Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Retinal Dysplasia, Primary |
|
Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hyperlipidemia, Hypercholesterolem... |
ORPHA:79506 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Failure to thrive in infancy, Hyperlipidemia, Hypercholesterolemia |
OMIM:232700 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Obesity, Hypercholesterolemia |
OMIM:608320 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:144300 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Elevated circulating apolipoprotein B concentration, In... |
OMIM:144250 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hypoalbuminemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:615863 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Analbuminemia |
|
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... |
OMIM:616000 |
Morbid Obesity And Spermatogenic Failure |
|
Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hyperc... |
OMIM:615703 |
Retinoschisis 1, X-Linked, Juvenile |
|
Retinal pigment epithelial atrophy, Vitreous hemorrhage, Retinal atrophy, Retinal degeneration, M... |
OMIM:312700 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Increased total bilirubin, Failure to thrive, Increased serum bile acid concentration, Hyperchole... |
OMIM:619868 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Apolipoprotein C-Ii Deficiency |
|
Lipemia retinalis, Decreased circulating apolipoprotein C-II concentration, Hypercholesterolemia,... |
OMIM:207750 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Hepatic Lipase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Increased LDL cholestero... |
OMIM:616828 |
Hypercholesterolemia, Familial, 3 |
|
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:603776 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Truncal obesity, Hypercholesterolemia |
ORPHA:181393 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Ataxia-Oculomotor Apraxia 4 |
|
Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Obesity, Hypercholesterolemia |
OMIM:616267 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:75234 |
Morgagni-Stewart-Morel Syndrome |
|
Hyperuricemia, Hyperostosis frontalis interna, Hypercholesterolemia, Obesity, Osteoporosis |
ORPHA:77296 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hypocalcemia, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:612526 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Hyperlysinemia, Hyperthreoninemia, Hypermethioninemia, Hyperbilirubinemia, Hypertyrosinemia, Fail... |
OMIM:605814 |
Congenital Analbuminemia |
|
Small for gestational age, Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholes... |
ORPHA:86816 |
Hyperlipoproteinemia, Type I |
|
Lipemia retinalis, Lactescent serum, Hyperlipidemia, Hypercholesterolemia, Increased circulating ... |
OMIM:238600 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Obesity, Hypercholesterolemia |
ORPHA:254531 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypercholesterolemia, Increased LDL cholesterol concentration, Truncal obesity, Hypertriglyceride... |
OMIM:615812 |
Temple Syndrome |
|
Small for gestational age, Obesity, Truncal obesity, Overweight, Hypercholesterolemia, Hypertrigl... |
OMIM:616222 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration, Elev... |
ORPHA:64753 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Galactokinase Deficiency |
|
Hypergalactosemia, Increased level of galactitol in plasma, Small for gestational age, Failure to... |
ORPHA:79237 |
Smith-Magenis Syndrome |
|
Retinal detachment, Increased body weight, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:182290 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hyperlysinemia, Abnormal circulating lipid concentration, Hyperthreoninemia, Hypergalactosemia, H... |
ORPHA:247598 |
Laron Syndrome |
|
Truncal obesity, Hypercholesterolemia |
ORPHA:633 |
Congenital Generalized Lipodystrophy |
|
Increased C-peptide level, Bone cyst, Failure to thrive, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:528 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterol... |
ORPHA:567548 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Obesity, Hypercholesterolemia |
ORPHA:209902 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Decreased body ma... |
ORPHA:247585 |
Cog4-Cdg |
|
Failure to thrive in infancy, Hypercholesterolemia |
ORPHA:263501 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Small for gestational age, Obesity, Truncal obesity, Hypercholesterolemia |
ORPHA:96184 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Hypercholesterolemia, Increased serum bile acid concentration, Conjugated hyperbilirubinemia, Ele... |
OMIM:619662 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia |
ORPHA:401923 |
Dysbetalipoproteinemia |
|
Hypercholesterolemia, Obesity, Increased LDL cholesterol concentration, Decreased HDL cholesterol... |
ORPHA:412 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia |
OMIM:277460 |
Smith-Magenis Syndrome |
|
Obesity, Hypercholesterolemia, Retinal detachment, Hypertriglyceridemia, Failure to thrive in inf... |
ORPHA:819 |
Mandibuloacral Dysplasia |
|
Increased circulating free fatty acid level, Acroosteolysis of distal phalanges (feet), Osteolyti... |
ORPHA:2457 |
Bardet-Biedl Syndrome 20 |
|
Rod-cone dystrophy, Retinal vascular tortuosity, Obesity, Hypercholesterolemia, Papilledema |
OMIM:619471 |
Lysosomal Acid Lipase Deficiency |
|
Steatorrhea, Failure to thrive, Increased LDL cholesterol concentration, Decreased HDL cholestero... |
OMIM:278000 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Hypercholesterolemia, Hypertriglyceridemia, O... |
ORPHA:79240 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated circulating creatine kinase concentration, Failure to thrive, Hypercholesterolemia, Hype... |
ORPHA:264580 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Hypercholesterolemia, Elevated circulating sitosterol concentration, X... |
OMIM:210250 |
Megalocornea-Mental Retardation Syndrome |
|
Osteopenia, Hypercholesterolemia |
OMIM:249310 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Hypercholesterolemia |
ORPHA:2479 |
Low Phospholipid-Associated Cholelithiasis |
|
Obesity, Overweight, Hypercholesterolemia |
ORPHA:69663 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Failure to thrive, Hypertriglyceridemia, Elevated circulating creatine kina... |
ORPHA:370 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hypercholesterolemia, Acroosteolysis of distal phalanges (feet), Calcinosis, Osteopenia, Hyperlip... |
OMIM:248370 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Hyperglycinemia, Intraalveolar phospholipid accumulation, Hyperglutaminemia, Ste... |
ORPHA:470 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Delayed proximal femoral epiphyseal ossification, Abnormal circulating thyroglobulin level, Failu... |
ORPHA:90674 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Gaisböck Syndrome |
|
Hyperuricemia, Increased circulating renin level, Obesity, Overweight, Hypercholesterolemia, Hype... |
ORPHA:90041 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Lysosomal Acid Lipase Deficiency |
|
Weight loss, Cachexia, Hyperkalemia, Steatorrhea, Failure to thrive, Xanthelasma, Hypercholestero... |
ORPHA:275761 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hyperuricemia, Failure to thrive, Xanthelasma, Osteopenia, Hyperlipidemia, Hypercholesterolemia, ... |
ORPHA:79259 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated maternal serum alpha-fetoprotein, Osteomalacia, Elevated circulating creatine kinase con... |
OMIM:309000 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:151660 |
Immunodeficiency 47 |
|
Failure to thrive, Decreased circulating copper concentration, Hypercholesterolemia |
OMIM:300972 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia |
ORPHA:363618 |
Alagille Syndrome 1 |
|
Failure to thrive, Chorioretinal atrophy, Hypercholesterolemia, Hypertriglyceridemia, Pigmentary ... |
OMIM:118450 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypercholesterolemia, Hyperaldosteronism, Osteomalacia, Hypophosphatemia, Hypokalemia, Failure to... |
ORPHA:534 |
Lipodystrophy, Familial Partial, Type 7 |
|
Small for gestational age, Failure to thrive, Hypercholesterolemia, Hypertriglyceridemia, Pigment... |
OMIM:606721 |
Homozygous Familial Hypercholesterolemia |
|
Optic neuropathy, Increased LDL cholesterol concentration, Hyperlipidemia, Hypercholesterolemia |
ORPHA:391665 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Hyperbilirubinemia, Failure to thrive, Increased circulating ferritin concentration, Osteopenia, ... |
OMIM:619534 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |