Metadata | |
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ID | DOID:0050719 |
Name | cerebral folate receptor alpha deficiency |
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. http://en.wikipedia.org/wiki/B_vitamins, https://www.ncbi.nlm.nih.gov/pubmed/19732866 |
Xrefs | |
Synonyms |
Neurodegeneration due to cerebral folate transport deficiency [EXACT] |
Parent Relationships |