# 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
**Wikidata**: [Q55783430](https://www.wikidata.org/wiki/Q55783430)  
**Source**: https://4ort.xyz/entity/3-hydroxy-3-methylglutaryl-coa-synthase-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: clinical course and description of causal mutations in two patients
3. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/b3f49254-4635-4961-83b9-31c7ebc7f159--2018-05-22T16:00:00)
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_b3f49254-4635-4961-83b9-31c7ebc7f159-2018-05-22T160000.000Z)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000134240/MONDO_0011614)
6. UMLS 2023