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Disease Ontology Browser
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.

Disease References using Mouse Models (2)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory