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bn:03418435n
Noun Concept
Categories: Inborn errors of metabolism, Skin conditions resulting from errors in metabolism
EN
sitosterolemia  Macrothrombocytopenia/Stomatocytosis, Mediterranean  phytosterolemia  Plant sterol storage disease  Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body
EN
Sitosterolemia is a rare autosomal recessively inherited lipid metabolic disorder. Wikipedia
Definitions
Relations
Sources
EN
Sitosterolemia is a rare autosomal recessively inherited lipid metabolic disorder. Wikipedia
Rare autosomal recessively inherited lipid metabolic disorder Wikidata
A rare inherited lipid metabolic disorder, characterized by hyperabsorption and decreased biliary excretion of dietary sterols leading to hypercholesterolemia, xanthomas, premature atherosclerosis, and abnormal hematologic and liver function test results. Wiktionary
IS A
rare disease
genetic disease
enteropathy
Inborn error of lipid metabolism
autosomal recessive disease
GENETIC ASSOCIATION
ABCG5
ABCG8
HEALTH SPECIALTY
endocrinology
Wikipedia
EN
sitosterolemia
Wikidata
EN
sitosterolemia
Wiktionary
EN
sitosterolemia
Wikipedia Redirections
EN
phytosterolemia
Wikidata Alias
EN
Macrothrombocytopenia/Stomatocytosis, Mediterranean, phytosterolemia, Plant sterol storage disease, Retention of dietary cholesterol and abnormal retention of non-cholesterol sterols in the body, SITOSTEROLEMIA, Stsl

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