Hypertriglyceridemia 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... |
ORPHA:79506 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia |
OMIM:619855 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Hypercholesterolemia, Familial, 4 |
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Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Glycogen Storage Disease Vi |
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Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:232700 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Hypercholesterolemia |
OMIM:608320 |
Hyperlipidemia, Familial Combined, 3 |
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Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Congenital Disorder Of Glycosylation, Type Iip |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Hepatic Lipase Deficiency |
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Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
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Hypercholesterolemia |
OMIM:301033 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:615863 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... |
OMIM:620058 |
Morbid Obesity And Spermatogenic Failure |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia, Increased LD... |
OMIM:615703 |
Hypercholesterolemia, Familial, 3 |
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Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Hypercholesterolemia, Familial, 2 |
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Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... |
OMIM:619868 |
Analbuminemia |
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Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
Distal Myopathy, Tateyama Type |
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Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Hyperammonemia, Increased C-peptide level, Hypercholesterolemia |
OMIM:620211 |
Glycogen Storage Disease Ixa1 |
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Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia |
OMIM:306000 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
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Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Cholesteryl Ester Storage Disease |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Apolipoprotein C-Ii Deficiency |
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Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... |
OMIM:207750 |
Pancreatic Lipase Deficiency |
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Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hypertriglyceridemia, Hypercholesterolemia, Hypocalcemia |
OMIM:612526 |
Congenital Disorder Of Glycosylation, Type Iio |
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Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... |
OMIM:616828 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... |
OMIM:605814 |
Congenital Analbuminemia |
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Increased circulating antibody level, Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased... |
ORPHA:86816 |
Ataxia-Oculomotor Apraxia 4 |
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Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Hypercholesterolemia |
ORPHA:254531 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:615812 |
Chylomicron Retention Disease |
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Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... |
OMIM:246700 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Hyperlipoproteinemia, Type I |
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Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... |
OMIM:238600 |
Laron Syndrome |
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Hypercholesterolemia |
ORPHA:633 |
Galactokinase Deficiency |
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Increased level of galactitol in plasma, Hypergalactosemia, Hypercholesterolemia |
ORPHA:79237 |
Morgagni-Stewart-Morel Syndrome |
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Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Ataxia With Vitamin E Deficiency |
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Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Temple Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Cog4-Cdg |
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Hypercholesterolemia |
ORPHA:263501 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Nephrotic Syndrome, Type 11 |
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Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Sitosterolemia 1 |
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Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Impaired p... |
OMIM:210250 |
Smith-Magenis Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Citrullinemia Type Ii |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hypopr... |
ORPHA:247585 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... |
OMIM:619662 |
Dysbetalipoproteinemia |
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Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... |
ORPHA:412 |
9Q31.1Q31.3 Microdeletion Syndrome |
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Hypercholesterolemia |
ORPHA:401923 |
Cholesteryl Ester Storage Disease |
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Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... |
OMIM:278000 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Hypercholesterolemia |
ORPHA:96184 |
Congenital Generalized Lipodystrophy |
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Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia |
ORPHA:528 |
Mandibuloacral Dysplasia |
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Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
Galloway-Mowat Syndrome 7 |
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Hypercholesterolemia |
OMIM:618348 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Hypobetalipoproteinemia, Familial, 1 |
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Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... |
OMIM:615558 |
Smith-Magenis Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
Immunodeficiency 47 |
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Decreased circulating total IgG, Decreased circulating copper concentration, Chronic decreased ci... |
OMIM:300972 |
Congenital Disorder Of Glycosylation, Type Iiaa |
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Hyperammonemia, Hypercholesterolemia |
OMIM:620454 |
Primary Biliary Cholangitis |
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Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Increased circulating IgA lev... |
ORPHA:186 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Hypercholesterolemia |
ORPHA:90065 |
Lysinuric Protein Intolerance |
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Hypertriglyceridemia, Hyperglycinemia, Steatorrhea, Decreased HDL cholesterol concentration, Elev... |
ORPHA:470 |
Megalocornea-Intellectual Disability Syndrome |
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Hypercholesterolemia |
ORPHA:2479 |
Low Phospholipid-Associated Cholelithiasis |
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Hypercholesterolemia |
ORPHA:69663 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Neuhauser Syndrome |
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Hypercholesterolemia |
OMIM:249310 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hypertriglyceridemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Abnormal circulating thyroglobulin concentration, Hypercholesterolemia, Neonatal hyperbilirubinemia |
ORPHA:90674 |
Lipodystrophy, Familial Partial, Type 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Gaisböck Syndrome |
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Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... |
ORPHA:90041 |
Bardet-Biedl Syndrome 20 |
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Hypercholesterolemia |
OMIM:619471 |
Prader-Willi Syndrome |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:176270 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Lysosomal Acid Lipase Deficiency |
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Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Hyponatremia, Hypercholesterolemia |
ORPHA:275761 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Hypercholesterolemia |
ORPHA:79259 |
Oculocerebrorenal Syndrome Of Lowe |
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Hypokalemia, Hyponatremia, Hypophosphatemia, Hyperaldosteronism, Hypercholesterolemia, Hypoammonemia |
ORPHA:534 |
Alagille Syndrome 1 |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Lowe Oculocerebrorenal Syndrome |
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Bicarbonaturia, Elevated amniotic fluid alpha-fetoprotein, Hypercholesterolemia, Elevated circula... |
OMIM:309000 |
Lipodystrophy, Familial Partial, Type 7 |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Steinert Myotonic Dystrophy |
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Hypercholesterolemia |
ORPHA:273 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini... |
OMIM:619534 |