Cerebral Folate Receptor Alpha Deficiency
Disease ID: disease_node_17079
Connections displayed (default: 10).
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| Dbxref | MIM:613068 |
|---|---|
| Subclassof | DOID_0050737, DOID_0050718 |
| Data Source | DOID |
| Synonyms | Neurodegeneration due to cerebral folate transport deficiency |
| Disease Has Location | UBERON_0001893 |
| Doid Label | cerebral folate receptor alpha deficiency |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17079 |
| Doid Id | DOID_0050719 |
| Label | Cerebral Folate Receptor Alpha Deficiency |
- Outgoing r'ship
SUBCLASS_OFto/from Vitamin Metabolic Disorder(ID:disease_node_17078) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)