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Namespace Prefixes

PrefixIRI
n6https://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#
n7http://purl.obolibrary.org/obo/doid#
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_0050674
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_1701 n2:DOID_0080015 _:vb50937369
rdfs:label
congenital bile acid synthesis defect
rdfs:comment
Xref MGI. OMIM mapping confirmed by DO. [SN].
wdrs:describedby
n6:doid.owl
obo:id
DOID:0050674
obo:hasDbXref
ICD10CM:K76.8
obo:hasExactSynonym
CBA 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency
obo:hasOBONamespace
disease_ontology
obo:inSubset
n7:DO_rare_slim
n2:IAO_0000115
A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver.
Subject Item
_:vb50937369
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004019
owl:someValuesFrom
n2:HP_0001197
wdrs:describedby
n6:doid.owl