chylomicron retention disease (DOID:0060357)
Alliance: disease page
Synonyms: Anderson disease; CMRD
Alt IDs: OMIM:246700, ICD10CM:E78.3, MESH:C535460, ORDO:71, UMLS_CUI:C0795956
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.