# ethylmalonic encephalopathy

> Human disease

**Wikidata**: [Q17119115](https://www.wikidata.org/wiki/Q17119115)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy)  
**Source**: https://4ort.xyz/entity/ethylmalonic-encephalopathy


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000105755/MONDO_0011229)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)