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

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Namespace Prefixes

PrefixIRI
n4https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n5http://purl.obolibrary.org/obo/
wdrshttp://www.w3.org/2007/05/powder-s#
rdfshttp://www.w3.org/2000/01/rdf-schema#
obohttp://www.geneontology.org/formats/oboInOwl#
rdfhttp://www.w3.org/1999/02/22-rdf-syntax-ns#
owlhttp://www.w3.org/2002/07/owl#
xsdhhttp://www.w3.org/2001/XMLSchema#

Statements

Subject Item
n5:DOID_0111066
rdf:type
owl:Class
rdfs:subClassOf
_:vb50944161 _:vb50944162 _:vb50944163 n5:DOID_0050674
rdfs:label
congenital bile acid synthesis defect 5
wdrs:describedby
n4:doid.owl
obo:id
DOID:0111066
obo:hasDbXref
OMIM:616278
obo:hasExactSynonym
CBAS5
obo:hasOBONamespace
disease_ontology
n5:IAO_0000115
A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21.
Subject Item
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n5:RO_0002452
owl:someValuesFrom
n5:SYMP_0000470
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Subject Item
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owl:onProperty
n5:RO_0004019
owl:someValuesFrom
n5:HP_0001197
wdrs:describedby
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Subject Item
_:vb50944163
rdf:type
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owl:onProperty
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owl:someValuesFrom
n5:SO_0001537
wdrs:describedby
n4:doid.owl