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Chylomicron retention disease MeSH Supplementary Concept Data 2024


MeSH Supplementary
Chylomicron retention disease
Unique ID
C535460
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C535460
Entry Term(s)
Anderson Disease
Anderson Syndrome
Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein In Intestinal Cells
Lipid transport defect of intestine
Registry Number
0
Heading Mapped to
*Hypobetalipoproteinemias
*Malabsorption Syndromes
Frequency
25
Note
A hereditary autosomal recessive disorder characterized by severe fat malabsorption associated with failure to thrive in infancy due to hypobetalipoproteinemia with accumulation of apolipoprotein b-like protein in intestinal cells. Mutations in the SAR1B gene have been identified. OMIM: 246700
Date of Entry
2010/08/25
Revision Date
2015/11/10
Chylomicron retention disease Preferred
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