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About: cerebellar ataxia type 47     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
  • cerebellar ataxia type 47
described by
id
  • DOID:0111743
database_cross_reference
  • OMIM:617931
has_exact_synonym
  • SCA47
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in PUM1 on chromosome 1p35.2.
is topic of
is annotatedSource of
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