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DO Term : chylomicron retention disease [DOID:0060357] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • ICD10CM:E78.3,
  • SNOMEDCT_US_2023_03_01:702364003,
  • MESH:C535460,
  • UMLS_CUI:C0795956,
  • 246700,
  • OMIM:246700,
  • GARD:9683,
  • CMRD,
  • Anderson disease,
  • ORDO:71
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