Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
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 |
Pentosuria |
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Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Cholesterol-Ester Transfer Protein Deficiency |
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Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Trypsinogen Deficiency |
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Hypoproteinemia |
OMIM:614044 |
Hypertriglyceridemia 2 |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Enterokinase Deficiency |
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Hypoproteinemia |
OMIM:226200 |
Chylomicron Retention Disease |
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Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia, H... |
OMIM:246700 |
Gastritis, Familial Giant Hypertrophic |
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Hypoproteinemia |
OMIM:137280 |
Xanthomatosis, Susceptibility To |
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Hypercholesterolemia |
OMIM:602247 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
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Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Immunodeficiency 43 |
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Hypoalbuminemia, Hypoproteinemia |
OMIM:241600 |
Sitosterolemia 2 |
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Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy |
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Hypoproteinemia |
OMIM:221400 |
Thyroid Hormone Metabolism, Abnormal, 2 |
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Hypercholesterolemia |
OMIM:619855 |
Hyperlipidemia, Familial Combined, 3 |
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Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
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Hypoalbuminemia, Hypoproteinemia |
OMIM:600351 |
Aplasia Cutis Congenita With Intestinal Lymphangiectasia |
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Hypoproteinemia |
OMIM:207731 |
Gaisböck Syndrome |
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Hyperproteinemia, Increased circulating renin level, Hypertriglyceridemia, Hyperuricemia, Hyperch... |
ORPHA:90041 |
Hemophagocytic Syndrome Associated With An Infection |
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Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperproteinemia |
ORPHA:158048 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Lymphangiectasia, Intestinal |
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Neonatal hypoproteinemia |
OMIM:152800 |
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
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Decreased LDL cholesterol concentration, Hypocholesterolemia, Decreased HDL cholesterol concentra... |
OMIM:616834 |
Multiple Myeloma |
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Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia |
ORPHA:29073 |
Hypercholesterolemia, Familial, 4 |
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Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
Congenital Analbuminemia |
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Hyperlipidemia, Hypoproteinemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia |
ORPHA:86816 |
Hypobetalipoproteinemia, Familial, 1 |
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Steatorrhea, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypocholesterolemia, ... |
OMIM:615558 |
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome |
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Hypoproteinemia |
ORPHA:1116 |
Nephrotic Syndrome, Type 1 |
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Hyperlipidemia, Hypoalbuminemia, Hypoproteinemia |
OMIM:256300 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
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Hypocholesterolemia |
OMIM:610539 |
Nephrotic Syndrome, Type 22 |
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Hypoproteinemia |
OMIM:619155 |
Pancreatic insufficiency, combined exocrine |
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Hypoproteinemia |
OMIM:260450 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
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Increased circulating ferritin concentration, Hypoproteinemia, Increased LDL cholesterol concentr... |
OMIM:267700 |
Diarrhea 7, Protein-Losing Enteropathy Type |
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Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Citrullinemia Type Ii |
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Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, H... |
ORPHA:247585 |
Erythrocyte Lactate Transporter Defect |
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Elevated circulating creatine kinase concentration |
OMIM:245340 |
Citrullinemia, Type Ii, Neonatal-Onset |
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Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemia, Hypertriglycerid... |
OMIM:605814 |
Refractory Celiac Disease |
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Hypomagnesemia, Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia |
ORPHA:398063 |
Ménétrier Disease |
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Hypoalbuminemia, Hypoproteinemia |
ORPHA:2494 |
Peroxisome Biogenesis Disorder 3B |
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Hypocholesterolemia, Steatorrhea |
OMIM:266510 |
Squalene Synthase Deficiency |
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Hypocholesterolemia, Increased circulating farnesol concentration, Decreased LDL cholesterol conc... |
OMIM:618156 |
Omenn Syndrome |
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Hypoproteinemia |
OMIM:603554 |
Congenital Disorder Of Glycosylation, Type Ij |
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Hypoproteinemia |
OMIM:608093 |
Hepatic Lipase Deficiency |
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Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Dengue Fever |
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Hypoproteinemia |
ORPHA:99828 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
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Hypoalbuminemia, Hypoproteinemia |
OMIM:226300 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Increased circulating ferritin concentration, Hypoproteinemia, Hypertriglyceridemia, Increased to... |
OMIM:603553 |
Bile Acid Synthesis Defect, Congenital, 1 |
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Hypocholesterolemia, Hyperbilirubinemia, Steatorrhea |
OMIM:607765 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Hypocalcemia, Hypoproteinemia, Hyperammonemia, Elevated circulating creatine kinase concentration... |
ORPHA:26793 |
Potocki-Lupski Syndrome |
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Hypocholesterolemia |
OMIM:610883 |
Leptospirosis |
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Hyperproteinemia |
ORPHA:509 |
Primary Intestinal Lymphangiectasia |
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Hypomagnesemia, Hypocalcemia, Hypoalbuminemia, Hypoproteinemia |
ORPHA:90362 |
Hypercholesterolemia, Familial, 3 |
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Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Chylomicron Retention Disease |
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Hypocholesterolemia, Steatorrhea |
ORPHA:71 |
Maternal Uniparental Disomy Of Chromosome 4 |
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Hypocholesterolemia, Decreased LDL cholesterol concentration, Abetalipoproteinemia, Elevated circ... |
ORPHA:96180 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
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Hypocalcemia, Hypoproteinemia |
OMIM:235255 |
Apolipoprotein C-Ii Deficiency |
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Hypertriglyceridemia, Increased circulating chylomicron concentration, Decreased circulating apol... |
OMIM:207750 |
Hypercholesterolemia, Familial, 2 |
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Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Johanson-Blizzard Syndrome |
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Hypoproteinemia |
ORPHA:2315 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Elevated circulating creatine kinase concentration, Hypoproteinemia |
OMIM:615895 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
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Hypocholesterolemia |
OMIM:618810 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
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Hypocalcemia, Hypoproteinemia |
ORPHA:1655 |
Abetalipoproteinemia |
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Abnormal circulating apolipoprotein concentration, Hyperbilirubinemia, Steatorrhea, Decreased HDL... |
ORPHA:14 |
Congenital Disorder Of Glycosylation, Type Ia |
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Hypocholesterolemia, Hypoalbuminemia, Steatorrhea |
OMIM:212065 |
Chédiak-Higashi Syndrome |
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Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoproteinemia, Hyponatremia |
ORPHA:167 |
Secondary Intestinal Lymphangiectasia |
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Reduced circulating transferrin concentration, Secondary hyperaldosteronism, Decreased prealbumin... |
ORPHA:90363 |
Alg12-Cdg |
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Hypocholesterolemia, Hypoalbuminemia, Hyponatremia |
ORPHA:79324 |
Kaufman Oculocerebrofacial Syndrome |
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Hypocholesterolemia |
OMIM:244450 |
Tangier Disease |
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Hypertriglyceridemia, Hypocholesterolemia |
ORPHA:31150 |
Dubowitz Syndrome |
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Hypocholesterolemia |
OMIM:223370 |
Liver Disease, Severe Congenital |
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Increased circulating ferritin concentration, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, ... |
OMIM:619991 |
Pierson Syndrome |
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Hypoproteinemia |
OMIM:609049 |
Smith-Lemli-Opitz Syndrome |
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Hypocholesterolemia, Elevated 7-dehydrocholesterol, Hypoalbuminemia |
OMIM:270400 |
Juvenile Polyposis Syndrome |
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Hypoproteinemia |
ORPHA:2929 |