FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term chylomicron retention disease ID (Ontology) DOID:0060357 (Human Disease)
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.
Also Known As "Anderson disease" ; "CMRD"
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 Genes
 chylomicron retention disease       1
 for disease ribbon | chylomicron retention disease       1
 model of | chylomicron retention disease       1
Spanning Tree (Parents/Children)
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  inherited metabolic disorder
   |__lipid metabolism disorder
       |__chylomicron retention disease  1 rec.
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Is a lipid metabolism disorder
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Synonyms
  • "Anderson disease" EXACT
    "CMRD" EXACT OMO:0003012
Secondary IDs
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GARD:9683
ICD10CM:E78.3
MESH:C535460
MIM:246700
ORDO:71
SNOMEDCT_US_2023_03_01:702364003
UMLS_CUI:C0795956