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Summary Literature (0)
DOID:0050719 - cerebral folate receptor alpha deficiency

Disease Ontology Definition: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: Neurodegeneration due to cerebral folate transport deficiency,

Xenbase Genes : folr1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013110 - neurodegenerative syndrome due to cerebral folate transport deficiency


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), genetic disease (is_a), vitamin metabolic disorder (is_a)