| D006952 |
Hyperlipoproteinemia Type III |
An autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). IDL has a CHOLESTEROL to TRIGLYCERIDES ratio greater than that of VERY-LOW-DENSITY LIPOPROTEINS. This disorder is due to mutation of APOLIPOPROTEINS E, a receptor-binding component of VLDL and CHYLOMICRONS, resulting in their reduced clearance and high plasma levels of both cholesterol and triglycerides. |
Autosomal Recessive Hypercholesterolemia,Broad Beta Disease,Dysbetalipoproteinemia,Dysbetalipoproteinemia, Familial,Familial Dysbetalipoproteinemia,Familial Hypercholesterolemia with Hyperlipemia,Hypercholesterolemia, Autosomal Recessive,Hyperlipoproteinemia, Broad-beta,Hyperlipoproteinemia, Type III,Autosomal Recessive Hypercholesterolemias,Broad-beta Hyperlipoproteinemia,Hyperlipoproteinemia, Broad beta,Hyperlipoproteinemias, Type III,Recessive Hypercholesterolemia, Autosomal,Type III Hyperlipoproteinemia,Type III Hyperlipoproteinemias |
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| D008297 |
Male |
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Males |
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| D008875 |
Middle Aged |
An adult aged 45 - 64 years. |
Middle Age |
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| D005838 |
Genotype |
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS. |
Genogroup,Genogroups,Genotypes |
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| D006801 |
Humans |
Members of the species Homo sapiens. |
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man |
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| D001057 |
Apolipoproteins E |
A class of protein components which can be found in several lipoproteins including HIGH-DENSITY LIPOPROTEINS; VERY-LOW-DENSITY LIPOPROTEINS; and CHYLOMICRONS. Synthesized in most organs, Apo E is important in the global transport of lipids and cholesterol throughout the body. Apo E is also a ligand for LDL receptors (RECEPTORS, LDL) that mediates the binding, internalization, and catabolism of lipoprotein particles in cells. There are several allelic isoforms (such as E2, E3, and E4). Deficiency or defects in Apo E are causes of HYPERLIPOPROTEINEMIA TYPE III. |
Apo-E,Apo E,Apo E Isoproteins,ApoE,Apolipoprotein E Isoproteins,Apoprotein (E),Apoproteins E,Isoproteins, Apo E,Isoproteins, Apolipoprotein E |
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| D016031 |
Liver Transplantation |
The transference of a part of or an entire liver from one human or animal to another. |
Grafting, Liver,Hepatic Transplantation,Liver Transplant,Transplantation, Hepatic,Transplantation, Liver,Hepatic Transplantations,Liver Grafting,Liver Transplantations,Liver Transplants,Transplant, Liver |
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