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

AttributesValues
type
subClassOf
label
  • autosomal recessive spinocerebellar ataxia 6
described by
id
  • DOID:0111617
database_cross_reference
  • GARD:4954
  • MESH:C537312
  • OMIM:608029
  • ORDO:284332
  • UMLS_CUI:C1842676
has_exact_synonym
  • SCAR6 (en)
  • autosomal recessive spinocerebellar ataxia type 6 (en)
  • infantile-onset autosomal recessive nonprogressive cerebellar ataxia (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13.
is topic of
is annotatedSource of
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