Muscle Cramps, Familial |
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Elevated circulating creatine kinase concentration |
OMIM:158400 |
Cramps, Familial Adolescent |
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Elevated circulating creatine kinase concentration |
OMIM:218050 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
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Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hypotriglyceridemia, Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemi... |
ORPHA:79506 |
Pentosuria |
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Abnormal circulating carbohydrate concentration, Abnormal circulating enzyme concentration |
ORPHA:2843 |
Hypertriglyceridemia 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Glycogen Storage Disease Vi |
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Hypertriglyceridemia, Failure to thrive in infancy, Hypercholesterolemia, Hyperlipidemia |
OMIM:232700 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia |
OMIM:619855 |
Analbuminemia |
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Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Osteopor... |
OMIM:616000 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Obesity, Hypercholesterolemia |
OMIM:608320 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
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Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Morbid Obesity And Spermatogenic Failure |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... |
OMIM:615703 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hypoalbuminemia, Failure to thrive, Hypercholesterolemia, Hyperlipidemia |
OMIM:615863 |
Hyperlipidemia, Familial Combined, 3 |
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Xanthelasma, Increased LDL cholesterol concentration, Hyperlipidemia, Increased VLDL cholesterol ... |
OMIM:144250 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hypertriglyceridemia, Generalized lipodystrophy, Hypocalcemia, Reduced subcutaneous adipose tissu... |
OMIM:612526 |
Congenital Disorder Of Glycosylation, Type Iip |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Increased serum bile acid concentration, Increased total bilirubin, Failure to thrive, Conjugated... |
OMIM:619868 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
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Hypercholesterolemia |
OMIM:301033 |
Hepatic Lipase Deficiency |
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Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Mandibuloacral Dysplasia |
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Lipoatrophy, Hypertriglyceridemia, Hypercholesterolemia, Loss of subcutaneous adipose tissue in l... |
ORPHA:2457 |
Distal Myopathy, Tateyama Type |
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Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Hyperammonemia, Increased C-peptide level, Hypercholesterolemia |
OMIM:620211 |
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 |
Morgagni-Stewart-Morel Syndrome |
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Hyperuricemia, Hyperostosis frontalis interna, Osteoporosis, Obesity, Hypercholesterolemia |
ORPHA:77296 |
Hypercholesterolemia, Familial, 3 |
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Xanthelasma, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Glycogen Storage Disease Ixa1 |
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Hypertriglyceridemia, Hypercholesterolemia, Hyperuricemia |
OMIM:306000 |
Lipodystrophy, Familial Partial, Type 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased intramuscular fat, Hyper... |
OMIM:151660 |
Congenital Disorder Of Glycosylation, Type Iio |
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Elevated circulating creatine kinase concentration, Increased LDL cholesterol concentration, Hype... |
OMIM:616828 |
Congenital Analbuminemia |
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Hypoproteinemia, Hyperlipidemia, Obesity, Lipodystrophy, Hypoalbuminemia, Increased alpha-globuli... |
ORPHA:86816 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Increa... |
OMIM:605814 |
Congenital Generalized Lipodystrophy |
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Hypertriglyceridemia, Bone cyst, Failure to thrive, Increased C-peptide level, Adipose tissue los... |
ORPHA:528 |
Temple Syndrome |
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Hypertriglyceridemia, Hypercholesterolemia, Obesity, Flexion contracture, Overweight, Truncal obe... |
OMIM:616222 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Obesity, Hypercholesterolemia |
ORPHA:254531 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
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Osteopenia, Calcinosis, Hypercholesterolemia, Loss of subcutaneous adipose tissue in limbs, Incre... |
OMIM:248370 |
Ataxia-Oculomotor Apraxia 4 |
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Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Galactokinase Deficiency |
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Increased level of galactitol in plasma, Hypergalactosemia, Failure to thrive, Hypercholesterolem... |
ORPHA:79237 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... |
ORPHA:247598 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Hypertriglyceridemia, Truncal obesity, Increased LDL cholesterol concentration, Abdominal obesity... |
OMIM:615812 |
Apolipoprotein C-Ii Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolem... |
OMIM:207750 |
Laron Syndrome |
|
Hypercholesterolemia, Truncal obesity |
ORPHA:633 |
Smith-Magenis Syndrome |
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Hypertriglyceridemia, Increased body weight, Hypercholesterolemia |
OMIM:182290 |
Cog4-Cdg |
|
Failure to thrive in infancy, Hypercholesterolemia |
ORPHA:263501 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Elevate... |
ORPHA:247585 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Obesity, Hypercholesterolemia, Truncal obesity, Small for gestational age |
ORPHA:96184 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Obesity, Hypercholesterolemia, Increased LDL cholesterol concentration |
ORPHA:209902 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Increased LDL cholest... |
OMIM:278000 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Dysbetalipoproteinemia |
|
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Increased LDL cholest... |
ORPHA:412 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Failure to thrive in infancy, Obesity, Hypercholesterolemia |
ORPHA:819 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia |
ORPHA:401923 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Ataxia With Vitamin E Deficiency |
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Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Increased body weight, Elevated circulating creatine kinase concentration, ... |
ORPHA:79240 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Increased serum bile ... |
OMIM:619662 |
Hyperlipoproteinemia, Type I |
|
Lactescent serum, Hypercholesterolemia, Hyperlipidemia, Increased circulating chylomicron concent... |
OMIM:238600 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypertriglyceridemia, Increased body weight, Elevated circulating creatine kinase concentration, ... |
ORPHA:264580 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Abnormal circulating thyroglobulin concentration, Failure to thrive, Delayed proximal femoral epi... |
ORPHA:90674 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Hypercholesterolemia |
ORPHA:2479 |
Lysinuric Protein Intolerance |
|
Osteopenia, Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Elevated ... |
ORPHA:470 |
Prader-Willi Syndrome |
|
Osteopenia, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Osteoporosis, Obesity,... |
OMIM:176270 |
Neuhauser Syndrome |
|
Osteopenia, Hypercholesterolemia |
OMIM:249310 |
Sitosterolemia 1 |
|
Xanthelasma, Elevated circulating sitosterol concentration, Reduced haptoglobin level, Hyperapobe... |
OMIM:210250 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Low Phospholipid-Associated Cholelithiasis |
|
Obesity, Overweight, Hypercholesterolemia |
ORPHA:69663 |
Congenital Disorder Of Glycosylation, Type Iiaa |
|
Hyperammonemia, Hypercholesterolemia, Knee flexion contracture |
OMIM:620454 |
Primary Biliary Cholangitis |
|
Abnormal circulating lipid concentration, Xanthelasma, Steatorrhea, Osteoporosis, Conjugated hype... |
ORPHA:186 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypertriglyceridemia, Decreased adipose tissue around neck, Loss of subcutaneous adipose tissue i... |
OMIM:606721 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Obesity, Hyperproteinemia... |
ORPHA:90041 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Hypertriglyceridemia, Xanthelasma, Hyperuricemia, Hyperlipidemia, Osteoporosis, Failu... |
ORPHA:79259 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Lysosomal Acid Lipase Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Steatorrhea, Hyperkalemia, Cachexia, Failure to thrive, Hypona... |
ORPHA:275761 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Lipoatrophy, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Lowe Oculocerebrorenal Syndrome |
|
Rickets, Bicarbonaturia, Corneal scarring, Elevated circulating creatine kinase concentration, Fa... |
OMIM:309000 |
Oculocerebrorenal Syndrome Of Lowe |
|
Inguinal hernia, Hypokalemia, Abnormal dental enamel morphology, Failure to thrive, Hyponatremia,... |
ORPHA:534 |
Bardet-Biedl Syndrome 20 |
|
Obesity, Hypercholesterolemia |
OMIM:619471 |
Immunodeficiency 47 |
|
Failure to thrive, Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
Alagille Syndrome 1 |
|
Hypertriglyceridemia, Failure to thrive, Hypercholesterolemia |
OMIM:118450 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Inguinal hernia, Hyperbilirubinemia, Failure to thrive, Conjugated hyperbilirubinemia... |
OMIM:619534 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |