About: autosomal recessive spinocerebellar ataxia 14

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An Entity of Type : owl:Class, within Data Space : linkeddata.uriburner.com:28898 associated with source document(s)

Attributes	Values
type	Class
subClassOf	autosomal recessive cerebellar ataxia
label	autosomal recessive spinocerebellar ataxia 14
described by	https://demo.openlinksw.com/about/id/entity/http/purl.obolibrary.org/obo/doid.owl
id	DOID:0080058
created_by	lschriml
creation_date	2015-10-07T14:55:44Z
database_cross_reference	OMIM:615386
has_obo_namespace	disease_ontology
http://purl.obolib...g/obo/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.
is topic of	Human Disease Ontology
is annotatedSource of	nodeID://b50940311

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