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Namespace Prefixes

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n3	http://purl.obolibrary.org/obo/
wdrs	http://www.w3.org/2007/05/powder-s#
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

_:vb50944167

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owl:Axiom

wdrs:describedby

n5:doid.owl

dc:type

n3:ECO_0007645

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n3:IAO_0000115

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n3:DOID_0111067

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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.

obo:hasDbXref

url:https://www.ncbi.nlm.nih.gov/pubmed/27647924 url:https://www.ncbi.nlm.nih.gov/pubmed/27884763