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About: autosomal recessive spinocerebellar ataxia 12     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
type
subClassOf
label
  • autosomal recessive spinocerebellar ataxia 12
described by
id
  • DOID:0080060
created_by
  • lschriml
creation_date
  • 2015-10-07T14:55:44Z
database_cross_reference
  • OMIM:614322
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23.
is topic of
is annotatedSource of
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