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DO Term : cerebral folate receptor alpha deficiency [DOID:0050719] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • OMIM:613068,
  • Neurodegeneration due to cerebral folate transport deficiency,
  • 613068
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