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Namespace Prefixes

PrefixIRI
n7https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/
n2http://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
n2:DOID_0111067
rdf:type
owl:Class
rdfs:subClassOf
_:vb50944165 _:vb50944166 n2:DOID_0050674
rdfs:label
congenital bile acid synthesis defect 6
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111067
obo:hasDbXref
OMIM:617308
obo:hasExactSynonym
CBAS6
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14.
Subject Item
_:vb50944165
rdf:type
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owl:onProperty
n2:RO_0004019
owl:someValuesFrom
n2:HP_0001197
wdrs:describedby
n7:doid.owl
Subject Item
_:vb50944166
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004019
owl:someValuesFrom
n2:SO_0001537
wdrs:describedby
n7:doid.owl