This HTML5 document contains 23 embedded RDF statements represented using HTML+Microdata notation.

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Namespace Prefixes

PrefixIRI
n5https://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_0111069
rdf:type
owl:Class
rdfs:subClassOf
_:vb50944172 n2:DOID_0050674 _:vb50944171
rdfs:label
congenital bile acid synthesis defect 2
wdrs:describedby
n5:doid.owl
obo:id
DOID:0111069
obo:hasDbXref
MESH:C535443 OMIM:235555 ORDO:79303 UMLS_CUI:C1856127
obo:hasExactSynonym
CBAS2 cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33.
Subject Item
_:vb50944171
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004019
owl:someValuesFrom
n2:HP_0001197
wdrs:describedby
n5:doid.owl
Subject Item
_:vb50944172
rdf:type
owl:Restriction
owl:onProperty
n2:RO_0004019
owl:someValuesFrom
n2:SO_0001537
wdrs:describedby
n5:doid.owl