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Term:chylomicron retention disease
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Accession:DOID:0060357 term browser browse the term
Definition:A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. (DO)
Synonyms:exact_synonym: ANDD;   Anderson Disease;   Anderson Syndrome;   CMRD;   Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein In Intestinal Cells;   Lipid transport defect of intestine
 primary_id: MESH:C535460;   RDO:0000584
 alt_id: OMIM:246700
 xref: GARD:9683;   ORDO:71
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chylomicron retention disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Pitpna phosphatidylinositol transfer protein, alpha JBrowse link 10 63,731,767 63,772,049 RGD:13592920
G Sar1b secretion associated, Ras related GTPase 1B JBrowse link 10 37,215,989 37,245,603 RGD:7240710

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Path 1
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  disease 15489
    syndrome 5228
      Malabsorption Syndromes 114
        chylomicron retention disease 2
Path 2
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  disease 0
    Developmental Diseases 8822
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7612
        genetic disease 7095
          inherited metabolic disorder 1887
            lipid metabolism disorder 744
              Dyslipidemias 282
                hypolipoproteinemia 14
                  hypobetalipoproteinemia 9
                    chylomicron retention disease 2
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