SPARQL | HTML Microdata document
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Namespace Prefixes
Prefix IRI
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n2 http://purl.obolibrary.org/obo/
wdrs http://www.w3.org/2007/05/powder-s#
rdfs http://www.w3.org/2000/01/rdf-schema#
obo http://www.geneontology.org/formats/oboInOwl#
rdf http://www.w3.org/1999/02/22-rdf-syntax-ns#
owl http://www.w3.org/2002/07/owl#
xsdh http://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.