This HTML5 document contains 24 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

Prefix	IRI
n6	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
rdfs	http://www.w3.org/2000/01/rdf-schema#
obo	http://www.geneontology.org/formats/oboInOwl#
n8	http://purl.obolibrary.org/obo/doid#
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

n2:DOID_0060357

rdf:type

owl:Class

rdfs:subClassOf

_:vb50938708 n2:DOID_3146

rdfs:label

chylomicron retention disease

wdrs:describedby

n6:doid.owl

obo:id

DOID:0060357

obo:created_by

elvira

obo:creation_date

2015-08-20T12:44:44Z

obo:hasDbXref

ICD10CM:E78.3 OMIM:246700 UMLS_CUI:C0795956 SNOMEDCT_US_2021_09_01:702364003 MESH:C535460 ORDO:71 GARD:9683

obo:hasExactSynonym

Anderson disease CMRD

obo:hasOBONamespace

disease_ontology

obo:inSubset

n8:DO_rare_slim

n2:IAO_0000115

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.

Subject Item

_:vb50938708

rdf:type

owl:Restriction

owl:onProperty

n2:RO_0004019

owl:someValuesFrom

n2:SO_0001537

wdrs:describedby

n6:doid.owl