Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Hyperlipoproteinemia, Hypercholesterolemia, Hypotriglyceridemia, Increased HDL ch... |
ORPHA:79506 |
Hypertriglyceridemia 2 |
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Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Pentosuria |
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Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Sitosterolemia 2 |
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Hypercholesterolemia, Elevated circulating sitosterol concentration |
OMIM:618666 |
Retinal Dysplasia, Primary |
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Falciform retinal fold, Retinal dysplasia |
OMIM:312550 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Hypercholesterolemia |
OMIM:608320 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
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Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia |
OMIM:607250 |
Glycogen Storage Disease Ixa1 |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:306000 |
Glycogen Storage Disease Vi |
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Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:232700 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
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Hypercholesterolemia, Attention deficit hyperactivity disorder |
OMIM:301033 |
Hyperlipidemia, Familial Combined, 3 |
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Hyperlipidemia, Increased LDL cholesterol concentration, Increased VLDL cholesterol concentration... |
OMIM:144250 |
Congenital Disorder Of Glycosylation, Type Iip |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Hypercholesterolemia, Familial, 4 |
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Hypercholesterolemia, Increased VLDL cholesterol concentration, Hypertriglyceridemia |
OMIM:603813 |
Coronary Artery Disease, Autosomal Dominant 2 |
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Hypercholesterolemia, Hypertriglyceridemia, Hyperlipidemia |
OMIM:610947 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Hypercholesterolemia, Ataxia, Steppage gait, Hypoalbuminemia |
ORPHA:94124 |
Morbid Obesity And Spermatogenic Failure |
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Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypercholestero... |
OMIM:615703 |
Distal Myopathy, Tateyama Type |
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Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Analbuminemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Elevated circulating transferrin c... |
OMIM:616000 |
Ataxia With Vitamin E Deficiency |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Xanthelasma, Ataxia, Hypertriglyce... |
OMIM:277460 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Decreased HDL cholesterol concentration, Hyperbilirubinemia, Hypercholesterolemia, Hypertriglycer... |
OMIM:605814 |
Lipodystrophy, Familial Partial, Type 7 |
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Dysmetria, Hypercholesterolemia, Hypertriglyceridemia, Pigmentary retinopathy, Gait ataxia |
OMIM:606721 |
Retinoschisis 1, X-Linked, Juvenile |
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Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... |
OMIM:312700 |
Apolipoprotein C-Ii Deficiency |
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Lipemia retinalis, Hypercholesterolemia, Hypertriglyceridemia, Decreased circulating apolipoprote... |
OMIM:207750 |
Congenital Disorder Of Glycosylation, Type Iio |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Hepatic Lipase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Hypobetalipoproteinemia, Familial, 1 |
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Decreased LDL cholesterol concentration, Ataxia, Retinal degeneration, Rod-cone dystrophy |
OMIM:615558 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Dystonia, Hypercholesterolemia, Ataxia, Truncal ataxia, Hypoalbuminemia, Limb ataxia, Gait ataxia |
OMIM:208920 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Dystonia, Gait imbalance, Elevated circulating creatine kinase concentration, Hypercholesterolemi... |
ORPHA:64753 |
Hypercholesterolemia, Familial, 3 |
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Hypercholesterolemia, Xanthelasma, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Hypercholesterolemia, Familial, 2 |
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Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Cholesteryl Ester Storage Disease |
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Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Temple Syndrome |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Growth Hormone Insensitivity Syndrome |
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Hypercholesterolemia |
ORPHA:181393 |
Smith-Magenis Syndrome |
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Hypercholesterolemia, Hyperactivity, Retinal detachment, Hypertriglyceridemia |
OMIM:182290 |
Aceruloplasminemia |
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Aceruloplasminemia, Retinal degeneration, Torticollis, Decreased serum iron, Increased circulatin... |
OMIM:604290 |
Citrullinemia Type Ii |
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Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia, A... |
ORPHA:247585 |
Hyperlipoproteinemia, Type I |
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Hyperlipidemia, Lipemia retinalis, Lactescent serum, Hypercholesterolemia, Increased circulating ... |
OMIM:238600 |
Chylomicron Retention Disease |
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Hypocholesterolemia, Hypotriglyceridemia, Steatorrhea, Hypoalbuminemia, Decreased LDL cholesterol... |
OMIM:246700 |
Abetalipoproteinemia |
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Abetalipoproteinemia, Ataxia, Retinal degeneration, Retinopathy |
OMIM:200100 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Hypercholesterolemia |
ORPHA:254531 |
Congenital Analbuminemia |
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Hypoproteinemia, Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia, Increased alpha-globulin |
ORPHA:86816 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
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Abnormal circulating lipid concentration, Hypercholesterolemia, Hypertriglyceridemia, Hypoalbumin... |
ORPHA:567548 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Abnormal circulating glutamine concentration, Abnormal circulating serine concentration, Abnormal... |
ORPHA:247598 |
Nephrotic Syndrome, Type 11 |
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Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Laron Syndrome |
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Hypercholesterolemia |
ORPHA:633 |
Cog4-Cdg |
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Hypercholesterolemia, Ataxia |
ORPHA:263501 |
Smith-Magenis Syndrome |
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Gait disturbance, Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia, Attention defic... |
ORPHA:819 |
Morgagni-Stewart-Morel Syndrome |
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Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Galactokinase Deficiency |
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Hypercholesterolemia, Hypergalactosemia, Increased level of galactitol in plasma |
ORPHA:79237 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Hypercholesterolemia, Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum ... |
OMIM:619662 |
Congenital Generalized Lipodystrophy |
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Hypercholesterolemia, Increased C-peptide level, Hypertriglyceridemia |
ORPHA:528 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Sitosterolemia 1 |
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Hypercholesterolemia, Elevated circulating sitosterol concentration, Hyperapobetalipoproteinemia |
OMIM:210250 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Neonatal hyperbilirubinemia, Abnormal circulating thyroglobulin level, Hypercholesterolemia, Atte... |
ORPHA:90674 |
Lysosomal Acid Lipase Deficiency |
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Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... |
OMIM:278000 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
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Hypercholesterolemia |
ORPHA:96184 |
Dysbetalipoproteinemia |
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Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Hypercholestero... |
ORPHA:412 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypercholesterolemia |
OMIM:615812 |
Megalocornea-Mental Retardation Syndrome |
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Hypercholesterolemia, Ataxia |
OMIM:249310 |
9Q31.1Q31.3 Microdeletion Syndrome |
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Hypercholesterolemia |
ORPHA:401923 |
Megalocornea-Intellectual Disability Syndrome |
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Hypercholesterolemia, Ataxia |
ORPHA:2479 |
Bardet-Biedl Syndrome 20 |
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Hypercholesterolemia, Papilledema, Retinal vascular tortuosity, Rod-cone dystrophy |
OMIM:619471 |
Mandibuloacral Dysplasia |
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Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:79240 |
Galloway-Mowat Syndrome 7 |
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Hypercholesterolemia |
OMIM:618348 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:370 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:264580 |
Lysinuric Protein Intolerance |
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Lethargy, Abnormal circulating serine concentration, Decreased HDL cholesterol concentration, Inc... |
ORPHA:470 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Hypercholesterolemia |
ORPHA:90065 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Gaisböck Syndrome |
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Hyperproteinemia, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Increased circulatin... |
ORPHA:90041 |
Low Phospholipid-Associated Cholelithiasis |
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Hypercholesterolemia |
ORPHA:69663 |
Lipodystrophy, Familial Partial, Type 2 |
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Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:151660 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
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Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Lysosomal Acid Lipase Deficiency |
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Hyperkalemia, Hyponatremia, Hypercholesterolemia, Xanthelasma, Steatorrhea, Hypertriglyceridemia |
ORPHA:275761 |
Oculocerebrorenal Syndrome Of Lowe |
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Hyponatremia, Hypokalemia, Chorioretinal dysplasia, Hypophosphatemia, Hypercholesterolemia, Hyper... |
ORPHA:534 |
Alagille Syndrome 1 |
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Hypercholesterolemia, Hypertriglyceridemia, Chorioretinal atrophy, Pigmentary retinopathy |
OMIM:118450 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
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Hyperlipidemia, Hyperuricemia, Hypercholesterolemia, Xanthelasma, Hypertriglyceridemia |
ORPHA:79259 |
Immunodeficiency 47 |
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Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
Lowe Oculocerebrorenal Syndrome |
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Hypercholesterolemia, Elevated maternal serum alpha-fetoprotein, Elevated amniotic fluid alpha-fe... |
OMIM:309000 |
Steinert Myotonic Dystrophy |
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Hypercholesterolemia, Gait disturbance, Inability to walk, Falls |
ORPHA:273 |
Homozygous Familial Hypercholesterolemia |
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Increased LDL cholesterol concentration, Optic neuropathy, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Elevated circulating creatinine concentration, Hyperbilirubinemia, Hypercholesterolemia, Increase... |
OMIM:619534 |