# beta-ketothiolase deficiency

> Human disease

**Wikidata**: [Q4897218](https://www.wikidata.org/wiki/Q4897218)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Beta-ketothiolase_deficiency)  
**Source**: https://4ort.xyz/entity/beta-ketothiolase-deficiency


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Monarch Disease Ontology release 2018-06-29
3. Disease Ontology
4. UniProt
5. Evidence for a structural mutation (347Ala to Thr) in a German family with 3-ketothiolase deficiency
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/99bcab0a-de59-479d-8fe6-8b76cbce90ee--2018-05-22T16:00:00)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_99bcab0a-de59-479d-8fe6-8b76cbce90ee-2018-05-22T160000.000Z)
8. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000075239/MONDO_0008760)
9. [Identifiers.org](https://registry.identifiers.org/registry/doid)