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Namespace Prefixes

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Statements

Subject Item
n2:DOID_0080058
rdf:type
owl:Class
rdfs:subClassOf
n2:DOID_0050950
rdfs:label
autosomal recessive spinocerebellar ataxia 14
wdrs:describedby
n5:doid.owl
obo:id
DOID:0080058
obo:created_by
lschriml
obo:creation_date
2015-10-07T14:55:44Z
obo:hasDbXref
OMIM:615386
obo:hasOBONamespace
disease_ontology
n2:IAO_0000115
An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13.