# acyl-CoA dehydrogenase 9 deficiency

> Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy

**Wikidata**: [Q55783804](https://www.wikidata.org/wiki/Q55783804)  
**Source**: https://4ort.xyz/entity/acyl-coa-dehydrogenase-9-deficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. UniProt
3. Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
4. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/5fad1866-75ce-470f-984c-e64bb7e11168--2018-03-27T16:00:00)
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_5fad1866-75ce-470f-984c-e64bb7e11168-2018-03-27T160000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000177646/MONDO_0012624)