| 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://www.ncbi.nlm.nih.gov/pubmed/20920215, https://www.ncbi.nlm.nih.gov/pubmed/3792776, https://www.ncbi.nlm.nih.gov/pubmed/3430059, https://www.ncbi.nlm.nih.gov/pubmed/10521380, https://en.wikipedia.org/wiki/Chylomicron_retention_disease |
| Xrefs |
SNOMEDCT_US_2023_03_01:702364003 |
| Subsets |
DO_rare_slim |
| Synonyms |
Anderson disease [EXACT] CMRD [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
disease has basis in some structural_variant |