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Summary Literature (0)
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 Disease Ontology (on Monarch Initiative):
MONDO:0009528 - chylomicron retention disease

OMIM:
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
Parent(s): genetic disease (is_a), lipid metabolism disorder (is_a)