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chylomicron retention disease

Go to external page http://purl.obolibrary.org/obo/DOID_0060357

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. [ url:https://www.ncbi.nlm.nih.gov/pubmed/3792776 url:https://en.wikipedia.org/wiki/Chylomicron_retention_disease url:https://www.ncbi.nlm.nih.gov/pubmed/10521380 url:https://www.ncbi.nlm.nih.gov/pubmed/20920215 url:https://www.ncbi.nlm.nih.gov/pubmed/3430059 http://purl.obolibrary.org/obo/ECO_0007638 http://purl.obolibrary.org/obo/ECO_0007645 ]

Synonyms: CMRD Anderson disease

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C535460
  • ICD10CM:E78.3
  • GARD:9683
  • UMLS_CUI:C0795956
  • ORDO:71
  • MIM:246700
  • SNOMEDCT_US_2023_03_01:702364003
Subsets

DO_rare_slim

acronym
CMRD

created by

elvira

creation date

2015-08-20T12:44:44Z

has obo namespace

disease_ontology

id

DOID:0060357