cerebral folate receptor alpha deficiency Disease Ontology Browser

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cerebral folate receptor alpha deficiency (DOID:0050719)
Alliance: disease page
Synonyms: Neurodegeneration due to cerebral folate transport deficiency
Alt IDs: OMIM:613068
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.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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