# tetrahydrobiopterin deficiency

> medical condition

**Wikidata**: [Q7706537](https://www.wikidata.org/wiki/Q7706537)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Tetrahydrobiopterin_deficiency)  
**Source**: https://4ort.xyz/entity/tetrahydrobiopterin-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_d305c30f-50c1-491a-846f-4af6a2ad8aff-2021-07-27T160000.000Z)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000166228/MONDO_0009908)
6. [Source](https://cdn.who.int/media/docs/default-source/classification/icd/icd-10/icd-10-to-meddra-map---june-2023---codes-mapping.xlsx)