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 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Hypercholesterolemia |
OMIM:608320 |
Glycogen Storage Disease Ixa1 |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:306000 |
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 |
Glycogen Storage Disease Vi |
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Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:232700 |
Hyperlipidemia, Familial Combined, 3 |
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Hyperlipidemia, Hypercholesterolemia, Elevated circulating apolipoprotein B concentration, Xanthe... |
OMIM:144250 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Hyperlipidemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610947 |
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 |
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 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypercholesterolemia, Elevated plasma citrulline, Hypermethioninemia, Hyperbilirubinemia, Hypertr... |
OMIM:605814 |
Morbid Obesity And Spermatogenic Failure |
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Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Hypercholesterolemia, Familial, 3 |
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Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
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 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Apolipoprotein C-Ii Deficiency |
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Increased circulating chylomicron concentration, Decreased circulating apolipoprotein C-II concen... |
OMIM:207750 |
Cholesteryl Ester Storage Disease |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Cognitive impairment, Hypercholesterolemia, Dementia, Mental deterioration, Hypoalbuminemia |
OMIM:208920 |
Congenital Disorder Of Glycosylation, Type Iio |
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Elevated circulating creatine kinase concentration, Hypercholesterolemia, Decreased circulating c... |
OMIM:616828 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
Morgagni-Stewart-Morel Syndrome |
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Suicidal ideation, Cognitive impairment, Memory impairment, Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Growth Hormone Insensitivity Syndrome |
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Hypercholesterolemia |
ORPHA:181393 |
Temple Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Citrullinemia Type Ii |
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Hypoproteinemia, Hyperlipidemia, Memory impairment, Hypercholesterolemia, Elevated plasma citrull... |
ORPHA:247585 |
Galactokinase Deficiency |
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Hypergalactosemia, Increased level of galactitol in plasma, Psychomotor deterioration, Hyperchole... |
ORPHA:79237 |
Smith-Magenis Syndrome |
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Head-banging, Self-mutilation, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Hyperlipoproteinemia, Type I |
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Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent serum, Hypercholester... |
OMIM:238600 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Hypercholesterolemia |
ORPHA:254531 |
Chylomicron Retention Disease |
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Decreased LDL cholesterol concentration, Hypotriglyceridemia, Hypoalbuminemia, Hypocholesterolemi... |
OMIM:246700 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypercholesterolemia |
OMIM:615812 |
Cog4-Cdg |
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Irritability, Hypercholesterolemia |
ORPHA:263501 |
Laron Syndrome |
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Hypercholesterolemia |
ORPHA:633 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglyceridemia, Hypercholesterol... |
ORPHA:567548 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Cognitive impairment, Progressive neurologic deterioration, Memory impairment, Hypercholesterolemia |
ORPHA:90065 |
Congenital Analbuminemia |
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Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin |
ORPHA:86816 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:209902 |
Nephrotic Syndrome, Type 11 |
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Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Elevated circulating creatine kinase concentration, Elevated alpha-fetoprotein, Hypoalbuminemia, ... |
ORPHA:64753 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hypergalactosemia, Elevated alpha-fetoprotein, Abnormal circulating serine concentration, Hyperly... |
ORPHA:247598 |
Sitosterolemia 1 |
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Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:210250 |
Dysbetalipoproteinemia |
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Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia, Increased LDL cholesterol concentration,... |
ORPHA:412 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Elevated alpha-fetoprotein, Hypercholesterolemia, Increased serum bile acid concentration, Conjug... |
OMIM:619662 |
Congenital Generalized Lipodystrophy |
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Increased C-peptide level, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:528 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Hypercholesterolemia |
ORPHA:96184 |
Lysosomal Acid Lipase Deficiency |
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Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LD... |
OMIM:278000 |
Smith-Magenis Syndrome |
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Self-injurious behavior, Anxiety, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:819 |
9Q31.1Q31.3 Microdeletion Syndrome |
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Hypercholesterolemia |
ORPHA:401923 |
Galloway-Mowat Syndrome 7 |
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Hypercholesterolemia |
OMIM:618348 |
Mandibuloacral Dysplasia |
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Increased circulating free fatty acid level, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:2457 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Megalocornea-Mental Retardation Syndrome |
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Hypercholesterolemia |
OMIM:249310 |
Megalocornea-Intellectual Disability Syndrome |
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Hypercholesterolemia |
ORPHA:2479 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:79240 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:370 |
Low Phospholipid-Associated Cholelithiasis |
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Hypercholesterolemia |
ORPHA:69663 |
Gaisböck Syndrome |
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Hypercholesterolemia, Increased circulating renin level, Anxiety, Hyperuricemia, Hypertriglycerid... |
ORPHA:90041 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:264580 |
Lysosomal Acid Lipase Deficiency |
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Cognitive impairment, Hyponatremia, Hypercholesterolemia, Psychomotor deterioration, Hyperkalemia... |
ORPHA:275761 |
Lysinuric Protein Intolerance |
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Increased circulating ferritin concentration, Cognitive impairment, Hypercholesterolemia, Hyperpr... |
ORPHA:470 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Hypercholesterolemia |
ORPHA:90674 |
Lipodystrophy, Familial Partial, Type 2 |
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Hypercholesterolemia, Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:151660 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Cognitive impairment, Hyperlipidemia, Hypercholesterolemia, Hyperuricemia, Xanthelasma, Hypertrig... |
ORPHA:79259 |
Bardet-Biedl Syndrome 20 |
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Hypercholesterolemia |
OMIM:619471 |
Immunodeficiency 47 |
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Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Lowe Oculocerebrorenal Syndrome |
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Hypercholesterolemia, Bicarbonaturia, Aggressive behavior, Elevated amniotic fluid alpha-fetoprot... |
OMIM:309000 |
Oculocerebrorenal Syndrome Of Lowe |
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Hypokalemia, Hyponatremia, Hypercholesterolemia, Hypoammonemia, Self-injurious behavior, Anxiety,... |
ORPHA:534 |
Steinert Myotonic Dystrophy |
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Cognitive impairment, Hypercholesterolemia, Anxiety, Mental deterioration, Aggressive behavior, E... |
ORPHA:273 |
Alagille Syndrome 1 |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Homozygous Familial Hypercholesterolemia |
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Hypercholesterolemia, Hyperlipidemia, Increased LDL cholesterol concentration |
ORPHA:391665 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:606721 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Increased circulating ferritin concentration, Elevated circulating creatinine concentration, Hype... |
OMIM:619534 |