Maturity-Onset Diabetes Of The Young, Type 11 |
|
Overweight, Obesity, Maturity-onset diabetes of the young |
OMIM:613375 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia, Diabetes mellitus, Obesity |
OMIM:608320 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia, Elevated circulating rT3/T3 ratio, Elevated circulating reverse T3 concentr... |
OMIM:619855 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Elevated circulating thyroid-stimulating hormone concentration, Abnormal circulating insulin conc... |
ORPHA:171706 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:256450 |
Obesity |
|
Increased waist to hip ratio, Obesity |
OMIM:601665 |
Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Increased LDL cholesterol... |
OMIM:615703 |
Glycogen Storage Disease Vi |
|
Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia, Failure to thrive in infancy |
OMIM:232700 |
Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Hyperinsulinemia... |
ORPHA:71526 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity |
OMIM:615988 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Large for gestational age |
OMIM:601820 |
Spermatogenic Failure, X-Linked, 1 |
|
Obesity |
OMIM:305700 |
Triglyceride Storage Disease, Type Ii |
|
Obesity |
OMIM:190430 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Decreased circulating free T4 concentration, Hypercholesterolemia, Inappropriately normal thyroid... |
OMIM:301033 |
Adiposis Dolorosa |
|
Obesity, Painful subcutaneous lipomas |
OMIM:103200 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Lipodystrophy, Diabetes mellitus, Gene... |
OMIM:612526 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Truncal obesity, Hypoinsulinemia, Obesity, Large for gestational age |
OMIM:240900 |
Hypothyroidism, Central, With Testicular Enlargement |
|
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... |
OMIM:300888 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Hypogonadotropic Hypogonadism 27 Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... |
OMIM:619755 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome |
|
Obesity |
ORPHA:1078 |
Bardet-Biedl Syndrome 14 |
|
Obesity |
OMIM:615991 |
Analbuminemia |
|
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... |
OMIM:616000 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity, Tall stature |
OMIM:618406 |
Bardet-Biedl Syndrome 13 |
|
Obesity |
OMIM:615990 |
Bardet-Biedl Syndrome 10 |
|
Hypogonadism, Obesity |
OMIM:615987 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia |
OMIM:615863 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital ... |
OMIM:614450 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Hyperlipidemia, Hyperinsulinemia, Obesity |
ORPHA:329249 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Overgrowth, Obesity |
OMIM:620195 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Small for gestational age, Diabetes mellitus, Elevat... |
OMIM:274300 |
Temple Syndrome |
|
Hypertriglyceridemia, Small for gestational age, Maturity-onset diabetes of the young, Overweight... |
OMIM:616222 |
Simpson-Golabi-Behmel Syndrome, Type 2 |
|
Inguinal hernia, Obesity |
OMIM:300209 |
Intellectual Developmental Disorder, X-Linked 97 |
|
Obesity |
OMIM:300803 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased serum leptin |
OMIM:617885 |
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Hernia of the abdominal wall, Obesity |
ORPHA:3055 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Hyperammonemia,... |
OMIM:620211 |
Congenital Analbuminemia |
|
Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo... |
ORPHA:86816 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Cortisone Reductase Deficiency 2 |
|
Obesity, Premature pubarche |
OMIM:614662 |
Hernández-Aguirre Negrete Syndrome |
|
Obesity, Delayed puberty |
ORPHA:2139 |
Lipodystrophy, Familial Partial, Type 6 |
|
Diabetes mellitus, Lipodystrophy, Elevated circulating creatine kinase concentration, Hyperlipide... |
OMIM:615980 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Congenital hypothyroidism |
ORPHA:88643 |
Hypercholesterolemia, Familial, 4 |
|
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Truncal obesity, Large for gestational age, Abnormal circulating insulin concentration, Increased... |
ORPHA:293964 |
Summitt Syndrome |
|
Obesity |
OMIM:272350 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Dorsocervical fat pad, Adrenal hyperplasia, Increased body weight, Increased c... |
OMIM:615830 |
Autism, Susceptibility To, X-Linked 6 |
|
Obesity |
OMIM:300872 |
Pseudohypoparathyroidism, Type Ib |
|
Pseudohypoparathyroidism, Obesity, Hyperphosphatemia, Elevated circulating parathyroid hormone le... |
OMIM:603233 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Precocious puberty, Hypercholesterolemia, Obesity, Maturity-onset diabetes of the young |
ORPHA:254531 |
Congenital Generalized Lipodystrophy |
|
Hypertriglyceridemia, Lipodystrophy, Precocious puberty in females, Diabetes mellitus, Adipose ti... |
ORPHA:528 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Decreased HDL cholesterol concentration, Reduced su... |
OMIM:151660 |
Microduplication Xp11.22P11.23 Syndrome |
|
Precocious puberty, Obesity |
ORPHA:217377 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Blue Diaper Syndrome |
|
Hypercalcemia, Elevated circulating thyroid-stimulating hormone concentration, Increased body wei... |
ORPHA:94086 |
Morgagni-Stewart-Morel Syndrome |
|
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Obesity... |
ORPHA:77296 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Bardet-Biedl Syndrome 22 |
|
Hypogonadism, Obesity, Large for gestational age |
OMIM:617119 |
Abdominal Obesity-Metabolic Syndrome 4 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Obesity, ... |
OMIM:618620 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypo... |
ORPHA:276608 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Small for gestational age, Maternal diabetes, Large for gestational age, Maturity-onset diabetes ... |
ORPHA:324575 |
Hepatic Veno-Occlusive Disease |
|
Increased body weight, Increased total bilirubin |
ORPHA:890 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Large for gestational age, Hyperinsulinemia, Decreased circulating free fatty acid level, Type I ... |
ORPHA:276575 |
Biemond Syndrome Type 2 |
|
Hypogonadism, Hypogonadotropic hypogonadism, Obesity, Delayed puberty |
ORPHA:141333 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... |
ORPHA:79644 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
Galactokinase Deficiency |
|
Small for gestational age, Hypergonadotropic hypogonadism, Hyperinsulinemia, Increased level of g... |
ORPHA:79237 |
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 |
Laron Syndrome |
|
Abnormality of the endocrine system, Hypercholesterolemia, Truncal obesity, Delayed puberty |
ORPHA:633 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypercholesterolemia, Hypoalbuminemia, Obesity, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Ankylosing Vertebral Hyperostosis With Tylosis |
|
Obesity |
ORPHA:2206 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Maternal diabetes, Large for gestational age, Hyperinsulinemia, Type I diabetes mellitus, Hyperin... |
ORPHA:276580 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol secretion... |
ORPHA:189427 |
Cortisone Reductase Deficiency 1 |
|
Precocious puberty, Obesity |
OMIM:604931 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypoinsulinemia, Hypogonadotropic hypogonadism, Obesity |
OMIM:600955 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Hypogonadism, Obesity |
OMIM:615981 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... |
OMIM:609734 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Goiter, Elevated circulating thyroid-sti... |
ORPHA:99832 |
Distal Myopathy, Tateyama Type |
|
Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Pseudohypoparathyroidism, Type Ic |
|
Elevated circulating thyroid-stimulating hormone concentration, Obesity, Pseudohypoparathyroidism... |
OMIM:612462 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia, Adrenal calcification |
ORPHA:75234 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Umbilical hernia, Inguinal hernia, Overgrowth, Large for gestational age |
OMIM:618272 |
Bardet-Biedl Syndrome 8 |
|
Hypogonadism, Obesity |
OMIM:615985 |
Leptin Receptor Deficiency |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
OMIM:614963 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Diabetes mellitus, Obesity, Increa... |
ORPHA:412 |
Insulinoma |
|
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... |
ORPHA:97279 |
Smith-Magenis Syndrome |
|
Abnormality of the thyroid gland, Hypercholesterolemia, Hypertriglyceridemia, Increased body weight |
OMIM:182290 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Thyroid hypoplasia, Goiter, Pituitary hypothyroidism... |
ORPHA:90674 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia, Type II diabetes mellitus |
ORPHA:401923 |
Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Subaortic Stenosis-Short Stature Syndrome |
|
Type II diabetes mellitus, Inguinal hernia, Abnormal circulating lipid concentration, Obesity |
ORPHA:3191 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Congen... |
ORPHA:226313 |
Pseudopseudohypoparathyroidism |
|
Abnormality of the endocrine system, Obesity, Hyperphosphatemia, Elevated circulating parathyroid... |
ORPHA:79445 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Failure to thrive, Hypertriglyceridemi... |
OMIM:605814 |
Pseudopseudohypoparathyroidism |
|
Enamel hypoplasia, Obesity, Pseudohypoparathyroidism |
OMIM:612463 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Small for gestational age, Large for gestational age, Overgrowth, Umbilical hernia |
ORPHA:254534 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Eunuchoid habitus, Abnormality of the thyroid gland, Obesity, Hypogonadism, Type II diabetes mell... |
ORPHA:2234 |
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Obesity, Absence of pubertal development |
OMIM:610628 |
Glycogen Storage Disease Ixa1 |
|
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Large for gestational age, Abnormal circulating fatty-acid concentration, Hyperinsulinemia, Incre... |
ORPHA:263455 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Li... |
OMIM:248370 |
Polycystic Ovary Syndrome 1 |
|
Obesity |
OMIM:184700 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Increased body weight |
ORPHA:589905 |
Low Phospholipid-Associated Cholelithiasis |
|
Overweight, Hypercholesterolemia, Diabetes mellitus, Obesity |
ORPHA:69663 |
Pseudohypoparathyroidism, Type Ia |
|
Obesity, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid hormone le... |
OMIM:103580 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Obesity |
ORPHA:209902 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Cog4-Cdg |
|
Hypercholesterolemia, Failure to thrive in infancy |
ORPHA:263501 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Precocious puberty, Obesity, Delayed puberty,... |
ORPHA:819 |
Obesity-Hypoventilation Syndrome |
|
Obesity |
OMIM:257500 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating fatty-acid concentration, Abnormal circulating l... |
ORPHA:2298 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Adrenal calcification, Increased L... |
OMIM:278000 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Perrault Syndrome 4 |
|
Increased circulating gonadotropin level, Obesity, Disproportionate tall stature, Hypoplasia of t... |
OMIM:615300 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Narcolepsy 7 |
|
Type II diabetes mellitus, Obesity |
OMIM:614250 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
Bardet-Biedl Syndrome 6 |
|
Diabetes mellitus, Obesity |
OMIM:605231 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Apolipoprotein C-Ii Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Increased body weight, ... |
ORPHA:264580 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Diabetes mellitus, Overweight, Obesity, Hyperproteinemia, Increased circula... |
ORPHA:90041 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... |
ORPHA:226307 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Increased body weight |
OMIM:300860 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Large for gestational age, Diabetes mellitus, Hypouricemia, Hypophosphatemia |
OMIM:616026 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Premature pubarche, Precocious puberty, Flexion contracture, Increased body weight, Absence of pu... |
ORPHA:398069 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Increased body weight, Hypertriglyceridemia, Elevated circulating creatine ... |
ORPHA:79240 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Dorsocervical fat pad, Paradoxical increas... |
ORPHA:96253 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:606721 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Wilson Disease |
|
Failure to thrive, Increased body weight, Weight loss |
ORPHA:905 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia, Male hypogonadism, Obesity |
OMIM:619471 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Increased body weight |
ORPHA:64745 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia, Lipoatrophy, Pulmonary carcinoid tumor |
ORPHA:363618 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... |
OMIM:619662 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Adrenal calcification, Cachexia, Hyperkalemia, Primary adrena... |
ORPHA:275761 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia, Hypopituitarism, Hypothyroidism |
ORPHA:90065 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... |
ORPHA:99889 |
Aromatase Deficiency |
|
Eunuchoid habitus, Hypergonadotropic hypogonadism, Hyperlipidemia, Obesity, Type II diabetes mell... |
ORPHA:91 |
Neuhauser Syndrome |
|
Hypercholesterolemia, Primary hypothyroidism |
OMIM:249310 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia, Hypothyroidism |
ORPHA:2479 |
Sotos Syndrome |
|
Overgrowth, Increased body weight, Tall stature |
OMIM:117550 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Inguinal hernia, Hyperparathyroidism, Hypoammonemia, Abnormal dental enamel morphol... |
ORPHA:534 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Thyroiditis, Xanthelasma, Hyperuricemia, Delayed puberty, H... |
ORPHA:79259 |
Lowe Oculocerebrorenal Syndrome |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Elevated maternal serum al... |
OMIM:309000 |
Carney Complex |
|
Euthyroid multinodular goiter, Dorsocervical fat pad, Follicular thyroid carcinoma, Elevated circ... |
ORPHA:1359 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Failure to thrive, Decreased circulating copper concentration |
OMIM:300972 |
Steinert Myotonic Dystrophy |
|
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... |
ORPHA:273 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Papillary thyroid carcinoma |
OMIM:118450 |
Hellp Syndrome |
|
Increased body weight |
ORPHA:244242 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Inguinal hernia, Anterior pituitary hypoplasia, Conjugated hyperbilirubinemia, Increased circulat... |
OMIM:619534 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |