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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_0070029
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050736 n2:DOID_9246 _:vb50939635
rdfs:label
ITM2B-related cerebral amyloid angiopathy 1
wdrs:describedby
n5:doid.owl
obo:id
DOID:0070029
obo:hasDbXref
GARD:8344 OMIM:176500
obo:hasExactSynonym
Presenile Dementia with Spastic Ataxia FBD Cerebral Amyloid Angiopathy, British Type Familial British Dementia
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in an autosomal dominant mutation of ITM2B on chromosome 13q14.2.
Subject Item
_:vb50939635
rdf:type
owl:Restriction
owl:onProperty
n2:IDO_0000664
owl:someValuesFrom
n2:GENO_0000147
wdrs:describedby
n5:doid.owl