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About: cerebellar ataxia type 43     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 43
described by
id
  • DOID:0111745
database_cross_reference
  • OMIM:617018
  • ORDO:497764
has_exact_synonym
  • SCA43
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2.
is topic of
is annotatedSource of
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