Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased HDL cholesterol concentration, Hypocholesterolemia, Decreased circulating apolipoprotei... |
OMIM:620058 |
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 |
Pancreatic Lipase Deficiency |
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Steatorrhea, Hypocholesterolemia |
OMIM:614338 |
Atherosclerosis Susceptibility |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:108725 |
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 |
Hypoalphalipoproteinemia, Primary, 1 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration |
OMIM:604091 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Chylomicron Retention Disease |
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Steatorrhea, Hypotriglyceridemia, Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypoc... |
OMIM:246700 |
Fish-Eye Disease |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:136120 |
Glycogen Storage Disease Vi |
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Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia |
OMIM:232700 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypocholesterol... |
OMIM:616834 |
Hyperlipidemia, Familial Combined, 3 |
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Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Hypobetalipoproteinemia, Familial, 1 |
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Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Decreased LDL cholest... |
OMIM:615558 |
Hepatic Lipase Deficiency |
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Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Hypercholesterolemia |
OMIM:608320 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypocholesterolemia |
OMIM:610539 |
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, Hypercholesterolemia, Hyperlipidemia |
OMIM:615863 |
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 |
Peroxisome Biogenesis Disorder 3B |
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Elevated circulating phytanic acid concentration, Steatorrhea, Hypocholesterolemia |
OMIM:266510 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Steatorrhea, Conjugated hyperbilirubinemia, Hypocholesterolemia |
OMIM:607765 |
Potocki-Lupski Syndrome |
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Hypocholesterolemia |
OMIM:610883 |
Hyperlipidemia Due To Hepatic Triacylglycerol Lipase Deficiency |
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Hypertriglyceridemia, Increased HDL cholesterol concentration |
ORPHA:140905 |
Squalene Synthase Deficiency |
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Increased circulating farnesol concentration, Hypocholesterolemia, Decreased LDL cholesterol conc... |
OMIM:618156 |
Apolipoprotein C-Ii Deficiency |
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Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... |
OMIM:207750 |
Glycogen Storage Disease Ixa1 |
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Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia |
OMIM:306000 |
Chylomicron Retention Disease |
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Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
Analbuminemia |
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Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... |
OMIM:616000 |
Congenital Disorder Of Glycosylation, Type Il |
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Hypoalbuminemia, Hypocholesterolemia |
OMIM:608776 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hypocholesterolemia |
OMIM:618810 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated circulating creatine kinas... |
ORPHA:96180 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... |
OMIM:605814 |
Tangier Disease |
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Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:615812 |
Abetalipoproteinemia |
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Steatorrhea, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Hyperbilirubinemia, Ab... |
ORPHA:14 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hypoalbuminemia, Steatorrhea, Hypocholesterolemia |
OMIM:212065 |
Hyperlipoproteinemia, Type I |
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Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... |
OMIM:238600 |
Secondary Intestinal Lymphangiectasia |
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Decreased circulating prealbumin concentration, Secondary hyperaldosteronism, Reduced circulating... |
ORPHA:90363 |
Alg12-Cdg |
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Hyponatremia, Hypocholesterolemia, Hypoalbuminemia |
ORPHA:79324 |
Kaufman Oculocerebrofacial Syndrome |
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Hypocholesterolemia |
OMIM:244450 |
Dubowitz Syndrome |
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Hypocholesterolemia |
OMIM:223370 |
Smith-Lemli-Opitz Syndrome |
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Elevated circulating 7-dehydrocholesterol concentration, Hypoalbuminemia, Hypocholesterolemia |
OMIM:270400 |