138 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Ventricular septal defect, Aggressive behavior, Hair-pulling, Polyphagia, Self-injur... |
OMIM:620330 |
Solitary Fibrous Tumor |
|
Hypoglycemia, Reduced C-peptide level, Weight loss, Recurrent hypoglycemia, Urinary retention, Hy... |
ORPHA:2126 |
Distal Triplication 15Q |
|
Abnormality of the kidney, Large for gestational age, Birth length greater than 97th percentile, ... |
ORPHA:314588 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Congenital diaphragmatic hernia... |
OMIM:194080 |
Cholestasis-Lymphedema Syndrome |
|
Splenomegaly, Hepatomegaly, Hyperlipidemia, Conjugated hyperbilirubinemia |
OMIM:214900 |
Wilson Disease |
|
Hepatomegaly, Aggressive behavior, Hypersexuality, Splenomegaly, Increased body weight, Weight lo... |
ORPHA:905 |
Ogden Syndrome |
|
Global glomerulosclerosis, Inguinal hernia, Bicuspid aortic valve, Left atrial enlargement, Mater... |
OMIM:300855 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Proteinuria, Obesity, Atrial septal defect, Male hypogonadism, Micropenis |
OMIM:619471 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Hypogonadotropic hypogonadism, Elevated circulating creatine kinase concent... |
ORPHA:261476 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Sotos Syndrome |
|
Tall stature, Ventricular septal defect, Abnormality of the kidney, Aggressive behavior, Muscular... |
OMIM:117550 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Obesity, Neonatal hypoglycemia |
OMIM:608624 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Momo Syndrome |
|
Large for gestational age, Abnormality of the thyroid gland, Obesity, Overgrowth, Tall stature |
ORPHA:2563 |
Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Inguinal hernia, Unilateral renal agenesis, Umbilical hernia, Enlarged kidney |
OMIM:618188 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Enlarged kidney, Increased myocardial glycogen content, Biven... |
OMIM:261740 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Impaired glucose tolera... |
ORPHA:96253 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Hepatomegaly, Hypoglycemia, Aggressive behavior, Precocious puberty, Obesity, Hepatosplenomegaly,... |
OMIM:301066 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Situs inversus totalis, Splenomegaly, Ureteral atresia, Stage ... |
OMIM:208540 |
Adiposis Dolorosa |
|
Hypothyroidism, Obesity |
ORPHA:36397 |
Atelis Syndrome 2 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Supravalvar pul... |
OMIM:620185 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Hepatomegaly, Obesity, Compulsive behaviors |
OMIM:618443 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,... |
ORPHA:3455 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypoplasia of penis, Hypogonadotropic hyp... |
ORPHA:478 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Failure to thrive in infancy, High urinary gonadotropin level, Ectopic kid... |
ORPHA:99413 |
Turner Syndrome |
|
Bicuspid aortic valve, Failure to thrive in infancy, High urinary gonadotropin level, Ectopic kid... |
ORPHA:881 |
Mosaic Monosomy X |
|
Bicuspid aortic valve, Failure to thrive in infancy, High urinary gonadotropin level, Ectopic kid... |
ORPHA:99228 |
Monosomy X |
|
Bicuspid aortic valve, Failure to thrive in infancy, High urinary gonadotropin level, Ectopic kid... |
ORPHA:99226 |
Nestor-Guillermo Progeria Syndrome |
|
Lipoatrophy, Left atrial enlargement, Decreased serum leptin, Flexion contracture, Failure to thr... |
OMIM:614008 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
|
Hepatomegaly, Decreased serum insulin-like growth factor 1, Decreased HDL cholesterol concentrati... |
ORPHA:77293 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Hepatomegaly, Small for gestational age, Limb joint contracture, Decreased resting energy expendi... |
ORPHA:404454 |
Joubert Syndrome 8 |
|
Hepatomegaly, Obesity |
OMIM:612291 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Impulsivity, Aggressive behavior, Overweight, Flexion contracture, Hypogonadis... |
ORPHA:500055 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Abnormal repetitive mannerisms, Obesity, Vesicoureteral reflux, Micropenis, Pelv... |
OMIM:618653 |
Liver Disease, Severe Congenital |
|
Cardiomegaly, Aminoaciduria, Hypocalcemia, Elevated hepatic iron concentration, Atrial septal def... |
OMIM:619991 |
Kabuki Syndrome |
|
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Cong... |
ORPHA:2322 |
Cardiac-Urogenital Syndrome |
|
Cor triatrium sinister, Penoscrotal hypospadias, Ventricular septal defect, Dextrocardia, Coronar... |
OMIM:618280 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... |
OMIM:614098 |
Rabin-Pappas Syndrome |
|
Hyponatremia, Overgrowth, Obesity, Failure to thrive in infancy |
OMIM:620155 |
Prader-Willi Syndrome Due To Translocation |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Anterior pi... |
ORPHA:177907 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Angelman Syndrome |
|
Hyperactivity, Paroxysmal bursts of laughter, Obesity |
OMIM:105830 |
Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, G... |
OMIM:194050 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Anorexia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Panc... |
ORPHA:99889 |
Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney |
OMIM:200995 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Aggressive behavior, Dilatation of renal calices, Obesity, Self-injurious behavior, Truncal obesi... |
ORPHA:466950 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Overweight, Atrial septal defect, Umbilical hernia |
OMIM:619769 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Truncal obesity, Hypospadias |
ORPHA:3224 |
Chops Syndrome |
|
Ventricular septal defect, Splenomegaly, Obesity, Anomalous pulmonary venous return, Horseshoe ki... |
OMIM:616368 |
Meningioma |
|
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Ur... |
ORPHA:2495 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Compulsive behaviors, Vesicoureteral reflux, Atrial septal defect, Abnorma... |
ORPHA:353281 |
Cohen Syndrome |
|
Small for gestational age, Decreased response to growth hormone stimulation test, Mitral valve pr... |
OMIM:216550 |
Perlman Syndrome |
|
Nephrogenic rest, Hypoglycemia, Renal hamartoma, Congenital diaphragmatic hernia, Large for gesta... |
OMIM:267000 |
1P21.3 Microdeletion Syndrome |
|
Abnormal eating behavior, Aggressive behavior, Obesity, Self-injurious behavior, Self-mutilation |
ORPHA:293948 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Failure to thrive, Aggressive behavior, Tongue thrusting, Obesity, Mitral valve prolapse, Enuresi... |
ORPHA:369950 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Obesity |
ORPHA:174 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Ventricular septal defect, Obesity |
ORPHA:251038 |
Hutchinson-Gilford Progeria Syndrome |
|
Ventricular hypertrophy, Mitral valve calcification, Female hypogonadism, Mitral stenosis, Decrea... |
ORPHA:740 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Small for gestational age, Lipoatrophy... |
OMIM:264090 |
Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Adrenal hypoplasia, Microphallus, Hyperechogenic kidneys, Enlarged kidney |
OMIM:612651 |
Kaposiform Lymphangiomatosis |
|
Pericardial effusion, Splenomegaly, Hepatosplenomegaly, Multiple renal cysts, Enlarged kidney |
ORPHA:464329 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Oliguria, St... |
ORPHA:731 |
Momo Syndrome |
|
Overgrowth, Obesity |
OMIM:157980 |
Desbuquois Dysplasia 1 |
|
Obesity |
OMIM:251450 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Hypertriglyceridemia, Small for gestational age, Elevated circulating C-reactive pr... |
OMIM:619573 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Elbow flexion contracture, Obesity |
OMIM:618493 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Ketonuria, Large for gestational age, Aminoaciduria, Umbilical hernia, Failure to thrive |
OMIM:614520 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Hypocalcemia, Vesicoureteral reflux, Atrial septal defect, Hypothyroidi... |
ORPHA:567 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Renal cyst, Atrial septal defect, Hepatomegaly, Hypospadias, Car... |
OMIM:312870 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia, Hypospadias |
OMIM:610644 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Ventricular septal defect, Obesity, Ventricular septal hypertrophy |
OMIM:614947 |
Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hypocholesterolemia, Left ventricular hypertrophy, Coro... |
ORPHA:31150 |
Digeorge Syndrome |
|
Renal dysplasia, Inguinal hernia, Renal insufficiency, Parathyroid agenesis, Ventricular septal d... |
OMIM:188400 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Streak ovary, Bicuspid aortic valve, Hypospadias, Abnormality of the kidney, Epispadias, Increase... |
ORPHA:1772 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Obesity |
OMIM:618395 |
Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... |
ORPHA:904 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypospadias, Precocious puberty, Truncal obesity, Type II diabetes mellitus, Enamel hypoplasia |
OMIM:210720 |
Retinitis Pigmentosa 74 |
|
Abnormal renal morphology, Obesity |
OMIM:616562 |
Cohen Syndrome |
|
Ventricular septal defect, Failure to thrive in infancy, Obesity, Mitral valve prolapse, Delayed ... |
ORPHA:193 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Dilatation of renal calices, Obesity, Self-injurious behavior, Attention def... |
ORPHA:466943 |
Joubert Syndrome 39 |
|
Overweight, Hypoplastic left heart, Joint contracture of the 5th finger, Polycystic kidney dysplasia |
OMIM:619562 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Attention deficit hyperacti... |
OMIM:616078 |
Hemophagocytic Syndrome Associated With An Infection |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
ORPHA:158048 |
Lysinuric Protein Intolerance |
|
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Oroticac... |
OMIM:222700 |
Schimke Immuno-Osseous Dysplasia |
|
Small for gestational age, Abnormality of thyroid physiology, Microscopic hematuria, Minimal chan... |
ORPHA:1830 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
Chédiak-Higashi Syndrome |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Splenomegaly, Increased circulating fer... |
ORPHA:167 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bicuspid aortic valve, Tics, Compulsive behaviors, Micropenis, Abnormal repetitive mannerisms, Re... |
OMIM:619475 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Overweight, Obesity, Dysphagia |
ORPHA:2822 |
White-Kernohan Syndrome |
|
Hydroureter, Obesity, Horseshoe kidney, Attention deficit hyperactivity disorder, Hypothyroidism,... |
OMIM:619426 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Obesity |
OMIM:617296 |
Griscelli Syndrome Type 1 |
|
Hyperlipidemia |
ORPHA:79476 |
Achondroplasia |
|
Obesity |
ORPHA:15 |
Monosomy 22Q13.3 |
|
Renal dysplasia, Hyperactivity, Hair-pulling, Obesity, Bruxism, Vesicoureteral reflux, Umbilical ... |
ORPHA:48652 |
Pmm2-Cdg |
|
Pericarditis, Multiple joint contractures, Hypogonadotropic hypogonadism, Lipodystrophy, Elevated... |
ORPHA:79318 |
Thalidomide Embryopathy |
|
Insulin resistance |
ORPHA:3312 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Precocious puberty, Atrial septal defect, Truncal obesity, Attention deficit hyperactivity disorder |
ORPHA:2637 |
Thauvin-Robinet-Faivre Syndrome |
|
Renal malrotation, Inguinal hernia, Ventricular septal defect, Large for gestational age, Renal c... |
OMIM:617107 |
Retinal Dystrophy With Or Without Macular Staphyloma |
|
Truncal obesity |
OMIM:617547 |
Xylt1-Cdg |
|
Hepatomegaly, Truncal obesity |
ORPHA:370930 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Compulsive behaviors, Vesicoureteral reflux, Atrial septal defect, Patent ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Compulsive behaviors, Vesicoureteral reflux, Atrial septal defect, Patent ... |
ORPHA:353277 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
Griscelli Syndrome Type 2 |
|
Splenomegaly, Hepatomegaly, Hyperlipidemia |
ORPHA:79477 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Hepatomegaly, Diabetes mellitus, Elevated circulating creatine kinase concentration, Splenomegaly... |
ORPHA:565612 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Flexion contracture, Renal hypoplasia, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Micr... |
OMIM:619321 |
Diamond-Blackfan Anemia 21 |
|
Secundum atrial septal defect, Obesity |
OMIM:620072 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Moderate albuminuria, Diabetes mellitus, Hypogonadism, Obesity |
OMIM:614231 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypospadias, Hy... |
ORPHA:444077 |
17Q24.2 Microdeletion Syndrome |
|
Failure to thrive in infancy, Decreased response to growth hormone stimulation test, Aggressive b... |
ORPHA:529962 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Fabry Disease |
|
Abnormal endocardium morphology, Glomerulopathy, Renal insufficiency, Proteinuria, Anorexia, Hype... |
ORPHA:324 |
Glycogen Storage Disease Ic |
|
Hepatomegaly, Renal insufficiency, Hypoglycemia, Proteinuria, Hyperlipidemia, Hematuria, Xanthela... |
OMIM:232240 |
Carney Complex |
|
Tall stature, Euthyroid multinodular goiter, Dorsocervical fat pad, Follicular thyroid carcinoma,... |
ORPHA:1359 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Hepatomegaly, Limb joint contracture, Splenomegaly, Flexion contracture, Truncal obesity |
OMIM:301072 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Obesity |
ORPHA:319675 |
Parenteral Nutrition-Associated Cholestasis |
|
Hepatomegaly, Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Abnormal ci... |
ORPHA:567983 |
Tenorio Syndrome |
|
Enuresis, Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Woodhouse-Sakati Syndrome |
|
Decreased serum insulin-like growth factor 1, Diabetes mellitus, Hypogonadotropic hypogonadism, H... |
OMIM:241080 |
Chronic Thromboembolic Pulmonary Hypertension |
|
Elevated circulating C-reactive protein concentration, Obesity, Right ventricular dilatation, Inc... |
ORPHA:70591 |
Rubinstein-Taybi Syndrome 1 |
|
Hyperactivity, Ventricular septal defect, Small for gestational age, Premature thelarche, Impulsi... |
OMIM:180849 |
Myhre Syndrome |
|
Ventricular septal defect, Small for gestational age, Pericardial effusion, Obesity, Camptodactyl... |
OMIM:139210 |
Desbuquois Dysplasia 2 |
|
Truncal obesity |
OMIM:615777 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
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Obesity |
OMIM:250420 |
Tako-Tsubo Cardiomyopathy |
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Dilatation of the ventricular cavity, Obesity, Abnormal B-type natriuretic peptide concentration,... |
ORPHA:66529 |
Witteveen-Kolk Syndrome |
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Hyperactivity, Inguinal hernia, Small for gestational age, Decreased response to growth hormone s... |
OMIM:613406 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
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Minimal change glomerulonephritis, Hyperlipidemia, Chronic kidney disease, Stage 5 chronic kidney... |
ORPHA:567546 |
Primrose Syndrome |
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Restlessness, Hip contracture, Diabetes mellitus, Hypergonadotropic hypogonadism, Elevated circul... |
OMIM:259050 |
Ulnar-Mammary Syndrome |
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Ectopic posterior pituitary, Inguinal hernia, Ventricular septal defect, Anterior pituitary hypop... |
OMIM:181450 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Recurrent urinary tract infections, Renal hypoplasia, Pseudohypoparathyroidism, Obesity, Failure ... |
OMIM:617157 |
Carpenter Syndrome 2 |
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Dextrocardia, Situs inversus totalis, Obesity, Knee flexion contracture, Transposition of the gre... |
OMIM:614976 |
Combined Deficiency Of Factor V And Factor Viii |
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Hematuria, Hyperlipidemia, Hyperuricemia |
ORPHA:35909 |
Cornelia De Lange Syndrome |
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Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Congen... |
ORPHA:199 |
6Q Terminal Deletion Syndrome |
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Failure to thrive, Hypospadias, Obesity, Phimosis |
ORPHA:75857 |
Hellp Syndrome |
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Hemoglobinuria, Acute kidney injury, Proteinuria, Increased body weight |
ORPHA:244242 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Hyperactivity, Hypospadias, Obesity, Renal hypoplasia, Hypogonadism, Vesicoureteral reflux, Micro... |
OMIM:309580 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Bicuspid aortic valve, Muscular ventricular septal defect, Self-injurious behavior, Truncal obesi... |
OMIM:612474 |
Leukocyte Adhesion Deficiency |
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Hemolytic-uremic syndrome, Recurrent urinary tract infections, Glomerulonephritis, Hyperinsulinem... |
ORPHA:2968 |
Pallister-Killian Syndrome |
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Omphalocele, Renal dysplasia, Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital... |
OMIM:601803 |
Homozygous Familial Hypercholesterolemia |
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Hyperlipidemia, Renal steatosis, Increased LDL cholesterol concentration, Renal artery stenosis, ... |
ORPHA:391665 |
Thrombocytopenia 2 |
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OMIM:188000 |