OBO ID: DOID:0060357
Term Name: chylomicron retention disease Search Ontology:
Synonyms:
  • Anderson disease
  • CMRD
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. (5)
References:
Ontology: Human Disease   ( DOID:0060357 )
Relationships
is a type of:
OTHER chylomicron retention disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
SAR1B Chylomicron retention disease 246700
ZEBRAFISH MODELS
Fish Conditions Citations
AB + MO1-sar1b control Levic et al., 2015
PHENOTYPE No data available

CITATIONS (1)
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