Hypertriglyceridemia 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
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 |
Cholesterol-Ester Transfer Protein Deficiency |
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Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
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Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Glycogen Storage Disease Vi |
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Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
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Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia |
OMIM:607250 |
Hyperlipidemia, Familial Combined, 3 |
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Hypercholesterolemia, Increased VLDL cholesterol concentration, Elevated circulating apolipoprote... |
OMIM:144250 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Hypercholesterolemia |
OMIM:608320 |
Congenital Disorder Of Glycosylation, Type Iip |
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Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
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Hypercholesterolemia |
OMIM:301033 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Hypoalbuminemia, Steppage gait, Ataxia, Hypercholesterolemia |
ORPHA:94124 |
Morbid Obesity And Spermatogenic Failure |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:615703 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Hepatic Lipase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL choles... |
OMIM:620058 |
Hypercholesterolemia, Familial, 3 |
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Hypercholesterolemia, Abnormal LDL cholesterol concentration, Xanthelasma |
OMIM:603776 |
Hypercholesterolemia, Familial, 2 |
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Hypercholesterolemia, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:144010 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Increased total bilirubin, Increased serum bile acid concentration, Hypercholesterolemia, Conjuga... |
OMIM:619868 |
Analbuminemia |
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Increased LDL cholesterol concentration, Hypoalbuminemia, Elevated circulating transferrin concen... |
OMIM:616000 |
Ataxia With Vitamin E Deficiency |
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Hypercholesterolemia, Dysdiadochokinesis, Gait disturbance, Ataxia, Dysmetria, Increased LDL chol... |
OMIM:277460 |
Distal Myopathy, Tateyama Type |
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Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Glycogen Storage Disease Ixa1 |
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Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Gait ataxia, Truncal ataxia, Limb ataxia, Ataxia, Elevated circulating creatine kinase concentrat... |
OMIM:208920 |
Cholesteryl Ester Storage Disease |
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Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Ataxia-Oculomotor Apraxia 4 |
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Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Ataxia, Hypercholesterolemia |
OMIM:616267 |
Congenital Disorder Of Glycosylation, Type Iio |
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Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... |
OMIM:616828 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Gait imbalance, Choreoathetosis, Ataxia, Elevated circulating alpha-fetoprotein concentration, El... |
ORPHA:64753 |
Apolipoprotein C-Ii Deficiency |
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Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... |
OMIM:207750 |
Growth Hormone Insensitivity Syndrome |
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Hypercholesterolemia |
ORPHA:181393 |
Morgagni-Stewart-Morel Syndrome |
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Depression, Hyperuricemia, Suicidal ideation, Hypercholesterolemia |
ORPHA:77296 |
Cog4-Cdg |
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Irritability, Ataxia, Hypercholesterolemia |
ORPHA:263501 |
Citrullinemia Type Ii |
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Aggressive behavior, Irritability, Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholester... |
ORPHA:247585 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Decr... |
OMIM:605814 |
Smith-Magenis Syndrome |
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Hypertriglyceridemia, Head-banging, Self-mutilation, Hypercholesterolemia |
OMIM:182290 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Hypercholesterolemia |
ORPHA:254531 |
Hyperlipoproteinemia, Type I |
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Hypercholesterolemia, Increased circulating chylomicron concentration, Hyperlipidemia, Lactescent... |
OMIM:238600 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:615812 |
Laron Syndrome |
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Hypercholesterolemia |
ORPHA:633 |
Temple Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:616222 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Smith-Magenis Syndrome |
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Hypercholesterolemia, Self-injurious behavior, Gait disturbance, Anxiety, Hypertriglyceridemia |
ORPHA:819 |
Galactokinase Deficiency |
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Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia |
ORPHA:79237 |
Congenital Analbuminemia |
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Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia |
ORPHA:86816 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... |
ORPHA:247598 |
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 |
Hypobetalipoproteinemia, Familial, 1 |
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Decreased LDL cholesterol concentration, Steatorrhea, Ataxia, Decreased HDL cholesterol concentra... |
OMIM:615558 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... |
OMIM:619662 |
Dysbetalipoproteinemia |
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Hypercholesterolemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... |
ORPHA:412 |
Lysosomal Acid Lipase Deficiency |
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Steatorrhea, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hy... |
OMIM:278000 |
9Q31.1Q31.3 Microdeletion Syndrome |
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Hypercholesterolemia |
ORPHA:401923 |
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 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Depression, Hypercholester... |
ORPHA:90674 |
Megalocornea-Mental Retardation Syndrome |
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Ataxia, Hypercholesterolemia |
OMIM:249310 |
Mandibuloacral Dysplasia |
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Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia |
ORPHA:2457 |
Sitosterolemia 1 |
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Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... |
OMIM:210250 |
Megalocornea-Intellectual Disability Syndrome |
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Ataxia, Hypercholesterolemia |
ORPHA:2479 |
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 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Hypercholesterolemia |
ORPHA:90065 |
Gaisböck Syndrome |
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Hyperuricemia, Anxiety, Increased circulating renin level, Hypercholesterolemia, Hyperproteinemia... |
ORPHA:90041 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:370 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Lysinuric Protein Intolerance |
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Hyperalaninemia, Hyperglycinemia, Hyperglutaminemia, Steatorrhea, Increased LDL cholesterol conce... |
ORPHA:470 |
Low Phospholipid-Associated Cholelithiasis |
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Hypercholesterolemia |
ORPHA:69663 |
Lipodystrophy, Familial Partial, Type 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Calcinosis, Hyperlipidemia, Hypercholesterolemia |
OMIM:248370 |
Steinert Myotonic Dystrophy |
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Aggressive behavior, Falls, Inability to walk, Anxiety, Gait disturbance, Emotional lability, Dep... |
ORPHA:273 |
Lysosomal Acid Lipase Deficiency |
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Hypercholesterolemia, Hyperkalemia, Steatorrhea, Xanthelasma, Hyponatremia, Hypertriglyceridemia |
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 |
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Hyperaldosteronism, Hyponatremia, Anxiety, Self-injurious behavior, Hypophosphatemia, Hypokalemia... |
ORPHA:534 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hyperuricemia, Xanthelasma, Hyperlipidemia, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79259 |
Lowe Oculocerebrorenal Syndrome |
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Elevated maternal serum alpha-fetoprotein, Aggressive behavior, Elevated amniotic fluid alpha-fet... |
OMIM:309000 |
Lipodystrophy, Familial Partial, Type 7 |
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Gait ataxia, Dysdiadochokinesis, Dysmetria, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
Alagille Syndrome 1 |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:118450 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Hyperbilirubinemia, Increased circulating ferritin concentration, Hypercholesterolemia, Elevated ... |
OMIM:619534 |