Maturity-Onset Diabetes Of The Young, Type 13 |
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Maternal diabetes, Maturity-onset diabetes of the young |
OMIM:616329 |
Maturity-Onset Diabetes Of The Young, Type 7 |
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Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:610508 |
Maturity-Onset Diabetes Of The Young, Type 4 |
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Maturity-onset diabetes of the young, Type II diabetes mellitus |
OMIM:606392 |
Maturity-Onset Diabetes Of The Young, Type 14 |
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Maturity-onset diabetes of the young, Diabetes mellitus |
OMIM:616511 |
Type 1 Diabetes Mellitus 2 |
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Type I diabetes mellitus, Diabetes mellitus |
OMIM:125852 |
Type 1 Diabetes Mellitus 15 |
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Type I diabetes mellitus, Diabetes mellitus |
OMIM:601666 |
Hypertriglyceridemia 2 |
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Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:619324 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipoproteinemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolem... |
ORPHA:79506 |
Diabetes Mellitus, Transient Neonatal, 2 |
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Transient neonatal diabetes mellitus, Type II diabetes mellitus |
OMIM:610374 |
Maturity-Onset Diabetes Of The Young, Type 2 |
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Maturity-onset diabetes of the young |
OMIM:125851 |
Maturity-Onset Diabetes Of The Young, Type 9 |
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Maturity-onset diabetes of the young |
OMIM:612225 |
Maturity-Onset Diabetes Of The Young, Type 6 |
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Maturity-onset diabetes of the young |
OMIM:606394 |
Type 1 Diabetes Mellitus 20 |
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Type I diabetes mellitus |
OMIM:612520 |
Type 1 Diabetes Mellitus 6 |
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Diabetes mellitus |
OMIM:601941 |
Type 1 Diabetes Mellitus 10 |
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Diabetes mellitus |
OMIM:601942 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Hyperlipidemia, Hypercholesterolemia, Diabetes mellitus, Hypertriglyceridemia, Glucose intoleranc... |
OMIM:610947 |
Glycogen Storage Disease Ixa1 |
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Hypoglycemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:306000 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Glycogen Storage Disease Vi |
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Hypoglycemia, Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Hypercholesterolemia |
OMIM:608320 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
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Increased VLDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:603813 |
Morbid Obesity And Spermatogenic Failure |
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Insulin resistance, Hypercholesterolemia, Hypertriglyceridemia, Increased LDL cholesterol concent... |
OMIM:615703 |
Wolfram-Like Syndrome, Autosomal Dominant |
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Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus |
OMIM:614296 |
Hyperlipidemia, Familial Combined, 3 |
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Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... |
OMIM:144250 |
Maturity-Onset Diabetes Of The Young, Type 3 |
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Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
Familial Cylindromatosis |
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Telangiectasia of the skin |
ORPHA:211 |
Maturity-Onset Diabetes Of The Young, Type 10 |
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Diabetic ketoacidosis, Maturity-onset diabetes of the young, Hyperglycemia, Diabetes mellitus |
OMIM:613370 |
Moyamoya Disease 1 |
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Telangiectasia, Inflammatory arteriopathy |
OMIM:252350 |
Capillary Malformation-Arteriovenous Malformation 2 |
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Telangiectasia |
OMIM:618196 |
Growth Hormone Insensitivity Syndrome |
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Hypoglycemia, Insulin resistance, Hypercholesterolemia, Diabetes mellitus, Type II diabetes mellitus |
ORPHA:181393 |
Insulinomatosis And Diabetes Mellitus |
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Glucose intolerance, Impaired glucose tolerance, Diabetes mellitus, Hyperinsulinemic hypoglycemia |
OMIM:147630 |
Congenital Disorder Of Glycosylation, Type Iip |
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Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Hyperlipoproteinemia, Type Iv |
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Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:144600 |
Hypertriglyceridemia 1 |
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Glucose intolerance, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:145750 |
Hepatic Lipase Deficiency |
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Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... |
OMIM:605814 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Insulin resistance, Hypercholesterolemia, Hypocalcemia, Diabetes mellitus, Hypertriglyceridemia |
OMIM:612526 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
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Hypercholesterolemia |
OMIM:301033 |
Telangiectasia, Hereditary Benign |
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Diffuse telangiectasia |
OMIM:187260 |
Familial Supernumerary Nipples |
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Supernumerary nipple |
ORPHA:2456 |
Hypercholesterolemia, Familial, 3 |
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Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Hyperlipoproteinemia, Type V |
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Increased circulating chylomicron concentration, Decreased HDL cholesterol concentration, Diabete... |
OMIM:144650 |
Hypercholesterolemia, Familial, 2 |
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Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Ataxia With Vitamin E Deficiency |
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Xanthelasma, Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:277460 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
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Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Analbuminemia |
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Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypoalbu... |
OMIM:616000 |
Distal Myopathy, Tateyama Type |
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Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Temple Syndrome |
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Maturity-onset diabetes of the young, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Telangiectasia, Hereditary Hemorrhagic, Type 5 |
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Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis |
OMIM:615506 |
Congenital Disorder Of Glycosylation, Type Iio |
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Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... |
OMIM:616828 |
Cholesteryl Ester Storage Disease |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Maturity-onset diabetes of the young, Hypercholesterolemia |
ORPHA:254531 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Glucose intolerance, Hyperglycemia |
OMIM:307500 |
Apolipoprotein C-Ii Deficiency |
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Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... |
OMIM:207750 |
Diabetes Mellitus, Permanent Neonatal, 1 |
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Reduced C-peptide level, Elevated hemoglobin A1c, Diabetes mellitus, Hyperglycemia, Type I diabet... |
OMIM:606176 |
Galactokinase Deficiency |
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Hypergalactosemia, Hypoglycemia, Hyperinsulinemia, Hypercholesterolemia, Increased level of galac... |
ORPHA:79237 |
Mandibuloacral Dysplasia |
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Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, ... |
ORPHA:2457 |
Morgagni-Stewart-Morel Syndrome |
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Hypercholesterolemia, Diabetes mellitus, Hyperuricemia |
ORPHA:77296 |
Laron Syndrome |
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Hypoglycemia, Hypercholesterolemia |
ORPHA:633 |
Congenital Generalized Lipodystrophy |
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Increased C-peptide level, Insulin resistance, Hyperinsulinemia, Hypercholesterolemia, Diabetes m... |
ORPHA:528 |
Dysbetalipoproteinemia |
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Hypercholesterolemia, Xanthelasma, Diabetes mellitus, Hypertriglyceridemia, Increased LDL cholest... |
ORPHA:412 |
Estrogen Resistance |
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Glucose intolerance, Impaired glucose tolerance, Hyperinsulinemia |
OMIM:615363 |
9Q31.1Q31.3 Microdeletion Syndrome |
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Type II diabetes mellitus, Hypercholesterolemia |
ORPHA:401923 |
Hyperlipoproteinemia, Type I |
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Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... |
OMIM:238600 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Maturity-onset diabetes of the young, Hypercholesterolemia |
ORPHA:96184 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
Smith-Magenis Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... |
ORPHA:567548 |
Lipodystrophy, Familial Partial, Type 2 |
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Hyperinsulinemia, Hypercholesterolemia, Insulin-resistant diabetes mellitus, Type II diabetes mel... |
OMIM:151660 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... |
ORPHA:247598 |
Citrullinemia Type Ii |
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Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Elevated plasma citrulline, Acute hyperamm... |
ORPHA:247585 |
Congenital Analbuminemia |
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Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin |
ORPHA:86816 |
Nephrotic Syndrome, Type 11 |
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Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:209902 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... |
ORPHA:64753 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Ketotic hypoglycemia, Fasting hypoglycemia, Hypercholesterolemia, Recurrent hypoglycemia, Elevate... |
ORPHA:79240 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypercholesterolemia |
OMIM:615812 |
Low Phospholipid-Associated Cholelithiasis |
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Diabetes mellitus, Hypercholesterolemia |
ORPHA:69663 |
Lysosomal Acid Lipase Deficiency |
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Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LD... |
OMIM:278000 |
Mody |
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Glycosuria, Neonatal hypoglycemia, Insulin-resistant diabetes mellitus, Elevated hemoglobin A1c, ... |
ORPHA:552 |
Sitosterolemia 1 |
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Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:210250 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Elevated alpha-fetoprotein, Hypercholesterolemia, Increased serum bile acid concentration, Conjug... |
OMIM:619662 |
Cog4-Cdg |
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Hypercholesterolemia |
ORPHA:263501 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Hyperglycemia, Hypercholesterolemia |
ORPHA:90065 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Fasting hypoglycemia, Hypoglycemia, Hypercholesterolemia, Elevated circulating creatine kinase co... |
ORPHA:264580 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Elevated circulating creatine kinase concentration, Fasting hypoglycemia, Hypertriglyceridemia, H... |
ORPHA:370 |
Smith-Magenis Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Galloway-Mowat Syndrome 7 |
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Hypercholesterolemia |
OMIM:618348 |
Megalocornea-Mental Retardation Syndrome |
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Hypercholesterolemia |
OMIM:249310 |
Gaisböck Syndrome |
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Hypercholesterolemia, Increased circulating renin level, Hyperuricemia, Diabetes mellitus, Hypert... |
ORPHA:90041 |
Megalocornea-Intellectual Disability Syndrome |
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Hypercholesterolemia |
ORPHA:2479 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Lysinuric Protein Intolerance |
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Increased circulating ferritin concentration, Hypercholesterolemia, Hyperprolinemia, Elevated pla... |
ORPHA:470 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Hypercholesterolemia |
ORPHA:90674 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hypoglycemic seizures, Hypoglycemia, Hyperlipidemia, Hypercholesterolemia, Hyperuricemia, Xanthel... |
ORPHA:79259 |
Lipodystrophy, Familial Partial, Type 7 |
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Insulin resistance, Hypercholesterolemia, Hypertriglyceridemia, Glucose intolerance, Impaired glu... |
OMIM:606721 |
Lysosomal Acid Lipase Deficiency |
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Hyponatremia, Hypercholesterolemia, Hyperkalemia, Xanthelasma, Hypertriglyceridemia, Steatorrhea |
ORPHA:275761 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Bardet-Biedl Syndrome 20 |
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Hypercholesterolemia |
OMIM:619471 |
Immunodeficiency 47 |
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Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypokalemia, Hyponatremia, Hypercholesterolemia, Hypoammonemia, Hyperaldosteronism, Hypophosphatemia |
ORPHA:534 |
Steinert Myotonic Dystrophy |
|
Insulin resistance, Diabetes mellitus, Hyperinsulinemia, Hypercholesterolemia |
ORPHA:273 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated maternal serum alpha-fetoprotein, Hypercholesterolemia, Elevated amniotic fluid alpha-fe... |
OMIM:309000 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Homozygous Familial Hypercholesterolemia |
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Hypercholesterolemia, Hyperlipidemia, Increased LDL cholesterol concentration |
ORPHA:391665 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... |
OMIM:619534 |