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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_0112238
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050735 _:vb50946347 n2:DOID_0050453
rdfs:label
X-linked lissencephaly 2
wdrs:describedby
n7:doid.owl
obo:id
DOID:0112238
obo:hasDbXref
OMIM:300215 ORDO:452
obo:hasExactSynonym
XLIS2 X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome X-linked lissencephaly with abnormal genitalia X-linked lissencephaly with ambiguous genitalia XLAG (X-linked lissencephaly with abnormal genitalia) syndrome XLAG
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3.
Subject Item
_:vb50946347
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000936
wdrs:describedby
n7:doid.owl