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Namespace Prefixes

PrefixIRI
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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_0050946
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050950
rdfs:label
Charlevoix-Saguenay spastic ataxia
wdrs:describedby
n5:doid.owl
obo:id
DOID:0050946
obo:created_by
lschriml
obo:creation_date
2015-09-18T14:13:49Z
obo:hasDbXref
GARD:4910 OMIM:270550 MESH:C536787
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12.