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About: spinocerebellar ataxia type 5     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
type
subClassOf
label
  • spinocerebellar ataxia type 5
described by
id
  • DOID:0050882
created_by
  • lschriml
creation_date
  • 2014-08-06T03:51:03Z
database_cross_reference
  • GARD:4953
  • OMIM:600224
has_obo_namespace
  • disease_ontology
in_subset
http://purl.obolib...g/obo/IAO_0000115
  • An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene.
is topic of
is annotatedSource of
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