Hypertriglyceridemia 2 |
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Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Glycine N-Methyltransferase Deficiency |
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Elevated hepatic transaminase, Hepatomegaly, Hypermethioninemia |
OMIM:606664 |
Iron Overload, Susceptibility To |
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Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... |
OMIM:620121 |
Congenital Disorder Of Glycosylation, Type Icc |
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Hepatomegaly |
OMIM:301031 |
Hemochromatosis, Type 5 |
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Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... |
OMIM:615517 |
Genetic Hyperferritinemia Without Iron Overload |
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Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... |
ORPHA:254704 |
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 |
Cholestasis, Progressive Familial Intrahepatic, 11 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... |
OMIM:619874 |
Gracile Syndrome |
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Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... |
ORPHA:53693 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
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Increased serum iron, Elevated hepatic iron concentration |
OMIM:206100 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
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Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:616860 |
Hypercholesterolemia, Familial, 4 |
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Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration |
OMIM:603813 |
Dietary Iron Overload Disease |
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Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... |
ORPHA:139507 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
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Hepatomegaly, Splenomegaly, Elevated transferrin saturation, Increased circulating ferritin conce... |
OMIM:615234 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:144300 |
Fatty Liver Disease, Susceptibility To, 2 |
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Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
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Hepatic steatosis |
OMIM:613282 |
Polycystic Liver Disease 2 With Or Without Kidney Cysts |
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Hepatomegaly, Hepatic cysts |
OMIM:617004 |
Hyperlipidemia, Familial Combined, 3 |
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Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
Glycogen Storage Disease Vi |
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Hypercholesterolemia, Hyperlipidemia, Hypertriglyceridemia |
OMIM:232700 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
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Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Hypertriglyceridemia, Transient Infantile |
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Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... |
OMIM:614480 |
Coronary Artery Disease, Autosomal Dominant, 1 |
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Hypercholesterolemia |
OMIM:608320 |
Tyrosinemia Type 1 |
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Acute hepatic failure, Hepatomegaly, Hepatocellular carcinoma, Splenomegaly |
ORPHA:882 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
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Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ... |
ORPHA:300298 |
Portal Hypertension, Noncirrhotic, 1 |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:617068 |
Beta-Thalassemia Intermedia |
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Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o... |
ORPHA:231222 |
Hepatic Lipase Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration |
OMIM:614025 |
Porphyria Cutanea Tarda |
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Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep... |
ORPHA:101330 |
Bile Acid Synthesis Defect, Congenital, 5 |
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Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... |
OMIM:616278 |
Hypercholesterolemia, Familial, 3 |
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Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Idiopathic Copper-Associated Cirrhosis |
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Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... |
ORPHA:209919 |
Congenital Disorder Of Glycosylation, Type Iip |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616829 |
Hemochromatosis, Type 2B |
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Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... |
OMIM:613313 |
Glycosylphosphatidylinositol Biosynthesis Defect 1 |
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Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly |
OMIM:610293 |
Hemoglobin H Disease |
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Splenomegaly, Hepatomegaly |
OMIM:613978 |
Persistent Polyclonal B-Cell Lymphocytosis |
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Splenomegaly, Hepatomegaly |
OMIM:606445 |
Hypercholesterolemia, Familial, 2 |
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Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia |
OMIM:144010 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Morbid Obesity And Spermatogenic Failure |
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Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Aceruloplasminemia |
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Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... |
ORPHA:48818 |
Biliary Atresia, Extrahepatic |
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Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... |
OMIM:210500 |
Bile Acid Conjugation Defect 1 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... |
OMIM:619232 |
Alpha-1-Antitrypsin Deficiency |
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Hepatomegaly, Jaundice, Hepatic failure, Hepatitis |
ORPHA:60 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Hyperbilirubinemia, Shunt, Primary |
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Splenomegaly, Hepatomegaly, Jaundice, Hyperbilirubinemia |
OMIM:237800 |
Combined Oxidative Phosphorylation Deficiency 14 |
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Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra... |
OMIM:614946 |
Cholestasis-Lymphedema Syndrome |
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Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... |
OMIM:214900 |
Cholestasis, Benign Recurrent Intrahepatic, 1 |
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Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Int... |
OMIM:243300 |
Pancreatic Lipase Deficiency |
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Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
Cholestasis, Progressive Familial Intrahepatic, 9 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... |
OMIM:619849 |
Analbuminemia |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
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Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho... |
OMIM:619868 |
Nephronophthisis 19 |
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Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... |
OMIM:616217 |
Cholestasis, Progressive Familial Intrahepatic, 3 |
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Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis, Jaundice, Splenomegaly, Po... |
OMIM:602347 |
Cholestasis, Benign Recurrent Intrahepatic, 2 |
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Hepatomegaly, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Cholelithiasis |
OMIM:605479 |
Pediatric Hepatocellular Carcinoma |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal vein thrombosis, Hepat... |
ORPHA:33402 |
Glycogen Storage Disease Ixa1 |
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Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia |
OMIM:306000 |
Apolipoprotein C-Ii Deficiency |
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Hypercholesterolemia, Hypertriglyceridemia, Increased circulating chylomicron concentration, Decr... |
OMIM:207750 |
Distal Myopathy, Tateyama Type |
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Hypercholesterolemia, Abnormal circulating creatine kinase concentration |
ORPHA:488650 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
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Hypercholesterolemia, Hyperammonemia, Increased C-peptide level |
OMIM:620211 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... |
OMIM:619662 |
Sclerosing Cholangitis, Neonatal |
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Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... |
OMIM:617394 |
Hyperzincemia With Functional Zinc Depletion |
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Hepatomegaly, Increased serum zinc |
OMIM:601979 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
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Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Cholesteryl Ester Storage Disease |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:75234 |
Liver Disease, Severe Congenital |
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Cardiomegaly, Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic ... |
OMIM:619991 |
Congenital Disorder Of Glycosylation, Type Iio |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... |
OMIM:616828 |
Lipodystrophy, Congenital Generalized, Type 3 |
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Hypercholesterolemia, Hypertriglyceridemia, Hypocalcemia |
OMIM:612526 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
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Hepatomegaly, Microvesicular hepatic steatosis, Cirrhosis, Elevated hepatic iron concentration |
OMIM:300868 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... |
OMIM:605814 |
Ataxia-Oculomotor Apraxia 4 |
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Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration |
OMIM:616267 |
Hyperlipoproteinemia, Type I |
|
Hypercholesterolemia, Hyperlipidemia, Lactescent serum, Increased circulating chylomicron concent... |
OMIM:238600 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
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Hypercholesterolemia |
ORPHA:254531 |
Abdominal Obesity-Metabolic Syndrome 3 |
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Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
OMIM:615812 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:208920 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati... |
ORPHA:247598 |
Temple Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:616222 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid... |
ORPHA:567548 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:182290 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Laron Syndrome |
|
Hypercholesterolemia |
ORPHA:633 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
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Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevat... |
ORPHA:64753 |
Ataxia With Vitamin E Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma |
OMIM:277460 |
Morgagni-Stewart-Morel Syndrome |
|
Hypercholesterolemia, Hyperuricemia |
ORPHA:77296 |
Citrullinemia Type Ii |
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Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... |
ORPHA:247585 |
Galactokinase Deficiency |
|
Increased level of galactitol in plasma, Hypercholesterolemia, Hypergalactosemia |
ORPHA:79237 |
Cog4-Cdg |
|
Hypercholesterolemia |
ORPHA:263501 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:616730 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:209902 |
Dysbetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
ORPHA:412 |
Cholesteryl Ester Storage Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... |
OMIM:278000 |
Congenital Generalized Lipodystrophy |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased C-peptide level |
ORPHA:528 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Hypercholesterolemia |
ORPHA:96184 |
Smith-Magenis Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:819 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Hypercholesterolemia |
ORPHA:401923 |
Sitosterolemia 1 |
|
Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Xanthelasma, Hypercho... |
OMIM:210250 |
Mandibuloacral Dysplasia |
|
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level |
ORPHA:2457 |
Galloway-Mowat Syndrome 7 |
|
Hypercholesterolemia |
OMIM:618348 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:610644 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Hypercholesterolemia |
ORPHA:90065 |
Neuhauser Syndrome |
|
Hypercholesterolemia |
OMIM:249310 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:79240 |
Megalocornea-Intellectual Disability Syndrome |
|
Hypercholesterolemia |
ORPHA:2479 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Hypercholesterolemia, Hypertriglyceridemia, Elevated circulating creatine kinase concentration |
ORPHA:264580 |
Lysinuric Protein Intolerance |
|
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... |
ORPHA:470 |
Low Phospholipid-Associated Cholelithiasis |
|
Hypercholesterolemia |
ORPHA:69663 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia |
ORPHA:90674 |
Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterolemia |
OMIM:151660 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hypercholesterolemia, Hyperlipidemia |
OMIM:248370 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Lysosomal Acid Lipase Deficiency |
|
Hyponatremia, Hypertriglyceridemia, Hyperkalemia, Xanthelasma, Steatorrhea, Hypercholesterolemia |
ORPHA:275761 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypercholesterolemia, Hypertriglyceridemia |
ORPHA:363618 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hypertriglyceridemia, Hyperlipidemia, Xanthelasma, Hyperuricemia, Hypercholesterolemia |
ORPHA:79259 |
Immunodeficiency 47 |
|
Hypercholesterolemia, Decreased circulating copper concentration |
OMIM:300972 |
Bardet-Biedl Syndrome 20 |
|
Hypercholesterolemia |
OMIM:619471 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Hypoammonemia, Hypokalemia, Hyperaldosteronism, Hypophosphatemia, Hypercholesterolemia |
ORPHA:534 |
Alagille Syndrome 1 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:118450 |
Lowe Oculocerebrorenal Syndrome |
|
Elevated circulating creatine kinase concentration, Elevated maternal serum alpha-fetoprotein, Bi... |
OMIM:309000 |
Steinert Myotonic Dystrophy |
|
Hypercholesterolemia |
ORPHA:273 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia |
OMIM:606721 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating... |
OMIM:619534 |
Homozygous Familial Hypercholesterolemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hyperlipidemia |
ORPHA:391665 |