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About: autosomal recessive spinocerebellar ataxia 4     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
  • autosomal recessive spinocerebellar ataxia 4
described by
id
  • DOID:0111611
database_cross_reference
  • GARD:4952
  • MESH:C537310
  • OMIM:607317
  • ORDO:95434
  • UMLS_CUI:C1846492
has_exact_synonym
  • SCA24 (en)
  • SCAR4 (en)
  • SCASI (en)
  • spinocerebellar ataxia 24 (en)
  • spinocerebellar ataxia with saccadic intrusions (en)
  • autosomal recessive cerebellar ataxia-saccadic intrusion syndrome (en)
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in VPS13D on chromosome 1p36.22-p36.21.
is topic of
is annotatedSource of
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