# cerebral folate receptor alpha deficiency

> Human disease

**Wikidata**: [Q18553424](https://www.wikidata.org/wiki/Q18553424)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Cerebral_folate_deficiency)  
**Source**: https://4ort.xyz/entity/cerebral-folate-receptor-alpha-deficiency


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Human Phenotype Ontology release 2018-03-08
4. Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/22c12588-dc55-4e90-827a-d7a6349e38a9--2018-04-27T16:49:24)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_22c12588-dc55-4e90-827a-d7a6349e38a9-2018-04-27T164924.579Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000110195/MONDO_0013110)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)