# 3-methylglutaconic aciduria type 3

> 3-methylglutaconic aciduria that has material basis in mutation in the OPA3 gene

**Wikidata**: [Q2823332](https://www.wikidata.org/wiki/Q2823332)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Costeff_syndrome)  
**Source**: https://4ort.xyz/entity/3-methylglutaconic-aciduria-type-3


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. [Source](https://omim.org/entry/165300)
4. UniProt
5. Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000125741/MONDO_0009787)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)