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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_0111772
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050736 n2:DOID_14448 _:vb50945431
rdfs:label
46,XY sex reversal 3
wdrs:describedby
n7:doid.owl
obo:id
DOID:0111772
obo:hasDbXref
OMIM:612965
obo:hasExactSynonym
SRXY3 46,XY sex reversal, partial or complete, NR5A1-related sex reversal, XY, with or without adrenal failure disorder of sex development, 46,XY, NR5A1-related 46,XY gonadal dysgenesis, partial or complete, with or without adrenal failure
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in NR5A1 on chromosome 9q33.3.
Subject Item
_:vb50945431
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n7:doid.owl