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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
cerebral folate receptor alpha deficiency
Summary
- Synonym
-
- Neurodegeneration due to cerebral folate transport 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.
- Super Class
- autosomal recessive disease vitamin metabolic disorder
External Links
- Disease Ontology
- DOID:0050719
- Mondo Disease Ontology
- OMIM
- WikiPathways (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0002180 | Neurodegeneration |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002376 | Developmental regression |
| HP:0001250 | Seizure |
