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