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Metadata
ID DOID:0060357
Name chylomicron retention disease
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.
https://en.wikipedia.org/wiki/Chylomicron_retention_disease, https://www.ncbi.nlm.nih.gov/pubmed/10521380, https://www.ncbi.nlm.nih.gov/pubmed/20920215, https://www.ncbi.nlm.nih.gov/pubmed/3430059, https://www.ncbi.nlm.nih.gov/pubmed/3792776
Xrefs

GARD:9683

ICD10CM:E78.3

MESH:C535460

OMIM:246700

ORDO:71

SNOMEDCT_US_2020_09_01:702364003

UMLS_CUI:C0795956

Subsets

DO_rare_slim

Synonyms

Anderson disease [EXACT]

CMRD [EXACT]

Parent Relationships

is_a genetic disease

is_a lipid metabolism disorder

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