Term Name: | chylomicron retention disease |
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Synonyms: | Anderson disease, CMRD |
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. |
Ontology: | Human Disease [DOID:0060357] ( DOID:0060357 ) |