| Metadata | |
|---|---|
| ID | DOID:0050719 |
| PURL | http://purl.obolibrary.org/obo/DOID_0050719 Copy |
| 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 |