DOID:0060357 - chylomicron retention disease
Disease Ontology 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.
Synonyms: Anderson disease, CMRD
Xenbase Genes : sar1b
|MONDO:0009528 - chylomicron retention disease|
|OMIM:246700 - CHYLOMICRON RETENTION DISEASE; CMRD|
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee