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Namespace Prefixes

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dc	http://purl.org/dc/elements/1.1/
obo	http://www.geneontology.org/formats/oboInOwl#
rdf	http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl	http://www.w3.org/2002/07/owl#
xsdh	http://www.w3.org/2001/XMLSchema#

Statements

Subject Item

_:vb50938709

rdf:type

owl:Axiom

wdrs:describedby

n7:doid.owl

dc:type

n3:ECO_0007645 n3:ECO_0007638

owl:annotatedProperty

n3:IAO_0000115

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n3:DOID_0060357

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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.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pubmed/3430059 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/3792776