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About: ataxia with oculomotor apraxia type 1     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
  • ataxia with oculomotor apraxia type 1
described by
id
  • DOID:0050754
created_by
  • lschriml
creation_date
  • 2013-01-16T01:07:02Z
database_cross_reference
  • GARD:9283
  • OMIM:208920
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene.
is topic of
is annotatedSource of
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