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About: cerebral folate receptor alpha deficiency     Goto   Sponge   Distinct   Permalink

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

AttributesValues
type
subClassOf
label
  • cerebral folate receptor alpha deficiency
described by
id
  • DOID:0050719
created_by
  • lschriml
creation_date
  • 2012-06-11T02:58:59Z
database_cross_reference
  • OMIM:613068
has_obo_namespace
  • disease_ontology
http://purl.obolib...g/obo/IAO_0000115
  • A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy.
is topic of
is annotatedSource of
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