# sepiapterin reductase deficiency

> human disease

**Wikidata**: [Q17156923](https://www.wikidata.org/wiki/Q17156923)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Sepiapterin_reductase_deficiency)  
**Source**: https://4ort.xyz/entity/sepiapterin-reductase-deficiency


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Monarch Disease Ontology release 2018-06-29
4. UniProt
5. Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1c9f2ff6-39f1-4abc-9fdf-de4c0e23120d-2021-06-04T221815.205Z)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000116096/MONDO_0012994)
8. BabelNet
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)