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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_0080317
rdf:type
owl:Class
rdfs:subClassOf
_:vb50940741 n2:DOID_0050736 n2:DOID_0080315
rdfs:label
megalencephalic leukoencephalopathy with subcortical cysts 2B
wdrs:describedby
n7:doid.owl
obo:id
DOID:0080317
obo:hasDbXref
OMIM:613926
obo:hasExactSynonym
megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in HEPACAM on chromosome 11q24.
Subject Item
_:vb50940741
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n7:doid.owl